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2023

Maroofian, Reza; Kaiyrzhanov, Rauan; Cali, Elisa; Zamani, Mina; Zaki, Maha S; Ferla, Matteo; Tortora, Domenico; Sadeghian, Saeid; Saadi, Saadia Maryam; Abdullah, Uzma; Ghayoor Karimiani, Ehsan; Efthymiou, Stephanie; Yeşil, Gözde; Alavi, Shahryar; Al Shamsi, Aisha M; Tajsharghi, Homa; Abdel-Hamid, Mohamed S; Saadi, Nebal Waill; Al Mutairi, Fuad; Alabdi, Lama; Beetz, Christian; Ali, Zafar; Toosi, Mehran Beiraghi; Rudnik-Schöneborn, Sabine; Babaei, Meisam; Isohanni, Pirjo; Muhammad, Jameel; Sheraz, Khan; Al Shalan, Maha; Hickey, Scott E; et al; Steindl, Katharina; Begemann, Anaïs; Rauch, Anita (2023). Biallelic MED27 variants lead to variable ponto-cerebello-lental degeneration with movement disorders. Brain: a journal of neurology, 146(12):5031-5043.

Peluso, Francesca; Caraffi, Stefano Giuseppe; Contrò, Gianluca; Valeri, Lara; Napoli, Manuela; Carboni, Giorgia; Seth, Alka; Zuntini, Roberta; Coccia, Emanuele; Astrea, Guja; Bisgaard, Anne-Marie; Ivanovski, Ivan; Maitz, Silvia; Brischoux-Boucher, Elise; Carter, Melissa T; Dentici, Maria Lisa; Devriendt, Koenraad; Bellini, Melissa; Digilio, Maria Cristina; Doja, Asif; Dyment, David A; Farholt, Stense; Ferreira, Carlos R; Wolfe, Lynne A; Gahl, William A; Gnazzo, Maria; Goel, Himanshu; Weller Grønborg, Sabine; Hammer, Trine; Iughetti, Lorenzo; et al (2023). Deep phenotyping of the neuroimaging and skeletal features in KBG syndrome: a study of 53 patients and review of the literature. Journal of Medical Genetics, 60(12):1224-1234.

Hülsmeier, Andreas J; Toelle, Sandra P; Bellstedt, Peter; Wentzel, Christian; Bahr, Angela; Kolokotronis, Konstantinos; Hornemann, Thorsten (2023). The atypical sphingolipid SPB 18:1(14Z);O2 is a biomarker for DEGS1 related hypomyelinating leukodystrophy. Journal of Lipid Research, 64(12):100464.

Bosch, Elisabeth; Popp, Bernt; Güse, Esther; Skinner, Cindy; van der Sluijs, Pleuntje J; Maystadt, Isabelle; Pinto, Anna Maria; Renieri, Alessandra; Bruno, Lucia Pia; Granata, Stefania; Marcelis, Carlo; Baysal, Özlem; Hartwich, Dewi; Holthöfer, Laura; Isidor, Bertrand; Cogné, Benjamin; Wieczorek, Dagmar; Capra, Valeria; Scala, Marcello; De Marco, Patrizia; Ognibene, Marzia; Abou Jamra, Rami; Platzer, Konrad; Carter, Lauren B; Kuismin, Outi; van Haeringen, Arie; Maroofian, Reza; Valenzuela, Irene; Cuscó, Ivon; Martinez-Agosto, Julian A; et al; Zweier, Markus (2023). Elucidating the clinical and molecular spectrum of SMARCC2-associated NDD in a cohort of 65 affected individuals. Genetics in Medicine, 25(11):100950.

Buljan, Marija; Banaei-Esfahani, Amir; Blattmann, Peter; Meier-Abt, Fabienne; Shao, Wenguang; Vitek, Olga; Tang, Hua; Aebersold, Ruedi (2023). A computational framework for the inference of protein complex remodeling from whole-proteome measurements. Nature Methods, 20(10):1523-1529.

Zjacic, Nicolina (2023). Exploring endometriosis: a surprisingly common disease. www.factsandreasons.com: Facts and Reasons.

Dingemans, Alexander J M; Hinne, Max; Truijen, Kim M G; Goltstein, Lia; van Reeuwijk, Jeroen; de Leeuw, Nicole; Schuurs-Hoeijmakers, Janneke; Pfundt, Rolph; Diets, Illja J; den Hoed, Joery; de Boer, Elke; Coenen-van der Spek, Jet; Jansen, Sandra; van Bon, Bregje W; Jonis, Noraly; Ockeloen, Charlotte W; Vulto-van Silfhout, Anneke T; Kleefstra, Tjitske; Koolen, David A; Campeau, Philippe M; Palmer, Elizabeth E; Van Esch, Hilde; Lyon, Gholson J; Alkuraya, Fowzan S; Rauch, Anita; Marom, Ronit; Baralle, Diana; van der Sluijs, Pleuntje J; Santen, Gijs W E; Kooy, R Frank; et al (2023). PhenoScore quantifies phenotypic variation for rare genetic diseases by combining facial analysis with other clinical features using a machine-learning framework. Nature Genetics, 55(9):1598-1607.

Kiselev, Nikolai; Frey, Tanja; Naesbom, Annika; Planzer, Reto; Meyer-Heim, Andreas (2023). Perspectives of Swiss Paediatric Health Care Professionals on Factors Influencing Physical Activity Participation in Children with Disabilities. Developmental Neurorehabilitation, 26(5):328-337.

Vintschger, Ella; Kraemer, Dennis; Joset, Pascal; Horn, Anselm H C; Rauch, Anita; Sticht, Heinrich; Bachmann-Gagescu, Ruxandra (2023). Challenges for the implementation of next generation sequencing-based expanded carrier screening: Lessons learned from the ciliopathies. European Journal of Human Genetics, 31(8):953-961.

Alves, Victoria Cunha; Figueiro-Silva, Joana; Ferrer, Isidre; Carro, Eva (2023). Epigenetic silencing of OR and TAS2R genes expression in human orbitofrontal cortex at early stages of sporadic Alzheimer’s disease. Cellular and Molecular Life Sciences, 80(8):196.

Frey, Tanja; Ivanovski, Ivan; Bahr, Angela; Zweier, Markus; Laube, Julia; Luchsinger, Isabelle; Steindl, Katharina; Rauch, Anita (2023). A very mild phenotype in six individuals of a three-generation family with the novel HRAS variant c.176C > G p.(Ala59Gly): Emergence of a new HRAS-related RASopathy distinct from Costello syndrome. American Journal of Medical Genetics. Part A, 191(8):2074-2082.

Zanoni, Paolo; Steindl, Katharina; Sticht, Heinrich; Oneda, Beatrice; Joset, Pascal; Ivanovski, Ivan; Horn, Anselm H C; Cabello, Elena María; Laube, Julia; Zweier, Markus; Baumer, Alessandra; Rauch, Anita; Khan, Nadia (2023). The genetic landscape and clinical implication of pediatric Moyamoya angiopathy in an international cohort. European Journal of Human Genetics, 31(7):784-792.

Asadollahi, Reza; Delvendahl, Igor; Muff, Rebecca; Tan, Ge; Rodríguez, Daymé González; Turan, Soeren; Russo, Martina; Oneda, Beatrice; Joset, Pascal; Boonsawat, Paranchai; Masood, Rahim; Mocera, Martina; Ivanovski, Ivan; Baumer Wolz, Alessandra; Bachmann-Gagescu, Ruxandra; Schlapbach, Ralph; Rehrauer, Hubert; Steindl, Katharina; Begemann, Anaïs; Reis, André; Winkler, Jürgen; Winner, Beate; Müller, Martin; Rauch, Anita (2023). Pathogenic SCN2A variants cause early-stage dysfunction in patient-derived neurons. Human Molecular Genetics, 32(13):2192-2204.

Blackburn, Patrick R; Ebstein, Frédéric; Hsieh, Tzung-Chien; Motta, Marialetizia; Radio, Francesca Clementina; Herkert, Johanna C; Rinne, Tuula; Thiffault, Isabelle; Rapp, Michele; Alders, Mariel; Maas, Saskia; Gérard, Bénédicte; Smol, Thomas; Vincent-Delorme, Catherine; Cogné, Benjamin; Isidor, Bertrand; Vincent, Marie; Bachmann-Gagescu, Ruxandra; Rauch, Anita; Joset, Pascal; Ferrero, Giovanni Battista; Ciolfi, Andrea; Husson, Thomas; Guerrot, Anne-Marie; Bacino, Carlos; Macmurdo, Colleen; Thompson, Stephanie S; Rosenfeld, Jill A; Faivre, Laurence; Mau-Them, Frederic Tran; et al (2023). Loss-of-function variants in CUL3 cause a syndromic neurodevelopmental disorder. medRxiv 23290941, Cold Spring Harbor Laboratory.

Zjacic, Nicolina (2023). Corrections and retractions in academia. www.factsandreasons.com: Facts and Reasons.

Grether, Anna; Ivanovski, Ivan; Russo, Martina; Begemann, Anaïs; Steindl, Katharina; Abela, Lucia; Papik, Michael; Zweier, Markus; Oneda, Beatrice; Joset, Pascal; Rauch, Anita (2023). The current benefit of genome sequencing compared to exome sequencing in patients with developmental or epileptic encephalopathies. Molecular Genetics & Genomic Medicine, 11(5):e2148.

Lecca, Mauro; Pehlivan, Davut; Suñer, Damià Heine; Weiss, Karin; Coste, Thibault; Zweier, Markus; Oktay, Yavuz; Danial-Farran, Nada; Rosti, Vittorio; Bonasoni, Maria Paola; Malara, Alessandro; Contrò, Gianluca; Zuntini, Roberta; Pollazzon, Marzia; Pascarella, Rosario; Neri, Alberto; Fusco, Carlo; Marafi, Dana; Mitani, Tadahiro; Posey, Jennifer Ellen; Bayramoglu, Sadik Etka; Gezdirici, Alper; Hernandez-Rodriguez, Jessica; Cladera, Emilia Amengual; Miravet, Elena; Roldan-Busto, Jorge; Ruiz, María Angeles; Bauzá, Cristofol Vives; Ben-Sira, Liat; Sigaudy, Sabine; Begemann, Anaïs; Rauch, Anita; et al (2023). Bi-allelic variants in the ESAM tight-junction gene cause a neurodevelopmental disorder associated with fetal intracranial hemorrhage. American Journal of Human Genetics, 110(4):681-690.

Carrero, Laura; Antequera, Desireé; Alcalde, Ignacio; Megías, Diego; Figueiro-Silva, Joana; Merayo-Lloves, Jesús; Municio, Cristins; Carro, Eva (2023). Disturbed circadian rhythm and retinal degeneration in a mouse model of Alzheimer’s disease. Acta Neuropathologica Communications, 11(1):55.

Sheppard, Sarah E; Bryant, Laura; Wickramasekara, Rochelle N; Vaccaro, Courtney; Robertson, Brynn; Hallgren, Jodi; Hulen, Jason; Watson, Cynthia J; Faundes, Victor; Duffourd, Yannis; Lee, Pearl; Simon, M Celeste; de la Cruz, Xavier; Padilla, Natália; Flores-Mendez, Marco; Akizu, Naiara; Smiler, Jacqueline; Da Silva, Renata Pellegrino; Li, Dong; March, Michael; Diaz-Rosado, Abdias; de Barcelos, Isabella Peixoto; Choa, Zhao Xiang; Lim, Chin Yan; Dubourg, Christèle; Journel, Hubert; Demurger, Florence; Mulhern, Maureen; Akman, Cigdem; Lippa, Natalie; Joset, Pascal; Steindl, Katharina; Rauch, Anita; et al (2023). Mechanism of KMT5B haploinsufficiency in neurodevelopment in humans and mice. Science Advances, 9(10):eade1463.

Zjacic, Nicolina (2023). How much of our brain do we really use? : Facts and Reasons.

Holfeld, Aleš; Schuster, Dina; Sesterhenn, Fabian; Stalder, Patrick; Haenseler, Walther; Barrio-Hernandez, Inigo; Ghosh, Dhiman; Vowles, Jane; Cowley, Sally A; Nagel, Luise; Khanppnavar, Basavraj; Beltrao, Pedro; Korkhov, Volodymyr M; Riek, Roland; Souza, Natalie de; Picotti, Paola (2023). Systematic identification of structure-specific protein–protein interactions. ArXiv.org 522707, Cornell University.

Konrat, Judith; Rösler, Wiebke; Roiss, Michael; Meier-Abt, Fabienne; Widmer, Corinne C; Balabanov, Stefan; Manz, Markus G; Zenz, Thorsten (2023). BRAF inhibitor treatment of classical hairy cell leukemia allows successful vaccination against SARS-CoV-2. Annals of Hematology, 102(2):403-406.

Hiatt, Susan M; Trajkova, Slavica; Sebastiano, Matteo Rossi; Partridge, E Christopher; et al; Bachmann-Gagescu, Ruxandra; Rauch, Anita (2023). Deleterious, protein-altering variants in the transcriptional coregulator ZMYM3 in 27 individuals with a neurodevelopmental delay phenotype. American Journal of Human Genetics, 110(2):215-227.

Steffensen, Ellen Hollands; Skakkebæk, Anne; Gadsbøll, Kasper; Petersen, Olav Bjørn; Westover, Thomas; Strange, Heather; NIPT-SCA-map Study Group; Vogel, Ida; et al; Rauch, Anita (2023). Inclusion of sex chromosomes in noninvasive prenatal testing in Asia, Australia, Europe and the USA: A survey study. Prenatal Diagnosis, 43(2):144-155.

Snijders Blok, Lot; Verseput, Jolijn; Rots, Dmitrijs; et al; Steindl, Katharina; Rauch, Anita (2023). A clustering of heterozygous missense variants in the crucial chromatin modifier WDR5 defines a new neurodevelopmental disorder. Human Genetics and Genomics Advances, 4(1):100157.

Kraemer, Dennis; Terumalai, Dillenn; Famiglietti, Maria Livia; Filges, Isabel; Joset, Pascal; Koller, Samuel; Maurer, Fabienne; Meier, Stéphanie; Nouspikel, Thierry; Sanz, Javier; Zweier, Christiane; Abramowicz, Marc; Berger, Wolfgang; Cichon, Sven; Schaller, André; Superti-Furga, Andrea; Barbié, Valérie; Rauch, Anita (2023). SwissGenVar: A platform for clinical grade interpretation of genetic variants to foster personalized health care in Switzerland. medRxiv 22283790, Cold Spring Harbor Laboratory.

Cali, Elisa; Suri, Mohnish; Scala, Marcello; et al; Steindl, Katharina; Herenger, Yvan; Rauch, Anita (2023). Biallelic PRMT7 pathogenic variants are associated with a recognizable syndromic neurodevelopmental disorder with short stature, obesity, and craniofacial and digital abnormalities. Genetics in Medicine, 25(1):135-142.

Rieger, Melissa; Moutton, Sébastien; Verheyen, Sarah; Steindl, Katharina; Popp, Bernt; Leheup, Bruno; Bonnet, Céline; Oneda, Beatrice; Rauch, Anita; Reis, André; Krumbiegel, Mandy; Hüffmeier, Ulrike (2023). Microdeletions at 19p13.11p12 in five individuals with neurodevelopmental delay. European Journal of Medical Genetics, 66(1):104669.

Masek, Markus; Zang, Jingjing; Mateos, José María; Garbelli, Marco; Ziegler, Urs; Neuhauss, Stephan C F; Bachmann-Gagescu, Ruxandra (2023). Studying the morphology, composition and function of the photoreceptor primary cilium in zebrafish. Methods in Cell Biology, 175:97-128.

2022

Filges, Isabel; Cichon, Sven; Nouspikel, Thierry; Porret, Naomi A; Rauch, Anita; Unger, Sheila (2022). Genetische Beratung: Konzepte, Missverständnisse, Perspektiven. Schweizerische Ärztezeitung (SÄZ), 103(4950):34-36.

Begemann, Anaïs; Oneda, Beatrice; Baumer Wolz, Alessandra; Guldimann, Marina; Tutschek, Boris; Rauch, Anita (2022). A Xp22.11-p21.3 microdeletion in a three-generation family supports male lethality of POLA1 nullisomy resulting in reduced fertility of female carriers. European Journal of Medical Genetics, 65(12):104628.

Masek, Markus; Etard, Christelle; Hofmann, Claudia; Hülsmeier, Andreas J; Zang, Jingjing; Takamiya, Masanari; Gesemann, Matthias; Neuhauss, Stephan C F; Hornemann, Thorsten; Strähle, Uwe; Bachmann-Gagescu, Ruxandra (2022). Loss of the Bardet-Biedl protein Bbs1 alters photoreceptor outer segment protein and lipid composition. Nature Communications, 13:1282.

Trachsel, Tina Elvira; Prader, Seraina; Steindl, Katharina; Pachlopnik Schmid, Jana (2022). Case report: ETS1 gene deletion associated with a low number of recent thymic emigrants in three patients with Jacobsen syndrome. Frontiers in Immunology, 13:867206.

Hummel, Elisabeth; Elgizouli, Magdeldin; Sicorello, Maurizio; Leitão, Elsa; Beygo, Jasmin; Schröder, Christopher; Zeschnigk, Michael; Müller, Svenja; Herpertz, Stephan; Moser, Dirk; Kessler, Henrik; Horsthemke, Bernhard; Kumsta, Robert (2022). No evidence for intervention-associated DNA methylation changes in monocytes of patients with posttraumatic stress disorder. Scientific Reports, 12:17347.

Dingemans, Alexander J M; Hinne, Max; Truijen, Kim M G; Goltstein, Lia; et al; Rauch, Anita (2022). PhenoScore: AI-based phenomics to quantify rare disease and genetic variation. medRxiv 22281480, Cold Spring Harbor Laboratory.

Borlin, Petra R; Brazzola, Pierluigi; Frontzek, Karl; Zanoni, Paolo; Morscher, Raphael J; Hench, Jürgen; Frank, Stephan; Kottke, Raimund; Rushing, Elisabeth J; Goeggel Simonetti, Barbara; Steindl, Katharina; Guerreiro Stucklin, Ana S (2022). Cancer in children with biallelic BRCA1 variants and Fanconi anemia-like features: Report of a malignant brain tumor in a young child. Pediatric Blood & Cancer, 69(10):e29680.

van Woerden, Geeske M; Senden, Richelle; de Konink, Charlotte; Trezza, Rossella Avagliano; Baban, Anwar; Bassetti, Jennifer Alisha; van Bever, Yolande; Bird, Lynne M; van Bon, Bregje W; Brooks, Alice S; Guan, Qiaoning; Klee, Eric W; Marcelis, Carlo; Rosado, Joel Morales; Schimmenti, Lisa A; Shikany, Amy R; Terhal, Paulien A; Nicole Weaver, K; Wessels, Marja W; van Wieringen, Hester; Hurst, Anna C; Gooch, Catherine F; Steindl, Katharina; Joset, Pascal; Rauch, Anita; Tartaglia, Marco; Niceta, Marcello; Elgersma, Ype; Demirdas, Serwet (2022). The MAP3K7 gene: further delineation of clinical characteristics and genotype/phenotype correlations. Human Mutation, 43(10):1377-1395.

Hiatt, Susan M; Trajkova, Slavica; Sebastiano, Matteo Rossi; Partridge, E Christopher; et al; Bachmann-Gagescu, Ruxandra; Rauch, Anita (2022). Deleterious, protein-altering variants in the X-linked transcriptional coregulator ZMYM3 in 22 individuals with a neurodevelopmental delay phenotype. medRxiv 22279724, Cold Spring Harbor Laboratory.

Redaktion SÄZ; Rauch, Anita (2022). News der Woche : Gentests für Eltern. Schweizerische Ärztezeitung (SÄZ), 103(37):10.

Rauch, Anita (2022). Vaccin contre la variole du singe. Schweizerische Ärztezeitung (SÄZ), (103(37):10):8-11.

Bonnard, Elsa; Liu, Jun; Zjacic, Nicolina; Alvarez, Luis; Scholz, Monika (2022). Automatically tracking feeding behavior in populations of foraging C. elegans. eLife, 11:e77252.

Gerber, Céline B; Fliedner, Anna; Bartsch, Oliver; Berland, Siren; Dewenter, Malin; Haug, Marte; Hayes, Ian; Marin‐Reina, Purificacion; Mark, Paul R; Martinez‐Castellano, Francisco; Maystadt, Isabelle; Karadurmus, Deniz; Steindl, Katharina; Wiesener, Antje; Zweier, Markus; Sticht, Heinrich; Zweier, Christiane (2022). Further characterization of Borjeson-Forssman-Lehmann syndrome in females due to de novo variants in PHF6. Clinical Genetics, 102(3):182-190.

Laugwitz, Lucia; Seibt, Annette; Herebian, Diran; Peralta, Susana; et al; Steinfeld, Robert; Joset, Pascal; Steindl, Katharina; Rauch, Anita (2022). Human COQ4 deficiency: delineating the clinical, metabolic and neuroimaging phenotypes. Journal of Medical Genetics, 59(9):878-887.

Ziegler, Alban; Steindl, Katharina; Hanner, Ashleigh S; Kumar Kar, Rajesh; Prouteau, Clément; Boland, Anne; Deleuze, Jean Francois; Coubes, Christine; Bézieau, Stéphane; Küry, Sébastien; Maystadt, Isabelle; Le Mao, Morgane; Lenaers, Guy; Navet, Benjamin; Faivre, Laurence; Tran Mau-Them, Frédéric; Zanoni, Paolo; Chung, Wendy K; Rauch, Anita; Bonneau, Dominique; Park, Myung Hee (2022). Bi-allelic variants in DOHH, catalyzing the last step of hypusine biosynthesis, are associated with a neurodevelopmental disorder. American Journal of Human Genetics, 109(8):1549-1558.

Boonsawat, Paranchai; Horn, Anselm H C; Steindl, Katharina; Baumer Wolz, Alessandra; Joset, Pascal; Kraemer, Dennis; Bahr, Angela; Ivanovski, Ivan; Cabello Ferrete, Elena; Papik, Michael; Zweier, Markus; Oneda, Beatrice; Sirleto, Pietro; Burkhardt, Tilo; Sticht, Heinrich; Rauch, Anita (2022). Assessing clinical utility of preconception expanded carrier screening regarding residual risk for neurodevelopmental disorders. n p j Genomic Medicine, 7(1):45.

Rusterholz, Tamara D S; Hofmann, Claudia; Bachmann-Gagescu, Ruxandra (2022). Insights Gained From Zebrafish Models for the Ciliopathy Joubert Syndrome. Frontiers in Genetics, 13:939527.

Mytlis, Avishag; Kumar, Vineet; Qiu, Tao; Deis, Rachael; Hart, Neta; Levy, Karine; Masek, Markus; Shawahny, Amal; Ahmad, Adam; Eitan, Hagai; Nather, Farouq; Adar-Levor, Shai; Birnbaum, Ramon Y; Elia, Natalie; Bachmann-Gagescu, Ruxandra; Roy, Sudipto; Elkouby, Yaniv M (2022). Control of meiotic chromosomal bouquet and germ cell morphogenesis by the zygotene cilium. Science, 376:6599.

Tan, Ge; Wolski, Witold Eryk; Kummer, Sandra; Hofstetter, Mara Carina; Theocharides, Alexandre P A; Manz, Markus G; Aebersold, Ruedi; Meier-Abt, Fabienne (2022). Proteomic identification of proliferation and progression markers in human polycythemia vera stem and progenitor cells. Blood Advances, 6(11):3480-3493.

Mende, Nicole; Bastos, Hugo P; Santoro, Antonella; Mahbubani, Krishnaa T; Ciaurro, Valerio; Calderbank, Emily Francesca; Quiroga Londoño, Mariana; Sham, Kendig; Mantica, Giovanna; Morishima, Tatsuya; Mitchell, Emily; Lidonnici, Maria Rosa; Meier-Abt, Fabienne; Hayler, Daniel; Jardine, Laura; Curd, Abbie; Haniffa, Muzlifah; Ferrari, Giuliana; Takizawa, Hitoshi; Wilson, Nicola K; Gottgens, Bertie; Saeb-Parsy, Kourosh; Frontini, Mattia; Laurenti, Elisa (2022). Unique molecular and functional features of extramedullary hematopoietic stem and progenitor cell reservoirs in humans. Blood, 139(23):3387-3401.

Saebnia, Neda; Ebrahimzadeh-Vesal, Reza; Haddad-Mashhadrizeh, Aliakbar; Gholampour-Faroji, Nazanin; Schinzel, Albert; Neshati, Zeinab; Azimi-Nezhad, Mohsen (2022). Identification of a new splice-acceptor mutation in HFM1 and functional analysis through molecular docking in nonobstructive azoospermia. Journal of assisted reproduction and genetics, 39(5):1195-1203.

Zanoni, Paolo; Steindl, Katharina; Rauch, Anita (2022). Response to Cueto-González et al. Genetics in Medicine, 24(3):757.

Lowther, Chelsea; Mehrjouy, Mana M; Collins, Ryan L; Bak, Mads C; Dudchenko, Olga; Brand, Harrison; Dong, Zirui; Rasmussen, Malene B; Gu, Huiya; Weisz, David; Nazaryan-Petersen, Lusine; Fjorder, Amanda S; Mang, Yuan; Lind-Thomsen, Allan; Mendez, Juan M M; Calle, Xabier; Chopra, Anuja; Hansen, Claus; Bugge, Merete; Broekema, Roeland V; Varilo, Teppo; Luukkonen, Tiia; Engelen, John; Vianna-Morgante, Angela M; Fonseca, Ana Carolina S; Mazzeu, Juliana F; Dornelles-Wawruk, Halinna; Abe, Kikue T; Vermeesch, Joris R; Van Den Bogaert, Kris; Schinzel, Albert; et al (2022). Balanced chromosomal rearrangements offer insights into coding and noncoding genomic features associated with developmental disorders. medRxiv 22270795, Cold Spring Harbor Laboratory.

Rosato, Simonetta; Unger, Sheila; Campos-Xavier, Belinda; Caraffi, Stefano Giuseppe; Beltrami, Laura; Pollazzon, Marzia; Ivanovski, Ivan; Castori, Marco; Bonasoni, Maria Paola; Comitini, Giuseppina; Nikkels, Peter G J; Lindstrom, Kristin; Umandap, Christine; Superti-Furga, Andrea; Garavelli, Livia (2022). Clinical and Molecular Diagnosis of Osteocraniostenosis in Fetuses and Newborns: Prenatal Ultrasound, Clinical, Radiological and Pathological Features. Genes, 13:261.

Aillaud, Isabelle; Kaniyappan, Senthilvelrajan; Chandupatla, Ram Reddy; Ramirez, Lisa Marie; Alkhashrom, Sewar; Eichler, Jutta; Horn, Anselm H C; Zweckstetter, Markus; Mandelkow, Eckhard; Sticht, Heinrich; Funke, Susanne Aileen (2022). A novel D-amino acid peptide with therapeutic potential (ISAD1) inhibits aggregation of neurotoxic disease-relevant mutant Tau and prevents Tau toxicity in vitro. Alzheimer's Research & Therapy, 14:15.

Zanoni, Paolo; Panteloglou, Grigorios; Othman, Alaa; Haas, Joel T; Meier, Roger; Rimbert, Antoine; Futema, Marta; Abou-Khalil, Yara; Nørrelykke, Simon Flyvbjerg; Rzepiela, Andrzej J; Stoma, Szymon; Stebler, Michael; van Dijk, Freerk; Wijers, Melinde; Wolters, Justina C; Dalila, Nawar; Huijkman, Nicolette C A; Smit, Marieke; Gallo, Antonio; Carreau, Valerie; Philippi, Anne; Rabès, Jean-Pierre; Boileau, Catherine; Visentin, Michele; Vonghia, Luisa; Weyler, Jonas; Francque, Sven; Verrijken, An; Verhaegen, Ann; Van Gaal, Luc; et al; von Eckardstein, Arnold (2022). Posttranscriptional Regulation of the Human LDL Receptor by the U2-Spliceosome. Circulation Research, 130(1):80-95.

Cichon, Sven; Rauch, Anita (2022). Medizinische Genetik – Vom Orchideenfach zur Schlüsseldisziplin : Mit dem Abschluss des Humangenomprojektes im Jahr 2003 wurden grosse Erwartungen an die Rolle der Genetik im medizinischen Alltag geweckt. Haben sich diese heute bereits erfüllt? Swiss Medical Forum, 2022(01-02):11-13.

Omlin, Aurelius; Pratsinis, Manolis; Stoll, Susanna; Riniker, Salome; Hess Soom, Julie; Förbs, Diana; Padberg Sgier, Barbara; Azzarello-Burri, Silvia; Rothermundt, Christian (2022). Molekulargenetik und Molekularpathologie beim Prostatakarzinom. Swiss Medical Forum, 22(1-2):28-34.

2021

Meier-Abt, Fabienne; Lu, Junyan; Cannizzaro, Ester; Pohly, Marcel F; Kummer, Sandra; Pfammatter, Sibylle; Kunz, Laura; Collins, Ben C; Nadeu, Ferran; Lee, Kwang S; Xue, Peng; Gwerder, Myriam; Roiss, Michael; Hüllein, Jennifer; Scheinost, Sebastian; Dietrich, Sascha; Campo, Elias; Huber, Wolfgang; Aebersold, Ruedi; Zenz, Thorsten (2021). The Protein Landscape of Chronic Lymphocytic Leukemia (CLL). Blood, 138(24):2514-2525.

Bättig, Linda; Rosch, Richard Ewald; Steindl, Katharina; Bürki, Sarah Elisabeth; Ramantani, Georgia (2021). Sotos syndrome and the added value of genetic workup in epilepsy surgery. Epilepsia Open, 6(4):793-794.

Liu, Sanxiong; Aldinger, Kimberly A; Cheng, Chi Vicky; Kiyama, Takae; Dave, Mitali; McNamara, Hanna K; Zhao, Wukui; Caraffi, Stefano G; Ivanovski, Ivan; et al (2021). NRF1 association with AUTS2-Polycomb mediates specific gene activation in the brain. Molecular Cell, 81(22):4663-4676.e8.

