西亚试剂：X-exome sequencing of 405 unresolved families identifies se

Department of Human Molecular Genetics, Max Planck Institute for Molecular Genetics, Berlin, Germany
2Department of Computational Molecular Biology, Max Planck Institute for Molecular Genetics, Berlin, Germany
3University Paris Descartes, Paris, France
4Centre National de la Recherche Scientifique Unité Mixte de Recherche 8104, Institut National de la Santé et de la Recherche Médicale Unité 1016, Institut Cochin, Paris, France
5Center for Human Genetics, University Hospitals Leuven, Leuven, Belgium
6Inserm U930 ‘Imaging and Brain’, Tours, France
7University François-Rabelais, Tours, France
8Centre Hospitalier Régional Universitaire, Service de Génétique, Tours, France
9Department of Human Genetics, Radboud University Medical Center, Donders Institute for Brain, Cognition and Behaviour, Nijmegen, The Netherlands
10Max-Delbrück-Centrum für Molekulare Medizin, Berlin, Germany
11Leibniz-Institut für Molekulare Pharmakologie, Berlin, Germany
12Human Genome Laboratory, VIB Center for the Biology of Disease, Leuven, Belgium
13Human Genome Laboratory, Department of Human Genetics, K.U. Leuven, Leuven, Belgium
14Department of Clinical Genetics, Maastricht University Medical Center, azM, Maastricht, The Netherlands
15School for Oncology and Developmental Biology, GROW, Maastricht University, Maastricht, The Netherlands
16School of Paediatrics and Reproductive Health, The University of Adelaide, Adelaide, SA, Australia
17Robinson Research Institute, The University of Adelaide, Adelaide, SA, Australia
18National Heart and Lung Institute, Imperial College London, London, UK
19SA Pathology, Women’s and Children’s Hospital, Adelaide, SA, Australia
20Genetics of Learning and Disability Service, Hunter Genetics, Waratah, NSW, Australia
21Genetic Services of Western Australia, King Edward Memorial Hospital, Perth, WA, Australia
22School of Paediatrics and Child Health, University of Western Australia, Perth, WA, Australia
23Institute for Immunology and Infectious Diseases, Murdoch University, Perth, WA, Australia
24Telethon Kids Institute, Perth, WA, Australia
25Institut für Humangenetik, Universität zu Lübeck, Lübeck, Germany
26Institut für Humangenetik, Justus-Liebig-Universität Giessen, Giessen, Germany
27bio.logis Center for Human Genetics, Frankfurt a. M., Germany
28Chair and Department of Endocrinology, Metabolism and Internal Diseases, Ponzan University of Medical Sciences, Poznan, Poland
29Chair and Department of Medical Genetics, Poznan University of Medical Sciences, Poznan, Poland
30Department of Clinical Genetics, Odense University Hospital, Odense, Denmark
31Institut für Humangenetik, Universitätsklinikum Münster, Muenster, Germany
32Unidad de Genética Clínica, Hospital Virgen del Rocío, Sevilla, España
33Department of Immunology, Genetics and Pathology, Uppsala University, Uppsala, Sweden
34Institut für Medizinische Genetik und Angewandte Genomik, Tübingen, Germany
35Kinderzentrum München, München, Germany
36Centre de Génétique Humaine, Université de Franche-Comté, Besançon, France
37Service de Génétique, Hôpital Jeanne de Flandre CHRU de Lilles, Lille, France
38Service de Neuro-Pédiatrie, CHU Montpellier, Montpellier, France
39Laboratoire SESEP, Centre hospitalier de Versailles, Le Chesnay, France
40Department of Biochemistry and Medical Genetics, University of Manitoba, Winnipeg, MB, Canada
Correspondence: Dr VM Kalscheuer, Max Planck Institute for Molecular Genetics, Ihnestrasse 73, Berlin 14195, Germany. E-mail:42Present address: Institut für Radiobiologie der Bundeswehr in Verbindung mit der Universität Ulm, 80937 München, Germany

Received 4 August 2014; Revised 17 November 2014; Accepted 8 December 2014
Advance online publication 3 February 2015

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