CLINICAL GENETICS

作者Fiona Journal; Nada Kojovic; Kenza Latrèche; Stefania Solazzo; Marie Schaer

作者单位1. Department of Psychiatry, Faculty of Medicine University of Geneva Geneva Switzerland; 2. Faculty of Psychology and Science of Education (FAPSE) University of Geneva Geneva Switzerland; 3. Fondation Pôle Autisme Geneva Switzerland

作者Katrine M. Johannesen; Karen Grønskov; Line Kessel; Sarah Linea von Holstein; Lisbeth Birk Møller; Mette Kjøbæk Gundestrup Andersen; Marianne Søndergaard Khinchi; Steffen Hamann; Marianne Wegener; Mette Bertelsen

作者单位1. Department of Genetics Copenhagen University Hospital ‐ Rigshospitalet Copenhagen Denmark; 2. Department of Ophthalmology Copenhagen University Hospital ‐ Rigshospitalet Glostrup Denmark; 3. Department of Clinical Medicine University of Copenhagen Copenhagen Denmark; 4. Department of Child Neurology Danish Epilepsy Centre Dianalund Denmark; 5. Neuro‐Ophthalmology Department Rothschild Foundation Hospital Paris France

作者Sarah Hammond; Dervla M. Connaughton

作者单位1. Division of Nephrology, Department of Medicine London Health Sciences Centre London Ontario Canada; 2. Department of Biochemistry, Schulich School of Medicine and Dentistry University of Western Ontario London Ontario Canada

作者Dandan Chen; Yuhan Wang; Pengyao Ren; Yangyang Zhou; Chun Zhang; Waner Wang; Jiayi Geng; Yitong Chai; Jiajia Xie; Shuangjie Li; Zhongyi Yan; Xiaoqing Wang; Lei Zhang

作者单位1. Department of Pathogen Biology, School of Basic Medical Sciences Henan University Kaifeng China; 2. Henan Provincial Engineering Center for Tumor Molecular Medicine, Kaifeng Key Laboratory of Cell Signal Transduction Henan University Kaifeng China; 3. Kaifeng155 Hospital, China RongTong Medical Healthcare Group Co. Ltd. Kaifeng China; 4. Shanghai Yangzhi Rehabilitation Hospital (Shanghai Sunshine Rehabilitation Center) Tongji University School of Medicine Shanghai China; 5. Clinical Center for Brain and Spinal Cord Research Tongji University Shanghai China; 6. Affiliated Shanghai Blue Cross Brain Hospital, School of Medicine Tongji University Shanghai China

作者Evan Burchfiel; Xiaonan Zhao; Nichole M. Owen; Tia Gordon; Mahshid S. Azamian; Eric C. Kao; Fan Xia; Xi Luo; Jill A. Rosenfeld; Seema R. Lalani; Allison P. Ortega; Steven B. Bleyl; Florence Petit; Sulekha Rajagopolan; Bénédicte Demeer; Meredith K. Gillespie; Lijia Huang; Matthew Osmond; Kym M. Boycott; Kyra E. Stuurman; Marjon A. van Slegtenhorst; Haley Soller; Céline Jost; Aurore Garde; Hana Safraou; Laurence Faivre; Victor Faundes; Daryl A. Scott

作者单位1. Department of Molecular and Human Genetics Baylor College of Medicine Houston Texas USA; 2. Baylor Genetics Houston Texas USA; 3. Department of Cell and Gene Therapy Baylor College of Medicine Houston Texas USA; 4. Department of Pediatrics, Division of Medical Genetics University of Utah Salt Lake City Utah USA; 5. Clinical Genetics Department Univ. Lille, CHU Lille Lille France; 6. Department of Clinical Genetics Liverpool Hospital Liverpool New South Wales Australia; 7. Centre Hospitalier Universitaire de Amiens‐Picardie Amiens France; 8. Chimere INSERM UA21 University of Picardie‐Jules Verne Amiens France; 9. Department of Genetics Children's Hospital of Eastern Ontario Ottawa Ontario Canada; 10. Children's Hospital of Eastern Ontario Research Institute University of Ottawa Ottawa Ontario Canada; 11. Department of Clinical Genetics Erasmus MC University Medical Center Rotterdam the Netherlands; 12. Division of Genetics and Genomic Medicine UPMC Children's Hospital of Pittsburgh Pittsburgh Pennsylvania USA; 13. Université Bourgogne Europe, CHU Dijon Bourgogne, Inserm, CTM UMR1231 Dijon France; 14. Laboratoire de Génomique Médicale, Inserm, UMR1231, équipe GAD Université Bourgogne Europe, CHU Dijon Bourgogne Dijon France; 15. Laboratorio de Genética y Enfermedades Metabólicas, Instituto de Nutrición y Tecnología de los Alimentos Universidad de Chile Santiago Chile

作者Helena Wigoda; Amjad Khan; Bryce A. Mendelsohn; Noriko Miyake; Nobuhiko Okamoto; Naomichi Matsumoto; Patricia J. C. Knijnenburg; Johanna M. van Hagen; Jiddeke van de Kamp; Quinten Waisfisz; Bryn D. Webb