Liu, Sanxiong; Aldinger, Kimberly A; Cheng, Chi Vicky; Kiyama, Takae; Dave, Mitali; McNamara, Hanna K; Zhao, Wukui; Stafford, James M; Descostes, Nicolas; Lee, Pedro; Caraffi, Stefano G; Ivanovski, Ivan; Errichiello, Edoardo; Zweier, Christiane; Zuffardi, Orsetta; Schneider, Michael; Papavasiliou, Antigone S; Perry, M Scott; Humberson, Jennifer; Cho, Megan T; Weber, Astrid; Swale, Andrew; Badea, Tudor C; Mao, Chai-An; Garavelli, Livia; Dobyns, William B; Reinberg, Danny (2021). NRF1 association with AUTS2-Polycomb mediates specific gene activation in the brain. Molecular Cell, 81(22):4757.

Malhis, Marwa; Kaniyappan, Senthilvelrajan; Aillaud, Isabelle; Chandupatla, Ram Reddy; Ramirez, Lisa Marie; Zweckstetter, Markus; Horn, Anselm H C; Mandelkow, Eckhard; Sticht, Heinrich; Funke, Susanne Aileen (2021). Potent Tau Aggregation Inhibitor D-Peptides Selected against Tau-Repeat 2 Using Mirror Image Phage Display. Chembiochem, 22(21):3049-3059.

Ricci, Emilia; Fetta, Anna; Garavelli, Livia; Caraffi, Stefano; Ivanovski, Ivan; et al (2021). Further delineation and long-term evolution of electroclinical phenotype in Mowat Wilson Syndrome. A longitudinal study in 40 individuals. Epilepsy & Behavior, 124:108315.

VanSickle, Elizabeth A; Michael, Julianne; Bachmann, André S; Rajasekaran, Surender; Prokop, Jeremy W; Kuzniecky, Ruben; Hofstede, Floris C; Steindl, Katharina; Rauch, Anita; Lipson, Mark H; Bupp, Caleb P (2021). Expanding the phenotype: Four new cases and hope for treatment in Bachmann-Bupp syndrome. American Journal of Medical Genetics. Part A, 185(11):3485-3493.

Condoluci, Adalgisa; Théaudin, Marie; Schwotzer, Rahel; Pazhenkottil, Aju P; Arosio, Paolo; Averaimo, Manuela; Bacher, Ulrike; Bode, Peter; Cavalli, Andrea; Dirnhofer, Stefan; Djerbi, Nadia; Dobner, Stephan; Fehr, Thomas; Garofalo, Maura; Gaspert, Ariana; Gerull, Sabine; Heimgartner, Raphael; Hübers, Annemarie; Jung, Hans H; Kessler, Chiara; Knöpfel, Raphael; Laptseva, Natallia; Magini, Giulia; Manka, Robert; Mazzucchelli, Luca; Meyer, Martin; Mihaylova, Violeta; Monney, Pierre; Mylonas, Alessio; Nkoulou, René; Pabst, Thomas; Pfister, Otmar; Rüfer, Axel; Schmidt, Adrian; Seeger, Harald; Stämpfli, Simon F; Stirnimann, Guido; Suter, Thomas; Treglia, Giorgio; Tzankov, Alexandar; Vetter, Friederike; Zweier, Markus; Flammer, Andreas J; Gerber, Bernhard (2021). Management of transthyretin amyloidosis. Swiss Medical Weekly, 151:w30053.

Škorić-Milosavljević, Doris; Lahrouchi, Najim; Bosada, Fernanda M; et al; German Competence Network for Congenital Heart Defects; et al; Steindl, Katharina; Rauch, Anita (2021). Correction to: Rare variants in KDR, encoding VEGF Receptor 2, are associated with tetralogy of Fallot. Genetics in Medicine, 23(10):2013.

Škorić-Milosavljević, Doris; Lahrouchi, Najim; Bosada, Fernanda M; et al; German Competence Network for Congenital Heart Defects; et al; Steindl, Katharina; Rauch, Anita (2021). Rare variants in KDR, encoding VEGF Receptor 2, are associated with tetralogy of Fallot. Genetics in Medicine, 23(10):1952-1960.

Stoll, Susanna; Unger, Sheila; Azzarello-Burri, Silvia; Chappuis, Pierre; Graffeo, Rossella; Pichert, Gabriella; Röthlisberger, Benno; Taban, Francois; Riniker, Salome (2021). Update Swiss guideline for counselling and testing for predisposition to breast, ovarian, pancreatic and prostate cancer. Swiss Medical Weekly, 151:w30038.

Corrêa, Thiago; Feltes, Bruno César; Schinzel, Albert; Riegel, Mariluce; Riegel, Mariluce (2021). Network-based analysis using chromosomal microdeletion syndromes as a model. American Journal of Medical Genetics. Part C: Seminars in Medical Genetics, 187(3):337-348.

Tran, Christel; Turolla, Licia; Ballhausen, Diana; Buros, Sandrine Cornaz; Teav, Tony; Gallart-Ayala, Hector; Ivanisevic, Julijana; Faouzi, Mohamed; Lefeber, Dirk J; Ivanovski, Ivan; Giangiobbe, Sara; Caraffi, Stefano Giuseppe; Garavelli, Livia; Superti-Furga, Andrea (2021). The fate of orally administered sialic acid: First insights from patients with N-acetylneuraminic acid synthase deficiency and control subjects. Molecular Genetics and Metabolism Reports, 28:100777.

Krumm, Laura; Pozner, Tatyana; Kaindl, Johanna; Regensburger, Martin; Günther, Claudia; Turan, Soeren; Asadollahi, Reza; Rauch, Anita; Winner, Beate (2021). Generation and characterization of an endogenously tagged SPG11-human iPSC line by CRISPR/Cas9 mediated knock-in. Stem Cell Research, 56:1-6.

Gogoll, Laura; Steindl, Katharina; Joset, Pascal; Zweier, Markus; Baumer Wolz, Alessandra; Gerth-Kahlert, Christina; Tutschek, Boris; Rauch, Anita (2021). Confirmation of Ogden syndrome as an X-linked recessive fatal disorder due to a recurrent NAA10 variant and review of the literature. American Journal of Medical Genetics. Part A, 185(8):2546-2560.

Zanoni, Paolo; Steindl, Katharina; Sengupta, Deepanwita; Joset, Pascal; Bahr, Angela; Sticht, Heinrich; Lang-Muritano, Mariarosaria; et al; Zweier, Markus; Gozani, Or; Rauch, Anita (2021). Loss-of-function and missense variants in NSD2 cause decreased methylation activity and are associated with a distinct developmental phenotype. Genetics in Medicine, 23(8):1474-1483.

Vavassori, Stefano; Chou, Janet; Faletti, Laura Eva; Haunerdinger, Veronika; Opitz, Lennart; Joset, Pascal; Fraser, Christopher J; Prader, Seraina; Gao, Xianfei; Schuch, Luise A; Wagner, Matias; Hoefele, Julia; Maccari, Maria Elena; Zhu, Ying; Elakis, George; Gabbett, Michael T; Forstner, Maria; Omran, Heymut; Kaiser, Thomas; Kessler, Christina; Olbrich, Heike; Frosk, Patrick; Almutairi, Abduarahman; Platt, Craig D; Elkins, Megan; Weeks, Sabrina; Rubin, Tamar; Planas, Raquel; Marchetti, Tommaso; Koovely, Danil; Brotschi, Barbara; Laube, Guido; Güngör, Tayfun; Kottke, Raimund; Weber, Achim; Griese, Matthias; Pachlopnik Schmid, Jana; et al (2021). Multisystem Inflammation and Susceptibility to Viral infections in Human ZNFX1 Deficiency. Journal of Allergy and Clinical Immunology, 148(2):381-393.

Cardenas-Rodriguez, Magdalena; Austin-Tse, Christina; Bergboer, Judith G M; Molinari, Elisa; Sugano, Yuya; Bachmann-Gagescu, Ruxandra; Sayer, John A; Drummond, Iain A (2021). Genetic compensation for cilia defects in cep290/NPHP6 mutants by upregulation of cilia-associated small GTPases. Journal of Cell Science, 134(14):jcs258568.

Masek, Markus; Etard, Christelle; Hofmann, Claudia; Hülsmeier, Andreas J; Zang, Jingjing; Takamiya, Masanari; Gesemann, Matthias; Neuhauss, Stephan; Hornemann, Thorsten; Strähle, Uwe; Bachmann-Gagescu, Ruxandra (2021). The Bardet-Biedl protein Bbs1 controls photoreceptor outer segment protein and lipid composition. ArXiv.org 452166, Cornell University.

Ernst, Michelle E; Baugh, Evan H; Thomas, Amanda; Bier, Louise; Lippa, Natalie; et al; Rauch, Anita; Joset, Pascal; Steindl, Katharina (2021). CSNK2B: A broad spectrum of neurodevelopmental disability and epilepsy severity. Epilepsia, 62(7):e103-e109.

Rechsteiner, Delia; Issler, Lydia S; Koller, Samuel; Lang, Elena; Bahr, Luzy; Feil, Silke; Rüegger, Christoph; Kottke, Raimund; Toelle, Sandra P; Zweifel, Noëmi; Steindl, Katharina; Joset, Pascal; Zweier, Markus; Suter, Aude-Annick; Gogoll, Laura; Haas, Cordula; Berger, Wolfgang; Gerth-Kahlert, Christina (2021). Genetic Analysis in a Swiss Cohort of Bilateral Congenital Cataract. JAMA Ophthalmology, 139(7):691.

Parenti, Ilaria; Lehalle, Daphné; Nava, Caroline; Torti, Erin; et al; Undiagnosed Diseases Network; Friedman, Jennifer; Joset, Pascal; Steindl, Katharina; Rauch, Anita (2021). Missense and truncating variants in CHD5 in a dominant neurodevelopmental disorder with intellectual disability, behavioral disturbances, and epilepsy. Human Genetics, 140(7):1109-1120.

Collier, Jack J; Guissart, Claire; Oláhová, Monika; Sasorith, Souphatta; Piron-Prunier, Florence; et al; Bahr, Angela; Azzarello-Burri, Silvia; Rauch, Anita (2021). Developmental Consequences of Defective ATG7-Mediated Autophagy in Humans. New England Journal of Medicine, 384(25):2406-2417.

Peluso, Francesca; Caraffi, Stefano Giuseppe; Zuntini, Roberta; Trimarchi, Gabriele; Ivanovski, Ivan; et al (2021). Whole Exome Sequencing Is the Minimal Technological Approach in Probands Born to Consanguineous Couples. Genes, 12:962.

Kummeling, Joost; Stremmelaar, Diante E; Raun, Nicholas; Reijnders, Margot R F; Willemsen, Marjolein H; Ruiterkamp-Versteeg, Martina; Schepens, Marga; Man, Calvin C O; Gilissen, Christian; Cho, Megan T; McWalter, Kirsty; Sinnema, Margje; Wheless, James W; Simon, Marleen E H; Genetti, Casie A; Casey, Alicia M; Terhal, Paulien A; van der Smagt, Jasper J; van Gassen, Koen L I; Joset, Pascal; Bahr, Angela; Steindl, Katharina; Rauch, Anita; Keller, Elmar; Raas-Rothschild, Annick; Koolen, David A; Agrawal, Pankaj B; Hoffman, Trevor L; Powell-Hamilton, Nina N; Thiffault, Isabelle; et al (2021). Characterization of SETD1A haploinsufficiency in humans and Drosophila defines a novel neurodevelopmental syndrome. Molecular Psychiatry, 26(6):2013-2024.

Lang, Elena; Koller, Samuel; Atac, David; Pfäffli, Oliver Andreas; Hanson, James V M; Feil, Silke; Bähr, Luzy; Bahr, Angela; Kottke, Raimund; Joset, Pascal; Fasler, Katrin; Barthelmes, Daniel; Steindl, Katharina; Konrad, Daniel; Wille, David-Alexander; Berger, Wolfgang; Gerth-Kahlert, Christina (2021). Genotype-phenotype spectrum in isolated and syndromic nanophthalmos. Acta Ophthalmologica, 99(4):e594-e607.

Bölsterli, Bigna K; Steindl, Katharina; Kottke, Raimund; Steinfeld, Robert; Boltshauser, Eugen (2021). Lissencephaly with Brainstem Hypoplasia and Dysplasia: Think MACF1. Neuropediatrics, 52(03):227.

Bättig, Linda; Rosch, Richard; Steindl, Katharina; Bürki, Sarah E; Ramantani, Georgia (2021). Sotos syndrome: a pitfall in the presurgical workup of temporal lobe epilepsy. Epileptic Disorders, 23(3):506-510.

Lieberwirth, Johann Kaspar; Joset, Pascal; Heinze, Anja; Hentschel, Julia; Stein, Anja; Iannaccone, Antonella; Steindl, Katharina; Kuechler, Alma; Abou Jamra, Rami (2021). Bi-allelic loss of function variants in SLC30A5 as cause of perinatal lethal cardiomyopathy. European Journal of Human Genetics, 29(5):808-815.

Lieberwirth, Johann Kaspar; Joset, Pascal; Heinze, Anja; Hentschel, Julia; Stein, Anja; Iannaccone, Antonella; Steindl, Katharina; Kuechler, Alma; Jamra, Rami Abou (2021). Correction: Bi-allelic loss of function variants in SLC30A5 as cause of perinatal lethal cardiomyopathy. European Journal of Human Genetics, 29(5):887.

Schmiady, Martin; Dave, Hitendu; Rüschoff, Jan Hendrick; Steindl, Katharina; Hübler, Michael; Schweiger, Martin (2021). Single coronary artery arising from an atretic pulmonary trunk. Asian Cardiovascular and Thoracic Annals, 29(4):327-329.

Corrêa, Thiago; Santos-Rebouças, Cíntia B; Mayndra, Maytza; Schinzel, Albert; Riegel, Mariluce; Riegel, Mariluce (2021). Shared Neurodevelopmental Perturbations Can Lead to Intellectual Disability in Individuals with Distinct Rare Chromosome Duplications. Genes, 12:632.

Meng, Linyan; Isohanni, Pirjo; Shao, Yunru; Graham, Brett H; Hickey, Scott E; Brooks, Stephanie; Suomalainen, Anu; Joset, Pascal; Steindl, Katharina; Rauch, Anita; Hackenberg, Annette; High, Frances A; Armstrong-Javors, Amy; Mencacci, Niccolò E; Gonzàlez-Latapi, Paulina; Kamel, Walaa A; Al-Hashel, Jasem Y; Bustos, Bernabé I; Hernandez, Alejandro V; Krainc, Dimitri; Lubbe, Steven J; Van Esch, Hilde; De Luca, Chiara; Ballon, Katleen; Ravelli, Claudia; Burglen, Lydie; Qebibo, Leila; Calame, Daniel G; Mitani, Tadahiro; Marafi, Dana; et al (2021). MED27 variansts cause Developmental Delay, Dystonia, and Cerebellar Hypoplasia. Annals of Neurology, 89(4):828-833.

Radio, Francesca Clementina; Pang, Kaifang; Ciolfi, Andrea; Levy, Michael A; Hernandez-Garcia, Andres; et al; Joset, Pascal; Steindl, Katharina; Rauch, Anita (2021). SPEN haploinsufficiency causes a neurodevelopmental disorder overlapping proximal 1p36 deletion syndrome with an episignature of X chromosomes in females. American Journal of Human Genetics, 108(3):502-516.

Harris, Holly K; Nakayama, Tojo; Lai, Jenny; Zhao, Boxun; et al; Asadollahi, Reza; Boonsawat, Paranchai; Rauch, Anita (2021). Disruption of RFX family transcription factors causes autism, attention-deficit/hyperactivity disorder, intellectual disability, and dysregulated behavior. Genetics in Medicine:1-13.

Rodríguez-Palmero, Agustí; Boerrigter, Melissa Maria; Gómez-Andrés, David; Aldinger, Kimberly A; et al; Rauch, Anita (2021). DLG4-related synaptopathy: a new rare brain disorder. Genetics in Medicine:1-12.

Mytils, Avishag; Kumar, Vineet; Tao, Qiu; Deis, Rachael; Levy, Karine; Masek, Markus; Eitan, Hagai; Nather, Farouq; Shawahny, Amal; Bachmann-Gagescu, Ruxandra; Roy, Sudipto; Elkouby, Yaniv M (2021). Ciliary control of meiotic chromosomal pairing mechanics and germ cell morphogenesis. bioRxiv 430249, Cold Spring Harbor Laboratory.

Johannsen, Emma B; Baughn, Linda B; Sharma, Neeraj; Zjacic, Nicolina; Pirooznia, Mehdi; Elhaik, Eran (2021). The Genetics of Sudden Infant Death Syndrome-Towards a Gene Reference Resource. Genes, 12:216.

Lenaerts, Lisa; Reynhout, Sara; Verbinnen, Iris; et al; Joset, Pascal; Steindl, Katharina; Rauch, Anita (2021). The broad phenotypic spectrum of PPP2R1A-related neurodevelopmental disorders correlates with the degree of biochemical dysfunction. Genetics in Medicine, 23(2):352-362.

Hysaj, Ola; Marqués-Gallego, Patricia; Richard, Aline; Elgizouli, Magdeldin; Nieters, Alexandra; Quack Lötscher, Katharina C; Rohrmann, Sabine (2021). Parathyroid Hormone in Pregnancy: Vitamin D and Other Determinants. Nutrients, 13:360.

Meyer, Robert; Begemann, Matthias; Hübner, Christian Thomas; Dey, Daniela; Kuechler, Alma; Elgizouli, Magdeldin; Schara, Ulrike; Ambrozaityte, Laima; Burnyte, Birute; Schröder, Carmen; Kenawy, Asmaa; Kroisel, Peter; Demuth, Stephanie; Fekete, Gyorgy; Opladen, Thomas; Elbracht, Miriam; Eggermann, Thomas (2021). One test for all: whole exome sequencing significantly improves the diagnostic yield in growth retarded patients referred for molecular testing for Silver-Russell syndrome. Orphanet Journal of Rare Diseases, 16:42.

Haug, Patricia; Koller, Samuel; Maggi, Jordi; Lang, Elena; Feil, Silke; Wlodarczyk, Agnès; Bähr, Luzy; Steindl, Katharina; Rohrbach, Marianne; Gerth-Kahlert, Christina; Berger, Wolfgang (2021). Whole Exome Sequencing in Coloboma/Microphthalmia: Identification of Novel and Recurrent Variants in Seven Genes. Genes, 12(1):E65.

2020

Schwotzer, Rahel; Flammer, Andreas J; Gerull, Sabine; Pabst, Thomas; Arosio, Paolo; Averaimo, Manuela; Bacher, Vera Ulrike; Bode, Peter; Cavalli, Andrea; Concoluci, Adalgisa; Dirnhofer, Stefan; Djerbi, Nadia; Dobner, Stefan W; Fehr, Thomas; Garofalo, Maura; Gaspert, Ariana; Heimgartner, Raphael; Hbers, Annemarie; Jung, Hans H; Kessler, Chiara; Knpfel, Raphael; Laptseva, Natallia; Manka, Robert; Mazzucchelli, Luca; Meyer, Martin; Mihaylova, Violeta; Monney, Pierre; Mylonas, Alessio; Nkoulou, Ren; Pazhenkottil, Aju; Seeger, Harald; et al (2020). Expert recommendation from the Swiss Amyloidosis Network (SAN) for systemic AL-amyloidosis. Swiss Medical Weekly, 150:w20364.

Schneeberger, Pauline E; von Elsner, Leonie; Barker, Emma L; Meinecke, Peter; Marquardt, Iris; Alawi, Malik; Steindl, Katharina; Joset, Pascal; Rauch, Anita; Zwijnenburg, Petra J G; Weiss, Marjan M; Merry, Catherine L R; Kutsche, Kerstin (2020). Bi-allelic pathogenic variants in HS2ST1 cause a syndrome characterized by developmental delay and corpus callosum, skeletal, and renal abnormalities. American Journal of Human Genetics, 107(6):1044-1061.

Giangiobbe, Sara; Caraffi, Stefano Giuseppe; Ivanovski, Ivan; Maini, Ilenia; Pollazzon, Marzia; et al (2020). Expanding the phenotype of Wiedemann-Steiner syndrome: Craniovertebral junction anomalies. American Journal of Medical Genetics. Part A, 182(12):2877-2886.

Begemann, Anaïs; Sticht, Heinrich; Begtrup, Amber; Vitobello, Antonio; Faivre, Laurence; Asadollahi, Reza; Zweier, Markus; Steindl, Katharina; Rauch, Anita (2020). New insights into the clinical and molecular spectrum of the novel CYFIP2-related neurodevelopmental disorder and impairment of the WRC-mediated actin dynamics. Genetics in Medicine:0.

Wyvekens, Nicolas; Valtcheva, Nadejda; Mischo, Axel; Helmchen, Birgit; Hermanns, Thomas; Choschzick, Matthias; Hötker, Andreas M; Rauch, Anita; Mühleisen, Beda; Akhoundova, Dilara; Weber, Achim; Moch, Holger; Rupp, Niels J (2020). Novel morphological and genetic features of fumarate hydratase deficient renal cell carcinoma in HLRCC syndrome patients with a tailored therapeutic approach. Genes, Chromosomes and Cancer, 59(11):611-619.

Marbach, Felix; Elgizouli, Magdeldin; Rech, Megan; Beygo, Jasmin; Erger, Florian; Velmans, Clara; Stumpel, Constance T R M; Stegmann, Alexander P A; Beck-Wödl, Stefanie; Gillessen-Kaesbach, Gabriele; Horsthemke, Bernhard; Schaaf, Christian P; Kuechler, Alma (2020). The adult phenotype of Schaaf-Yang syndrome. Orphanet Journal of Rare Diseases, 15:294.

Paul, Luisa; Rupprich, Katrin; Della Marina, Adela; Stein, Anja; Elgizouli, Magdeldin; Kaiser, Frank J; Schweiger, Bernd; Köninger, Angela; Iannaccone, Antonella; Hehr, Ute; Kölbel, Heike; Roos, Andreas; Schara-Schmidt, Ulrike; Kuechler, Alma (2020). Further evidence for POMK as candidate gene for WWS with meningoencephalocele. Orphanet Journal of Rare Diseases, 15:242.

Oneda, Beatrice; Sirleto, Pietro; Baldinger, Rosa; Taralczak, Malgorzata; Joset, Pascal; Zweier, Markus; Niedrist, Dunja; Azzarello-Burri, Silvia; Britschgi, Christian; Breymann, Christian; Ochsenbein-Kölble, Nicole; Burkhardt, Tilo; Wisser, Josef; Zimmermann, Roland; Steindl, Katharina; Rauch, Anita (2020). Genome-wide non-invasive prenatal testing in single- and multiple-pregnancies at any risk: Identification of maternal polymorphisms to reduce the number of unnecessary invasive confirmation testing. European Journal of Obstetrics, Gynecology, and Reproductive Biology, 252:19-29.

Suter, Aude-Annick; Santos-Simarro, Fernando; Toerring, Pernille Mathiesen; Abad Perez, Angela; Ramos-Mejia, Rosario; Heath, Karen E; Huckstadt, Victoria; Parrón-Pajares, Manuel; Mensah, Martin Atta; Hülsemann, Wiebke; Holtgrewe, Manuel; Mundlos, Stefan; Kornak, Uwe; Bartsch, Oliver; Ehmke, Nadja (2020). Variable pulmonary manifestations in Chitayat syndrome: Six additional affected individuals. American Journal of Medical Genetics. Part A, 182(9):2068-2076.

Asadollahi, Reza; Britschgi, Christian; Joset, Pascal; Oneda, Beatrice; Schindler, Detlev; Meier, Urs R; Rauch, Anita (2020). Severe reaction to radiotherapy provoked by hypomorphic germline mutations in ATM (ataxia-telangiectasia mutated gene). Molecular Genetics & Genomic Medicine:e1409.

Meerschaut, Ilse; De Coninck, Shana; Steyaert, Wouter; et al; Rauch, Anita (2020). A clinical scoring system for congenital contractural arachnodactyly. Genetics in Medicine, 22(1):124-131.

Asadollahi, Hamid; Vakili, Mahmoud; Asadollahi, Reza (2020). Applying Rogers' framework to evaluate public awareness and knowledge of medical genetics in a developing country. Journal of Community Genetics, 11(3):367-375.

Wälchli, Regula; Knöpfel, Nicole; Steindl, Katharina; Kernland-Lang, Kristin; Theiler, Martin; Weibel, Lisa (2020). Periorbital pigmented skin tags and milia. Pediatric Dermatology, 37(4):740-741.

Trück, Johannes; Prader, Seraina; Natalucci, Giancarlo; Hagmann, Cornelia; Brotschi, Barbara; Kelly, Janet; Bassler, Dirk; Steindl, Katharina; Rauch, Anita; Baumgartner, Matthias; Fingerhut, Ralph; Hauri-Hohl, Mathias; Güngör, Tayfun; Pachlopnik Schmid, Jana; Berger, Christoph; Reichenbach, Janine (2020). Swiss newborn screening for severe T and B cell deficiency with a combined TREC/KREC assay – management recommendations. Swiss Medical Weekly:w20254.

Ivanovski, Ivan; Djuric, Olivera; Broccoli, Serena; Caraffi, Stefano Giuseppe; et al (2020). Mowat-Wilson syndrome: growth charts. Orphanet Journal of Rare Diseases, 15:151.

Nasser, Hala; Vera, Liza; Elmaleh-Bergès, Monique; Steindl, Katharina; Letard, Pascaline; Teissier, Natacha; Ernault, Anais; Guimiot, Fabien; Afenjar, Alexandra; Moutard, Marie Laure; Héron, Delphine; Alembik, Yves; Momtchilova, Martha; Milani, Paolo; Kubis, Nathalie; Pouvreau, Nathalie; Zollino, Marcella; Guilmin Crepon, Sophie; Kaguelidou, Florentia; Gressens, Pierre; Verloes, Alain; Rauch, Anita; El Ghouzzi, Vincent; Drunat, Severine; Passemard, Sandrine (2020). CDK5RAP2 primary microcephaly is associated with hypothalamic, retinal and cochlear developmental defects. Journal of Medical Genetics, 57(6):389-399.

Lang, Elena; Koller, Samuel; Bähr, Luzy; Töteberg-Harms, Marc; Atac, David; Roulez, Françoise; Bahr, Angela; Steindl, Katharina; Feil, Silke; Berger, Wolfgang; Gerth-Kahlert, Christina (2020). Exome Sequencing in a Swiss Childhood Glaucoma Cohort Reveals CYP1B1 and FOXC1 Variants as Most Frequent Causes. Translational vision science & technology, 9(7):47.

Latour, Brooke L; Van De Weghe, Julie C; Rusterholz, Tamara D S; Letteboer, Stef J F; Gomez, Arianna; Shaheen, Ranad; Gesemann, Matthias; Karamzade, Arezou; Asadollahi, Mostafa; Barroso-Gil, Miguel; Chitre, Manali; Grout, Megan E; van Reeuwijk, Jeroen; van Beersum, Sylvia E C; Miller, Caitlin V; Dempsey, Jennifer C; Morsy, Heba; Bamshad, Michael J; Nickerson, Deborah A; Neuhauss, Stephan C F; Boldt, Karsten; Ueffing, Marius; Keramatipour, Mohammad; Sayer, John A; Alkuraya, Fowzan S; Bachmann-Gagescu, Ruxandra; Roepman, Ronald; Doherty, Dan (2020). Dysfunction of the ciliary ARMC9/TOGARAM1 protein module causes Joubert syndrome. Journal of Clinical Investigation, 130(8):4423-4439.

Ansar, Muhammad; Ebstein, Frédéric; Özkoç, Hayriye; Paracha, Sohail A; Iwaszkiewicz, Justyna; Gesemann, Matthias; Zoete, Vincent; Ranza, Emmanuelle; Santoni, Federico A; Sarwar, Muhammad T; Ahmed, Jawad; Krüger, Elke; Bachmann-Gagescu, Ruxandra; Antonarakis, Stylianos E (2020). Biallelic variants in PSMB1 encoding the proteasome subunit β6 cause impairment of proteasome function, microcephaly, intellectual disability, developmental delay and short stature. Human Molecular Genetics, 29(7):1132-1143.

Tutschek, Boris; Mayer, Karin; Rauch, Anita (2020). Fetal tuberous sclerosis and the diagnosis of paternal gonadal mosaicism. Ultrasound in Obstetrics & Gynecology, 55(5):691-692.

Zanoni, Paolo; von Eckardstein, Arnold (2020). Inborn errors of apolipoprotein A-I metabolism: implications for disease, research and development. Current Opinion in Lipidology, 31(2):62-70.

Jagannath, Vinita; Grünblatt, Edna; Theodoridou, Anastasia; Oneda, Beatrice; Roth, Alexander; Gerstenberg, Miriam; Franscini, Maurizia; Traber‐Walker, Nina; Correll, Christoph U; Heekeren, Karsten; Rössler, Wulf; Rauch, Anita; Walitza, Susanne (2020). Rare copy number variants in individuals at clinical high risk for psychosis: Enrichment of synaptic/brain‐related functional pathways. American Journal of Medical Genetics. Part B: Neuropsychiatric Genetics, 183(2):140-151.

Delaney, Angela; Volochayev, Rita; Meader, Brooke; Lee, Janice; Almpani, Konstantinia; Noukelak, Germaine Y; Henkind, Jennifer; Chalmers, Laura; Law, Jennifer R; Williamson, Kathleen A; Jacobsen, Christina M; Buitrago, Tatiana Pineda; Perez, Orlando; Cho, Chie-Hee; Kaindl, Angela; Rauch, Anita; Steindl, Katharina; Garcia, Jose Elias; Russell, Bianca E; Prasad, Rameshwar; Mondal, Uttam K; Reigstad, Hallvard M; Clements, Scott; Kim, Susan; Inoue, Kaoru; Arora, Gazal; Salnikov, Kathryn B; DiOrio, Nicole P; Prada, Rolando; Capri, Yline; et al (2020). Insight Into the ontogeny of GnRH neurons from patients born without a nose. Journal of Clinical Endocrinology & Metabolism, 105(5):1538-1551.

Johnson, Brett V; Kumar, Raman; Oishi, Sabrina; et al; Rauch, Anita; Steindl, Katharina; Joset, Pascal (2020). Partial Loss of USP9X Function Leads to a Male Neurodevelopmental and Behavioral Disorder Converging on Transforming Growth Factor β Signaling. Biological Psychiatry, 87(2):100-112.

