Navigation auf zora.uzh.ch

Suche

ZORA (Zurich Open Repository and Archive)

View Communities & Collections

Export as
Number of items at this level: 980.

2024

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.

Soomann, Maarja; Bily, Viktor; Elgizouli, Magdeldin; Kraemer, Dennis; Akgül, Gülfirde; von Bernuth, Horst; Bloomfield, Markéta; Brodszki, Nicholas; Candotti, Fabio; Förster-Waldl, Elisabeth; Freiberger, Tomas; Giżewska, Maria; Klocperk, Adam; Kölsch, Uwe; Nichols, Kim E; Krüger, Renate; Oak, Ninad; Pac, Małgorzata; Prader, Seraina; Schmiegelow, Kjeld; Šedivá, Anna; Sogkas, Georgios; Stittrich, Anna; Stoltze, Ulrik Kristoffer; Theodoropoulou, Katerina; Wadt, Karin; Wong, Melanie; Zeyda, Maximillian; Schmid, Jana Pachlopnik; Trück, Johannes (2024). Variants in IGLL1 cause a broad phenotype from agammaglobulinemia to transient hypogammaglobulinemia. Journal of Allergy and Clinical Immunology, 154(5):1313-1324.e7.

Noble, Alexandra R; Masek, Markus; Hofmann, Claudia; Cuoco, Arianna; Rusterholz, Tamara D S; Özkoc, Hayriye; Greter, Nadja R; Phelps, Ian G; Vladimirov, Nikita; Kollmorgen, Sepp; Stoeckli, Esther; Bachmann-Gagescu, Ruxandra (2024). Shared and unique consequences of Joubert Syndrome gene dysfunction on the zebrafish central nervous system. Biology Open:Epub ahead of print.

Djebar, Morgane; Anselme, Isabelle; Pezeron, Guillaume; Bardet, Pierre-Luc; Cantaut-Belarif, Yasmine; Eschstruth, Alexis; López-Santos, Diego; Le Ribeuz, Hélène; Jenett, Arnim; Khoury, Hanane; Véziers, Joelle; Parmentier, Caroline; Hirschler, Aurélie; Carapito, Christine; Bachmann-Gagescu, Ruxandra; Schneider-Maunoury, Sylvie; Vesque, Christine (2024). Astrogliosis and neuroinflammation underlie scoliosis upon cilia dysfunction. eLife, 13:RP96831.

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 (2024). Loss‐of‐Function Variants in $CUL3$ Cause a Syndromic Neurodevelopmental Disorder. Annals of Neurology:Epub ahead of print.

Wood, Katherine A; Tong, R Spencer; Motta, Marialetizia; Cordeddu, Viviana; Scimone, Eleanor R; Bush, Stephen J; Maxwell, Dale W; Giannoulatou, Eleni; Caputo, Viviana; Traversa, Alice; Mancini, Cecilia; Ferrero, Giovanni Battista; Benedicenti, Francesco; Grammatico, Paola; Melis, Daniela; Steindl, Katharina; Brunetti-Pierri, Nicola; Trevisson, Eva; Wilkie, Andrew OM; Lin, Angela E; Cormier-Daire, Valérie; Twigg, Stephen RF; Tartaglia, Marco; Goriely, Anne (2024). SMAD4 mutations causing Myhre syndrome are under positive selection in the male germline. American Journal of Human Genetics, 111(9):1953-1969.

Maggi, Jordi; Feil, Silke; Gloggnitzer, Jiradet; Maggi, Kevin; Bachmann-Gagescu, Ruxandra; Gerth-Kahlert, Christina; Koller, Samuel; Berger, Wolfgang (2024). Nanopore Deep Sequencing as a Tool to Characterize and Quantify Aberrant Splicing Caused by Variants in Inherited Retinal Dystrophy Genes. International Journal of Molecular Sciences, 25(17):9569.

