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Alves, Victoria Cunha; Carro, Eva; Figueiro-Silva, Joana (2024). Unveiling DNA methylation in Alzheimer’s disease: a review of array-based human brain studies. Neural Regeneration Research, 19(11):2365-2376.

Kolokotronis, Konstantinos; Suter, Aude-Annick; Ivanovski, Ivan; Frey, Tanja; Bahr, Angela; Rauch, Anita; Steindl, Katharina (2024). DPF2-related Coffin-Siris syndrome type 7 in two generations. European Journal of Medical Genetics, 69:104945.

Meier-Abt, Fabienne; Kraemer, Dennis; Braun, Nils; Reinehr, Michael; Stutz-Grunder, Eveline; Steindl, Katharina; Rauch, Anita (2024). Further evidence that the neurodevelopmental gene FBXW7 predisposes to Wilms tumor. American Journal of Medical Genetics. Part A, 194(6):e63528.

Yang, Fang; Begemann, Anaïs; Reichhart, Nadine; Haeckel, Akvile; Steindl, Katharina; Schellenberger, Eyk; Sturm, Ronja Fini; Barth, Magalie; Bassani, Sissy; Boonsawat, Paranchai; Courtin, Thomas; Delobel, Bruno; Gunning, Boudewijn; Hardies, Katia; Jennesson, Mélanie; Legoff, Louis; Linnankivi, Tarja; Prouteau, Clément; Smal, Noor; Spodenkiewicz, Marta; Toelle, Sandra P; Van Gassen, Koen; Van Paesschen, Wim; Verbeek, Nienke; Ziegler, Alban; Zweier, Markus; Horn, Anselm H C; Sticht, Heinrich; Lerche, Holger; Weckhuysen, Sarah; Strauss, Olaf; Rauch, Anita (2024). Missense variants in ANO4 cause sporadic encephalopathic or familial epilepsy with evidence for a dominant-negative effect. American Journal of Human Genetics:Epub ahead of print.

Holfeld, Aleš; Schuster, Dina; Sesterhenn, Fabian; Gillingham, Alison K; Stalder, Patrick; Haenseler, Walther; Barrio-Hernandez, Inigo; Ghosh, Dhiman; Vowles, Jane; Cowley, Sally A; Nagel, Luise; Khanppnavar, Basavraj; Serdiuk, Tetiana; Beltrao, Pedro; Korkhov, Volodymyr M; Munro, Sean; Riek, Roland; de Souza, Natalie; Picotti, Paola (2024). Systematic identification of structure-specific protein–protein interactions. Molecular Systems Biology:Epub ahead of print.

Yde Ohki, Cristine Marie. Involvement of the Wnt Signaling in Methylphenidate (Ritalin) Treatment of ADHD. 2024, University of Zurich, Faculty of Science.

Alves, Victoria Cunha; Figueiro-Silva, Joana; Trullas, Ramon; Ferrer, Isidre; Carro, Eva (2024). Olfactory Receptor OR2K2 Expression in Human Choroid Plexus as a Potential Marker in Early Sporadic Alzheimer’s Disease. Genes, 15(3):385.

Nashabat, Marwan; Nabavizadeh, Nasrinsadat; Saraçoğlu, Hilal Pırıl; Sarıbaş, Burak; Avcı, Şahin; Börklü, Esra; Beillard, Emmanuel; Yılmaz, Elanur; Uygur, Seyide Ecesu; Kayhan, Cavit Kerem; Bosco, Luca; Eren, Zeynep Bengi; Steindl, Katharina; Richter, Manuela Friederike; Bademci, Guney; Rauch, Anita; Fattahi, Zohreh; Valentino, Maria Lucia; Connolly, Anne M; Bahr, Angela; Viola, Laura; Bergmann, Anke Katharina; Rocha, Maria Eugenia; Peart, LeShon; Castro-Rojas, Derly Liseth; Bültmann, Eva; Khan, Suliman; Giarrana, Miriam Liliana; Teleanu, Raluca Ioana; Stettner, Georg M; et al (2024). SNUPN deficiency causes a recessive muscular dystrophy due to RNA mis-splicing and ECM dysregulation. Nature Communications, 15(1758):1758.

Cabello Ferrete, Elena María. Utilizing Genetic Linkage and Rare Variant Association Studies to Unravel Novel Disease Etiologies. 2024, University of Zurich, Faculty of Science.