Werling, Anna Maria; Grünblatt, Edna; Oneda, Beatrice; Bobrowski, Elise; Gundelfinger, Ronnie; Taurines, Regina; Romanos, Marcel; Rauch, Anita; Walitza, Susanne (2020). High-resolution chromosomal microarray analysis for copy-number variations in high-functioning autism reveals large aberration typical for intellectual disability. Journal of Neural Transmission, 127(1):81-94.

Bachmann-Gagescu, Ruxandra; Dempsey, Jennifer C; Bulgheroni, Sara; Chen, Maida L; D'Arrigo, Stefano; Glass, Ian A; Heller, Theo; Héon, Elise; Hildebrandt, Friedhelm; Joshi, Nirmal; Knutzen, Dana; Kroes, Hester Y; Mack, Stephen H; Nuovo, Sara; Parisi, Melissa A; Snow, Joseph; Summers, Angela C; Symons, Jordan M; Zein, Wadih M; Boltshauser, Eugen; Sayer, John A; Gunay-Aygun, Meral; Valente, Enza Maria; Doherty, Dan (2020). Healthcare recommendations for Joubert syndrome. American Journal of Medical Genetics. Part A, 182(1):229-249.

2019

Begemann, Anaïs; Acuña, Mario A; Zweier, Markus; Vincent, Marie; Steindl, Katharina; Bachmann-Gagescu, Ruxandra; Hackenberg, Annette; Abela, Lucia; Plecko, Barbara; Kroell-Seger, Judith; Baumer, Alessandra; Yamakawa, Kazuhiro; Inoue, Yushi; Asadollahi, Reza; Sticht, Heinrich; Zeilhofer, Hanns Ulrich; Rauch, Anita (2019). Further corroboration of distinct functional features in SCN2A variants causing intellectual disability or epileptic phenotypes. Molecular Medicine, 25:6.

Clerc, Valérie (2019). Neue Grundlagen für Gesundheitsfachleute. Schweizerische Ärztezeitung (SÄZ), 100(46):1535.

Rauch, Anita; Abt, Simone; Allemann, Samuel; Antonarakis, Stylianos E; Beernewinkel, Niko; Britschgi, Christian; Colomer-Lahiguera, Sara; Coukos, George; Eicher, Manuela; Fokstuen, Siv; Gallati, Sabina; Gerber-Grote, Andreas; Hemkens, Lars; Hersberger, Kurt E; Hunziker, Sabina; Kandalaft, Lana; Langewitz, Wolf; Meyer zu Schwabedissen, Henriette E; Michelien, Olivier; Müller, Marc; Peters, Solange; Probst-Hensch, Nicole; Szucs, Thomas (2019). Personalisierte Medizin: Grundlagen für die interprofessionelle Aus-, Weiter- und Fortbildung von Gesundheitsfachleuten. Swiss Academies. Communications, 14(6):1-134.

Vasileiou, Georgia; Hoyer, Juliane; Thiel, Christian T; Schaefer, Jan; Zapke, Maren; Krumbiegel, Mandy; Kraus, Cornelia; Zweier, Markus; Uebe, Steffen; Ekici, Arif B; Schneider, Michael; Wiesener, Michael; Rauch, Anita; Faschingbauer, Florian; Reis, André; Zweier, Christiane; Popp, Bernt (2019). Prenatal diagnosis of HNF1B-associated renal cysts: Is there a need to differentiate intragenic variants from 17q12 microdeletion syndrome? Prenatal Diagnosis, 39(12):1136-1147.

Latour, Brooke L; Van De Weghe, Julie C; Rusterholz, Tamara D S; Letteboer, Stef J F; Gomez, Arianna; Shaheen, Ranad; Gesemann, Matthias; Grout, Megan E; van Reeuwijk, Jeroen; van Beersum, Sylvia E C; Miller, Caitlin V; Dempsey, Jennifer C; Morsy, Heba; Bamshad, Michael J; Nickerson, Deborah A; Neuhauss, Stephan C F; Boldt, Karsten; Ueffing, Marius; Alkuraya, Fowzan S; Bachmann-Gagescu, Ruxandra; Roepman, Ronald; Doherty, Dan (2019). ARMC9 and TOGARAM1 define a Joubert syndrome-associated protein module that regulates axonemal post-translational modifications and cilium stability. bioRxiv 817213, Cold Spring Harbor Laboratory.

Accogli, Andrea; Calabretta, Sara; St-Onge, Judith; Boudrahem-Addour, Nassima; Dionne-Laporte, Alexandre; Joset, Pascal; Azzarello-Burri, Silvia; Rauch, Anita; et al; Undiagnosed Diseases Network (UDN) (2019). De Novo Pathogenic Variants in N-cadherin Cause a Syndromic Neurodevelopmental Disorder with Corpus Collosum, Axon, Cardiac, Ocular, and Genital Defects. American Journal of Human Genetics, 105(4):854-868.

Ruperti-Repilado, Francisco Javier; Haefliger, Simon; Rehm, Sophia; Zweier, Markus; Rentsch, Katharina M; Blum, Johannes; Jetter, Alexander; Heim, Markus; Leuppi-Taegtmeyer, Anne; Terracciano, Luigi; Bernsmeier, Christine (2019). Danger of Herbal Tea: A Case of Acute Cholestatic Hepatitis Due to Artemisia annua Tea. Frontiers in Medicine, 6:221.

Gaisl, Odile; Konrad, Daniel; Joset, Pascal; Lang-Muritano, Mariarosaria (2019). A novel GATA6 variant in a boy with neonatal diabetes and diaphragmatic hernia: a familial case with a review of the literature. Journal of Pediatric Endocrinology & Metabolism, 32(9):1027-1030.

Korotcenko, L; Azzarello-Burri, Silvia; Baumer Wolz, Alessandra; Hillinger, S; Weder, W; Opitz, Isabelle; Lauk, O (2019). New genetic test leads to Birt-Hogg-Dubé syndrome: A case report. In: DACH-Jahrestagung Thoraxchirurgie, Salzburg, 29 September 2019 - 1 October 2019. Georg Thieme Verlag, S100.

Boonsawat, Paranchai; Joset, Pascal; Steindl, Katharina; Oneda, Beatrice; Gogoll, Laura; Azzarello-Burri, Silvia; Sheth, Frenny; Datar, Chaitanya; Verma, Ishwar C; Puri, Ratna Dua; Zollino, Marcella; Bachmann-Gagescu, Ruxandra; Niedrist, Dunja; Papik, Michael; Figueiro-Silva, Joana; Masood, Rahim; Zweier, Markus; Kraemer, Dennis; Lincoln, Sharyn; Rodan, Lance; Undiagnosed Diseases Network (UDN); et al; Steinfeld, Robert; Plecko, Barbara; Latal, Beatrice; Jenni, Oskar; Asadollahi, Reza; Rauch, Anita (2019). Elucidation of the phenotypic spectrum and genetic landscape in primary and secondary microcephaly. Genetics in Medicine, 21(9):2043-2058.

Kraemer, Dennis; Azzarello-Burri, Silvia; Steindl, Katharina; Boonsawat, Paranchai; Zweier, Markus; Dedes, Konstantin J; Joset, Pascal; Fink, Daniel; Rauch, Anita (2019). Prevalence of genetic susceptibility for breast and ovarian cancer in a non-cancer related study population: secondary germline findings from a Swiss single centre cohort. Swiss Medical Weekly, 149:w20092.

Bachmann-Gagescu, Ruxandra (2019). A new mouse model for the neurodevelopmental ciliopathy Joubert syndrome. Journal of Pathology, 248(4):393-395.

Hauer, Nadine N; Popp, Bernt; Taher, Leila; Vogl, Carina; et al; Rauch, Anita (2019). Evolutionary conserved networks of human height identify multiple Mendelian causes of short stature. European Journal of Human Genetics, 27(7):1061-1071.

O'Donnell-Luria, Anne H; Pais, Lynn S; Faundes, Víctor; et al; Joset, Pascal; Rauch, Anita; Steindl, Katharina (2019). Heterozygous Variants in KMT2E Cause a Spectrum of Neurodevelopmental Disorders and Epilepsy. American Journal of Human Genetics, 104(6):1210-1222.

Bachmann-Gagescu, Ruxandra; Neuhauss, Stephan C F (2019). The photoreceptor cilium and its diseases. Current Opinion in Genetics & Development, 56:22-33.

Zweier, Markus; Begemann, Anaïs; McWalter, Kirsty; Cho, Megan T; Abela, Lucia; et al; Deciphering Developmental Disorders (DDD) Study; Steindl, Katharina; Rauch, Anita (2019). Spatially clustering de novo variants in CYFIP2, encoding the cytoplasmic FMRP interacting protein 2, cause intellectual disability and seizures. European Journal of Human Genetics, 27(5):747-759.

Hiatt, Susan M; Thompson, Michelle L; Prokop, Jeremy W; Lawlor, James M J; Gray, David E; Bebin, E Martina; Rinne, Tuula; Kempers, Marlies; Pfundt, Rolph; van Bon, Bregje W; Mignot, Cyril; Nava, Caroline; Depienne, Christel; Kalsner, Louisa; Rauch, Anita; Joset, Pascal; Bachmann-Gagescu, Ruxandra; Wentzensen, Ingrid M; McWalter, Kirsty; Cooper, Gregory M (2019). Deleterious Variation in BRSK2 Associates with a Neurodevelopmental Disorder. American Journal of Human Genetics, 104(4):701-708.

Tran Mau-Them, F; Guibaud, L; Duplomb, L; Keren, B; Lindstrom, K; Marey, I; Mochel, F; et al; Zweier, M; Schmitt-Mechelke, T (2019). De novo truncating variants in the intronless IRF2BPL are responsible for developmental epileptic encephalopathy. Genetics in Medicine, 21(4):1008-1014.

Vuillaume, Marie-Laure; Moizard, Marie-Pierre; Baumer, Alessandra; Cottereau, Edouard; Brioude, Frédéric; Rauch, Anita; Toutain, Annick (2019). CUGC for Simpson-Golabi-Behmel syndrome (SGBS). European Journal of Human Genetics, 27(4):663-668.

Rauch, Anita (2019). Genetik Chance und Dilemma. Schweizerische Ärztezeitung (SÄZ), 100(11):381-383.

Papuc, Sorina M; Abela, Lucia; Steindl, Katharina; Begemann, Anaïs; Simmons, Thomas L; Schmitt, Bernhard; Zweier, Markus; Oneda, Beatrice; Socher, Eileen; Crowther, Lisa M; Wohlrab, Gabriele; Gogoll, Laura; Poms, Martin; Seiler, Michelle; Papik, Michael; Baldinger, Rosa; Baumer, Alessandra; Asadollahi, Reza; Kroell-Seger, Judith; Schmid, Regula; Iff, Tobias; Schmitt-Mechelke, Thomas; Otten, Karoline; Hackenberg, Annette; Addor, Marie-Claude; Klein, Andrea; Azzarello-Burri, Silvia; Sticht, Heinrich; Joset, Pascal; Plecko, Barbara; Rauch, Anita (2019). The role of recessive inheritance in early-onset epileptic encephalopathies: a combined whole-exome sequencing and copy number study. European Journal of Human Genetics, 27(3):408-421.

Kurtas, Nehir Edibe; Xumerle, Luciano; Leonardelli, Lorena; Delledonne, Massimo; Brusco, Alfredo; Chrzanowska, Krystyna; Schinzel, Albert; Larizza, Daniela; Guerneri, Silvana; Natacci, Federica; Bonaglia, Maria Clara; Reho, Paolo; Manolakos, Emmanouil; Mattina, Teresa; Soli, Fiorenza; Provenzano, Aldesia; Al-Rikabi, Ahmed H; Errichiello, Edoardo; Nazaryan-Petersen, Lusine; Giglio, Sabrina; Tommerup, Niels; Liehr, Thomas; Zuffardi, Orsetta (2019). Small supernumerary marker chromosomes: A legacy of trisomy rescue? Human Mutation, 40(2):193-200.

Kleine-Eggebrecht, Nicola; Staufner, Christian; Kathemann, Simone; Elgizouli, Magdeldin; Kopajtich, Robert; Prokisch, Holger; Lainka, Elke (2019). Mutation in ITCH Gene Can Cause Syndromic Multisystem Autoimmune Disease With Acute Liver Failure. Pediatrics, 143(2):e20181554.

van Gijn, Stephanie; Wierenga, Elles; van den Tempel, Nathalie; Kok, Yannick P; Heijink, Anne Margriet; Spierings, Diana C J; Foijer, Floris; van Vugt, Marcel A T M; Fehrmann, Rudolf S N (2019). TPX2/Aurora kinase A signaling as a potential therapeutic target in genomically unstable cancer cells. Oncogene, 38(6):852-867.

Heijink, Anne Margriet; Talens, Francien; Jae, Lucas T; van Gijn, Stephanie; Fehrmann, Rudolf S N; Brummelkamp, Thijn R; van Vugt, Marcel A T M (2019). BRCA2 deficiency instigates cGAS-mediated inflammatory signaling and confers sensitivity to tumor necrosis factor-alpha-mediated cytotoxicity. Nature Communications, 10(1):100.

Niedrist, Dunja; Oneda, Beatrice; Rauch, Anita (2019). Präimplantationsdiagnostik in der Schweiz: Möglichkeiten und Probleme. Swiss Medical Forum, 2019(19):21-23.

2018

Lampart, Simon; Azzarello-Burri, Silvia; Henzen, Christoph; Fischli, Stefan (2018). Special form of osteoporosis in a 53-year-old man. BMJ Case Reports, 11(1):e226672.

Stephen, Joshi; Maddirevula, Sateesh; Nampoothiri, Sheela; et al; Steindl, Katharina; Joset, Pascal; Ramantani, Georgia (2018). Bi-allelic TMEM94 Truncating Variants Are Associated with Neurodevelopmental Delay, Congenital Heart Defects, and Distinct Facial Dysmorphism. American Journal of Human Genetics, 103(6):948-967.

Popp, Bernt; Krumbiegel, Mandy; Grosch, Janina; Sommer, Annika; Uebe, Steffen; Kohl, Zacharias; Plötz, Sonja; Farrell, Michaela; Trautmann, Udo; Kraus, Cornelia; Ekici, Arif B; Asadollahi, Reza; Regensburger, Martin; Günther, Katharina; Rauch, Anita; Edenhofer, Frank; Winkler, Jürgen; Winner, Beate; Reis, André (2018). Need for high-resolution Genetic Analysis in iPSC: Results and Lessons from the ForIPS Consortium. Scientific Reports, 8:17201.

Romano, Maria-Teresa; Tafazzoli, Aylar; Mattern, Maximilian; Sivalingam, Sugirthan; Wolf, Sabrina; Rupp, Alexander; Thiele, Holger; Altmüller, Janine; Nürnberg, Peter; Ellwanger, Jürgen; Gambon, Reto; Baumer, Alessandra; et al (2018). Bi-allelic Mutations in LSS, Encoding Lanosterol Synthase, Cause Autosomal-Recessive Hypotrichosis Simplex. American Journal of Human Genetics, 103(5):777-785.

Romano, Maria-Teresa; Tafazzoli, Aylar; Mattern, Maximilian; Sivalingam, Sugirthan; Wolf, Sabrina; Rupp, Alexander; Thiele, Holger; Altmüller, Janine; Nürnberg, Peter; Ellwanger, Jürgen; Gambon, Reto; Baumer Wolz, Alessandra; Kohlschmidt, Nicolai; Metze, Dieter; Holdenrieder, Stefan; Paus, Ralf; Lütjohann, Dieter; Frank, Jorge; Geyer, Matthias; Bertolini, Marta; Kokordelis, Pavlos; Betz, Regina C (2018). Bi-allelic Mutations in LSS, Encoding Lanosterol Synthase, Cause Autosomal-Recessive Hypotrichosis Simplex. American Journal of Human Genetics, 103(5):777-785.

Filges, Isabel; Bartholdi, Deborah; Cichon, Sven; Niedrist, Dunja; Porret, Naomi A; Rauch, Anita; Saller, Elisabeth; von Känel, Thomas; Fokstuen, Siv (2018). Entwicklung der genetischen und genomischen Medizin in der Schweiz. Schweizerische Ärztezeitung (SÄZ), 99(41):1418-1420.

Ivanovski, Ivan; Djuric, Olivera; Caraffi, Stefano Giuseppe; Santodirocco, Daniela; Pollazzon, Marzia; Rosato, Simonetta; Cordelli, Duccio Maria; et al; Rauch, Anita (2018). Phenotype and genotype of 87 patients with Mowat-Wilson syndrome and recommendations for care. Genetics in Medicine, 20(9):965-975.

Ojeda Naharros, Irene; Cristian, Flavia B; Zang, Jingjing; Gesemann, Matthias; Ingham, Philip W; Neuhauss, Stephan C F; Bachmann-Gagescu, Ruxandra (2018). Publisher Correction: The ciliopathy protein TALPID3/KIAA0586 acts upstream of Rab8 activation in zebrafish photoreceptor outer segment formation and maintenance. Scientific Reports, 8:12534.

Gregor, Anne; Sadleir, Lynette G; Asadollahi, Reza; Azzarello-Burri, Silvia; et al (2018). De Novo Variants in the F-Box Protein FBXO11 in 20 Individuals with a Variable Neurodevelopmental Disorder. American Journal of Human Genetics, 103(2):305-316.

Nahorski, Michael S; Maddirevula, Sateesh; Ishimura, Ryosuke; et al; Begemann, Anaïs; Rauch, Anita (2018). Biallelic UFM1 and UFC1 mutations expand the essential role of ufmylation in brain development. Brain: a journal of neurology, 141(7):1934-1945.

Stellacci, Emilia; Steindl, Katharina; Joset, Pascal; Mercurio, Laura; Anselmi, Massimiliano; Cecchetti, Serena; Gogoll, Laura; Zweier, Markus; Hackenberg, Annette; Bocchinfuso, Gianfranco; Stella, Lorenzo; Tartaglia, Marco; Rauch, Anita (2018). Clinical and functional characterization of two novel ZBTB20 mutations causing Primrose syndrome. Human Mutation, 39(7):959-964.

Hauer, Nadine N; Popp, Bernt; Schoeller, Eva; et al; Rauch, Anita (2018). Clinical relevance of systematic phenotyping and exome sequencing in patients with short stature. Genetics in Medicine, 20(6):630-638.

Hanemaaijer, Saskia H; van Gijn, Stephanie; Oosting, Sjoukje F; Plaat, Boudewijn E C; Moek, Kirsten L; Schuuring, Ed M; van der Laan, Bernard F A M; Roodenburg, Jan L N; van Vugt, Marcel A T M; van der Vegt, Bert; Fehrmann, Rudolf S N (2018). Data-Driven prioritisation of antibody-drug conjugate targets in head and neck squamous cell carcinoma. Oral Oncology, 80:33-39.

Wallis, Mathew; Baumer, Alessandra; Smaili, Wiam; Jaouad, Imane Cherkaoui; Sefiani, Abdelaziz; Jacobson, Erica; Bowyer, Lucy; Mowat, David; Rauch, Anita (2018). Surprisingly good outcome in antenatal diagnosis of severe hydrocephalus related to CCDC88C deficiency. European Journal of Medical Genetics, 61(4):189-196.

Létard, Pascaline; Drunat, Séverine; Vial, Yoann; Duerinckx, Sarah; Ernault, Anais; Amram, Daniel; Arpin, Stéphanie; Bertoli, Marta; Busa, Tiffany; Ceulemans, Berten; Desir, Julie; Doco-Fenzy, Martine; Elalaoui, Siham Chafai; Devriendt, Koenraad; Faivre, Laurence; Francannet, Christine; Geneviève, David; Gérard, Marion; Gitiaux, Cyril; Julia, Sophie; Lebon, Sébastien; Lubala, Toni; Mathieu-Dramard, Michèle; Maurey, Hélène; Metreau, Julia; Nasserereddine, Sanaa; Nizon, Mathilde; Pierquin, Geneviève; Pouvreau, Nathalie; Rivier-Ringenbach, Clothilde; et al (2018). Autosomal recessive primary microcephaly due to ASPM mutations: An update. Human Mutation, 39(3):319-332.

Ojeda Naharros, Irene; Cristian, Flavia B; Zang, Jingjing; Gesemann, Matthias; Ingham, Philip W; Neuhauss, Stephan C F; Bachmann-Gagescu, Ruxandra (2018). The ciliopathy protein TALPID3/KIAA0586 acts upstream of Rab8 activation in zebrafish photoreceptor outer segment formation and maintenance. Scientific Reports, 8:2211.

Bachmann-Gagescu, Ruxandra (2018). Génétique médicale: Conséquences du diagnostic ­génétique «next generation». Swiss Medical Forum, 18(1-2):16-18.

Pasutto, Francesca; Flinter, Frances; Rauch, Anita; Reis, André (2018). Novel STRA6 null mutations in the original family described with Matthew-Wood syndrome. American Journal of Medical Genetics. Part A, 176(1):134-138.

Asadollahi, Reza; Strauss, Justin E; Zenker, Martin; Beuing, Oliver; Edvardson, Simon; Elpeleg, Orly; Strom, Tim M; Joset, Pascal; Niedrist, Dunja; Otte, Christine; Oneda, Beatrice; Boonsawat, Paranchai; Azzarello-Burri, Silvia; Bartholdi, Deborah; Papik, Michael; Zweier, Markus; Haas, Cordula; Ekici, Arif B; Baumer, Alessandra; Boltshauser, Eugen; Steindl, Katharina; Nothnagel, Michael; Schinzel, Albert; Stoeckli, Esther T; Rauch, Anita (2018). Clinical and experimental evidence suggest a link between KIF7 and C5orf42-related ciliopathies through Sonic Hedgehog signaling. European Journal of Human Genetics, 26(2):197-209.

Phelps, Ian G; Dempsey, Jennifer C; Grout, Megan E; Isabella, Christine R; Tully, Hannah M; Doherty, Dan; Bachmann-Gagescu, Ruxandra (2018). Interpreting the clinical significance of combined variants in multiple recessive disease genes: systematic investigation of Joubert syndrome yields little support for oligogenicity. Genetics in Medicine, 20(2):223-233.

2017

Ojeda Naharros, Irene; Gesemann, Matthias; Mateos, José M; Barmettler, Gery; Forbes, Austin; Ziegler, Urs; Neuhauss, Stephan C F; Bachmann-Gagescu, Ruxandra (2017). Loss-of-function of the ciliopathy protein Cc2d2a disorganizes the vesicle fusion machinery at the periciliary membrane and indirectly affects Rab8-trafficking in zebrafish photoreceptors. PLoS Genetics, 13(12):e1007150.

Hackenberg, Annette; Boltshauser, Eugen; Gerth-Kahlert, Christina; Stahr, Nikolai; Azzarello-Burri, Silvia; Plecko, Barbara (2017). Horizontal gaze palsy in two brothers with compound heterozygous ROBO3 gene mutations. Neuropediatrics, 48(01):57-58.

Tan, Tiong Yang; Gonzaga-Jauregui, Claudia; Bhoj, Elizabeth J; et al; Steindl, Katharina; Joset, Pascal; Rauch, Anita (2017). Monoallelic BMP2 Variants Predicted to Result in Haploinsufficiency Cause Craniofacial, Skeletal, and Cardiac Features Overlapping Those of 20p12 Deletions. American Journal of Human Genetics, 101(6):985-994.

Grünblatt, Edna; Oneda, Beatrice; Ekici, Arif B; Ball, Juliane; Geissler, Julia; Uebe, Steffen; Romanos, Marcel; Rauch, Anita; Walitza, Susanne (2017). High resolution chromosomal microarray analysis in paediatric obsessive-compulsive disorder. BMC Medical Genomics, 10(1):68.

Mateos, José M; Barmettler, Gery; Doehner, Jana; Ojeda Naharros, Irene; Guhl, Bruno; Neuhauss, Stephan C F; Kaech, Andres; Bachmann-Gagescu, Ruxandra; Ziegler, Urs (2017). Correlative super-resolution and electron microscopy to resolve protein localization in zebrafish retina. Journal of Visualized Experiments (Jove), 129:e56113.

Hamilton, Eline M C; Bertini, Enrico; Kalaydjieva, Luba; Morar, Bharti; Dojčáková, Dana; Liu, Judy; Vanderver, Adeline; Curiel, Julian; Persoon, Claudia M; Diodato, Daria; Pinelli, Lorenzo; van der Meij, Nathalie L; Plecko, Barbara; Blaser, Susan; Wolf, Nicole I; Waisfisz, Quinten; Abbink, Truus E M; van der Knaap, Marjo S; Recessive H-ABC Research Group (2017). UFM1 founder mutation in the Roma population causes recessive variant of H-ABC. Neurology, 89(17):1821-1828.

Asadollahi, Reza; Zweier, Markus; Gogoll, Laura; Schiffmann, Raphael; Sticht, Heinrich; Steindl, Katharina; Rauch, Anita (2017). Genotype-phenotype evaluation of MED13L defects in the light of a novel truncating and a recurrent missense mutation. European Journal of Medical Genetics, 60(9):451-464.

Gerth-Kahlert, Christina; Tiwari, Amit; Hanson, James V M; Batmanabane, Vaishnavi; Traboulsi, Elias; Pennesi, Mark E; Al-Qahtani, Abdullah A; Lam, Byron L; Heckenlively, John; Zweifel, Sandrine A; Vincent, Ajoy; Fierz, Fabienne; Barthelmes, Daniel; Branham, Kari; Khan, Naheed; Bahr, Angela; Baehr, Luzy; Magyar, István; Koller, Samuel; Azzarello-Burri, Silvia; Niedrist, Dunja; Heon, Elise; Berger, Wolfgang (2017). C2orf71 Mutations as a Frequent Cause of Autosomal-Recessive Retinitis Pigmentosa: Clinical Analysis and Presentation of 8 Novel Mutations. Investigative Ophthalmology & Visual Science [IOVS], 58(10):3840-3850.

Oneda, Beatrice; Asadollahi, Reza; Azzarello-Burri, Silvia; Niedrist, Dunja; Baldinger, Rosa; Masood, Rahim; Schinzel, Albert; Latal, Bea; Jenni, Oskar G; Rauch, Anita (2017). Low-Level Chromosomal Mosaicism in Neurodevelopmental Disorders. Molecular Syndromology, 8(5):266-271.

Van De Weghe, Julie C; Rusterholz, Tamara D S; Latour, Brooke; Grout, Megan E; Aldinger, Kimberly A; Shaheen, Ranad; Dempsey, Jennifer C; Maddirevula, Sateesh; Cheng, Yong-Han H; Phelps, Ian G; Gesemann, Matthias; Goel, Himanshu; Birk, Ohad S; Alanzi, Talal; Rawashdeh, Rifaat; Khan, Arif O; Bamshad, Michael J; Nickerson, Deborah A; Neuhauss, Stephan C F; Dobyns, William B; Alkuraya, Fowzan S; Roepman, Ronald; Bachmann-Gagescu, Ruxandra; Doherty, Dan (2017). Mutations in ARMC9, which Encodes a Basal Body Protein, Cause Joubert Syndrome in Humans and Ciliopathy Phenotypes in Zebrafish. American Journal of Human Genetics, 101(1):23-36.

Oneda, Beatrice; Rauch, Anita (2017). Microarrays in prenatal diagnosis. Best Practice & Research. Clinical Obstetrics & Gynaecology, 42:53-63.

Lehalle, Daphné; Mosca-Boidron, Anne-Laure; Begtrup, Amber; Boute-Benejean, Odile; Charles, Perrine; Cho, Megan T; Clarkson, Amanda; Devinsky, Orrin; Duffourd, Yannis; Duplomb-Jego, Laurence; Gérard, Bénédicte; Jacquette, Aurélia; Kuentz, Paul; Masurel-Paulet, Alice; McDougall, Carey; Moutton, Sébastien; Olivié, Hilde; Park, Soo-Mi; Rauch, Anita; Revencu, Nicole; Rivière, Jean-Baptiste; Rubin, Karol; Simonic, Ingrid; Shears, Deborah J; Smol, Thomas; Taylor Tavares, Ana Lisa; Terhal, Paulien; Thevenon, Julien; Van Gassen, Koen; Vincent-Delorme, Catherine; et al (2017). STAG1 mutations cause a novel cohesinopathy characterised by unspecific syndromic intellectual disability. Journal of Medical Genetics, 54(7):479-488.

Gabriele, Michele; Vulto-van Silfhout, Anneke T; Germain, Pierre-Luc; Vitriolo, Alessandro; Kumar, Raman; Douglas, Evelyn; Haan, Eric; Kosaki, Kenjiro; Takenouchi, Toshiki; Rauch, Anita; Steindl, Katharina; Frengen, Eirik; Misceo, Doriana; Pedurupillay, Christeen Ramane J; Stromme, Petter; Rosenfeld, Jill A; Shao, Yunru; Craigen, William J; Schaaf, Christian P; Rodriguez-Buritica, David; Farach, Laura; Friedman, Jennifer; Thulin, Perla; McLean, Scott D; Nugent, Kimberly M; Morton, Jenny; Nicholl, Jillian; Andrieux, Joris; Stray-Pedersen, Asbjørg; Chambon, Pascal; et al (2017). YY1 Haploinsufficiency Causes an Intellectual Disability Syndrome Featuring Transcriptional and Chromatin Dysfunction. American Journal of Human Genetics, 100(6):907-925.

Shaw, Natalie D; Brand, Harrison; Kupchinsky, Zachary A; Bengani, Hemant; Plummer, Lacey; Jones, Takako I; Erdin, Serkan; Williamson, Kathleen A; Rainger, Joe; Stortchevoi, Alexei; Samocha, Kaitlin; Currall, Benjamin B; Dunican, Donncha S; Collins, Ryan L; Willer, Jason R; Lek, Angela; Lek, Monkol; Nassan, Malik; Pereira, Shahrin; Kammin, Tammy; Lucente, Diane; Silva, Alexandra; Seabra, Catarina M; Chiang, Colby; An, Yu; Ansari, Morad; Rainger, Jacqueline K; Joss, Shelagh; Smith, Jill Clayton; Lippincott, Margaret F; et al (2017). Corrigendum: SMCHD1 mutations associated with a rare muscular dystrophy can also cause isolated arhinia and Bosma arhinia microphthalmia syndrome. Nature Genetics, 49(6):969.