Boonsawat, Paranchai; Asadollahi, Reza; Niedrist Baumann, Dunja; Steindl, Katharina; Begemann, Anaïs; Joset, Pascal; Bhoj, Elizabeth J; Li, Dong; Zackai, Elaine; Vetro, Annalisa; Barba, Carmen; Guerrini, Renzo; Whalen, Sandra; Keren, Boris; Khan, Amjad; Jing, Duan; Palomares Bralo, María; Rikeros Orozco, Emi; Hao, Qin; Schlott Kristiansen, Britta; Zheng, Bixia; Donnelly, Deirdre; Clowes, Virginia; Zweier, Markus; Papik, Michael; Siegel, Gabriele; Sabatino, Valeria; Mocera, Martina; Horn, Anselm H C; Sticht, Heinrich; Rauch, Anita (2024). Deleterious ZNRF3 germline variants cause neurodevelopmental disorders with mirror brain phenotypes via domain-specific effects on Wnt/β-catenin signaling. American Journal of Human Genetics, 111(9):1994-2011.

Bürger, Olga; Humbel, Angelika; Ivanovski, Ivan; Baumer, Alessandra; Rauch, Anita (2024). Further evidence for an attenuated phenotype of in‐frame DMD deletions affecting the central rod domain of dystrophin around exon 48. American Journal of Medical Genetics. Part A:Epub ahead of print.

Harel, Tamar; Spicher, Camille; Scheer, Elisabeth; Buchan, Jillian G; Cech, Jennifer; Folland, Chiara; Frey, Tanja; Holtz, Alexander M; Innes, A Micheil; Keren, Boris; Macken, William L; Marcelis, Carlo; Otten, Catherine E; Paolucci, Sarah A; Petit, Florence; Pfundt, Rolph; Pitceathly, Robert D S; Rauch, Anita; Ravenscroft, Gianina; Sanchev, Rani; Steindl, Katharina; Tammer, Femke; Tyndall, Amanda; Devys, Didier; Vincent, Stéphane D; Elpeleg, Orly; Tora, László (2024). De novo variants in ATXN7L3 lead to developmental delay, hypotonia and distinctive facial features. Brain: a journal of neurology, 147(8):2732-2744.

Clara-Hwang, Angela; Stefani, Stefani; Lau, Tracy; Scala, Marcello; Aynekin, Busra; Bernardo, Pia; Madia, Francesca; Bakhtadze, Sophia; Kaiyrzhanov, Rauan; Maroofian, Reza; Zara, Federico; Srinivasan, Varunvenkat M; Gowda, Vykuntaraju; Guliyeva, Ulviyya; Montavont, Alexandra; Poulat, Anne-Lise; Güleç, Ayten; Berger, Colette; Ville, Dorothee M; de Bellescize, Julitta; Cabet, Sara; Wonneberger, Antje; Schulz, Alexander; Rodriguez-Palmero, Agusti; Chatron, Nicolas; Lesca, Gaetan; Per, Hüseyin; Goel, Himanshu; Brown, Janis; Frey, Tanja; Steindl, Katharina; Rauch, Anita; Severino, Mariasavina; Houlden, Henry; Nicolaides, Paola; Striano, Pasquale; Efthymiou, Stephanie (2024). Expanding the Mutational Landscape and Clinical Phenotype of CHD2-Related Encephalopathy. Neurology Genetics, 10(4):e200168.

Dubach, Irina Léa. Unraveling Macrophage Polarization: Deciphering Heme Signaling Dynamics after Hemolysis for Precision Inflammation Modulation. 2024, University of Zurich, Faculty of Science.

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 (2024). SwissGenVar: A Platform for Clinical-Grade Interpretation of Genetic Variants to Foster Personalized Healthcare in Switzerland. Journal of Personalized Medicine, 14(6):648.

Maggi, Jordi; Koller, Samuel; Feil, Silke; Bachmann-Gagescu, Ruxandra; Gerth-Kahlert, Christina; Berger, Wolfgang (2024). Limited Added Diagnostic Value of Whole Genome Sequencing in Genetic Testing of Inherited Retinal Diseases in a Swiss Patient Cohort. International Journal of Molecular Sciences, 25(6540):6540.

no authors listed (2024). Zürich: Prof. Dr. med. Ruxandra Bachmann-Gagescu zur ausserordentlichen Professorin für Entwicklungsgenetik ernannt. Medizinische Genetik, 36(2):133.