Brouwers, Sofie; Heimgartner, Raphael; Laptseva, Natallia; Aguzzi, Adriano; Ehl, Niklas F; Fehr, Thomas; Hitz, Felicitas; Jung, Hans H; Kälin, Joel; Manz, Markus G; Müllhaupt, Beat; Ruschitzka, Frank; Seeger, Harald; Stussi, Georg; Zweier, Markus; Flammer, Andreas J; Gerber, Bernhard; Schwotzer, Rahel (2024). Historic characteristics and mortality of patients in the Swiss Amyloidosis Registry. Swiss Medical Weekly, 154(2):3485.

Caraffi, Stefano Giuseppe; van der Laan, Liselot; Rooney, Kathleen; Trajkova, Slavica; Zuntini, Roberta; Relator, Raissa; Haghshenas, Sadegheh; Levy, Michael A; Baldo, Chiara; Mandrile, Giorgia; Lauzon, Carolyn; Cordelli, Duccio Maria; Ivanovski, Ivan; Fetta, Anna; Sukarova, Elena; Brusco, Alfredo; Pavinato, Lisa; Pullano, Verdiana; Zollino, Marcella; McConkey, Haley; Tartaglia, Marco; Ferrero, Giovanni Battista; Sadikovic, Bekim; Garavelli, Livia (2024). Identification of the DNA methylation signature of Mowat-Wilson syndrome. European Journal of Human Genetics:Epub ahead of print.

Gokce-Samar, Zeynep; Vetro, Annalisa; De Bellescize, Julitta; Pisano, Tiziana; Monteiro, Laloe; Penaud, Noémie; Korff, Christian M; Fluss, Joel; Marini, Carla; Cesaroni, Elisabetta; Alvarez, Blanca Mercedes; Sanlaville, Damien; Chatron, Nicolas; Arzimanoglou, Alexis A; Labalme, Audrey; Cuddapah, Vishnu A; Ruggiero, Sarah M; Lecoquierre, Francois; Nicolas, Gael; Marie, Guerrot Anne; Lebas, Axel; Testard, Herve O; Helbig, Katherine L; Ruiz, Anna; Ngoh, Adeline; Kurian, Manju A; Joset, Pascal; Ramantani, Georgia; Steindl, Katharina; et al (2024). Molecular and Phenotypic Characterization of the RORB-Related Disorder. Neurology, 102(2):e207945.

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.

Belosevic, Adrian; Minder, Anna-Elisabeth; Gueuning, Morgan; van Breemen, Franziska; Thun, Gian Andri; Mattle-Greminger, Maja Patricia; Meyer, Stefan; Baumer, Alessandra; Minder, Elisabeth I; Schneider-Yin, Xiaoye; Barman-Aksözen, Jasmin (2023). First Report of a Low-Frequency Mosaic Mutation in the Hydroxymethylbilane Synthase Gene Causing Acute Intermittent Porphyria. Life, 13(9):1889.

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; de Souza, Natalie; 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.

Masek, Markus; Bachmann-Gagescu, Ruxandra (2023). Control of protein and lipid composition of photoreceptor outer segments—Implications for retinal disease. In: Iomini, Carlo; Sun, Yang. Cilia Signaling in Development and Disease (1. Auflage). Amsterdam: Elsevier, 165-225.

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.

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.

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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.

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.

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.

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, 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.

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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.

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.

Pugin, Fiona. Sleep electrophysiological changes in children and adolescents in relation to cerebral oxygenation and after intensive working memory training. 2014, University of Zurich, Faculty of Medicine.

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.

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.

Bachmann-Gagescu, Ruxandra; Ishak, Gisele E; Dempsey, Jennifer C; Adkins, Jonathan; O'Day, Diana; Phelps, Ian G; Gunay-Aygun, Meral; Kline, Antonie D; Szczaluba, Krzysztof; Martorell, Loreto; Alswaid, Abdulrahman; Alrasheed, Shatha; Pai, Shashidhar; Izatt, Louise; Ronan, Anne; Parisi, Melissa A; Mefford, Heather; Glass, Ian; Doherty, Dan (2012). Genotype–phenotype correlation in<i>CC2D2A</i>-related Joubert syndrome reveals an association with ventriculomegaly and seizures. Journal of Medical Genetics, 49(2):126-137.

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.

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

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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.

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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.

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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.

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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.

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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.

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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.

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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.

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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.

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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.

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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.

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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.

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.

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.

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.

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; Bernardi, F; 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.

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.

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.

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.

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.

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.

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.

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;