Dempsey, Jennifer C; Phelps, Ian G; Bachmann-Gagescu, Ruxandra; Glass, Ian A; Tully, Hannah M; Doherty, Dan (2017). Mortality in Joubert syndrome. American Journal of Medical Genetics. Part A, 173(5):1237-1242.

Zweier, Markus; Peippo, Maarit M; Pöyhönen, Minna; Kääriäinen, Helena; Begemann, Anaïs; Joset, Pascal; Oneda, Beatrice; Rauch, Anita (2017). The HHID syndrome of hypertrichosis, hyperkeratosis, abnormal corpus callosum, intellectual disability, and minor anomalies is caused by mutations in ARID1B. American Journal of Medical Genetics. Part A, 173(5):1440-1443.

Plecko, Barbara; Zweier, Markus; Begemann, Anaïs; Mathis, Deborah; Schmitt, Bernhard; Striano, Pasquale; Baethmann, Martina; Vari, Maria Stella; Beccaria, Francesca; Zara, Federico; Crowther, Lisa M; Joset, Pascal; Sticht, Heinrich; Papuc, Sorina Mihaela; Rauch, Anita (2017). Confirmation of mutations in PROSC as a novel cause of vitamin B6 -dependent epilepsy. Journal of Medical Genetics, 54(12):809-814.

Acuna-Hidalgo, Rocio; Deriziotis, Pelagia; Steehouwer, Marloes; Gilissen, Christian; Graham, Sarah A; van Dam, Sipko; Hoover-Fong, Julie; Telegrafi, Aida B; Destree, Anne; Smigiel, Robert; Lambie, Lindsday A; Kayserili, Hülya; Altunoglu, Umut; Lapi, Elisabetta; Uzielli, Maria Luisa; Aracena, Mariana; Nur, Banu G; Mihci, Ercan; Moreira, Lilia M A; Borges Ferreira, Viviane; Horovitz, Dafne D G; da Rocha, Katia M; Jezela-Stanek, Aleksandra; Brooks, Alice S; Reutter, Heiko; Cohen, Julie S; Fatemi, Ali; Smitka, Martin; Grebe, Theresa A; Di Donato, Nataliya; et al (2017). Overlapping SETBP1 gain-of-function mutations in Schinzel-Giedion syndrome and hematologic malignancies. PLoS Genetics, 13(3):e1006683.

Azzarello-Burri, Silvia; Rauch, Anita (2017). Medizinische Genetik im ärztlichen Alltag. Primary and Hospital Care, 17(4):78-80.

Shaw, Natalie D; Brand, Harrison; Kupchinsky, Zachary A; Bengani, Hemant; Plummer, Lacey; Jones, Takako I; Erdin, Serkan; Williamson, Kathleen A; Rainger, Joe; Stortchevoi, Alexei; Samocha, Kaitlin; Currall, Benjamin B; Dunican, Donncha S; Collins, Ryan L; Willer, Jason R; Lek, Angela; Lek, Monkol; Nassan, Malik; Pereira, Shahrin; Kammin, Tammy; Lucente, Diane; Silva, Alexandra; Seabra, Catarina M; Chiang, Colby; An, Yu; Ansari, Morad; Rainger, Jacqueline K; Joss, Shelagh; Smith, Jill Clayton; Lippincott, Margaret F; et al (2017). SMCHD1 mutations associated with a rare muscular dystrophy can also cause isolated arhinia and Bosma arhinia microphthalmia syndrome. Nature Genetics, 49(2):238-248.

Reuter, Miriam S; Riess, Angelika; Moog, Ute; Briggs, Tracy A; Chandler, Kate E; Rauch, Anita; Stampfer, Miriam; Steindl, Katharina; Gläser, Dieter; Joset, Pascal; DDD Study; Krumbiegel, Mandy; Rabe, Harald; Schulte-Mattler, Uta; Bauer, Peter; Beck-Wödl, Stefanie; Kohlhase, Jürgen; Reis, André; Zweier, Christiane (2017). FOXP2 variants in 14 individuals with developmental speech and language disorders broaden the mutational and clinical spectrum. Journal of Medical Genetics, 54(1):64-72.

Guo, Dong-chuan; Duan, Xue-Yan; Regalado, Ellen S; Mellor-Crummey, Lauren; Kwartler, Callie S; Kim, Dong; Lieberman, Kenneth; de Vries, Bert B.A; Pfundt, Rolph; Schinzel, Albert; Kotzot, Dieter; Shen, Xuetong; Yang, Min-Lee; Bamshad, Michael J; Nickerson, Deborah A; Gornik, Heather L; Ganesh, Santhi K; Braverman, Alan C; Grange, Dorothy K; Milewicz, Dianna M (2017). Loss-of-function mutations in YY1AP1 lead to grange syndrome and a fibromuscular dysplasia-like vascular disease. American Journal of Human Genetics, 100(1):21-30.

Abela, Lucia; Spiegel, Ronen; Crowther, Lisa M; Klein, Andrea; Steindl, Katharina; Papuc, Sorina Mihaela; Joset, Pascal; Zehavi, Yoav; Rauch, Anita; Plecko, Barbara; Simmons, Thomas Luke (2017). Plasma metabolomics reveals a diagnostic metabolic fingerprint for mitochondrial aconitase (ACO2) deficiency. PLoS ONE, 12(5):e0176363.

2016

Di Donato, Nataliya; Jean, Ying Y; Maga, A Murat; Krewson, Briana D; Shupp, Alison B; Avrutsky, Maria I; Roy, Achira; Collins, Sarah; Olds, Carissa; Willert, Rebecca A; Czaja, Agnieszka M; Johnson, Rachel; Stover, Jessi A; Gottlieb, Steven; Bartholdi, Deborah; Rauch, Anita; Goldstein, Amy; Boyd-Kyle, Victoria; Aldinger, Kimberly A; Mirzaa, Ghayda M; Nissen, Anke; Brigatti, Karlla W; Puffenberger, Erik G; Millen, Kathleen J; Strauss, Kevin A; Dobyns, William B; Troy, Carol M; Jinks, Robert N (2016). Mutations in CRADD result in reduced caspase-2-mediated neuronal apoptosis and cause megalencephaly with a rare lissencephaly variant. American Journal of Human Genetics, 99(5):1117-1129.

Reis, L M; Tyler, R C; Weh, E; Hendee, K E; Schilter, K F; Phillips, J A; Sequeira, S; Schinzel, A; Semina, E V (2016). Whole exome sequencing identifies multiple diagnoses in congenital glaucoma with systemic anomalies. Clinical Genetics, 90(4):378-382.

Joshi, Ricky S; Garg, Paras; Zaitlen, Noah; Lappalainen, Tuuli; Watson, Corey T; Azam, Nidha; Ho, Daniel; Li, Xin; Antonarakis, Stylianos E; Brunner, Han G; Buiting, Karin; Cheung, Sau Wai; Coffee, Bradford; Eggermann, Thomas; Francis, David; Geraedts, Joep P; Gimelli, Giorgio; Jacobson, Samuel G; Le Caignec, Cedric; de Leeuw, Nicole; Liehr, Thomas; Mackay, Deborah J; Montgomery, Stephen B; Pagnamenta, Alistair T; Papenhausen, Peter; Robinson, David O; Ruivenkamp, Claudia; Schwartz, Charles; Steiner, Bernhard; Stevenson, David A; et al (2016). DNA Methylation Profiling of Uniparental Disomy Subjects Provides a Map of Parental Epigenetic Bias in the Human Genome. American Journal of Human Genetics, 99(3):555-566.

Gerth-Kahlert, Christina; Tiwari, Amit; Bahr, Angela; Bähr, Luzy; Magyar, István; Berger, Wolfgang (2016). Complex optic nerve and macular hypoplasia in two siblings with compound heterozygous mutations in the ATOH7 gene. Journal of AAPOS, 20(4):e32.

Mignot, Cyril; von Stülpnagel, Celina; Nava, Caroline; Ville, Dorothée; Sanlaville, Damien; Lesca, Gaetan; Rastetter, Agnès; Gachet, Benoit; Marie, Yannick; Korenke, G Christoph; Borggraefe, Ingo; Hoffmann-Zacharska, Dorota; Szczepanik, Elżbieta; Rudzka-Dybała, Mariola; Yiş, Uluç; Çağlayan, Hande; Isapof, Arnaud; Marey, Isabelle; Panagiotakaki, Eleni; Korff, Christian; Rossier, Eva; Riess, Angelika; Beck-Woedl, Stefanie; Rauch, Anita; Zweier, Christiane; Hoyer, Juliane; Reis, André; Mironov, Mikhail; Bobylova, Maria; Mukhin, Konstantin; et al (2016). Genetic and neurodevelopmental spectrum of SYNGAP1-associated intellectual disability and epilepsy. Journal of Medical Genetics, 53(8):511-522.

Brodbeck, Michael; Yousif, Q; Diener, P A; Zweier, M; Gruenert, J (2016). The Buschke-Ollendorff syndrome: a case report of simultaneous osteo-cutaneous malformations in the hand. BMC Research Notes, 9:294.

Oneda, Beatrice; Steindl, Katharina; Masood, Rahim; Reshetnikova, Irina; Krejci, Pavel; Baldinger, Rosa; Reissmann, Regina; Taralczak, Malgorzata; Guetg, Adriano; Wisser, Josef; Fauchère, Jean-Claude; Rauch, Anita (2016). Noninvasive prenatal testing: more caution in counseling is needed in high risk pregnancies with ultrasound abnormalities. European Journal of Obstetrics, Gynecology, and Reproductive Biology, 200:72-75.

Suter, Aude-Annick; Itin, Peter; Heinimann, Karl; Ahmed, Munaza; Ashraf, Tazeen; Fryssira, Helen; Kini, Usha; Lapunzina, Pablo; Miny, Peter; Sommerlund, Mette; Suri, Mohnish; Vaeth, Signe; Vasudevan, Pradeep; Gallati, Sabina (2016). Rothmund-Thomson Syndrome: novel pathogenic mutations and frequencies of variants in the RECQL4 and USB1 (C16orf57) gene. Molecular Genetics & Genomic Medicine, 4(3):359-366.

Asadollahi, Reza (2016). Inspirations in medical genetics. Journal of medical biography, 24(1):138-140.

Azzarello-Burri, Silvia Miranda; Niedrist, Dunja; Rauch, Anita (2016). Genetische Diagnostik für die Betreuung von Patientinnen mit Brustkrebs: BRCA and beyond. Swiss Medical Forum, 16(01):4-6.

D'Angelo, Debra; Lebon, Sébastien; Chen, Qixuan; Martin-Brevet, Sandra; Snyder, LeeAnne Green; Hippolyte, Loyse; Hanson, Ellen; Maillard, Anne M; Faucett, W Andrew; Macé, Aurélien; Pain, Aurélie; Bernier, Raphael; Chawner, Samuel J R A; David, Albert; Andrieux, Joris; Aylward, Elizabeth; Baujat, Genevieve; Caldeira, Ines; Conus, Philippe; Ferrari, Carrina; Forzano, Francesca; Gérard, Marion; Goin-Kochel, Robin P; Grant, Ellen; Hunter, Jill V; Isidor, Bertrand; Jacquette, Aurélia; Jønch, Aia E; Keren, Boris; Lacombe, Didier; et al (2016). Defining the Effect of the 16p11.2 Duplication on Cognition, Behavior, and Medical Comorbidities. JAMA Psychiatry, 73(1):20-30.

Fauth, Christine; Steindl, Katharina; Toutain, Annick; Farrell, Sandra; Witsch-Baumgartner, Martina; Karall, Daniela; Joset, Pascal; Böhm, Sebastian; Baumer, Alessandra; Maier, Oliver; Zschocke, Johannes; Weksberg, Rosanna; Marshall, Christian R; Rauch, Anita (2016). A recurrent germline mutation in the PIGA gene causes Simpson-Golabi-Behmel syndrome type 2. American Journal of Medical Genetics. Part A, 170(2):392-402.

Chong, Jessica X; Yu, Joon-Ho; Lorentzen, Peter; Park, Karen M; Jamal, Seema M; Tabor, Holly K; Rauch, Anita; Saenz, Margarita Sifuentes; Boltshauser, Eugen; Patterson, Karynne E; Nickerson, Deborah A; Bamshad, Michael J (2016). Gene discovery for Mendelian conditions via social networking: de novo variants in KDM1A cause developmental delay and distinctive facial features. Genetics in Medicine, 18(8):788-795.

Niedrist, Dunja (2016). Hochdurchsatz-Sequenzierung. Swiss Medical Forum, 16(5152):1103-1104.

Abela, Lucia; Simmons, Luke; Steindl, Katharina; Schmitt, Bernhard; Mastrangelo, Massimo; Joset, Pascal; Papuc, Mihaela; Sticht, Heinrich; Baumer, Alessandra; Crowther, Lisa M; Mathis, Déborah; Rauch, Anita; Plecko, Barbara (2016). N(8)-acetylspermidine as a potential plasma biomarker for Snyder-Robinson syndrome identified by clinical metabolomics. Journal of Inherited Metabolic Disease, 39(1):131-137.

Mathis, Déborah; Abela, Lucia; Albersen, Monique; Bürer, Céline; Crowther, Lisa; Beese, Karin; Hartmann, Hans; Bok, Levinus A; Struys, Eduard; Papuc, Sorina M; Rauch, Anita; Hersberger, Martin; Verhoeven-Duif, Nanda M; Plecko, Barbara (2016). The value of plasma vitamin B6 profiles in early onset epileptic encephalopathies. Journal of Inherited Metabolic Disease, 39(5):733-741.

2015

Zollino, Marcella; Marangi, Giuseppe; Ponzi, Emanuela; et al (2015). Intragenic KANSL1 mutations and chromosome 17q21.31 deletions: broadening the clinical spectrum and genotype-phenotype correlations in a large cohort of patients. Journal of Medical Genetics, 52(12):804-814.

Dona, Margo; Bachmann-Gagescu, Ruxandra; Texier, Yves; Toedt, Grischa; Hetterschijt, Lisette; Tonnaer, Edith L; Peters, Theo A; van Beersum, Sylvia E C; Bergboer, Judith G M; Horn, Nicola; de Vrieze, Erik; Slijkerman, Ralph W N; van Reeuwijk, Jeroen; Flik, Gert; Keunen, Jan E; Ueffing, Marius; Gibson, Toby J; Roepman, Ronald; Boldt, Karsten; Kremer, Hannie; van Wijk, Erwin (2015). NINL and DZANK1 co-function in vesicle transport and are essential for photoreceptor development in Zebrafish. PLoS Genetics, 11(10):e1005574.

Giarrana, Miriam L; Joset, Pascal; Sticht, Heinrich; Robb, Stephanie; Steindl, Katharina; Rauch, Anita; Klein, Andrea (2015). A severe congenital myasthenic syndrome with "dropped head" caused by novel MUSK mutations. Muscle & Nerve, 52(4):668-673.

Bachmann-Gagescu, Ruxandra; Dona, Margo; Hetterschijt, Lisette; Tonnaer, Edith; Peters, Theo; de Vrieze, Erik; Mans, Dorus A; van Beersum, Sylvia E C; Phelps, Ian G; Arts, Heleen H; Keunen, Jan E; Ueffing, Marius; Roepman, Ronald; Boldt, Karsten; Doherty, Dan; Moens, Cecilia B; Neuhauss, Stephan C F; Kremer, Hannie; van Wijk, Erwin (2015). The ciliopathy protein CC2D2A Associates with NINL and functions in RAB8-MICAL3-regulated vesicle trafficking. PLoS Genetics, 11(10):e1005575.

May, Melanie; Hwang, Kyu-Seok; Miles, Judith; et al (2015). ZC4H2, an XLID gene, is required for the generation of a specific subset of CNS interneurons. Human Molecular Genetics, 24(17):4848-4861.

Steinkellner, Hannes; Etzler, Julia; Gogoll, Laura; Neesen, Jürgen; Stifter, Eva; Brandau, Oliver; Laccone, Franco (2015). Identification and molecular characterisation of a homozygous missense mutation in the ADAMTS10 gene in a patient with Weill-Marchesani syndrome. European Journal of Human Genetics, 23(9):1186-1191.

Bachmann-Gagescu, Ruxandra; Phelps, Ian G; Dempsey, Jennifer C; Sharma, Vivek A; Ishak, Gisele E; Boyle, Evan A; Wilson, Meredith; Marques Lourenço, Charles; Arslan, Mutluay; Shendure, Jay; Doherty, Dan (2015). KIAA0586 is mutated in Joubert syndrome. Human Mutation, 36(9):831-835.

Yigit, Gökhan; Brown, Karen E; Kayserili, Hülya; Pohl, Esther; Caliebe, Almuth; Zahnleiter, Diana; Rosser, Elisabeth; Bögershausen, Nina; Uyguner, Zehra Oya; Altunoglu, Umut; Nürnberg, Gudrun; Nürnberg, Peter; Rauch, Anita; Li, Yun; Thiel, Christian Thomas; Wollnik, Bernd (2015). Mutations in CDK5RAP2 cause Seckel syndrome. Molecular Genetics & Genomic Medicine, 3(5):467-480.

Bachmann-Gagescu, R; Dempsey, J C; Phelps, I G; O'Roak, B J; Knutzen, D M; Rue, T C; Ishak, G E; Isabella, C R; Gorden, N; Adkins, J; Boyle, E A; de Lacy, N; O'Day, D; Alswaid, A; Radha Ramadevi, A; Lingappa, L; Lourenço, C; Martorell, L; Garcia-Cazorla, À; Ozyürek, H; Haliloğlu, G; Tuysuz, B; Topçu, M; Chance, P; Parisi, M A; Glass, I A; Shendure, J; Doherty, D (2015). Joubert syndrome: a model for untangling recessive disorders with extreme genetic heterogeneity. Journal of Medical Genetics, 52(8):514-522.

Martinelli, Simone; Stellacci, Emilia; Pannone, Luca; D'Agostino, Daniela; Consoli, Federica; Lissewski, Christina; Silvano, Marianna; Cencelli, Giulia; Lepri, Francesca; Maitz, Silvia; Pauli, Silke; Rauch, Anita; Zampino, Giuseppe; Selicorni, Angelo; Melançon, Serge; Digilio, Maria C; Gelb, Bruce D; De Luca, Alessandro; Dallapiccola, Bruno; Zenker, Martin; Tartaglia, Marco (2015). Molecular diversity and associated phenotypic spectrum of germline CBL mutations. Human Mutation, 36(8):787-796.

Steiner, Bernhard; Masood, Rahim; Rufibach, Kaspar; Niedrist, Dunja; Kundert, Oliver; Riegel, Mariluce; Schinzel, Albert (2015). An unexpected finding: younger fathers have a higher risk for offspring with chromosomal aneuploidies. European Journal of Human Genetics, 23(4):466-472.

Rosin, Nadine; Elcioglu, Nursel H; Beleggia, Filippo; Isgüven, Pinar; Altmüller, Janine; Thiele, Holger; Steindl, Katharina; Joset, Pascal; Rauch, Anita; Nürnberg, Peter; Wollnik, Bernd; Yigit, Gökhan (2015). Mutations in XRCC4 cause primary microcephaly, short stature and increased genomic instability. Human Molecular Genetics, 24(13):3708-3717.

Gschwind, Markus; Foletti, Giovanni; Baumer, Alessandra; Bottani, Armand; Novy, Jan (2015). Recurrent nonconvulsive status epilepticus in a patient with coffin-lowry syndrome. Molecular Syndromology, 6(2):91-95.

Maass, Philipp G; Aydin, Atakan; Luft, Friedrich C; et al (2015). PDE3A mutations cause autosomal dominant hypertension with brachydactyly. Nature Genetics, 47(6):647-653.

Migliavacca, Eugenia; Golzio, Christelle; Männik, Katrin; Blumenthal, Ian; Oh, Edwin C; Harewood, Louise; Kosmicki, Jack A; Loviglio, Maria Nicla; Giannuzzi, Giuliana; Hippolyte, Loyse; Maillard, Anne M; Alfaiz, Ali Abdullah; van Haelst, Mieke M; Andrieux, Joris; Gusella, James F; Daly, Mark J; Beckmann, Jacques S; Jacquemont, Sébastien; Talkowski, Michael E; Katsanis, Nicholas; Reymond, Alexandre (2015). A potential contributory role for ciliary dysfunction in the 16p11.2 600 kb BP4-BP5 pathology. American Journal of Human Genetics, 96(5):784-796.

Schinzel, Albert (2015). Genetics and Genomics in Medicine. European Journal of Human Genetics, 23(5):719.

Vulto-van Silfhout, Anneke T; Nakagawa, Tadashi; Bahi-Buisson, Nadia; et al (2015). Variants in CUL4B are associated with cerebral malformations. Human Mutation, 36(1):106-117.

Popp, Bernt; Støve, Svein I; Endele, Sabine; Myklebust, Line M; Hoyer, Juliane; Sticht, Heinrich; Azzarello-Burri, Silvia; Rauch, Anita; Arnesen, Thomas; Reis, André (2015). De novo missense mutations in the NAA10 gene cause severe non-syndromic developmental delay in males and females. European Journal of Human Genetics, 23(5):602-609.

Imthurn, Bruno; Berger, Wolfgang; Macas, Ervin; Magyar, István; Oneda, Beatrice; Rauch, Anita; Xie, Min (2015). Polar body diagnosis (PBD): an alternative and supplement to preimplantation diagnosis for single embryo transfer. In: Sills, E Scott. Screening the Single Euploid Embryo : Molecular Genetics in Reproductive Medicine. International Publishing Switzerland: Springer, 103-122.

2014

Rauch, Philipp J; Müllhaupt, Beat; Biedermann, Luc; Manz, Markus G; Ruschitzka, Frank; Flammer, Andreas J; Segerer, Stephan; Mohebbi, Nilufar; Jung, Hans H; Moch, Holger; Ikenberg, Kristian; Aguzzi, Adriano; Nuvolone, Mario; Distler, Oliver; Rauch, Anita; Fehr, Thomas; Gerber, Bernhard (2014). Systemische Amyloidosen. Swiss Medical Forum, 14(50):943-948.

Bachmann-Gagescu, Ruxandra (2014). Complexité génétique des ciliopathies et identification de nouveaux gènes. Médecine/Sciences, 30(11):1011-1023.

Bülow, Luzie; Lissewski, Christina; Bressel, Rainer; Rauch, Anita; Stark, Zornitza; Zenker, Martin; Bartsch, Oliver (2014). Hydrops, fetal pleural effusions and chylothorax in three patients with CBL mutations. American Journal of Medical Genetics. Part A, 167(2):394-399.

Asadollahi, Reza; Oneda, Beatrice; Joset, Pascal; Azzarello-Burri, Silvia; Bartholdi, Deborah; Steindl, Katharina; Vincent, Marie; Cobilanschi, Joana; Sticht, Heinrich; Baldinger, Rosa; Reissmann, Regina; Sudholt, Irene; Thiel, Christian T; Ekici, Arif B; Reis, André; Bijlsma, Emilia K; Andrieux, Joris; Dieux, Anne; FitzPatrick, David; Ritter, Susanne; Baumer, Alessandra; Latal, Beatrice; Plecko, Barbara; Jenni, Oskar G; Rauch, Anita (2014). The clinical significance of small copy number variants in neurodevelopmental disorders. Journal of Medical Genetics, 51(10):677-688.

Dieks, Jana-Katharina; Baumer, Alessandra; Wilichowski, Ekkehard; Rauch, Anita; Sigler, Matthias (2014). Microcephalic osteodysplastic primordial dwarfism type II (MOPD II) with multiple vascular complications misdiagnosed as Dubowitz syndrome. European Journal of Pediatrics, 173(9):1253-1256.

Sousa, Sérgio B; Hennekam, Raoul C (2014). Phenotype and genotype in Nicolaides-Baraitser syndrome. American Journal of Medical Genetics. Part C: Seminars in Medical Genetics, 166(3):302-314.

Hackenberg, Annette; Baumer, Alessandra; Sticht, Heinrich; Schmitt, Bernhard; Kroell-Seger, Judith; Wille, David; Joset, Pascal; Papuc, Sorina; Rauch, Anita; Plecko, Barbara (2014). Infantile epileptic encephalopathy, transient choreoathetotic movements, and hypersomnia due to a De Novo missense mutation in the SCN2A gene. Neuropediatrics, 45(4):261-264.

Oneda, Beatrice; Baldinger, Rosa; Reissmann, Regina; Reshetnikova, Irina; Krejci, Pavel; Masood, Rahim; Ochsenbein-Kölble, Nicole; Bartholdi, Deborah; Steindl, Katharina; Morotti, Denise; Faranda, Marzia; Baumer, Alessandra; Asadollahi, Reza; Joset, Pascal; Niedrist, Dunja; Breymann, Christian; Hebisch, Gundula; Hüsler, Margaret; Mueller, René; Prentl, Elke; Wisser, Josef; Zimmermann, Roland; Rauch, Anita (2014). High-resolution chromosomal microarrays in prenatal diagnosis significantly increase diagnostic power. Prenatal Diagnosis, 34(6):525-533.

Zollino, Marcella; Orteschi, Daniela; Ruiter, Mariken; Pfundt, Rolph; Steindl, Katharina; Cafiero, Concetta; Ricciardi, Stefania; Contaldo, Ilaria; Chieffo, Daniela; Ranalli, Domiziana; Acquafondata, Celeste; Murdolo, Marina; Marangi, Giuseppe; Asaro, Alessia; Battaglia, Domenica (2014). Unusual 4p16.3 deletions suggest an additional chromosome region for the Wolf-Hirschhorn syndrome-associated seizures disorder. Epilepsia, 55(6):849-857.

Vulto-van Silfhout, Anneke T; Rajamanickam, Shivakumar; Jensik, Philip J; Vergult, Sarah; de Rocker, Nina; Newhall, Kathryn J; Raghavan, Ramya; Reardon, Sara N; Jarrett, Kelsey; McIntyre, Tara; Bulinski, Joseph; Ownby, Stacy L; Huggenvik, Jodi I; McKnight, G Stanley; Rose, Gregory M; Cai, Xiang; Willaert, Andy; Zweier, Christiane; Endele, Sabine; de Ligt, Joep; van Bon, Bregje W M; Lugtenberg, Dorien; de Vries, Petra F; Veltman, Joris A; van Bokhoven, Hans; Brunner, Han G; Rauch, Anita; de Brouwer, Arjan P M; Carvill, Gemma L; Hoischen, Alexander; Mefford, Heather C; Eichler, Evan E; Vissers, Lisenka E L M; Menten, Björn; Collard, Michael W; de Vries, Bert B A (2014). Mutations affecting the SAND domain of DEAF1 cause intellectual disability with severe speech impairment and behavioral problems. American Journal of Human Genetics, 94(5):649-661.

Bartholdi, Deborah; Stray-Pedersen, Asbjørg; Azzarello-Burri, Silvia; Kibaek, Maria; Kirchhoff, Maria; Oneda, Beatrice; Rødningen, Olaug; Schmitt-Mechelke, Thomas; Rauch, Anita; Kjaergaard, Susanne (2014). A newly recognized 13q12.3 microdeletion syndrome characterized by intellectual disability, microcephaly, and eczema/atopic dermatitis encompassing the HMGB1 and KATNAL1 genes. American Journal of Medical Genetics. Part A, 164A(5):1277-1283.

Hart, Lesley; Rauch, Anita; Carr, Antony M; Vermeesch, Joris R; O'Driscoll, Mark (2014). LETM1 haploinsufficiency causes mitochondrial defects in cells from humans with Wolf-Hirschhorn syndrome: implications for dissecting the underlying pathomechanisms in this condition. Disease Models & Mechanisms, 7(5):535-545.

Spiegler, Stefanie; Najm, Juliane; Liu, Jian; Gkalympoudis, Stephanie; Schröder, Winnie; Borck, Guntram; Brockmann, Knut; Elbracht, Miriam; Fauth, Christine; Ferbert, Andreas; Freudenberg, Leonie; Grasshoff, Ute; Hellenbroich, Yorck; Henn, Wolfram; Hoffjan, Sabine; Hüning, Irina; Korenke, G Christoph; Kroisel, Peter M; Kunstmann, Erdmute; Mair, Martina; Munk-Schulenburg, Susanne; Nikoubashman, Omid; Pauli, Silke; Rudnik-Schöneborn, Sabine; Sudholt, Irene; Sure, Ulrich; Tinschert, Sigrid; Wiednig, Michaela; Zoll, Barbara; Ginsberg, Mark H; Felbor, Ute (2014). High mutation detection rates in cerebral cavernous malformation upon stringent inclusion criteria: one-third of probands are minors. Molecular Genetics & Genomic Medicine, 2(2):176-185.

Rauch, Anita (2014). Exome sequencing in unspecific intellectual disability and rare disorders. Molecular Cytogenetics, 7(Suppl 1 Pr):I26.

Niedrist, Dunja (2014). Genetik: Schlagzeilen in der Genetik 2013. Swiss Medical Forum, 14(1-2):13-14.

Tuz, Karina; Bachmann-Gagescu, Ruxandra; O'Day, Diana R; Hua, Kiet; Isabella, Christine R; Phelps, Ian G; Stolarski, Allan E; O'Roak, Brian J; Dempsey, Jennifer C; Lourenco, Charles; Alswaid, Abdulrahman; Bönnemann, Carsten G; Medne, Livija; Nampoothiri, Sheela; Stark, Zornitza; Leventer, Richard J; Topçu, Meral; Cansu, Ali; Jagadeesh, Sujatha; Done, Stephen; Ishak, Gisele E; Glass, Ian A; Shendure, Jay; Neuhauss, Stephan C F; Haldeman-Englert, Chad R; Doherty, Dan; Ferland, Russell J (2014). Mutations in CSPP1 cause primary cilia abnormalities and Joubert syndrome with or without Jeune asphyxiating thoracic dystrophy. American Journal of Human Genetics, 94(1):62-72.