作者单位1. Department of Pediatrics Center for Precision Medicine University of Wisconsin School of Medicine and Public Health Madison Wisconsin USA; 2. Department of Zoology Institute of Biological Sciences, University of Lakki Marwat Lakki Marwat Khyber Pakhtunkhwa Pakistan; 3. Department of Medical Genetics Kaiser Permanente Oakland Medical Center Oakland California USA; 4. Department of Pediatrics Nagasaki University Institute of Biomedical Sciences Nagasaki Japan; 5. Department of Medical Genetics Osaka Women's and Children's Hospital Izumi Osaka Japan; 6. Department of Human Genetics Graduate School of Medicine, Yokohama City University Yokohama Japan; 7. Department of Human Genetics Amsterdam UMC Amsterdam the Netherlands

作者Abdullah Aldalaan; Seba Nadeef; Ebtissal Khouj; Fayez Alahmadi; Bayan Aljamal; Noura Alturaif; Nadeen Alharbi; Firdous Abdulwahab; Mashael Alqahtani; Fatima Alzubi; Omar Abuyousef; Mais O. Hashem; Hamdiah Zaytoun; Hanadi Alhamoud; Tarfa Alshidi; Amal Jaafar; Lama Alabdi; Fowzan S. Alkuraya

作者单位1. Pulmonary Hypertension Program, Lung Health Center, King Faisal Specialist Hospital and Research Center Riyadh Saudi Arabia; 2. Department of Translational Genomics Center for Genomic Medicine, King Faisal Specialist Hospital, and Research Center Riyadh Saudi Arabia; 3. Innovation and Research, King Faisal Specialist Hospital and Research Centre Riyadh Saudi Arabia; 4. Genomic Medicine Center of Excellence, King Faisal Specialist Hospital and Research Center Riyadh Saudi Arabia; 5. Lifera Omics Riyadh Kingdom of Saudi Arabia

作者Ian A. Cree; Mark J. Arends; Joseph D. Khoury; Erika R. E. Denton; Anthony J. Gill; Alexander J. Lazar; Ian M. Frayling; Stefan M. Pfister; Mark A. Rubin; Katia R. M. Leite; Raymond Dalgleish; Elspeth A. Bruford; Sharon E. Plon; Ada Hamosh; Michael Francis Walsh; Gabrielle Goldman‐Lévy; Harshima Wijesinghe; William D. Foulkes; Dilani Lokuhetty

作者单位1. International Agency for Research on Cancer Lyon France; 2. Cancer Research UK Scotland Centre, Institute of Genetics and Cancer University of Edinburgh Edinburgh UK; 3. Department of Pathology, Microbiology, and Immunology University of Nebraska Medical Center Omaha Nebraska USA; 4. Norfolk and Norwich University Hospitals NHS Foundation Trust Norwich UK; 5. NSW Health Pathology, Department of Anatomical Pathology Royal North Shore Hospital St Leonards New South Wales Australia; 6. Departments of Pathology and Genomic Medicine The University of Texas MD Anderson Cancer Center Houston Texas USA; 7. Inherited Tumour Syndromes Research Group, School of Medicine Cardiff University Cardiff UK; 8. Hopp Children's Cancer Center Heidelberg (KiTZ) Heidelberg Germany; 9. Universität Bern Bern Switzerland; 10. University of São Paulo Medical School São Paulo São Paulo Brazil; 11. Division of Genetics and Genome Biology University of Leicester Leicester UK; 12. School of Clinical Medicine University of Cambridge Cambridge UK; 13. Baylor College of Medicine Houston Texas USA; 14. Department of Genetic Medicine (DGM), McKusick‐Nathans Institute Johns Hopkins University Baltimore Maryland USA; 15. Memorial Sloan Kettering Cancer Center New York New York USA; 16. Department of Human Genetics McGill University Montreal Quebec Canada

作者Carmela Fusco; Sandra Mastroianno; Silvia Morlino; Riccardo Pracella; Federica Russo; Ester Maria Lucia Bevere; Orazio Palumbo; Giuseppe Di Stolfo; Marco Castori

作者单位1. Inborn Errors of Morphogenesis Research Unit and Division of Medical Genetics Fondazione IRCCS‐Casa Sollievo Della Sofferenza San Giovanni Rotondo Italy; 2. Division of Electrophysiology Fondazione IRCCS‐Casa Sollievo Della Sofferenza San Giovanni Rotondo Italy

作者Aslı Genç; Elif Sarıkaya; Ahmet Cevdet Ceylan; Büşranur Çavdarlı; İbrahim İlker Çetin; İlkay Erdoğan; Esra Kılıç

作者单位1. Department of Pediatric Genetics University of Health Sciences, Ankara Bilkent City Hospital Ankara Turkey; 2. Department of Pediatrics University of Health Sciences, Ankara Bilkent City Hospital Ankara Turkey; 3. Faculty of Medicine, Department of Medical Genetics Ankara Yıldırım Beyazit University Ankara Turkey; 4. Department of Medical Genetics Ankara Bilkent City Hospital Ankara Turkey; 5. Department of Pediatric Cardiology University of Health Sciences, Ankara Bilkent City Hospital Ankara Turkey; 6. Department of Pediatric Cardiology Başkent University Ankara Hospital Ankara Turkey