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.

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, 32(6):619-629.

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, 111(6):1184-1205.

Bassani, Sissy; Chrast, Jacqueline; Ambrosini, Giovanna; Voisin, Norine; Schütz, Frédéric; Brusco, Alfredo; Sirchia, Fabio; Turban, Lydia; Schubert, Susanna; Abou Jamra, Rami; Schlump, Jan-Ulrich; DeMille, Desiree; Bayrak-Toydemir, Pinar; Nelson, Gary Rex; Wong, Kristen Nicole; Duncanson, Laura; Mosera, Mackenzie; Gilissen, Christian; Vissers, Lisenka E L M; Pfundt, Rolph; Kersseboom, Rogier; Yttervik, Hilde; Hansen, Geir Åsmund Myge; Smeland, Marie Falkenberg; Butler, Kameryn M; Lyons, Michael J; Carvalho, Claudia M B; Zhang, Chaofan; Lupski, James R; Potocki, Lorraine; et al (2024). Variant-specific pathophysiological mechanisms of AFF3 differently influence transcriptome profiles. Genome Medicine, 16(72):72.

Djebar, Morgane; Anselme, Isabelle; Pezeron, Guillaume; Bardet, Pierre-Luc; Cantaut-Belarif, Yasmine; Eschstruth, Alexis; López Santos, Diego; Le Ribeuz, Hélène; Jenett, Arnim; Khoury, Hanane; Véziers, Joelle; Parmentier, Caroline; Hirschler, Aurélie; Carapito, Christine; Bachmann-Gagescu, Ruxandra; Schneider-Maunoury, Sylvie; Vesque, Christine (2024). Astrogliosis and Neuroinflammation Underlie Scoliosis Upon Cilia Dysfunction. eLife: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, 20(6):651-675.

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.

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.

2023

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

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

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

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

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

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

Belosevic, Adrian; Minder, Anna-Elisabeth; Gueuning, Morgan; van Breemen, Franziska; Thun, Gian Andri; Mattle-Greminger, Maja Patricia; Meyer, Stefan; Baumer Wolz, 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 Wolz, 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.

2022

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

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

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

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

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

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

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

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

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

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

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

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

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

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

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

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

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

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

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

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

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

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

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

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

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

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

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

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

2021

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

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

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

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

Begemann, Anaïs; Sticht, Heinrich; Begtrup, Amber; Vitobello, Antonio; Faivre, Laurence; Asadollahi, Reza; Zweier, Markus; Steindl, Katharina; Rauch, Anita (2021). New insights into the clinical and molecular spectrum of the novel CYFIP2-related neurodevelopmental disorder and impairment of the WRC-mediated actin dynamics. Genetics in Medicine, 23(3):543-554.

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

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

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

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

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

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

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

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

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

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

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

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

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

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

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

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

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

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

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

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

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

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

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

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

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

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

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

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

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

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

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

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

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

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

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

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

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

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

2020

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

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

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

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

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

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

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

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

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

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

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

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

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

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

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

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

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

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

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

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

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

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

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

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

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

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

2019

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

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

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

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

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

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

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

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

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

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

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

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

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

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

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

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

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

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

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

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

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

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

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

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

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

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

2018

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

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

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

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

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

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

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

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

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

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

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

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

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

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

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

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

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

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

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

Higgins, Rebecca Geraldine. Genetic architecture of linear localized scleroderma. 2018, University of Zurich, Faculty of Science.

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

2017

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

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

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

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

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

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

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

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

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

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

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

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

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

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

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

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

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

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

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

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

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

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

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

2016

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

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

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

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

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

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

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

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

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

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

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

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

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

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

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

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

2015

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

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

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

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

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

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

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

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

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

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

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

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

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

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

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

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

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

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

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

2014

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

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

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

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

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

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

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

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

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

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

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

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

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

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

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

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

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

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

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.