Douzgou, S; Clayton-Smith, J; Gardner, S; Day, R; Griffiths, P; Strong, K; Amiel, J; Baraitser, M; Brueton, L; Brunner, H; Chrzanowska, K; Dallapiccola, B; Del Campo Casanelles, M; Devriendt, K; Donnai, D; Fitzpatrick, D; Gillessen-Kaesbach, G; Houge, G; Kerr, B; Krajewska-Walasek, M; Lacombe, D; Meinecke, P; Metcalfe, K; Mortier, G; Odent, S; Philip, N; Prescott, T; Raas-Rothschild, A; Rauch, A; Rittinger, O; Salonen, R; Schrander-Stumpel, C; Suri, M; Temple, K; Tolmie, J; Van Der Burgt, I; Verloes, A; Wieczorek, D; Zenker, M (2014). Dysmorphology at a distance: results of a web-based diagnostic service. European Journal of Human Genetics, 22(3):327-332.

Riegel, Mariluce; Moreira, Lilia M; Espirito Santo, Layla D; Toralles, Maria B P; Schinzel, Albert (2014). Interstitial 14q24.3 to q31.3 deletion in a 6-year-old boy with a non-specific dysmorphic phenotype. Molecular Cytogenetics, 7:77.

2013

Pajarola, Sandra; Bachmann, Ruxandra; Niedrist, Dunja; Rauch, Anita (2013). Grundlagen der medizinischen Genetik. Praxis, 102(24):1457-1465.

Steindl, Katharina (2013). Marfan-Syndrom und andere genetisch bedingte Aortenerkrankungen. Praxis, 102(24):1483-1488.

Otte, Christine; Rauch, Anita (2013). Mentale Retardierung – eine häufige Fragestellung in der medizinischen Genetik. Praxis, 102(24):1467-1473.

Hofmann, Kristin; Zweier, Markus; Sticht, Heinrich; Zweier, Christiane; Wittmann, Wolfgang; Hoyer, Juliane; Uebe, Steffen; van Haeringen, Arie; Thiel, Christian T; Ekici, Arif B; Reis, André; Rauch, Anita (2013). Biallelic SEMA3A defects cause a novel type of syndromic short stature. American Journal of Medical Genetics. Part A, 161A(11):2880-2889.

Wieczorek, Dagmar; Bögershausen, Nina; Beleggia, Filippo; Steiner-Haldenstätt, Sabine; Pohl, Esther; Li, Yun; Milz, Esther; Martin, Marcel; Thiele, Holger; Altmüller, Janine; Alanay, Yasemin; Kayserili, Hülya; Klein-Hitpass, Ludger; Böhringer, Stefan; Wollstein, Andreas; Albrecht, Beate; Boduroglu, Koray; Caliebe, Almuth; Chrzanowska, Krystyna; Cogulu, Ozgur; Cristofoli, Francesca; Czeschik, Johanna Christina; Devriendt, Koenraad; Dotti, Maria Teresa; Elcioglu, Nursel; Gener, Blanca; Goecke, Timm O; Krajewska-Walasek, Malgorzata; Guillén-Navarro, Encarnación; Hayek, Joussef; Houge, Gunnar; Kilic, Esra; Simsek-Kiper, Pelin Özlem; López-González, Vanesa; Kuechler, Alma; Lyonnet, Stanislas; Mari, Francesca; Marozza, Annabella; Mathieu Dramard, Michèle; Mikat, Barbara; Morin, Gilles; Morice-Picard, Fanny; Ozkinay, Ferda; Rauch, Anita; Renieri, Alessandra; Tinschert, Sigrid; Utine, G Eda; Vilain, Catheline; Vivarelli, Rossella; Zweier, Christiane; Nürnberg, Peter; Rahmann, Sven; Vermeesch, Joris; Lüdecke, Hermann-Josef; Zeschnigk, Michael; Wollnik, Bernd (2013). A comprehensive molecular study on Coffin-Siris and Nicolaides-Baraitser syndromes identifies a broad molecular and clinical spectrum converging on altered chromatin remodeling. Human Molecular Genetics, 22(25):5121-5135.

Zweier, Christiane; Kraus, Cornelia; Brueton, Louise; Cole, Trevor; Degenhardt, Franziska; Engels, Hartmut; Gillessen-Kaesbach, Gabriele; Graul-Neumann, Luitgard; Horn, Denise; Hoyer, Juliane; Just, Walter; Rauch, Anita; Reis, André; Wollnik, Bernd; Zeschnigk, Michael; Lüdecke, Hermann-Josef; Wieczorek, Dagmar (2013). A new face of Borjeson-Forssman-Lehmann syndrome? De novo mutations in PHF6 in seven females with a distinct phenotype. Journal of Medical Genetics, 50(12):838-847.

Vulto-van Silfhout, Anneke T; van Ravenswaaij, Conny M A; Hehir-Kwa, Jayne Y; Verwiel, Eugène T P; Dirks, Rita; van Vooren, Steven; Schinzel, Albert; de Vries, Bert B A; de Leeuw, Nicole (2013). An update on ECARUCA, the European Cytogeneticists Association Register of Unbalanced Chromosome Aberrations. European Journal of Medical Genetics, 56(9):471-474.

Mamasoula, Chrysovalanto; Prentice, R Reid; Pierscionek, Tomasz; Pangilinan, Faith; Mills, James L; Druschel, Charlotte; Pass, Kenneth; Russell, Mark W; Hall, Darroch; Töpf, Ana; Brown, Danielle L; Zelenika, Diana; Bentham, Jamie; Cosgrove, Catherine; Bhattacharya, Shoumo; Riveron, Javier Granados; Setchfield, Kerry; Brook, J David; Bu'Lock, Frances A; Thornborough, Chris; Rahman, Thahira J; Doza, Julian Palomino; Tan, Huay L; O'Sullivan, John; Stuart, A Graham; Blue, Gillian; Winlaw, David; Postma, Alex V; Mulder, Barbara J M; Zwinderman, Aelko H; van Engelen, Klaartje; Moorman, Antoon F M; Rauch, Anita; Gewillig, Marc; Breckpot, Jeroen; Devriendt, Koen; Lathrop, G Mark; Farrall, Martin; Goodship, Judith A; Cordell, Heather J; Brody, Lawrence C; Keavney, Bernard D (2013). Association between C677T polymorphism of methylene tetrahydrofolate reductase and congenital heart disease: meta-analysis of 7697 cases and 13,125 controls. Circulation. Cardiovascular Genetics, 6(4):347-353.

Asadollahi, Reza; Asadollahi, Hamid (2013). Avicenna's view on medical genetics. Genetics in Medicine, 15(5):410-411.

Dobrinas, Maria; Crettol, Séverine; Oneda, Beatrice; Lahyani, Rachel; Rotger, Margalida; Choong, Eva; Lubomirov, Rubin; Csajka, Chantal; Eap, Chin B (2013). Contribution of CYP2B6 alleles in explaining extreme (S)-methadone plasma levels: a CYP2B6 gene resequencing study. Pharmacogenetics and Genomics, 23(2):84-93.

Gregor, Anne; Oti, Martin; Kouwenhoven, Evelyn N; Hoyer, Juliane; Sticht, Heinrich; Ekici, Arif B; Kjaergaard, Susanne; Rauch, Anita; Stunnenberg, Hendrik G; Uebe, Steffen; Vasileiou, Georgia; Reis, André; Zhou, Huiqing; Zweier, Christiane (2013). De novo mutations in the genome organizer CTCF cause intellectual disability. American Journal of Human Genetics, 93(1):124-131.

Asadollahi, Reza; Oneda, Beatrice; Sheth, Frenny; Azzarello-Burri, Silvia; Baldinger, Rosa; Joset, Pascal; Latal, Beatrice; Knirsch, Walter; Desai, Soaham; Baumer, Alessandra; Houge, Gunnar; Andrieux, Joris; Rauch, Anita (2013). Dosage changes of MED13L further delineate its role in congenital heart defects and intellectual disability. European Journal of Human Genetics, 21(10):1100-1104.

Huber, Céline; Faqeih, Eissa Ali; Bartholdi, Deborah; Bole-Feysot, Christine; Borochowitz, Zvi; Cavalcanti, Denise P; Frigo, Amandine; Nitschke, Patrick; Roume, Joelle; Santos, Heloísa G; Shalev, Stavit A; Superti-Furga, Andrea; Delezoide, Anne-Lise; Le Merrer, Martine; Munnich, Arnold; Cormier-Daire, Valérie (2013). Exome sequencing identifies INPPL1 mutations as a cause of opsismodysplasia. American Journal of Human Genetics, 92(1):144-149.

Bartholdi, Deborah; Asadollahi, Reza; Oneda, Beatrice; Schmitt-Mechelke, Thomas; Tonella, Paolo; Baumer, Alessandra; Rauch, Anita (2013). Further delineation of genotype-phenotype correlation in homozygous 2p21 deletion syndromes: first description of patients without cystinuria. American Journal of Medical Genetics. Part A, 161(8):1853-1859.

Cordell, Heather J; Töpf, Ana; Mamasoula, Chrysovalanto; Postma, Alex V; Bentham, Jamie; Zelenika, Diana; Heath, Simon; Blue, Gillian; Cosgrove, Catherine; Granados Riveron, Javier; Darlay, Rebecca; Soemedi, Rachel; Wilson, Ian J; Ayers, Kristin L; Rahman, Thahira J; Hall, Darroch; Mulder, Barbara J M; Zwinderman, Aelko H; van Engelen, Klaartje; Brook, J David; Setchfield, Kerry; Bu'Lock, Frances A; Thornborough, Chris; O'Sullivan, John; Stuart, A Graham; Parsons, Jonathan; Bhattacharya, Shoumo; Winlaw, David; Mital, Seema; Gewillig, Marc; Breckpot, Jeroen; Devriendt, Koen; Moorman, Antoon F M; Rauch, Anita; Lathrop, G Mark; Keavney, Bernard D; Goodship, Judith A (2013). Genome-wide association study identifies loci on 12q24 and 13q32 associated with tetralogy of Fallot. Human Molecular Genetics, 22(7):1473-1481.

Schinzel, Albert; Riegel, Mariluce; Baumer, Alessandra; Superti-Furga, Andrea; Moreira, Lilia M A; Santo, Layla D E; Schiper, Patricia P; Carvalho, José Henrique Dantas; Giedion, Andres (2013). Long-term follow-up of four patients with Langer-Giedion syndrome: clinical course and complications. American Journal of Medical Genetics. Part A, 161(9):2216-2225.

Travaglini, Lorena; Brancati, Francesco; Silhavy, Jennifer; Iannicelli, Miriam; Nickerson, Elizabeth; Elkhartoufi, Nadia; Scott, Eric; Spencer, Emily; Gabriel, Stacey; Thomas, Sophie; Ben-Zeev, Bruria; Bertini, Enrico; Boltshauser, Eugen; Chaouch, Malika; Cilio, Maria Roberta; de Jong, Mirjam M; Kayserili, Hulya; Ogur, Gonul; Poretti, Andrea; Signorini, Sabrina; Uziel, Graziella; Zaki, Maha S; Johnson, Colin; Attié-Bitach, Tania; Gleeson, Joseph G; Valente, Enza Maria (2013). Phenotypic spectrum and prevalence of INPP5E mutations in Joubert syndrome and related disorders. European Journal of Human Genetics, 21(10):1074-1078.

Goubau, Christophe; Devriendt, Koen; Van der Aa, Nathalie; Crepel, An; Wieczorek, Dagmar; Kleefstra, Tjitske; Willemsen, Marjolein H; Rauch, Anita; Tzschach, Andreas; de Ravel, Thomy; Leemans, Peter; Van Geet, Chris; Buyse, Gunnar; Freson, Kathleen (2013). Platelet defects in congenital variant of Rett syndrome patients with FOXG1 mutations or reduced expression due to a position effect at 14q12. European Journal of Human Genetics, 21(12):1349-1355.

Zahnleiter, Diana; Uebe, Steffen; Ekici, Arif B; Hoyer, Juliane; Wiesener, Antje; Wieczorek, Dagmar; Kunstmann, Erdmute; Reis, André; Doerr, Helmuth-Guenther; Rauch, Anita; Thiel, Christian T (2013). Rare copy number variants are a common cause of short stature. PLoS Genetics, 9(3):e1003365.

Steinbusch, C V M; van Roozendaal, K E P; Tserpelis, D; Smeets, E E J; Kranenburg-de Koning, T J; de Waal, K H; Zweier, C; Rauch, A; Hennekam, R C M; Blok, M J; Schrander-Stumpel, C T R M (2013). Somatic mosaicism in a mother of two children with Pitt-Hopkins syndrome. Clinical Genetics, 83(1):73-77.

Hadj-Rabia, Smail; Callewaert, Bert L; Bourrat, Emmanuelle; Kempers, Marlies; Plomp, Astrid S; Layet, Valerie; Bartholdi, Deborah; Renard, Marjolijn; De Backer, Julie; Malfait, Fransiska; Vanakker, Olivier M; Coucke, Paul J; De Paepe, Anne M; Bodemer, Christine (2013). Twenty patients including 7 probands with autosomal dominant cutis laxa confirm clinical and molecular homogeneity. Orphanet Journal of Rare Diseases, 8:36.

2012

Soemedi, Rachel; Wilson, Ian J; Bentham, Jamie; Darlay, Rebecca; Töpf, Ana; Zelenika, Diana; Cosgrove, Catherine; Setchfield, Kerry; Thornborough, Chris; Granados-Riveron, Javier; Blue, Gillian M; Breckpot, Jeroen; Hellens, Stephen; Zwolinkski, Simon; Glen, Elise; Mamasoula, Chrysovalanto; Rahman, Thahira J; Hall, Darroch; Rauch, Anita; Devriendt, Koenraad; Gewillig, Marc; O'Sullivan, John; Winlaw, David S; Bu'lock, Frances; Brook, J David; Bhattacharya, Shoumo; Lathrop, Mark; Santibanez-Koref, Mauro; Cordell, Heather J; Goodship, Judith A; et al (2012). Contribution of Global Rare Copy-Number Variants to the Risk of Sporadic Congenital Heart Disease. American Journal of Human Genetics, 91(3):489-501.

Zingg-Schenk, Andrea; Caduff, Jürg; Azzarello-Burri, Silvia; Bergmann, Carsten; Drenth, Joost P H; Neuhaus, Thomas J (2012). Boy with autosomal recessive polycystic kidney and autosomal dominant polycystic liver disease. Pediatric Nephrology, 27(7):1197-200.

Oneda, B; Rauch, A (2012). Molekulare Karyotypisierung in der Diagnostik neurokognitiver Entwicklungsstörungen. Medizinische Genetik, 24(2):94-98.

Thiel, C; Rauch, A (2012). Wachstumsstörungen als Leitsymptom. Medizinische Genetik, 24(2):123-137.

Rauch, Anita (2012). Next-Generation-Sequenzierung. Ein Quantensprung in der Aufklärung genetischer Erkrankungen. Swiss Medical Forum, 12(03):44-46.

Avbelj Stefanija, Magdalena; Jeanpierre, Marc; Sykiotis, Gerasimos P; Young, Jacques; Quinton, Richard; Abreu, Ana Paula; Plummer, Lacey; Au, Margaret G; Balasubramanian, Ravikumar; Dwyer, Andrew A; Florez, Jose C; Cheetham, Timothy; Pearce, Simon H; Purushothaman, Radhika; Schinzel, Albert; Pugeat, Michel; Jacobson-Dickman, Elka E; Ten, Svetlana; Latronico, Ana Claudia; Gusella, James F; Dode, Catherine; Crowley, William F; Pitteloud, Nelly (2012). An ancient founder mutation in PROKR2 impairs human reproduction. Human Molecular Genetics, 21(19):4314-4324.

Frühmesser, Anne; Haberlandt, Edda; Judmaier, Werner; Schinzel, Albert; Utermann, Barbara; Erdel, Martin; Fauth, Christine; Utermann, Gerd; Zschocke, Johannes; Kotzot, Dieter (2012). Effects of deletion and duplication in a patient with a 46,XX,der(7)t(7;17)(q36;p13)mat karyotype. American Journal of Medical Genetics. Part A, 158A(9):2239-2244.

Hoyer, Juliane; Ekici, Arif B; Endele, Sabine; Popp, Bernt; Zweier, Christiane; Wiesener, Antje; Wohlleber, Eva; Dufke, Andreas; Rossier, Eva; Petsch, Corinna; Zweier, Markus; Göhring, Ina; Zink, Alexander M; Rappold, Gudrun; Schröck, Evelin; Wieczorek, Dagmar; Riess, Olaf; Engels, Hartmut; Rauch, Anita; Reis, André (2012). Haploinsufficiency of ARID1B, a member of the SWI/SNF-a chromatin-remodeling complex, is a frequent cause of intellectual disability. American Journal of Human Genetics, 90(3):565-572.

Wolff, D; Endele, S; Azzarello-Burri, S; Hoyer, J; Zweier, M; Schanze, I; Schmitt, B; Rauch, A; Reis, A; Zweier, C (2012). In-frame deletion and missense mutations of the C-terminal helicase domain of SMARCA2 in three patients with Nicolaides-Baraitser syndrome. Molecular Syndromology, 2(6):237-244.

Poretti, Andrea; Mall, Volker; Smitka, Martin; Grunt, Sebastian; Risen, Sarah; Toelle, Sandra P; Benson, Jane E; Yoshida, Shoko; Jung, Nikolai H; Tinschert, Sigrid; Neuhann, Teresa M; Rauch, Anita; Steinlin, Maja; Meoded, Avner; Huisman, Thierry A G M; Boltshauser, Eugen (2012). Macrocerebellum: significance and pathogenic considerations. Cerebellum, 11(4):1026-1036.

Robberecht, Caroline; Voet, Thierry; Utine, Gülen E; Schinzel, Albert; de Leeuw, Nicole; Fryns, Jean-Pierre; Vermeesch, Joris (2012). Meiotic errors followed by two parallel postzygotic trisomy rescue events are a frequent cause of constitutional segmental mosaicism. Molecular Cytogenetics, 5:19.

Molecular Syndromology. Edited by: Rauch, Anita; et al (2012). Basel: Karger.

Rice, Gillian I; Kasher, Paul R; Forte, Gabriella M A; Mannion, Niamh M; Greenwood, Sam M; Szynkiewicz, Marcin; Dickerson, Jonathan E; Bhaskar, Sanjeev S; Zampini, Massimiliano; Briggs, Tracy A; Jenkinson, Emma M; Bacino, Carlos A; Battini, Roberta; Bertini, Enrico; Brogan, Paul A; Brueton, Louise A; Carpanelli, Marialuisa; De Laet, Corinne; de Lonlay, Pascale; del Toro, Mireia; Desguerre, Isabelle; Fazzi, Elisa; Garcia-Cazorla, Angels; Heiberg, Arvid; Kawaguchi, Masakazu; Kumar, Ram; Lin, Jean-Pierre S-M; Lourenco, Charles M; Male, Alison M; Marques Jr, Wilson; Mignot, Cyril; Olivieri, Ivana; Orcesi, Simona; Prabhakar, Prab; Rasmussen, Magnhild; Robinson, Robert A; Rozenberg, Flore; Schmidt, Johanna L; Steindl, Katharina; Tan, Tiong Y; van der Merwe, William G; Vanderver, Adeline; Vassallo, Grace; Wakeling, Emma L; Wassmer, Evangeline; Whittaker, Elizabeth; Livingston, John H; Lebon, Pierre; Suzuki, Tamio; McLaughlin, Paul J; Keegan, Liam P; O'Connell, Mary A; Lovell, Simon C; Crow, Yanick J (2012). Mutations in ADAR1 cause Aicardi-Goutières syndrome associated with a type I interferon signature. Nature Genetics, 44(11):1243-1248.

Jaureguiberry, Graciana; et al (2012). Nephrocalcinosis (enamel renal syndrome) caused by autosomal recessive FAM20A mutations. Nephron Physiology, 122(1-2):1-6.

Putoux, Audrey; Nampoothiri, Sheela; Laurent, Nicole; Cormier-Daire, Valérie; Beales, Philip L; Schinzel, Albert; Bartholdi, Deborah; Alby, Caroline; Thomas, Sophie; Elkhartoufi, Nadia; Ichkou, Amale; Litzler, Julie; Munnich, Arnold; Encha-Razavi, Férechté; Kannan, Rajesh; Faivre, Laurence; Boddaert, Nathalie; Rauch, Anita; Vekemans, Michel; Attié-Bitach, Tania (2012). Novel KIF7 mutations extend the phenotypic spectrum of acrocallosal syndrome. Journal of Medical Genetics, 49(11):713-720.

Soemedi, Rachel; Topf, Ana; Wilson, Ian J; Darlay, Rebecca; Rahman, Thahira; Glen, Elise; Hall, Darroch; Huang, Ni; Bentham, Jamie; Bhattacharya, Shoumo; Cosgrove, Catherine; Brook, J David; Granados-Riveron, Javier; Setchfield, Kerry; Bu'lock, Frances; Thornborough, Chris; Devriendt, Koenraad; Breckpot, Jeroen; Hofbeck, Michael; Lathrop, Mark; Rauch, Anita; Blue, Gillian M; Winlaw, David S; Hurles, Matthew; Santibanez-Koref, Mauro; Cordell, Heather J; Goodship, Judith A; Keavney, Bernard D (2012). Phenotype-specific effect of chromosome 1q21.1 rearrangements and GJA5 duplications in 2436 congenital heart disease patients and 6760 controls. Human Molecular Genetics, 21(7):1513-1520.

Rauch, Anita; Wieczorek, Dagmar; Graf, Elisabeth; Wieland, Thomas; Endele, Sabine; Schwarzmayr, Thomas; Albrecht, Beate; Bartholdi, Deborah; Beygo, Jasmin; Di Donato, Nataliya; Dufke, Andreas; Cremer, Kirsten; Hempel, Maja; Horn, Denise; Hoyer, Juliane; Joset, Pascal; Röpke, Albrecht; Moog, Ute; Riess, Angelika; Thiel, Christian T; Tzschach, Andreas; Wiesener, Antje; Wohlleber, Eva; Zweier, Christiane; Ekici, Arif B; Zink, Alexander M; Rump, Andreas; Meisinger, Christa; Grallert, Harald; Sticht, Heinrich; Schenck, Annette; Engels, Hartmut; Rappold, Gudrun; Schröck, Evelin; Wieacker, Peter; Riess, Olaf; Meitinger, Thomas; Reis, André; Strom, Tim M (2012). Range of genetic mutations associated with severe non-syndromic sporadic intellectual disability: an exome sequencing study. Lancet, 380(9854):1674-1682.

Gribouval, Olivier; Morinière, Vincent; Pawtowski, Audrey; Arrondel, Christelle; Sallinen, Satu-Leena; Saloranta, Carola; Clericuzio, Carol; Viot, Géraldine; Tantau, Julia; Blesson, Sophie; Cloarec, Sylvie; Machet, Marie Christine; Chitayat, David; Thauvin, Christelle; Laurent, Nicole; Sampson, Julian R; Bernstein, Jonathan A; Clemenson, Alix; Prieur, Fabienne; Daniel, Laurent; Levy-Mozziconacci, Annie; Lachlan, Katherine; Alessandri, Jean Luc; Cartault, François; Rivière, Jean Pierre; Picard, Nicole; Baumann, Clarisse; Delezoide, Anne Lise; Belar Ortega, Maria; Chassaing, Nicolas; Labrune, Philippe; Yu, Sui; Firth, Helen; Wellesley, Diana; Bitzan, Martin; Alfares, Ahmed; Braverman, Nancy; Krogh, Lotte; Tolmie, John; Gaspar, Harald; Doray, Bérénice; Majore, Silvia; Bonneau, Dominique; Triau, Stéphane; Loirat, Chantal; David, Albert; Bartholdi, Deborah; Peleg, Amir; Brackman, Damien; Stone, Rosario; Deberardinis, Ralph; Corvol, Pierre; Michaud, Annie; Antignac, Corinne; Gubler, Marie Claire (2012). Spectrum of mutations in the renin-angiotensin system genes in autosomal recessive renal tubular dysgenesis. Human Mutation, 33(2):316-326.

Zweier, M; Rauch, A (2012). The MEF2C-related and 5q14.3q15 microdeletion syndrome. Molecular Syndromology, 2(3-5):164-170.

2011

Kosztolányi, G; Brecevic, L; Bajnòczky, K; Schinzel, A; Riegel, M (2011). Mosaic supernumerary ring chromosome 1 in a three-generational family: 10-year follow-up report. European Journal of Medical Genetics, 54(2):152-156.

Abou Jamra, R; Wohlfart, Sigrun; Zweier, Markus; Uebe, Steffen; Priebe, Lutz; Ekici, Arif; Giesebrecht, Susanne; Abboud, Ahmad; Al Khateeb, Mohammed Ayman; Fakher, Mahmoud; Hamdan, Saber; Ismael, Amina; Muhammad, Safia; Nöthen, Markus M; Schumacher, Johannes; Reis, André (2011). Homozygosity mapping in 64 Syrian consanguineous families with non-specific intellectual disability reveals 11 novel loci and high heterogeneity. European Journal of Human Genetics, 19(11):1161-1166.

Oneda, Beatrice; Crettol, S; Bochud, M; Besson, J; Croquette-Krokar, M; Hämmig, R; Monnat, M; Preisig, M; Eap, C B (2011). β-Arrestin2 influences the response to methadone in opioid-dependent patients. Pharmacogenomics Journal, 11(4):258-266.

Nikisch, Georg; Baumann, Pierre; Oneda, Beatrice; Kiessling, Bernhard; Weisser, Heike; Mathé, Aleksander A; Yoshitake, Takashi; Kehr, Jan; Wiedemann, Georg; Eap, Chin B (2011). Cytochrome P450 and ABCB1 genetics: association with quetiapine and norquetiapine plasma and cerebrospinal fluid concentrations and with clinical response in patients suffering from schizophrenia. A pilot study. Journal of Psychopharmacology, 25(7):896-907.

Dobrinas, M; Cornuz, J; Oneda, Beatrice; Kohler Serra, M; Puhl, M; Eap, C B (2011). Impact of smoking, smoking cessation, and genetic polymorphisms on CYP1A2 activity and inducibility. Clinical Pharmacology and Therapeutics, 90(1):117-125.

Hofmann, K; Becker, Jutta; Heller, R; Boute, O; Andrieux, J; Hoyer, J; Ekici, A B; Reis, A; Rauch, A (2011). 7 Mb de novo deletion within 8q21 in a patient with distal arthrogryposis type 2B (DA2B). European Journal of Medical Genetics, 54(5):e495-e500.

Schinzel, Albert (2011). Achados clínicos em pacientesw com aberrações cromossômicas autossômicas. In: Weidner Maluf, Sharbel; Riegel, Mariluce. Citogenética Humana. Porto Alegre: Artmed, 317-325.

Kalay, E; et al; Rauch, A (2011). CEP152 is a genome maintenance protein disrupted in Seckel syndrome. Nature Genetics, 43(1):23-26.

Steiner, B; Rosendahl, J; Witt, H; Teich, N; Keim, V; Schulz, H U; Pfützer, R; Lühr, M; Gress, T M; Nickel, R; Landt, O; Koudova, M; Macek, M; Farre, A; Casals, T; Desax, M C; Gallati, S; Gomez-Lira, M; Audrezet, M P; Férec, C; des Georges, M; Claustres, M; Truninger, K (2011). Common CFTR haplotypes and susceptibility to chronic pancreatitis and congenital bilateral absence of the vas deferens. Human Mutation, 32(8):912-920.

Hoischen, A; van Bon, B W M; Rodríguez-Santiago, B; Gilissen, C; Vissers, L E L M; de Vries, P; Janssen, I; van Lier, B; Hastings, R; Smithson, S F; Newbury-Ecob, R; Kjaergaard, S; Goodship, J; McGowan, R; Bartholdi, D; Rauch, A; Peippo, M; Cobben, J M; Wieczorek, D; Gillessen-Kaesbach, G; Veltman, J A; Brunner, H G; de Vries, B B B A (2011). De novo nonsense mutations in ASXL1 cause Bohring-Opitz syndrome. Nature Genetics, 43(8):729-731.

Kretz, R; Bozorgmehr, B; Kariminejad, M H; Rohrbach, M; Hausser, I; Baumer, A; Baumgartner, M; Giunta, C; Kariminejad, A; Häberle, J (2011). Defect in proline synthesis: pyrroline-5-carboxylate reductase 1 deficiency leads to a complex clinical phenotype with collagen and elastin abnormalities. Journal of Inherited Metabolic Disease, 34(3):731-739.

Yakut, S; Simsek, M; Pestereli, H E; Baumer, A; Luleci, G; Schinzel, A (2011). Del (18p) syndrome with increased nuchal translucency revealed in prenatal diagnosis. Genetic Counseling, 22(3):317-319.

Kraft, M; Cirstea, I C; Voss, A K; Thomas, T; Goehring, I; Sheikh, B N; Gordon, L; Scott, H; Smyth, G K; Ahmadian, M R; Trautmann, U; Zenker, M; Tartaglia, M; Ekici, A; Reis, A; Dörr, H G; Rauch, A; Thiel, C T (2011). Disruption of the histone acetyltransferase MYST4 leads to a Noonan syndrome-like phenotype and hyperactivated MAPK signaling in humans and mice. Journal of Clinical Investigation, 121(9):3479-3491.

Gregor, A; Albrecht, B; Bader, I; Bijlsma, E K; Ekici, A B; Engels, H; Hackmann, K; Horn, D; Hoyer, J; Klapecki, J; Kohlhase, J; Maystadt, I; Nagl, S; Prott, E; Tinschert, S; Ullmann, R; Wohlleber, E; Woods, G; Reis, A; Rauch, A; Zweier, C (2011). Expanding the clinical spectrum associated with defects in CNTNAP2 and NRXN1. BMC Medical Genetics, 12:106.

Zahnleiter, D; Trautmann, U; Ekici, A B; Goehring, I; Reis, A; Dörr, H G; Rauch, A; Thiel, C T (2011). Familial short stature due to a 5q22.1-q23.2 duplication refines the 5q duplication spectrum. European Journal of Medical Genetics, 54(5):e521-e524.

Templin, C; Ghadri, J R; Rougier, J S; Baumer, A; Kaplan, V; Albesa, M; Sticht, H; Rauch, A; Puleo, C; Hu, D; Barajas-Martinez, H; Antzelevitch, C; Lüscher, T F; Abriel, H; Duru, F (2011). Identification of a novel loss-of-function calcium channel gene mutation in short QT syndrome (SQTS6). European Heart Journal, 32(9):1077-1088.

Busche, A; Graul-Neumann, L M; Zweier, C; Rauch, A; Klopocki, E; Horn, D (2011). Microdeletions of chromosome 7p21, including TWIST1, associated with significant microcephaly, facial dysmorphism, and short stature. European Journal of Medical Genetics, 54(3):256-261.

Jacquemont, S; Reymond, A; Zufferey, F; Harewood, L; et al; Fernández-Aranda, Fernando (2011). Mirror extreme BMI phenotypes associated with gene dosage at the chromosome 16p11.2 locus. Nature, 478(7367):97-102.

Thiel, C; Kessler, K; Giessl, A; Dimmler, A; Shalev, S A; von der Haar, S; Zenker, M; Zahnleiter, D; Stöss, H; Beinder, E; Abou Jamra, R; Ekici, A; Schröder-Kress, N; Aigner, T; Kirchner, T; Reis, A; Brandstätter, J H; Rauch, A (2011). NEK1 mutations cause short-rib polydactyly syndrome type majewski. American Journal of Human Genetics, 88(1):106-14.

Odak, L; Barisić, I; Morozin Pohovski, L; Riegel, M; Schinzel, A (2011). Novel duplication on chromosome 16 (q12.1-q21) associated with behavioral disorder, mild cognitive impairment, speech delay, and dysmorphic features: case report. Croatian Medical Journal, 52(3):415-22.

Kariminejad, A; Kariminejad, R; Moshtagh, A; Zanganeh, M; Kariminejad, M H; Neuenschwander, S; Okoniewski, M; Wey, E; Schinzel, A; Baumer, A (2011). Pericentric inversion of chromosome 18 in parents leading to a phenotypically normal child with segmental uniparental disomy 18. European Journal of Human Genetics, 19(5):555-560.

Kortüm, F; Das, S; Flindt, M; Morris-Rosendahl, D J; Stefanova, I; Goldstein, A; Horn, D; Klopocki, E; Kluger, G; Martin, P; Rauch, A; Roumer, A; Saitta, S; Walsh, L E; Wieczorek, D; Uyanik, G; Kutsche, K; Dobyns, W B (2011). The core FOXG1 syndrome phenotype consists of postnatal microcephaly, severe mental retardation, absent language, dyskinesia, and corpus callosum hypogenesis. Journal of Medical Genetics, 48(6):396-406.

Holman, S K; Daniel, P; Jenkins, Z A; Herron, R L; Morgan, T; Savarirayan, R; Chow, C W; Bohring, A; Mosel, A; Lacombe, D; Steiner, B; Schmitt-Mechelke, T; Schroter, B; Raas-Rothschild, A; Miñaur, S G; Porteous, M; Parker, M; Quarrell, O; Tapon, D; Cormier-Daire, V; Mansour, S; Nash, R; Bindoff, L A; Fiskerstrand, T; Robertson, S P (2011). The male phenotype in osteopathia striata congenita with cranial sclerosis. American Journal of Medical Genetics. Part A, 155(10):2397-2408.

Thiel, C T; Rauch, A (2011). The molecular basis of the cartilage-hair hypoplasia–anauxetic dysplasia spectrum. Best Practice & Research: Clinical Endocrinology & Metabolism, 25(1):131-142.

Rauch, A (2011). The shortest of the short: Pericentrin mutations and beyond. Best Practice & Research: Clinical Endocrinology & Metabolism, 25(1):125-130.

Kantaputra, P; Tanpaiboon, P; Porntaveetus, T; Ohazama, A; Sharpe, P; Rauch, A; Hussadaloy, A; Thiel, C T (2011). The smallest teeth in the world are caused by mutations in the PCNT gene. American Journal of Medical Genetics. Part A, 155(6):1398-1403.

2010

Steindl, Katharina; Alazami, A M; Bhatia, K P; Wuerfel, J T; Petersen, D; Cartolari, R; Neri, G; Klein, C; Mongiardo, B; Alkuraya, F S; Schneider, S A (2010). A novel C2orf37 mutation causes the first Italian cases of Woodhouse Sakati syndrome. Clinical Genetics, 78(6):594-597.

Alazami, A M; Schneider, S A; Bonneau, D; Pasquier, L; Carecchio, M; Kojovic, M; Steindl, Katharina; de Kerdanet, M; Nezarati, M M; Bhatia, K P; Degos, B; Goh, E; Alkuraya, F S (2010). C2orf37 mutational spectrum in Woodhouse-Sakati syndrome patients. Clinical Genetics, 78(6):585-590.

Oneda, Beatrice; Preisig, M; Dobrinas, M; Eap, C B (2010). Lack of association between genetic polymorphisms of ARRB2 and alcohol dependence in a Caucasian population. Alcohol and Alcoholism, 45(6):590-591.

Berger, W; Kloeckener-Gruissem, B; Neidhardt, J (2010). The molecular basis of human retinal and vitreoretinal diseases. Progress in Retinal and Eye Research, 29(5):335-375.

Poloschek, C M; Bach, M; Lagrèze, W A; Glaus, E; Lemke, J R; Berger, W; Neidhardt, J (2010). ABCA4 and ROM1: implications for modification of the PRPH2-associated macular dystrophy phenotype. Investigative Ophthalmology and Visual Science, 51(8):4253-4265.

Zuercher, J; Neidhardt, J; Magyar, I; Labs, S; Moore, A T; Tanner, F C; Waseem, N; Schorderet, D F; Munier, F L; Bhattacharya, S; Berger, W; Kloeckener-Gruissem, B (2010). Alterations of the 5'untranslated region of SLC16A12 lead to age-related cataract. Investigative Ophthalmology and Visual Science, 51(7):3354-3361.

Zeisberger, S M; Zoller, S; Riegel, M; Chen, S; Krenning, G; Harmsen, M C; Sachinidis, A; Zisch, A H (2010). Optimization of the culturing conditions of human umbilical cord blood-derived endothelial colony-forming cells under xeno-free conditions applying a transcriptomic approach. Genes to Cells, 15(7):671-687.

Rauch, R; Hofbeck, M; Zweier, C; Koch, A; Zink, S; Trautmann, U; Hoyer, J; Kaulitz, R; Singer, H; Rauch, A (2010). Comprehensive genotype-phenotype analysis in 230 patients with tetralogy of Fallot. Journal of Medical Genetics, 47(5):321-331.

Moreira, L; Schinzel, A; Baumer, A; Pinto, P; Góes, F; de Lourdes Falcao, M; Barbosa, A L; Riegel, M (2010). Erratum to “Longitudinal Observation of a Patient With Rieger Syndrome and Interstitial Deletion 4 (q25-q31.1)” [Am J Med Genet Part A 152A:977-981]. American Journal of Medical Genetics. Part A, 152A(6):1602-1603.

Shimomura, Y; Agalliu, D; Vonica, A; Luria, V; Wajid, M; Baumer, A; Belli, S; Petukhova, L; Schinzel, A; Brivanlou, A H; Barres, B A; Christiano, A M (2010). APCDD1 is a novel Wnt inhibitor mutated in hereditary hypotrichosis simplex. Nature Medicine, 464(7291):1043-1047.

Moreira, L; Schinzel, A; Baumer, A; Pinto, P; Góes, F; de Lourdes Falcão, M; Barbosa, A L; Riegel, M (2010). Longitudinal observation of a patient with Rieger syndrome and interstitial deletion 4 (q25-q31.1). American Journal of Medical Genetics. Part A, 152A(4):977-981.

Schmid, F; Glaus, E; Kloeckener-Gruissem, B; Berger, W; Neidhardt, J (2010). Mutation- and Tissue-Specific Alterations of RPGR Transcripts. Investigative Ophthalmology and Visual Science, 51(3):1628-1635.

Brunner, S; Skosyrski, S; Kirschner-Schwabe, R; Knobeloch, K-P; Neidhardt, J; Feil, S; Glaus, E; Luhmann, U F O; Rüther, K; Berger, W (2010). Cone versus rod disease in a mutant Rpgr mouse caused by different genetic backgrounds. Investigative Ophthalmology and Visual Science, 51(2):1106-1115.

Göhring, I; Tagariello, A; Endele, S; Stolt, C C; Ghassibé, M; Fisher, M; Thiel, C T; Trautmann, U; Vikkula, M; Winterpacht, A; FitzPatrick, D R; Rauch, A (2010). Disruption of ST5 is associated with mental-retardation and multiple congenital anomalies. Journal of Medical Genetics, 47(2):91-98.

Rauch, Anita (2010). Editorial. Molecular Syndromology, 1:1.

Steiner, B; Bartholdi, D (2010). Medizinische Genetik: Geld, Geist und Gene. Swiss Medical Forum, 10(1-2):8-10.

Smigiel, R; Szafranska, A; Czyzewska, M; Rauch, A; Zweier, C; Patkowski, D (2010). Severe clinical course of Hirschsprung disease in a Mowat-Wilson syndrome patient. Journal of Applied Genetics:1-3.

Minder, E I; Schneider-Yin, X; Mamet, R; Horev, L; Neuenschwander, S; Baumer, A; Austerlitz, F; Puy, H; Schoenfeld, N (2010). A homoallelic FECH mutation in a patient with both erythropoietic protoporphyria and palmar keratoderma. Journal of the European Academy of Dermatology and Venereology, 24(11):1349-1353.

Orrico, A; Galli, L; Faivre, L; Clayton-Smith, J; Azzarello-Burri, S M; Hertz, J M; Jacquemont, S; Taurisano, R; Arroyo Carrera, I; Tarantino, E; Devriendt, K; Melis, D; Thelle, T; Meinhardt, U; Sorrentino, V (2010). Aarskog-Scott syndrome: Clinical update and report of nine novel mutations of theFGD1gene. American Journal of Medical Genetics. Part A, 152A(2):313-318.

Renard, M; Holm, T; Regan, V; Callewaert, B L; Adès, L C; Baspinar, O; Pickart, A; Dasouki, M; Hoyer, J; Rauch, A; Trapane, P; Earing, M G; Coucke, P J; Sakai, L Y; Dietz, H C; De Paepe, A M; Loeys, B L (2010). Altered TGFβ signaling and cardiovascular manifestations in patients with autosomal recessive cutis laxa type I caused by fibulin-4 deficiency. European Journal of Human Genetics, 18(8):895-901.

Ekici, A B; Hilfinger, D; Jatzwauk, M; Thiel, C T; Wenzel, D; Lorenz, I; Boltshauser, E; Goecke, T W; Staatz, G; Morris-Rosendahl, D J; Sticht, H; Hehr, U; Reis, A; Rauch, A (2010). Disturbed wnt signalling due to a mutation in CCDC88C causes an autosomal recessive non-syndromic hydrocephalus with medial diverticulum. Molecular Syndromology, 1(3):99-112.

Rauch, A (2010). Editorial. Molecular Syndromology, 1(1):1.

Meienberg, J; Rohrbach, M; Neuenschwander, S; Spanaus, K; Giunta, C; Alonso, S; Arnold, E; Henggeler, C; Regenass, S; Patrignani, A; Azzarello-Burri, S; Steiner, B; Nygren, A; Carrel, T; Steinmann, B; Matyas, G (2010). Hemizygous deletion of COL3A1, COL5A2, and MSTN causes a complex phenotype with aortic dissection: a lesson for and from true haploinsufficiency. European Journal of Human Genetics, 18(12):1315-1321.

Isidor, B; Pichon, O; Redon, R; Day-Salvatore, D; Hamel, A; Siwicka, K A; Bitner-Glindzicz, M; Heymann, D; Kjellén, L; Kraus, C; Leroy, J G; Mortier, G R; Rauch, A; Verloes, A; David, A; Le Caignec, C (2010). Mesomelia-synostoses syndrome results from deletion of SULF1 and SLCO5A1 genes at 8q13. American Journal of Human Genetics, 87(1):95-100.

Sharp, A J; Migliavacca, E; Dupre, Y; Stathaki, E; Sailani, M R; Baumer, A; Schinzel, A; Mackay, D J; Robinson, D O; Cobellis, G; Cobellis, L; Brunner, H G; Steiner, B; Antonarakis, S E (2010). Methylation profiling in individuals with uniparental disomy identifies novel differentially methylated regions on chromosome 15. Genome Research, 20(9):1271-1278.

Johnston, J J; Sapp, J C; Turner, J T; et al; Stephan, M J (2010). Molecular analysis expands the spectrum of phenotypes associated with GLI3 mutations. Human Mutation, 31(10):1142-1154.

Semenov, O V; Koestenbauer, S; Riegel, M; Zech, N; Zimmermann, R; Zisch, A; Malek, A (2010). Multipotent mesenchymal stem cells from human placenta: critical parameters for isolation and maintenance of stemness after isolation. American Journal of Obstetrics and Gynecology, 202(2):193.e1-193.e13.

Endele, S; Rosenberger, G; Geider, K; Popp, B; Tamer, C; Stefanova, I; Milh, M; Kortüm, F; Fritsch, A; Pientka, F K; Hellenbroich, Y; Kalscheuer, V M; Kohlhase, J; Moog, U; Rappold, G; Rauch, A; Ropers, H H; von Spiczak, S; Tönnies, H; Villeneuve, N; Villard, L; Zabel, B; Zenker, M; Laube, B; Reis, A; Wieczorek, D; Van Maldergem, L; Kutsche, K (2010). Mutations in GRIN2A and GRIN2B encoding regulatory subunits of NMDA receptors cause variable neurodevelopmental phenotypes. Nature Genetics, 42(11):1021-1026.

Zweier, M; Rauch, A; et al (2010). Mutations in MEF2C from the 5q14.3q15 microdeletion syndrome region are a frequent cause of severe mental retardation and diminish MECP2 and CDKL5 expression. Human Mutation, 31(6):722-733.

von Kanel, T; Gerber, D; Schaller, A; Baumer, A; Wey, E; Jackson, C B; Gisler, F M; Heinimann, K; Gallati, S (2010). Quantitative 1-step DNA methylation analysis with native genomic DNA as template. Clinical Chemistry, 56(7):1098-1106.

Griffin, H R; Töpf, A; Glen, E; Zweier, C; Stuart, A G; Parsons, J; Peart, I; Deanfield, J; O'Sullivan, J; Rauch, A; Scambler, P; Burn, J; Cordell, H J; Keavney, B; Goodship, J A (2010). Systematic survey of variants in TBX1 in non-syndromic tetralogy of Fallot identifies a novel 57 base pair deletion that reduces transcriptional activity but finds no evidence for association with common variants. Heart, 96(20):1651-1655.

Allanson, J E; Bohring, A; Dörr, H G; Dufke, A; Gillessen-Kaesbach, G; Horn, D; König, R; Kratz, C P; Kutsche, K; Pauli, S; Raskin, S; Rauch, A; Turner, A; Wieczorek, D; Zenker, M (2010). The face of Noonan syndrome: Does phenotype predict genotype. American Journal of Medical Genetics. Part A, 152A(8):1960-1966.

Makarov, R; Steiner, B; Gucev, Z; Tasic, V; Wieacker, P; Wieland, I (2010). The impact of CFNS-causing EFNB1 mutations on ephrin-B1 function. BMC Medical Genetics, 11:98.

2009

Vandewalle, J; Van Esch, H; Govaerts, K; Verbeeck, J; Zweier, C; Madrigal, I; Mila, M; Pijkels, E; Fernandez, I; Kohlhase, J; Spaich, C; Rauch, A; Fryns, J P; Marynen, P; Froyen, G (2009). Dosage-dependent severity of the phenotype in patients with mental retardation due to a recurrent copy-number gain at Xq28 mediated by an unusual recombination. American Journal of Human Genetics, 85(6):809-822.

Zeitz, C; Labs, S; Lorenz, B; Forster, U; Üksti, J; Kroes, H Y; De Baere, E; Leroy, B P; Cremers, F P M; Wittmer, M; van Genderen, M M; Sahel, J A; Audo, I; Poloschek, C M; Mohand-Said, S; Fleischhauer, J C; Hüffmeier, U; Moskova-Doumanova, V; Levin, A V; Hamel, C P; Leifert, D; Munier, F L; Schorderet, D F; Zrenner, E; Friedburg, C; Wissinger, B; Kohl, S; Berger, W (2009). Genotyping Microarray for CSNB-Associated Genes. Investigative Ophthalmology and Visual Science, 12(50):5919-5926.

Zweier, C; de Jong, E K; Zweier, M; Oricco, A; Ousager, L B; Collins, A L; Bijlsma, E K; Oortveld, M A W; Ekici, A B; Reis, A; Schenck, A; Rauch, A (2009). CNTNAP2 and NRXN1 are mutated in autosomal-recessive Pitt-Hopkins-like mental retardation and determine the level of a common synaptic protein in Drosophila. American Journal of Human Genetics, 85(5):655-666.

Lyle, R; Béna, F; Gagos, Sarantis; et al; Schinzel, Albert (2009). Genotype-phenotype correlations in Down syndrome identified by array CGH in 30 cases of partial trisomy and partial monosomy chromosome 21. European Journal of Human Genetics, 17(4):454-466.

Lemke, J R; Beck-Wödl, S; Zankl, A; Riegel, M; Krämer, G; Dorn, T (2009). Juvenile myoclonic epilepsy with photosensitivity in a female with Velocardiofacial syndrome (del(22)(q11.2))--causal relationship or coincidence? Seizure - European Journal of Epilepsy, 18(9):660-663.

Schinzel, Albert (2009). The difficulty to classify complex dysmorphic syndromes on the ward. European Journal of Human Genetics, 17(11):1525.

Oneda, Beatrice; Crettol, Severine; Jaquenoud Sirot, Evelyne; Bochud, Murielle; Ansermot, Nicolas; Eap, Chin B (2009). The P450 oxidoreductase genotype is associated with CYP3A activity in vivo as measured by the midazolam phenotyping test. Pharmacogenetics and Genomics, 19(11):877-883.

Segel, R; Levy-Lahad, E; Pasutto, F; Picard, E; Rauch, A; Alterescu, G; Schimmel, M S (2009). Pulmonary hypoplasia-diaphragmatic hernia-anophthalmia-cardiac defect (PDAC) syndrome due to STRA6 mutations--what are the minimal criteria? American Journal of Medical Genetics. Part A, 149A(11):2457-2463.

Valencia, M; Lapunzina, P; Lim, D; Zannolli, R; Bartholdi, D; Wollnik, B; Al-Ajlouni, O; Eid, S S; Cox, H; Buoni, S; Hayek, J; Martinez-Frias, M L; Perez-Aytes, A; Temtamy, S; Aglan, M; Goodship, J A; Ruiz-Perez, V L (2009). Widening the mutation spectrum of EVC and EVC2: ectopic expression of Weyer variants in NIH 3T3 fibroblasts disrupts Hedgehog signaling. Human Mutation, 30(12):1667-1675.

Kleefstra, T; van Zelst-Stams, W A; Nillesen, W M; Cormier-Daire, V; Houge, G; Foulds, N; van Dooren, M; Willemsen, M H; Pfundt, R; Turner, A; Wilson, M; McGaughran, J; Rauch, A; Zenker, M; Adam, M P; Innes, M; Davies, C; González-Meneses López, A; Casalone, R; Weber, A; Brueton, L A; Delicado Navarro, A; Palomares Bralo, M; Venselaar, H; Stegmann, S P A; Yntema, H G; van Bokhoven, H; Brunner, H G (2009). Further clinical and molecular delineation of the 9q subtelomeric deletion syndrome supports a major contribution of EHMT1 haploinsufficiency to the core phenotype. Journal of Medical Genetics, 46(9):598-606.

Hoyer, J; Kraus, C; Hammersen, G; Geppert, J P; Rauch, A (2009). Lethal cutis laxa with contractural arachnodactyly, overgrowth and soft tissue bleeding due to a novel homozygous fibulin-4 gene mutation. Clinical Genetics, 76(3):276-281.

Türkkani-Asal, G; Alanay, Y; Turul-Özgür, T; Zenker, M; Thiel, C; Rauch, A; Ünal, Ş; Gürgey, A; Tezcan, I (2009). Mild clinical phenotype and subtle radiographic findings in an infant with cartilage-hair hypoplasia. Turkish Journal of Pediatrics, 51(5):493-496.

Magyar, I; Colman, D; Arnold, E; Baumgartner, D; Bottani, A; Fokstuen, S; Addor, M C; Berger, W; Carrel, T; Steinmann, B; Mátyás, G (2009). Quantitative sequence analysis of FBN1 premature termination codons provides evidence for incomplete NMD in leukocytes. Human Mutation, 30(9):1355-1364.

Cordeddu, V; et al (2009). Mutation of SHOC2 promotes aberrant protein N-myristoylation and causes Noonan-like syndrome with loose anagen hair. Nature Genetics, 41(9):1022-1026.

Jaquenoud Sirot, Eveline; Knezevic, Branka; Morena, Gina Perla; Harenberg, Sabine; Oneda, Beatrice; Crettol, Severine; Ansermot, Nicolas; Baumann, Pierre; Eap, Chin B (2009). ABCB1 and cytochrome P450 polymorphisms: clinical pharmacogenetics of clozapine. Journal of Clinical Psychopharmacology, 29(4):319-326.

Thiel, C; Wilken, M; Zenker, M; Sticht, H; Fahsold, R; Gusek-Schneider, G C; Rauch, A (2009). Independent NF1 and PTPN11 mutations in a family with neurofibromatosis-Noonan syndrome. American Journal of Medical Genetics. Part A, 149A(6):1263-1267.

Tibelius, A; Marhold, J; Zentgraf, H; Heilig, C E; Neitzel, H; Ducommun, B; Rauch, A; Ho, A D; Bartek, J; Krämer, A (2009). Microcephalin and pericentrin regulate mitotic entry via centrosome-associated Chk1. Journal of Cell Biology, 185(7):1149-1157.

Banerjee, S; Oneda, Beatrice; Yap, L M; Jewell, D P; Matters, G L; Fitzpatrick, L R; Seibold, F; Sterchi, E E; Ahmad, T; Lottaz, D; Bond, J S (2009). MEP1A allele for meprin A metalloprotease is a susceptibility gene for inflammatory bowel disease. Mucosal Immunology, 2(3):220-231.

Hilton, Emma; Johnston, J; Whalen, S; Okamoto, N; et al; Schinzel, Albert (2009). BCOR analysis in patients with OFCD and Lenz microphthalmia syndromes, mental retardation with ocular anomalies, and cardiac laterality defects. European Journal of Human Genetics, 17(10):1325-1335.

Niedrist, D; Joncourt, F; Matyas, G; Müller, A (2009). Severe phenotype with cis-acting heterozygous PMP22 mutations. Clinical Genetics, 75(3):286-289.

Harmsen, M B; Azzarello-Burri, S; García Gonzalez, M M; Gillessen-Kaesbach, G; Meinecke, P; Müller, D; Rauch, A; Rossier, E; Seemanova, E; Spaich, C; Steiner, B; Wieczorek, D; Zenker, M; Kutsche, K (2009). Goltz–Gorlin (focal dermal hypoplasia) and the microphthalmia with linear skin defects (MLS) syndrome: no evidence of genetic overlap. European Journal of Human Genetics, 17(10):1207-1215.

Schäfer, N F; Luhmann, U F O; Feil, S; Berger, W (2009). Differential gene expression in Ndph knockout mice in retinal development. Investigative Ophthalmology and Visual Science, 50(2):906-916.

Tanner, G; Glaus, E; Barthelmes, D; Ader, M; Fleischhauer, J; Pagani, F; Berger, W; Neidhardt, J (2009). Therapeutic strategy to rescue mutation-induced exon skipping in rhodopsin by adaptation of U1 snRNA. Human Mutation, 30(2):255-263.

Niedrist, D; Lurie, I W; Schinzel, A (2009). 4q32-q35 and 6q16-q22 are valuable candidate regions for split hand/foot malformation. European Journal of Human Genetics, 17(8):1086-1091.

Engels, H; Wohlleber, E; Zink, A; Hoyer, J; Ludwig, K U; Brockschmidt, F F; Wieczorek, D; Moog, U; Hellmann-Mersch, B; Weber, R G; Willatt, L; Kreiss-Nachtsheim, M; Firth, H V; Rauch, A (2009). A novel microdeletion syndrome involving 5q14.3-q15: clinical and molecular cytogenetic characterization of three patients. European Journal of Human Genetics, 17(12):1592-9.

Bartholdi, D; Krajewska-Walasek, M; Ounap, K; Gaspar, H; Chrzanowska, K H; Ilyana, H; Kayserili, H; Lurie, I W; Schinzel, A; Baumer, A (2009). Epigenetic mutations of the imprinted IGF2-H19 domain in Silver-Russell Syndrome (SRS): Results from a large cohort of patients with SRS and SRS-like phenotypes. Journal of Medical Genetics, 46(3):192-197.

Baumer Wolz, Alessandra; Schinzel, Albert (2009). Inv Dup(15). In: Lang, Florian. Encyclopedia of Molecular Mechanisms of Disease. Berlin, Heidelberg: Springre, 1077-1078.

Paskulin, G A; Riegel, M; Cotter, P D; Kiss, A; Rosa, R F M; Zen, P R G; Mombach, R; Graziadio, C (2009). Inv dup del(4)(:p13 → p16.3::p16.3 → qter) in a girl without typical manifestations of Wolf-Hirschhorn syndrome. American Journal of Medical Genetics Part A, 149A(6):1302-1307.

Bernier-Latmani, J; Baumer, A; Shaw, P (2009). No evidence for mutations of CTCFL/BORIS in Silver-Russell syndrome patients with IGF2/H19 imprinting control region 1 hypomethylation. PLoS ONE, 4(8):e6631.

Eberle, P; Berger, C; Junge, S; Dougoud, S; Valsangiacomo Büchel, Emanuela R; Riegel, M; Schinzel, A; Seger, R; Güngör, Tayfun (2009). Persistent low thymic activity and non-cardiac mortality in children with chromosome 22q11.2 microdeletion and partial DiGeorge syndrome. Clinical and Experimental Immunology, 155(2):189-198.

Schinzel, A (2009). Syndrome diagnosis on the ward The difficulty to classify complex dysmorphic syndromes on the ward. European Journal of Human Genetics, 17(11):1525.

Bartholdi, Deborah; Schinzel, Albert (2009). Terminal Deletions of 13q. In: Lang, Florian. Encyclopedia of Molecular Mechanisms of Disease. Berlin: Springer, 2032-2034.

Bartholdi, Deborah; Schinzel, Albert (2009). Terminal Deletions of 18p. In: Lang, Florian. Encyclopedia of Molecular Mechanisms of Disease. Berlin: Springer, 2034-2035.

Bartholdi, Deborah; Schinzel, Albert (2009). Terminal Deletions of 18q. In: Lang, Florian. Encyclopedia of Molecular Mechanisms of Disease. Berlin: Springer, 2035.

Bartholdi, Deborah; Schinzel, Albert (2009). Trisomy 13. In: Lang, Florian. Encyclopedia of Molecular Mechanisms of Disease. Berlin: Springer, 2113-2114.

Bartholdi, Deborah; Schinzel, Albert (2009). Trisomy 18. In: Lang, Florian. Encyclopedia of Molecular Mechanisms of Disease. Berlin: Springer, 2116-2117.

Bartholdi, Deborah; Schinzel, Albert (2009). X Chromosome Trisomy and Tetrasomy. In: Lang, Florian. Encyclopedia of Molecular Mechanisms of Disease. Berlin: Springer, 2256.

Bartholdi, Deborah; Schinzel, Albert (2009). X Polysomies, in Females. In: Lang, Florian. Encyclopedia of Molecular Mechanisms of Disease. Berlin: Springer, 2257.

Bartholdi, Deborah; Schinzel, Albert (2009). X Polysomy, in Males. In: Lang, Florian. Encyclopedia of Molecular Mechanisms of Disease. Berlin: Springer, 2257-2258.

Bartholdi, Deborah; Schinzel, Albert (2009). X and Y Polysomies, in Males. In: Lang, Florian. Encyclopedia of Molecular Mechanisms of Disease. Berlin, Heidelberg: Springer, 2255-2256.

Bartholdi, Deborah; Schinzel, Albert (2009). Y Polysomies, in Males. In: Lang, Florian. Encyclopedia of Molecular Mechanisms of Disease. Berlin: Springer, 2265-2266.

2008

Ambort, Daniel; Stalder, Daniel; Lottaz, Daniel; Huguenin, Maya; Oneda, Beatrice; Heller, Manfred; Sterchi, Erwin E (2008). A novel 2D-based approach to the discovery of candidate substrates for the metalloendopeptidase meprin. FEBS Journal, 275(18):4490-509.

Gex-Fabry, Marianne; Eap, Chin B; Oneda, Beatrice; Gervasoni, Nicola; Aubry, Jean-Michel; Bondolfi, Guido; Bertschy, Gilles (2008). CYP2D6 and ABCB1 genetic variability: influence on paroxetine plasma level and therapeutic response. Therapeutic drug monitoring, 30(4):474-82.

Oneda, Beatrice; Lods, Nadège; Lottaz, Daniel; Becker-Pauly, Christoph; Stöcker, Walter; Pippin, Jeffrey; Huguenin, Maya; Ambort, Daniel; Marti, Hans-Peter; Sterchi, Erwin E (2008). Metalloprotease meprin beta in rat kidney: glomerular localization and differential expression in glomerulonephritis. PLoS ONE, 3(5):e2278.

Kos, S; Roth, K; Korinth, D; Zeilinger, G; Eich, G (2008). Hydrometrocolpos, postaxial polydactyly, and hypothalamic hamartoma in a patient with confirmed Pallister-Hall syndrome: a clinical overlap with McKusick-Kaufman syndrome. Pediatric Radiology, 38(8):902-906.

Huguenin, Maya; Müller, Eliane J; Trachsel-Rösmann, Sandra; Oneda, Beatrice; Ambort, Daniel; Sterchi, Erwin E; Lottaz, Daniel (2008). The metalloprotease meprinbeta processes E-cadherin and weakens intercellular adhesion. PLoS ONE, 3(5):e2153.

Schinzel, Albert (2008). Complete and partial trisomy 8. Clinical Genetics, 18(4):314.

Rodewald, A; Froster-Iskenius, U; Kab, E; Langenbeck, U; Schinzel, Albert; Schmidt, A; Schwinger, E; Steinbach, P; Veenema, H; Wegner, R -D; Wirtz, A; Zankl, H; Zankl, M (2008). Dermatoglyphic peculiarities in families with X-linked mental retardation and fragile site Xq27: a collaborative study. Clinical Genetics, 30(1):1-13.