2013

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

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

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

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

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

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

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

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

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

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

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

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

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

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

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

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

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

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

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

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

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

2012

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

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

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

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

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 CC2D2A-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.

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

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

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

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

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

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

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

2011

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

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

Bachmann-Gagescu, Ruxandra; Phelps, Ian G; Stearns, George; Link, Brian A; Brockerhoff, Susan E; Moens, Cecilia B; Doherty, Dan (2011). The ciliopathy gene cc2d2a controls zebrafish photoreceptor outer segment development through a role in Rab8-dependent vesicle trafficking. Human Molecular Genetics, 20(20):4041-4055.

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

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

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

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

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

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

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

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

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

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

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

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

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

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

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

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

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

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

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

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

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

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

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

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

2010

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

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

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

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

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

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

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

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

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

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

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

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

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

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

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

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

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

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

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

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

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

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

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

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

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

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

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

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

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

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

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

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

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

2009

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

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

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

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

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

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

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

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

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

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

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

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

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

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

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

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

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

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

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

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

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

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

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

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

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

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

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

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

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

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

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

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

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

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

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

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

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

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

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

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

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

2008

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

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

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

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

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

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

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

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

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

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

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

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

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

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

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

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

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

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

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

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

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

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

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

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

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

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

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

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

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

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

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

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

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

2007

De Gregori, M; Ciccone, R; Magini, P; Pramparo, T; Gimelli, S; Messa, J; Novara, F; Vetro, A; Rossi, E; Maraschio, P; Bonaglia, M C; Anichini, C; Ferrero, G B; Silengo, M; Fazzi, E; Zatterale, Adriana; Fischetto, R; Previdere, C; Belli, S; Turci, A; Calabrese, G; 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.

Temtamy, Samia A; Kamel, Alaa K; Ismail, Samira; Helmy, Nivine A; Aglan, Mona S; El Gammal, Mona; El Ruby, Mona; Mohamed, A M (2007). Phenotypic and cytogenetic spectrum of 9p trisomy. Genetic Counseling, 18(1):29-48.

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

2006

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

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

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

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

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

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

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

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

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

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

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

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

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

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

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

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

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

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

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

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

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

2005

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

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

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

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

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

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

Descipio, Cheryl; Schneider, Lori; Young, Terri L; Wasserman, Nora; Yaeger, Dinah; Lu, Fengmin; Wheeler, Patricia G; Williams, Marc S; Bason, Lynn; Jukofsky, Lori; Mennon, Ammini; Geschwindt, Ryan; Chudley, Albert E; Saraiva, Jorge; Schinzel, Albert; Guichet, Agnès; Dobyns, William E; Toutain, Annick; Spinner, Nancy B; Krantz, Ian D (2005). Subtelomeric deletions of chromosome 6p: molecular and cytogenetic characterization of three new cases with phenotypic overlap with Ritscher-Schinzel (3C) syndrome. American Journal of Medical Genetics. Part A, 134A(1):3-11.

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

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

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

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

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

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

2004

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

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

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

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

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

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

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

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

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

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

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

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

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

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

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

2003

Godard, Béatrice; Kääriäinen, Helena; Kristoffersson, Ulf; Tranebjaerg, Lisbeth; Coviello, Domenico; Aymé, Ségolène (2003). Provision of genetic services in Europe: current practices and issues. European Journal of Human Genetics, 11(S2):S13-S48.

Horsthemke, Bernhard; Lich, Christina; Buiting, Karin; Achmann, Roland; Aulehla-Scholz, Christa; Baumer, 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, Alessandra; Schinzel, Albert (2003). No evidence of submicroscopic deletion or segmental uniparental disomy within the candidate regions 7p11.2-p13 and 7q31-qter in a series of non-uniparental disomy Silver–Russell syndrome cases. Clinical Genetics, 64(3):252-254.

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

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

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

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

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

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

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

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

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

2002

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

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

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

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

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

Schinzel, Albert (2002). Werner Schmid, 1930–2002. Cytogenetic and Genome Research, 97(1-2):5-6.

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;