Bartholdi, D; Toelle, S P; Steiner, B; Boltshauser, E; Schinzel, A; Riegel, M (2008). Blepharophimosis and mental retardation (BMR) phenotypes caused by chromosomal rearrangements: description in a boy with partial trisomy 10q and monosomy 4q and review of the literature. European Journal of Medical Genetics, 51(2):113-123.

Unger, S; Böhm, D; Kaiser, F J; Kaulfuss, S; Borozdin, W; Buiting, K; Burfeind, P; Böhm, J; Barrionuevo, F; Craig, A; Borowski, K; Keppler-Noreuil, K; Schmitt-Mechelke, T; Steiner, B; Bartholdi, D; Lemke, J; Mortier, G; Sandford, R; Zabel, B; Superti-Furga, A; Kohlhase, J (2008). Mutations in the cyclin family member FAM58A cause an X-linked dominant disorder characterized by syndactyly, telecanthus and anogenital and renal malformations. Nature Genetics, 40(3):287-289.

Kyburz, A; Bauersfeld, U; Schinzel, A; Riegel, M; Hug, M; Tomaske, M; Valsangiacomo Büchel, Emanuela R (2008). The fate of children with microdeletion 22q11.2 syndrome and congenital heart defect: clinical course and cardiac outcome. Pediatric Cardiology, 29(1):76-83.

Acta Medica Lithuanica. Edited by: Schinzel, A (2008). Vilnius, Lithuania: Lithuanian Academy of Sciences Publishers.

Witsch-Baumgartner, M; Schwentner, I; Gruber, M; Benlian, P; Bertranpetit, J; Bieth, E; Chevy, F; Clusellas, N; Estivill, X; Gasparini, G; Giros, M; Kelley, R I; Krajewska-Walasek, M; Menzel, J; Miettinen, T; Ogorelkova, M; Rossi, M; Scala, I; Schinzel, A; Schmidt, K; Schönitzer, D; Seemanova, E; Sperling, K; Syrrou, M; Talmud, P J; Wollnik, B; Krawczak, M; Labuda, D; Utermann, G (2008). Age and origin of major Smith-Lemli-Opitz syndrome (SLOS) mutations in European populations. Journal of Medical Genetics, 45(4):200-209.

Badertscher, A; Bauersfeld, U; Arbenz, U; Baumgartner, M R; Schinzel, A; Balmer, C (2008). Cardiomyopathy in newborns and infants: a broad spectrum of aetiologies and poor prognosis. Acta Paediatrica, 97(11):1523-1528.

Tzschach, A; Chen, W; Erdogan, F; Hoeller, A; Ropers, H H; Castellan, Claudio; Ullmann, R; Schinzel, A (2008). Characterization of interstitial Xp duplications in two families by tiling path array CGH. American Journal of Medical Genetics. Part A, 146A(2):197-203.

Tyshchenko, N; Lurie, I; Schinzel, A (2008). Chromosomal map of human brain malformations. Human genetics, 124(1):73-80.

Schinzel, A (2008). Chromosomes came first: first years of human chromosomes. The beginnings of human cytogenetics. European Journal of Human Genetics, 16(6):766-767.

Gaspar, H; Albermann, K; Baumer, A; Schinzel, A (2008). Clinical delineation of Giuffrè-Tsukahara syndrome: another case with microcephaly and radio-ulnar synostosis with apparent X-linked semi-dominant inheritance. American Journal of Medical Genetics. Part A, 146A(11):1453-1457.

Schinzel, A (2008). Congenital malformations : All I wanted to know about congenital developmental defects. European Journal of Human Genetics, 16:274.

Rossi, E; Riegel, M; Messa, J; Gimelli, S; Maraschio, P; Ciccone, R; Stroppi, M; Riva, P; Perrotta, C S; Mattina, T; Memo, L; Baumer, A; Kucinskas, V; Castellan, C; Schinzel, A; Zuffardi, O (2008). Duplications in addition to terminal deletions are present in a proportion of ring chromosomes: clues to the mechanisms of formation. Journal of Medical Genetics, 45(3):147-54.

Egyptian Medical Journal of the National Research Center, MJNRC. Edited by: Schinzel, Albert (2008). Cairo: Academy of Scientific Research and Technology.

Bartholdi, D. Epigenetic etiology of rare, complex syndromes: The examples of Rett, Rubinstein-Taybi and Prader-Willi syndrome. 2008, University of Zurich, Faculty of Medicine.

Expert Reviews in Molecular Medicine. Edited by: Schinzel, A (2008). Cambridge, UK: Cambridge University Press.

Poretti, A; Bartholdi, D; Gobara, S; Alber, F D; Boltshauser, E (2008). Gomez-Lopez-Hernandez syndrome: an easily missed diagnosis. European Journal of Medical Genetics, 51(3):197-208.

Zeitz, C; Gross, A K; Leifert, D; Kloeckener-Gruissem, B; McAlear, S D; Lemke, J; Neidhardt, G; Berger, W (2008). Identification and functional characterization of a novel rhodopsin mutation associated with autosomal dominant CSNB. Investigative Ophthalmology and Visual Science, 49(9):4105-4114.

Tyshchenko, Nataliya. Identification of candidate loci for congenital brain defects with the help of unbalanced chromosome aberrations. 2008, University of Zurich, Faculty of Medicine.

Koolen, D A; Sistermans, E A; Nilessen, W; Knight, S J L; Regan, R; Liu, Y T; Kooy, R F; Rooms, L; Romano, C; Fichera, M; Schinzel, A; Baumer, A; Anderlid, B M; Schoumans, J; van Kessel, A G; Nordenskjold, M; de Vries, B B A (2008). Identification of non-recurrent submicroscopic genome imbalances: the advantage of genome-wide microarrays over targeted approaches. European Journal of Human Genetics, 16(3):395-400.

Neidhardt, J; et al; Glaus, E; Lorenz, B (2008). Identification of novel mutations in X-linked retinitis pigmentosa families and implications for diagnostic testing. Molecular Vision, 14:1081-1093.

Journal of Human Genetics. Edited by: Schinzel, A (2008). Japan: Springer.

Zech, N H; Wisser, J; Natalucci, G; Riegel, M; Baumer, A; Schinzel, A (2008). Monochorionic-diamniotic twins discordant in gender from a naturally conceived pregnancy through postzygotic sex chromosome loss in a 47,XXY zygote. Prenatal Diagnosis, 28(8):759-763.

Schulz, A L; Albrecht, B; Arici, C; van der Burgt, I; Buske, A; Gillessen-Kaesbach, G; Heller, R; Horn, D; Hübner, C A; Korenke, G C; König, R; Kress, W; Krüger, G; Meinecke, P; Mücke, J; Plecko, B; Rossier, E; Schinzel, A; Schulze, A; Seemanova, E; Seidel, H; Spranger, S; Tuysuz, B; Uhrig, S; Wieczorek, D; Kutsche, K; Zenker, M (2008). Mutation and phenotypic spectrum in patients with cardio-facio-cutaneous and Costello syndrome. Clinical Genetics, 73(1):62-70.

Prenatal Diagnosis. Edited by: Schinzel, A (2008). United Kingdom: Wiley.

Fricker, T. Retrospektive Analyse von Patienten mit diagnostisch/therapeutischer Hodenbiopsie bei klinisch nicht obstruktiver Azoospermie einschliessend Analyse auf Y-Chromosom-Mikrodeletionen. 2008, University of Zurich, Faculty of Medicine.

Manvelyan, Marina; Riegel, Mariluce; Santos, Monica; Fuster, Carme; Pellestor, Franck; Mazaurik, Marie-Luise; Schulze, Bernt; Polityko, Anna; Tittelbach, Hanne; Reising-Ackermann, Gisela; Belitz, Britta; Hehr, Ute; Kelbova, Christina; Volleth, Marianne; Gödde, Elisabeth; Anderson, Jasen; Küpferling, Peter; Köhler, Sigrid; Duba, Hans-Christoph; Dufke, Andreas; Aktas, Dilek; Martin, Thomas; Schreyer, Isolde; Ewers, Elisabeth; Reich, Daniela; Mrasek, Kristin; Weise, Anja; Liehr, Thomas (2008). Thirty-two new cases with small supernumerary marker chromosomes detected in connection with fertility problems: detailed molecular cytogenetic characterization and review of the literature. International Journal of Molecular Medicine, 21(6):705-714.

Turkish journal of medical science. Edited by: Schinzel, A (2008). Ankara, Turkey: Türkiye Klinikleri Publishing House.

Luhmann, U F O; Neidhardt, J; Kloeckener-Gruissem, B; Schäfer, N F; Glaus, E; Feil, S; Berger, W (2008). Vascular changes in the cerebellum of Norrin /Ndph knockout mice correlate with high expression of Norrin and Frizzled-4. European Journal of Neuroscience, 27(10):2619-2628.

2007

De Gregori, M; Ciccone, R; Magini, P; Pramparo, T; Gimelli, S; Messa, J; Novara, F; Vetro, A; Rossi, E; Maraschio, P; Bonaglia, M C; Anichini, C; Ferrero, G B; Silengo, M; Fazzi, E; Zatterale, Adriana; Fischetto, R; Previdere, C; Belli, S; Turci, A; Calabrese, G; Bernardini, Federico; Meneghelli, E; Riegel, Mariluce; Rocchi, M; Guerneri, Silvana; Lalatta, F; Zelante, L; Romano, C; Fichera, M; et al; Schinzel, Albert (2007). Cryptic deletions are a common finding in "balanced" reciprocal and complex chromosome rearrangements: a study of 59 patients. Journal of Medical Genetics, 44(12):750-762.

Ceylaner, Gülay; Ceylaner, Serdar; Danişman, Nuri; Ergün, Ali; Ekici, Eyüp; Schinzel, Albert; Baumer Wolz, Alessandra (2007). Chromosomal heteromorphisms may help for the diagnosis of uniparental disomy (UPD): a case report. Prenatal Diagnosis, 27(11):1072-1074.

Neidhardt, J; Glaus, E; Barthelmes, D; Zeitz, C; Fleischhauer, J; Berger, W (2007). Identification and characterization of a novel RPGR isoform in human retina. Human Mutation, 28(8):797-807.

Mátyás, G; Alonso, S; Patrignani, A; Marti, M; Arnold, E; Magyar, I; Henggeler, C; Carrel, T; Steinmann, B; Berger, W (2007). Large genomic fibrillin-1 (FBN1) gene deletions provide evidence for true haploinsufficiency in Marfan syndrome. Human Genetics, 122(1):23-32.

Bartholdi, Deborah; Roelfsema, Jeroen H; Papadia, Francesco; Breuning, Martijn H; Niedrist, Dunja; Hennekam, Raoul C; Schinzel, Albert; Peters, Dorien J M (2007). Genetic heterogeneity in Rubinstein-Taybi syndrome: delineation of the phenotype of the first patients carrying mutations in EP300. Journal of Medical Genetics, 44(5):327-333.

Zeitz, C; Forster, U; Neidhardt, J; Feil, S; Kälin, S; Leifert, D; Flor, P J; Berger, W (2007). Night blindness-associated mutations in the ligand-binding, cysteine-rich, and intracellular domains of the metabotropic glutamate receptor 6 abolish protein trafficking. Human Mutation, 28(8):771-80.

Niedrist, Dunja (2007). Ohne X geht nix. Praxis, 96(12):463-464.

Rochat, Mascha K; Riegel, Mariluce; Schinzel, Albert (2007). Long-term follow-up of a 26-year-old male with duplication of 16p: clinical report and review. American Journal of Medical Genetics. Part A, 143(4):399-408.

Majava, Marja; Hoornaert, Kristien P; Bartholdi, Deborah; Bouma, Mieke C; Bouman, Katelijne; Carrera, Marta; Devriendt, Koenraad; Hurst, Jane; Kitsos, George; Niedrist, Dunja; Petersen, Michael B; Shears, Debbie; Stolte-Dijkstra, Irene; Van Hagen, J M; Ala-Kokko, Leena; Männikkö, Minna; Mortier, Geert R (2007). A report on 10 new patients with heterozygous mutations in the COL11A1 gene and a review of genotype-phenotype correlations in type XI collagenopathies. American Journal of Medical Genetics. Part A, 143A(3):258-264.

Baumer Wolz, Alessandra; Basaran, S; Taralczak, Malgorzata; Cefle, K; Öztürk, Selcen; Palanduz, S; Schinzel, Albert (2007). Initial maternal meiotic I error leading to the formation of a maternal i(2q) and a paternal i(2p) in a healthy male. Cytogenetic and Genome Research, 118(1):38-41.

Patzelt, Felix; Riegel, Markus; Ernst, Udo; Pawelzik, Klaus (2007). Self-organized critical noise amplification in human closed loop control. Frontiers in Computational Neuroscience, 1:4.

2006

Tyshchenko, Nataliya A; Riegel, Mariluce; Evseenkova, Elena G; Zerova, Tatjana E; Gorovenko, Nataliya G; Schinzel, Albert (2006). Duplication of (12)(pter-q13.3) combined with deletion of (22)(pter-q11.2) in a patient with features of both chromosome aberrations. European Journal of Medical Genetics, 50(2):128-32.

Kniestedt, Christoph; Taralczak, Malgorzata; Thiel, Michael A; Stuermer, Joerg; Baumer Wolz, Alessandra; Gloor, Balder P (2006). A novel PITX2 mutation and a polymorphism in a 5-generation family with Axenfeld-Rieger anomaly and coexisting Fuchs' endothelial dystrophy. Ophthalmology, 113(10):1791.e1-1797.e2.

Borozdin, Wiktor; Bravo Ferrer Acosta, Ana M; Bamshad, Michael J; Botzenhart, Elke M; Froster, Ursula G; Lemke, Johannes R; Schinzel, Albert; Spranger, Stephanie; McGaughran, Julie; Wand, Dorothea; Chrzanowska, Krystyna h; Kohlhase, Jürgen (2006). Expanding the spectrum of TBX5 mutations in Holt-Oram syndrome: detection of two intragenic deletions by quantitative real time PCR, and report of eight novel point mutations. Human Mutation, 27(9):975-976.

Koolen, David A; Vissers, Lisenka E L M; Pfundt, Rolph; de Leeuw, Nicole; Knight, Samantha J L; Regan, Regina; Kooy, R Frank; Reyniers, Edwin; Romano, Corrado; Fichera, Marco; Schinzel, Albert; Baumer Wolz, Alessandra; Anderlid, Britt-Marie; Schoumans, Jacqueline; Knoers, Nine V; van Kessel, Ad Geurts; Sistermans, Erik A; Veltman, Joris A; Brunner, Han G; de Vries, Bert B A (2006). A new chromosome 17q21.31 microdeletion syndrome associated with a common inversion polymorphism. Nature Genetics, 38(9):999-1001.

Utermann, Barbara; Riegel, Mariluce; Leistritz, Dru; Karall, Thomas; Wisser, Josef; Meisner, Lorraine; Fauth, Christine; Baldinger, Rosa; Johnson, Julie; Erdel, Martin; Taralczak, Malgorzata; Pauli, Richard M; Baumer Wolz, Alessandra; Schinzel, Albert; Kotzot, Dieter (2006). Pre- and postnatal findings in trisomy 17 mosaicism. American Journal of Medical Genetics. Part A, 140(15):1628-1636.

Feenstra, Ilse; Fang, J; Koolen, David A; Siezen, A; Evans, C; Winter, Robin M; Lees, Melissa M; Riegel, Mariluce; de Vries, Bert B A; van Ravenswaaij, Conny M A; Schinzel, Albert (2006). European Cytogeneticists Association Register of Unbalanced Chromosome Aberrations (ECARUCA); an online database for rare chromosome abnormalities. European Journal of Medical Genetics, 49(4):279-291.

Niedrist, Dunja; Riegel, M; Achermann, J; Schinzel, Albert (2006). Survival with trisomy 18--data from Switzerland. American Journal of Medical Genetics. Part A, 140(9):952-959.

Gaspar, Harald; Michel-Calemard, Laurence; Morel, Yves; Wisser, Josef; Stallmach, Thomas; Schinzel, Albert (2006). Prenatal diagnosis of autosomal recessive polycystic kidney disease (ARPKD) without DNA from an index patient in a current pregnancy. Prenatal Diagnosis, 26(4):392-393.

Meier, Christophe A; Brändle, Michael; Clerici, Thomas; Gomez, Fulgencio; Komminoth, Paul; Portmann, Luc; Mullis, Primus-Eugen; Pralong, Francois P; Schmid, Christoph; Zumsteg, Urs W; Fokstuen, Siv; Antonarakis, Stylianos E; Blouin, Jean-Louis; Braga, Suzanne; Miny, Peter; Schinzel, Albert; Schorderet, Daniel F (2006). Empfehlungen zur Durchführung von Gentests bei Patienten mit multipler endokriner Neoplasie (MEN). Swiss Medical Forum, 6(12):299-303.

Williams, Charles A; Beaudet, Arthur L; Clayton-Smith, Jill; Knoll, Joan H; Kyllerman, Martin; Laan, Laura A; Magenis, R Ellen; Moncla, Ann; Schinzel, Albert; Summers, Jane A; Wagstaff, Joseph (2006). Angelman syndrome 2005: updated consensus for diagnostic criteria. American Journal of Medical Genetics. Part A, 140(5):413-418.

Riegel, Mariluce; Wisser, Josef; Baumer Wolz, Alessandra; Schinzel, Albert (2006). Postzygotic isochromosome formation as a cause for false-negative results from chorionic villus chromosome examinations. Prenatal Diagnosis, 26(3):221-225.

Lecce, Rosetta; Murdolo, Marina; Gelli, Gianfranco; Steindl, Katharina; Coppola, Livia; Romano, Anna; Cupelli, Elisa; Neri, Giovanni; Zollino, Marcella (2006). The euchromatic 9p+ polymorphism is a locus-specific amplification caused by repeated copies of a small DNA segment mapping within 9p12. Human Genetics, 118(6):760-766.

Baumgartner, C; Mátyás, G; Steinmann, B; Eberle, M; Stein, J I; Baumgartner, D (2006). A bioinformatics framework for genotype-phenotype correlation in humans with Marfan syndrome caused by FBN1 gene mutations. Journal of Biomedical Informatics, 39(2):171-183.

Bartholdi, D; Klein, A; Weissert, M; Koenig, N; Baumer, A; Boltshauser, E; Schinzel, A; Berger, W; Mátyás, G (2006). Clinical profiles of four patients with Rett syndrome carrying a novel exon 1 mutation or genomic rearrangement in the MECP2 gene. Clinical Genetics, 69(4):319-326.

Neidhardt, J; Barthelmes, D; Farahmand, F; Fleischhauer, J C; Berger, W (2006). Different amino acid substitutions at the same position in rhodopsin lead to distinct phenotypes. Investigative Ophthalmology and Visual Science, 47(4):1630-1635.

Matyas, G; Arnold, E; Carrel, T; Baumgartner, D; Boileau, C; Berger, W; Steinmann, B (2006). Identification and in silico analyses of novel TGFBR1 and TGFBR2 mutations in Marfan syndrome-related disorders. Human Mutation, 27(8):760-769.

Wycisk, K A; Zeitz, C; Feil, S; Wittmer, M; Forster, U; Neidhardt, J; Wissinger, B; Zrenner, E; Wilke, R; Kohl, S; Berger, W (2006). Mutation in the auxiliary calcium-channel subunit CACNA2D4 causes autosomal recessive cone dystrophy. American Journal of Human Genetics, 79(5):973-977.

Zeitz, C; et al; Berger, W (2006). Mutations in CABP4, the gene encoding the Ca2+-binding protein 4, cause autosomal recessive night blindness. American Journal of Human Genetics, 79(4):657-667.

Santos, Regie Lyn P; Häfner, Franziska M; Huygen, Patrick L M; Linder, Thomas E; Schinzel, Albert; Spillmann, Thomas; Leal, Suzanne M (2006). Phenotypic characterization of DFNA24: prelingual progressive sensorineural hearing impairment. Audiology and Neurotology, 11(5):269-275.

Wycisk, K A; Budde, B; Feil, S; et al; Buzzi, F; Neidhardt, J; Glaus, E; Nürnberg, P; Berger, W (2006). Structural and functional abnormalities of retinal ribbon synapses due to Cacna2d4 mutation. Investigative Ophthalmology and Visual Science, 47(8):3523-3530.

Niedrist, D; Riegel, M; Achermann, J; Rousson, V; Schinzel, A (2006). Trisomy 18: changes in sex ratio during intrauterine life. American Journal of Medical Genetics. Part A, 140(21):2365-2367.

2005

Zeitz, Christina; van Genderen, Maria; Neidhardt, John; Luhmann, Ulrich F O; Hoeben, Frank; Forster, Ursula; Wycisk, Katharina Agnes; Matyas, Gabor; Hoyng, Carel B; Riemslag, Frans; Meire, Francoise; Cremers, Frans P M; Berger, Wolfgang (2005). Mutations in GRM6 Cause Autosomal Recessive Congenital Stationary Night Blindness with a Distinctive Scotopic 15-Hz Flicker Electroretinogram. Investigative Ophthalmology & Visual Science, 46(11):4328-4335.

Luhmann, Ulrich F O; Lin, Jihong; Acar, Niyazi; Lammel, Stefanie; Feil, Silke; Grimm, Christian; Seeliger, Mathias W; Hammes, Hans-Peter; Berger, Wolfgang (2005). Role of the Norrie Disease Pseudoglioma Gene in Sprouting Angiogenesis during Development of the Retinal Vasculature. Investigative Ophthalmology & Visual Science, 46(9):3372-3382.

Luhmann, Ulrich F O; Meunier, Dominique; Shi, Wei; Lüttges, Angela; Pfarrer, Christiane; Fundele, Reinald; Berger, Wolfgang (2005). Fetal loss in homozygous mutant Norrie disease mice: A new role of Norrin in reproduction. Genesis, 42(4):253-262.

Vermeesch, Joris Robert; Melotte, Cindy; Salden, Ivo; Riegel, Mariluce; Trifnov, Vladimir; Polityko, Anna; Rumyantseva, Natalia; Naumchik, Irina; Starke, Heike; Matthijs, Gert; Schinzel, Albert; Fryns, Jean-Pierre; Liehr, Thomas (2005). Tetrasomy 12pter-12p13.31 in a girl with partial Pallister-Killian syndrome phenotype. European Journal of Medical Genetics, 48(3):319-327.

Schinzel, Albert (2005). Chromosome Aberrations. In: Panteliadis, Christos P; Korinthenberg, Rudolf. Paediatric Neurology : Theory and Practice. Stuttgart, New York: Georg Thieme Verlag, 235-251.

Riegel, Mariluce; Baumer Wolz, Alessandra; Süss, Jochen; Schinzel, Albert (2005). An unusual reciprocal translocation detected by subtelomeric FISH: interstitial and not terminal. American Journal of Medical Genetics. Part A, 135(1):86-90.

Descipio, Cheryl; Schneider, Lori; Young, Terri L; et al; Schinzel, Albert A G L (2005). Subtelomeric deletions of chromosome 6p: molecular and cytogenetic characterization of three new cases with phenotypic overlap with Ritscher-Schinzel (3C) syndrome. American Journal of Medical Genetics. Part A, 134A(1):3-11.

Riegel, Mariluce; Hargreaves, P; Baumer Wolz, Alessandra; Guc-Scekic, M; Ignjatovic, M; Schinzel, Albert (2005). Unbalanced 18q/21q translocation in a patient previously reported as monosomy 21. European Journal of Medical Genetics, 48(2):167-174.

Roelfsema, Jeroen H; White, Stefan J; Ariyürek, Yavuz; Bartholdi, Deborah; Niedrist, Dunja; Papadia, Francesco; Bacino, Carlos A; den Dunnen, Johan T; van Ommen, Gert-Jan B; Breuning, Martijn H; Hennekam, Raoul C; Peters, Dorien J M (2005). Genetic heterogeneity in Rubinstein-Taybi syndrome: mutations in both the CBP and EP300 genes cause disease. American Journal of Human Genetics, 76(4):572-80.

Zeitz, Christina; Minotti, Roberta; Feil, Silke; Matyas, Gabor; Cremers, Frans P M; Hoyng, Carel B; Berger, Wolfgang (2005). Novel mutations in CACNA1F and NYX in Dutch families with X-linked congenital stationary night blindness. Molecular Vision, 11:179-183.

So, Joyce; Suckow, Vanessa; Kijas, Zofia; et al; Schinzel, Albert (2005). Mild phenotypes in a series of patients with Opitz GBBB syndrome with MID1 mutations. American Journal of Medical Genetics. Part A, 132A(1):1-7.

Manguoğlu, E; Berker-Karaüzüm, S; Baumer Wolz, Alessandra; Mihci, Ercan; Taçoy, S; Lüleci, Güven; Schinzel, Albert (2005). A case with de novo interstitial deletion of chromosome 7q21.1-q22. Genetic Counseling, 16(2):155-9.

Cetin, Z; Berker Karaüzüm, S; Yakut, S; Mihci, Ercan; Baumer Wolz, Alessandra; Wey, E; Taçoy, S; Bagci, Gulseren; Lüleci, Güven (2005). M-FISH applications in clinical genetics. Genetic Counseling, 16(3):257-68.

2004

Wey, Eva; Bartholdi, Deborah; Riegel, Mariluce; Nazlican, Hülya; Horsthemke, Bernhard; Schinzel, Albert; Baumer Wolz, Alessandra (2004). Mosaic imprinting defect in a patient with an almost typical expression of the Prader-Willi syndrome. European Journal of Human Genetics, 13(3):273-277.

Zankl, Andreas (2004). Computer-aided anthropometry in the evaluation of dysmorphic children. Pediatrics, 114(3):e333-e336.

Hernandez, Rafael E; Rikhof, Holly A; Bachmann-Gagescu, Ruxandra; Moens, Cecilia B (2004). vhnf1 integrates global RA patterning and local FGF signals to direct posterior hindbrain development in zebrafish. Development, 131(18):4511-4520.

Hennies, Hans Christian; Rauch, Anita; Seifert, Wenke; Schumi, Christian; Moser, Elisabeth; Al-Taji, Eva; Tariverdian, Gholamali; Chrzanowska, Krystyna h; Krajewska-Walasek, Malgorzata; Rajab, Anna; Giugliani, Roberto; Neumann, Thomas e; Eckl, Katja m; Karbasiyan, Mohsen; Reis, André; Horn, Denise (2004). Allelic heterogeneity in the COH1 gene explains clinical variability in Cohen syndrome. American Journal of Human Genetics, 75(1):138-145.

Zankl, Andreas; Brooks, Daniela; Boltshauser, Eugen; Largo, Remo; Schinzel, Albert (2004). Natural history of twin disruption sequence. American Journal of Medical Genetics. Part A, 127A(2):133-138.

Baumer Wolz, Alessandra; Riegel, Mariluce; Schinzel, Albert (2004). Non-random asynchronous replication at 22q11.2 favours unequal meiotic crossovers leading to the human 22q11.2 deletion. Journal of Medical Genetics, 41(6):413-420.

Zankl, Andreas; Scheffer, H; Schinzel, Albert (2004). Ectodermal dysplasia with tetramelic deficiencies and no mutation in p63: odontotrichomelic syndrome or a new entity? American Journal of Medical Genetics. Part A, 127A(1):74-80.

Hübner, Christian A; Utermann, Barbara; Tinschert, Sigrid; Krüger, Gabriele; Ressler, Bernadette; Steglich, Cordula; Schinzel, Albert; Galli, Andreas (2004). Intronic mutations in the L1CAM gene may cause X-linked hydrocephalus by aberrant splicing. Human Mutation, 23(5):526.

Zenker, Martin; Rauch, Anita; Winterpacht, Andreas; Tagariello, Andreas; Kraus, Cornelia; Rupprecht, Thomas; Sticht, Heinrich; Reis, André (2004). A dual phenotype of periventricular nodular heterotopia and frontometaphyseal dysplasia in one patient caused by a single FLNA mutation leading to two functionally different aberrant transcripts. American Journal of Human Genetics, 74(4):731-737.

Nazarenko, Sergey; Sazhenova, Elena; Baumer Wolz, Alessandra; Schinzel, Albert (2004). Segmental maternal heterodisomy of the proximal part of chromosome 15 in an infant with Prader-Willi syndrome. European Journal of Human Genetics, 12(5):411-414.

Zenker, Martin; Buheitel, Gernot; Rauch, Ralf; Koenig, Rainer; Bosse, Kirstin; Kress, Wolfram; Tietze, Hans-Ulrich; Doerr, Helmuth-Guenther; Hofbeck, Michael; Singer, Helmut; Reis, André; Rauch, Anita (2004). Genotype-phenotype correlations in Noonan syndrome. Journal of Pediatrics, 144(3):368-74.

Bähring, Sylvia; Rauch, Anita; Toka, Okan; Schroeder, Christoph; Hesse, Christiane; Siedler, Heike; Fesüs, Gabor; Haefeli, Walter e; Busjahn, Andreas; Aydin, Atakan; Neuenfeld, Yvette; Mühl, Astrid; Toka, Hakan R; Gollasch, Maik; Jordan, Jens; Luft, Friedrich C (2004). Autosomal-dominant hypertension with type E brachydactyly is caused by rearrangement on the short arm of chromosome 12. Hypertension, 43(2):471-476.

Rauch, Anita; Hofbeck, Michael; Cesnjevar, Robert; Koch, Andreas; Rauch, Ralf; Buheitel, Gernot; Singer, Helmut; Weyand, Michael (2004). Search for somatic 22q11.2 deletions in patients with conotruncal heart defects. American Journal of Medical Genetics. Part A, 124A(2):165-169.

Horn, Denise; Weschke, Bernhard; Zweier, Christiane; Rauch, Anita (2004). Facial phenotype allows diagnosis of Mowat-Wilson syndrome in the absence of Hirschsprung disease. American Journal of Medical Genetics. Part A, 124A(1):102-104.

Khan, Nadia; Schinzel, Albert; Shuknecht, Bernhard; Baumann, Fabian; Østergaard, John R; Yonekawa, Yasuhiro (2004). Moyamoya angiopathy with dolichoectatic internal carotid arteries, patent ductus arteriosus and pupillary dysfunction: a new genetic syndrome? European Neurology, 51(2):72-77.

2003

Horsthemke, Bernhard; Lich, Christina; Buiting, Karin; Achmann, Roland; Aulehla-Scholz, Christa; Baumer Wolz, Alessandra; Bürger, Joachim; Dworniczak, Bernd; Gläser, Dieter; Holinski-Feder, Elke; Janssen, Bart; Kleinle, Stephanie; Kochhan, Lothar; Krasemann, Ernst; Kraus, Cornelia; Kroisel, Peter; Plendl, Hansjörg; Purmann, Sabine; Sander, Gabriele; Skladny, Heyko; Spitzer, Eva; Thamm-Mücke, Barbara; Varon-Mateeva, Raymonda; Weinhäusel, Andreas; Weirich, Helga (2003). Problems in detecting mosaic DNA methylation in Angelman syndrome. European Journal of Human Genetics, 11(12):913-915.

Zeitz, Christina; Scherthan, Harry; Freier, Susanne; Feil, Silke; Suckow, Vanessa; Schweiger, Susann; Berger, Wolfgang (2003). NYX (nyctalopin on chromosome X), the gene mutated in congenital stationary night blindness, encodes a cell surface protein. Investigative Ophthalmology & Visual Science [IOVS], 44(10):4184-4191.

Riegel, Mariluce; Baumer Wolz, Alessandra; Schinzel, Albert (2003). No evidence of submicroscopic deletion or segmental uniparental disomy within the candidate regions 7p11.2-p13 and 7q31-qter in a series of non-uniparental disomy Silver–Russell syndrome cases. Clinical Genetics, 64(3):252-254.

Zankl, Andreas; Molinari, Luciano (2003). ABase-a tool for the rapid assessment of anthropometric measurements on handheld computers. American Journal of Medical Genetics. Part A, 121A(2):146-150.

Rauch, Anita; Beese, Maike; Mayatepek, Ertan; Dörr, Helmut-Günther; Wenzel, Dieter; Reis, André; Trautmann, Udo (2003). A novel 5q35.3 subtelomeric deletion syndrome. American Journal of Medical Genetics. Part A, 121A(1):1-8.

Weigell-Weber, Maike; Sarra, Gian-Marco; Kotzot, Dieter; Sandkuijl, Lodewijk; Messmer, Elmar; Hergersberg, Martin (2003). Genomewide homozygosity mapping and molecular analysis of a candidate gene located on 22q13 (fibulin-1) in a previously undescribed vitreoretinal dystrophy. Archives of Ophthalmology, 121(8):1184-8.

Piram, Adriana; Ortolan, Daniela; Peres, Luis Cesar; Pina-Neto, João Monteiro; Riegel, Mariluce; Schinzel, Albert (2003). Newborn with malformations and a combined duplication of 9pter-q22 and 16q22-qter resulting from unbalanced segregation of a complex maternal translocation. American Journal of Medical Genetics. Part A, 120A(2):247-252.

de Vries, B B A; Winter, R; Schinzel, Albert; van Ravenswaaij, Conny M A (2003). Telomeres: a diagnosis at the end of the chromosomes. Journal of Medical Genetics, 40(6):385-398.

Zankl, Andreas; Rampa, Antonio; Schinzel, Albert (2003). Brachmann-de Lange syndrome (BDLS) with asymmetry and skin pigmentary anomalies: a result of mosaicism for a putative bdls gene mutation? American Journal of Medical Genetics. Part A, 118A(4):358-361.

Gimelli, Giorgio; Pujana, Miguel Angel; Patricelli, Maria Grazia; Russo, Silvia; Giardino, Daniela; Larizza, Lidia; Cheung, Joseph; Armengol, Lluís; Schinzel, Albert; Estivill, Xavier; Zuffardi, Orsetta (2003). Genomic inversions of human chromosome 15q11-q13 in mothers of Angelman syndrome patients with class II (BP2/3) deletions. Human Molecular Genetics, 12(8):849-858.

Zankl, Andreas; Güngör, Tayfun; Schinzel, Albert (2003). Cranio-cerebello-cardiac (3C) syndrome: Follow-up study of the original patient. American Journal of Medical Genetics. Part A, 118A(1):55-59.

Baumer Wolz, Alessandra; Dres, D; Basaran, S; Isçi, H; Dehgan, T; Schinzel, Albert (2003). Parental origin of the two additional haploid sets of chromosomes in an embryo with tetraploidy. Cytogenetic and Genome Research, 101(1):5-7.

2002

Koch, Andreas; Buheitel, Gernot; Hofbeck, Michael; Rauch, Anita; Kraus, Cornelia; Tassabehji, Mayada; Singer, Helmut (2002). Spectrum of arterial obstructions caused by one elastin gene point mutation. European Journal of Pediatrics, 162(1):53-54.

Baumer Wolz, Alessandra; Giovannucci Uzielli, M L; Guarducci, S; Lapi, Elisabetta; Röthlisberger, B; Schinzel, Albert (2002). Meiotic origin of two ring chromosomes 18 in a girl with developmental delay. American Journal of Medical Genetics, 113(1):101-104.

Thiel, Christian T; Kraus, Cornelia; Rauch, Anita; Ekici, Arif B; Rautenstrauss, Bernd; Reis, André (2002). A new quantitative PCR multiplex assay for rapid analysis of chromosome 17p11.2-12 duplications and deletions leading to HMSN/HNPP. European Journal of Human Genetics, 11(2):170-178.

Matin, Maryam M; Baumer Wolz, Alessandra; Hornby, David P (2002). An analytical method for the detection of methylation differences at specific chromosomal loci using primer extension and ion pair reverse phase HPLC. Human Mutation, 20(4):305-311.

Binkert, Franz (2002). Werner Schmid 1930-2002. American Journal of Medical Genetics, 112(2):231-232.

Zankl, Andreas; Eberle, Lukas; Molinari, Luciano; Schinzel, Albert (2002). Growth charts for nose length, nasal protrusion, and philtrum length from birth to 97 years. American Journal of Medical Genetics, 111(4):388-391.

Mutter, Michael; Binkert, Franz; Schinzel, Albert (2002). Down syndrome livebirth rate in the eastern part of Switzerland between 1980 and 1996 stays constant in spite of growing numbers of prenatally diagnosed and subsequently terminated cases. Prenatal Diagnosis, 22(9):835-836.

Binkert, Franz; Mutter, Michael; Schinzel, Albert (2002). Impact of prenatal diagnosis on the prevalence of live births with Down syndrome in the eastern half of Switzerland 1980-1996. Swiss Medical Weekly, 132(33-34):478-484.

Binkert, Franz; Mutter, Michael; Schinzel, Albert (2002). Impact of prenatal diganosis on the prevalence of live births with Down sysndrome in the eastern half of Switzerland 1980-1996. Swiss Medical Weekly, 132(3334):478-484.

Riegel, Mariluce; Schinzel, Albert (2002). Duplication of (2)(q11.1-q13.2) in a boy with mental retardation and cleft lip and palate: another clefting gene locus on proximal 2q? American Journal of Medical Genetics, 111(1):76-80.

Wutz, Krisztina; Sauer, Christian; Zrenner, Eberhart; Lorenz, Birgit; Alitalo, Tiina; Broghammer, Martina; Hergersberg, Martin; de la Chapelle, Albert; Weber, Bernhard H F; Wissinger, Bernd; Meindl, Alfons; Pusch, Carsten M (2002). Thirty distinct CACNA1F mutations in 33 families with incomplete type of XLCSNB and Cacna1f expression profiling in mouse retina. European Journal of Human Genetics, 10(8):449-456.

Baumer Wolz, Alessandra (2002). Analysis of the methylation status of imprinted genes based on methylation-specific polymerase chain reaction combined with denaturing high-performance liquid chromatography. Methods, 27(2):139-43.

Schlegel, Monika; Baumer Wolz, Alessandra; Riegel, Mariluce; Wiedemann, Ute; Schinzel, Albert (2002). Maternal uniparental isodisomy 10 and mosaicism for an additional marker chromosome derived from the paternal chromosome 10 in a fetus. Prenatal Diagnosis, 22(5):418-21.

Zweier, Christiane; Albrecht, Beate; Mitulla, Beate; Behrens, Rolf; Beese, Maike; Gillessen-Kaesbach, Gabriele; Rott, Hans-Dieter; Rauch, Anita (2002). "Mowat-Wilson" syndrome with and without Hirschsprung disease is a distinct, recognizable multiple congenital anomalies-mental retardation syndrome caused by mutations in the zinc finger homeo box 1B gene. American Journal of Medical Genetics, 108(3):177-181.

Czakó, Márta; Riegel, Mariluce; Morava, Eva; Schinzel, Albert; Kosztolányi, György (2002). Patient with rheumatoid arthritis and MCA/MR syndrome due to unbalanced der(18) transmission of a paternal translocation t(18;20)(p11.1;p11.1). American Journal of Medical Genetics, 108(3):226-228.

Schmid, Werner (2002). BSE und die variante Creutzfeldt-Jakob-Krankheit (vCJD). Swiss Medical Forum, 2(10):217-218.

Koch, Andreas; Hofbeck, Michael; Buheitel, Gernot; Dörr, Helmuth-Günther; Rauch, Anita; Rauch, Ralf; Singer, Helmut (2002). Hypoparathyroidism in conotruncal heart defects. European Journal of Pediatrics, 161(4):208-211.

Rauch, Ralf; Rauch, Anita; Koch, Andreas; Kumpf, Matthias; Dufke, Andreas; Singer, Helmut; Hofbeck, Michael (2002). Cervical origin of the subclavian artery as a specific marker for monosomy 22q11. American Journal of Cardiology, 89(4):481-484.

Schinzel, Albert (2002). Chromosome Deletions and Duplications. In: Kazazian, Haig H; et al. Wiley Encyclopedia of Molecular Medicine. New York: Wiley, 830-832.

Schinzel, Albert (2002). Isochromosomes. In: Kazazian, Haig H; et al. Wiley Encyclopedia of Molecular Medicine. New York: Wiley, 1832-1834.

Liebelt, Jan (2002). Book Review : Catalogue of Unbalanced Chromosome Aberrations in Man, 2nd edition. Chromosome Research, 10(10):87-88.

2001

Robinson, Wendy P; Christian, Susan L; Kuchinka, Brian D; Peñaherrera, Maria S; Das, Soma; Schuffenhauer, Simone; Malcolm, Susan; Schinzel, Albert A; Hassold, Terry J; Ledbetter, David H (2001). Somatic segregation errors predominantly contribute to the gain or loss of a paternal chromosome leading to uniparental disomy for chromosome 15. Clinical Genetics, 57(5):349-358.

Schmidt, Heinrich; Rudolph, Günther; Hergersberg, Martin; Schneider, K; Moradi, Saber; Meitinger, T (2001). Retinal detachment and cataract, facial dysmorphism, generalized osteoporosis, immobile spine and platyspondyly in a consanguinous kindred - a possible new syndrome. Clinical Genetics, 59(2):99-105.

Kotzot, Dieter; Röthlisberger, Benno; Riegel, Mariluce; Schinzel, Albert (2001). Maternal uniparental isodisomy 11q13right-arrowqter in a dysmorphic and mentally retarded female with partial trisomy mosaicism 11q13right-arrowqter. Journal of Medical Genetics, 38(12):876-881.

Röthlisberger, Benno; Zerova, Tanja E; Kotzot, Dieter; Buzhievskaya, Tamara I; Balmer, Damina; Schinzel, Albert (2001). Supernumerary marker chromosome (1) of paternal origin and maternal uniparental disomy 1 in a developmentally delayed child. Journal of Medical Genetics, 38(12):885-888.

Dorn, Thomas; Riegel, Mariluce; Schinzel, Albert; Siegel, Adrian M; Krämer, G (2001). Epilepsy and trisomy 19q—different seizure patterns in a brother and a sister. Epilepsy research, 47(1-2):119-126.

Riegel, Mariluce; Baumer, Alessandra; Jamar, Mauricette; Delbecque, Kathy; Herens, Christian; Verloes, Alain; Schinzel, Albert (2001). Submicroscopic terminal deletions and duplications in retarded patients with unclassified malformation syndromes. Human Genetics, 109(3):286-294.

Riegel, Mariluce; Morava, Eva; Czakó, Márta; Kosztolányi, Gyórgy; Schinzel, Albert (2001). Distal deletion, del(2)(q33.3q33.3), in a patient with severe growth deficiency and minor anomalies. American Journal of Medical Genetics, 102(3):227-230.

Courtens, W; Vroman, S; Vandenhove, J; Wiedemann, Ute; Schinzel, Albert (2001). Pre- and perinatal findings in partial trisomy 7q resulting from balanced parental translocations t(7;21) and t(4;7). Prenatal Diagnosis, 21(8):642-648.

Baumer Wolz, Alessandra; Wiedemann, Ute; Hergersberg, Martin; Schinzel, Albert (2001). A novel MSP/DHPLC method for the investigation of the methylation status of imprinted genes enables the molecular detection of low cell mosaicisms. Human Mutation, 17(5):423-430.

Gurrieri, F; Steindl, K; Giglio, S; Neri, G (2001). New syndrome of mental retardation, Robin sequence, and brachydactyly. American Journal of Medical Genetics. Part A, 100(1):49-51.

Jung, Hans H; Hergersberg, Martin; Kneifel, Stefan; Alkadhi, Hatem; Schiess, Regula; Weigell-Weber, Maike; Daniels, Geoff; Kollias, Spyros; Hess, Klaus (2001). Mcleod syndrome: A novel mutation, predominant psychiatric manifestations, and distinct striatal imaging findings. Annals of Neurology, 49(3):384-392.

Schinzel, Albert (2001). Catalogue of Unbalanced Chromosome Aberrations in Man (Second Revised and Expanded Edition). Berlin, New York: De Gruyter.

Martinez, Maria-Jose; Binkert, Franz; Schinzel, Albert; Kotzot, Dieter (2001). No evidence of dup(7)(p11.2p13) in Silver-Russell syndrome. American Journal of Medical Genetics, 99(4):335-337.

Weymann, Sibylla; Yonekawa, Yasuhiro; Khan, Nadia; Martin, Ernst; Heppner, Frank L; Schinzel, Albert; Kotzot, Dieter (2001). Severe arterial occlusive disorder and brachysyndactyly in a boy: A further case of Grange syndrome? American Journal of Medical Genetics, 99(3):190-195.

Wirth, Jutta; Back, Elke; Hüttenhofer, Alexander; Nothwang, Hans-Gerd; Lich, Christina; Gross, Stephanie; Menzel, Corinna; Schinzel, Albert; Kioschis, Petra; Tommerup, Niels; Ropers, Hans-Hilger; Horsthemke, Bernhard; Buiting, Karin (2001). A translocation breakpoint cluster disrupts the newly defined 3' end of the SNURF-SNRPN transcription unit on chromosome 15. Human Molecular Genetics, 10(3):201-210.

Bruder, C E G; Hirvelä, Carina; Segraves, Richard; Wallace, Andrew J; Boltshauser, Eugene; Jordanova, Albena; Sainio, Markku; Harder, Henrik; Blennow, Elisabeth; Tapia-Paez, Isabel; Hamilton, Greg; Baser, Michael E; Papi, Laura; Rask-Andersen, Helge; Hung, Gene; Heiberg, Arvid; Albertson, Donna G; Fransson, Ingegerd; Zhang, Xiao Xiao; Zucman-Rossi6, Jessica; Rouleau, Guy A; Kluwe, Lan; Mathiesen, Tiit; Honda, Mariko; Pinkel, Daniel; Dumanski, Jan P; Evans, D Gareth; Hergersberg, Martin; Poptodorov, George; et al (2001). High resolution deletion analysis of constitutional DNA from neurofibromatosis type 2 (NF2) patients using microarray-CGH. Human Molecular Genetics, 10(3):271-282.

Mikselaar, Ruth V; Varb, Kadi; Süvari, Anneli; Schinzel, Albert (2001). Mosaic terminal del(19)(q13.33:) in a girl with seizures and mental retardation. Journal of Medical Genetics, 38(1):e2.

Fokstuen, Siv; Vrticka, Karel; Riegel, Mariluce; Da Silva, Vinzent; Baumer, Alessandra; Schinzel, Albert (2001). Velofacial hypoplasia (Sedlackova syndrome): a variant of velocardiofacial (Shprintzen) syndrome and part of the phenotypical spectrum of del 22q11.2. European Journal of Pediatrics, 160(1):54-57.

Schinzel, Albert; Niedrist, Dunja (2001). Chromosome imbalances associated with epilepsy. American Journal of Medical Genetics, 106(2):119-124.

Riegel, Mariluce; Baumer, Alessandra; Piram, Adriana; Ortolan, Daniela; Peres, L C; Pina-Neto, J M (2001). De novo unbalanced t(11q;21q) leading to a partial monosomy 21pter-q22.2 and 11q24-qter in a patient initially diagnosed as monosomy 21. Genetic Counseling, 12(1):69-75.

2000

Baumer, Alessandra; Balmer, Damina; Binkert, Franz; Schinzel, Albert (2000). Parental origin and mechanisms of formation of triploidy: a study of 25 cases. European Journal of Human Genetics, 8(12):911-917.

Ginsburg, Claudia; Fokstuen, Siv; Schinzel, Albert (2000). The contribution of uniparental disomy to congenital development defects in children born to mothers at advanced childbearing age. American Journal of Medical Genetics, 95(5):454-460.

Brecevic, Lukrecija; Basaran, Seher; Dutly, Fabrizio; Röthlisberger, Benno; Schinzel, Albert (2000). Tandem triplication of chromosome 13q14 with inverted interstitial segment in a 4 year old girl. Journal of Medical Genetics, 37(12):964-967.

Schwartz, C E; Gillessen-Kaesbach, G; May, M; Cappa, M; Gorski, J; Steindl, Katharina; Neri, G (2000). Two novel mutations confirm FGD1 is responsible for the Aarskog syndrome. European Journal of Human Genetics, 8(11):869-874.

Achermann, S; Addor, Marie-Claude; Schinzel, Albert (2000). Der Anteil pränatal erfasster Fälle von ausgewählten Fehlbildungen in der EUROCAT-Studie. Ergebnisse im Kanton Zürich von 1988 bis 1997. Swiss Medical Weekly, 130(38):1326-1331.

Kotzot, Dieter; Lurie, Iosif W; Méhes, Károly; Werder, Edmond; Schinzel, Albert (2000). No evidence of uniparental disomy 2, 6, 14, 16, 20, and 22 as a major cause of intrauterine growth retardation. Clinical Genetics, 58(3):177-180.

Kotzot, Dieter; Schinzel, Albert (2000). Paternal meiotic origin of der(21;21)(q10;q10) mosaicism [46,XX/46,XX,der(21;21)(q10;q10),+21] in a girl with mild Down syndrome. European Journal of Human Genetics, 8(9):709-712.

Fokstuen, S; Balakrishnan, J; Kotzot, Dieter; Hergersberger, M; Hobi, C (2000). Homozygosity of the cystic fibrosis (CF) gene allele IVS8-(5T) in a Tamil male with congenital bilateral absence of the vas deferens (CBAVD). Molecular Human Reproduction, 6(7):669-670.

Fokstuen, Siv; Schinzel, Albert (2000). Unilateral lobar pulmonary agenesis in sibs. Journal of Medical Genetics, 37(7):557-559.

Blau, Nenad; Scherer-Oppliger, Tanja; Baumer, Alessandra; Riegel, Mariluce; Matasovic, Ana; Schinzel, Albert; Jaeken, Jaak; Thöny, Beat (2000). Isolated central form of tetrahydrobiopterin deficiency associated with hemizygosity on chromosome 11q and a mutant allele of PTPS. Human Mutation, 16(1):54-60.

Baumer Wolz, Alessandra; Belli, Serena; Trüeb, Ralph M; Schinzel, Albert (2000). An autosomal dominant form of hereditary hypotrichosis simplex maps to 18p11.32–p11.23 in an Italian family. European Journal of Human Genetics, 8(6):443-448.

Weigell-Weber, Maike; Schinzel, Albert; Hergersberg, Martin (2000). Angeborene Innenohrschwerhörigkeit durch Mutationen im Connexin-26-Gen. Swiss Medical Weekly, 130:1072-1077.

Salam, Ambar A; Häfner, Franziska M; Linder, Thomas E; Spillmann, Thomas; Schinzel, Albert; Leal, Suzanne M (2000). A novel locus (DFNA23) for prelingual autosomal dominant nonsyndromic hearing loss maps to 14q21-q22 in a Swiss German kindred. American Journal of Human Genetics, 66(6):1984-1988.

Malich, Siegrun; Largo, Remo H; Schinzel, Albert; Molinari, Luciano; Eiholzer, Urs (2000). Phenotypic heterogeneity of growth and psychometric intelligence in Prader-Willi syndrome: Variable expression of a contiguous gene syndrome or parent-child resemblance? American Journal of Medical Genetics, 91(4):298-304.

Stassen, H H; Bridler, R; Hägele, S; Hergersberg, M; Mehmann, B; Schinzel, Albert; Weisbrod, M; Scharfetter, C (2000). Schizophrenia and smoking: Evidence for a common neurobiological basis? American Journal of Medical Genetics, 96(2):173-177.

Hergersberg, Martin; Weigell-Weber, Maike (2000). Erbliche Schwerhörigkeit: neue Möglichkeiten der Diagnostik. Swiss Medical Weekly, 130:485-489.

Faber, Jörg; Winterpacht, Andreas; Zabel, B; Gnoinski, W; Schinzel, Albert; Steinmann, Beat; Superti-Furga, Andrea (2000). Clinical variability of Stickler syndrome with a COL2A1 haploinsufficiency mutation: implications for genetic counselling. Journal of Medical Genetics, 37(4):318-320.

Kotzot, Dieter; Martinez, Maria-Jose; Bagci, Gulseren; Basaran, Seher; Baumer, Alessandra; Binkert, Franz; Brecevic, Lucrecja; Castellan, Claudio; Chrzanowska, Krystyna; Dutly, Fabrizio; Gutkowska, Anna; Berker, Sibel; Krajewska-Walasek, Malgorzata; Lüleci, Güven; Miny, Peter; Riegel, Mariluce; Schuffenhauer, Simone; Seidel, Heide; Schinzel, Albert (2000). Parental origin and mechanisms of formation of cytogenetically recognisable de novo direct and inverted duplications. Journal of Medical Genetics, 37(4):281-286.

Häfner, Franziska M; Salam, Ambar A; Linder, Thomas E; Balmer, Damina; Baumer Wolz, Alessandra; Schinzel, Albert; Spillmann, Thomas; Leal, Suzanne M (2000). A novel locus (DFNA24) for prelingual nonprogressive autosomal dominant nonsyndromic hearing loss maps to 4q35-qter in a large Swiss German kindred. American Journal of Human Genetics, 66(4):1437-1442.

Kotzot, Dieter; Balmer, Damina; Baumer Wolz, Alessandra; Chrzanowska, Krystyna; Hamel, Ben C J; Ilyina, Helena; Krajewska-Walasek, Malgorzata; Lurie, Iosif W; Otten, Barto J; Schoenle, Eugen; Tariverdian, Gholamali; Schinzel, Albert (2000). Maternal uniparental disomy 7 - review and further delineation of the phenotype. European Journal of Pediatrics, 159(4):247-256.

Röthlisberger, Benno; Chrzanowska, Krystyna; Balmer, Damina; Riegel, Mariluce; Schinzel, Albert (2000). A supernumerary marker chromosome originating from two different regions of chromosome 18. Journal of Medical Genetics, 37(2):121-124.

Weigell-Weber, Maike; Fokstuen, Siv; Török, Bèla; Niemeyer, Günter; Schinzel, Albert; Hergersberg, Martin (2000). Codons 837 and 838 in the Retinal Guanylate Cyclase Gene on Chromosome 17p: Hot Spots for Mutations in Autosomal Dominant Cone-Rod Dystrophy? Archives of Ophthalmology, 118(2):300.

Röthlisberger, Benno; Schinzel, Albert; Kotzot, Dieter (2000). A new molecular approach to investigate origin and formation of structural chromosome aberrations. Chromosome Research, 8(5):451-453.

Riegel, Mariluce; Baumer Wolz, Alessandra; Wisser, Josef; Achermann, Josef; Schinzel, Albert (2000). Prenatal diagnosis of mosaicism for a del(22)(q13). Prenatal Diagnosis, 20(1):76-79.

Hergersberg, M; Glatzel, M; Capone, A; Achermann, S; Hagmann, A; Fischer, J; Ersch, J; Aguzzi, A; Boltshauser, E (2000). Deletions in the spinal muscular atrophy gene region in a newborn with neuropathy and extreme generalized muscular weakness. European Journal of Paediatric Neurology, 4(1):35-38.

Schinzel, Albert (2000). Discrepancies in cytogenetic results between different tissues in two fetuses with Wolf- Hirschhorn syndrome. Cytogenetic and Genome Research, 91(1-4):231-233.

Moreira, Lilia M; Riegel, Mariluce (2000). Two sibs with duplication of 4q31-->qter due to 3:1 meiotic disjunction and mild phenotype. Genetic Counseling, 11(3):249-59.

1999

Röthlisberger, Benno; Kotzot, Dieter; Brecevic, Lukrecija; Koehler, Michael; Balmer, Damina; Binkert, Franz; Schinzel, Albert (1999). Recombinant balanced and unbalanced translocations as a consequence of a balanced complex chromosomal rearrangement involving eight breakpoints in four chromosomes. European Journal of Human Genetics, 7(8):873-883.

Baumer, A; Balmer, D; Schinzel, A (1999). Screening for UBE3A gene mutations in a group of Angelman syndrome patients selected according to non-stringent clinical criteria. Human Genetics, 105(6):598-602.

Blagitko, Nadya; Schulz, Ute; Schinzel, Albert; Ropers, Hans-Hilger; Kalscheuer, Vera M (1999). gamma2-COP, a novel imprinted gene on chromosome 7q32, defines a new imprinting cluster in the human genome. Human Molecular Genetics, 8(13):2387-2396.

Balmer, D; Baumer Wolz, Alessandra; Röthlisberger, B; Schinzel, Albert (1999). Severe intra-uterine growth retardation in a patient with maternal uniparental disomy 22 and a 22-trisomic placenta. Prenatal Diagnosis, 19(11):1061-1064.

Achermann, Sibylla; Largo, Remo; Kotzot, Dieter; Riegel, Mariluce; Schinzel, Albert (1999). Short stature, myopia, severe developmental delay, and peculiar facial appearance in two brothers: A new syndrome? American Journal of Medical Genetics, 86(5):486-491.

Wang, Michael S; Schinzel, Albert; Kotzot, Dieter; Balmer, Damina; Casey, Robin; Chodirker, Bernie N; Gyftodimou, Jolanda; Petersen, Michael B; Lopez-Rangel, Elana; Robinson, Wendy P (1999). Molecular and clinical correlation study of Williams-Beuren syndrome: No evidence of molecular factors in the deletion region or imprinting affecting clinical outcome. American Journal of Medical Genetics, 86(1):34-43.

Laccone, Franco; Engel, U; Holinski–Feder, E; Weigell–Weber, M; Marczinek, K; Nolte, D; Morris–Rosendahl, D J; Zühlke, C; Fuchs, K; Weirich–Schwaiger, H; Schlüter, G; von Beust, G; Vieira–Saecker, A M M; Weber, B H F; Riess, O (1999). DNA analysis of Huntington’s disease Five years of experience in Germany, Austria, and Switzerland. Neurology, 53(4):801-806.

Röthlisberger, Benno; Kotzot, Dieter; Gnehm, Hanspeter E; Schinzel, Albert (1999). "Essentially pure" partial trisomy (6)(p23?pter) in two brothers due to maternal t(6;17)(p23;p13.3). American Journal of Medical Genetics, 85(4):389-394.

Hergersberg, Martin (1999). Das Human-Genom-Projekt: Die Entschlüsselung des menschlichen Erbmaterials. Vierteljahrsschrift der Naturforschenden Gesellschaft in Zürich, 144(3):113-127.

Brewer, Carole; Holloway, Susan; Zawalnyski, Paul; Schinzel, Albert; FitzPatrick, David (1999). A Chromosomal Duplication Map of Malformations: Regions of Suspected Haplo- and Triplolethality — and Tolerance of Segmental Aneuploidy — in Humans. American Journal of Human Genetics, 64(6):1702-1708.

Fokstuen, Siv; Ginsburg, Claudia; Zachmann, Milo; Schinzel, Albert (1999). Maternal uniparental disomy 14 as a cause of intrauterine growth retardation and early onset of puberty. Journal of Pediatrics, 134(6):689-695.

Bamshad, Michael; Le, T; Watkins, W S; Dixon, M E; Kramer, B E; Roeder, A D; Carey, J C; Root, S; Schinzel, Albert; Van Maldergem, Lionel; Gardner, R J M; Lin, R C; Seidman, C E; Seidman, J G; Wallerstein, R; Moran, E; Sutphen, R; Campbell, C E; Jorde, L B (1999). The Spectrum of Mutations in TBX3: Genotype/Phenotype Relationship in Ulnar-Mammary Syndrome. American Journal of Human Genetics, 64(6):1550-1562.

Guttenbach, M; Haaf, T; Steinlein, C; Caesar, J; Schinzel, Albert; Schmid, M (1999). Ectopic NORs on human chromosomes 4qter and 8q11: rare chromosomal variants detected in two families. Journal of Medical Genetics, 36(4):339-42.

Kohlhase, Jürgen; Taschner, Peter E M; Burfeind, Peter; Pasche, Bastian; Newman, Bill; Blanck, Christopher; Breuning, Martijn H; ten Kate, Leo P; Maaswinkel-Mooy, Petra; Mitulla, Beate; Seidel, Jörg; Kirkpatrick, Susan J; Pauli, Richard M; Wargowski, David S; Devriendt, Koen; Proesmans, Willem; Gabrielli, Orazio; Coppa, Giovanni V; Wesby-van Swaay, Eveline; Trembath, Richard C; Schinzel, Albert; Reardon, William; Seemanova, Eva; Engelsberger, Wolfgang R (1999). Molecular analysis of SALL1 mutations in Townes-Brocks syndrome. American Journal of Human Genetics, 64(2):435-445.