AMERICAN JOURNAL OF MEDICAL GENETICS PART A

作者Takashi Okuno; Tatsuto Shimizu; Aiko Igarashi; Kazumi Ikeda; Masamichi Ikawa; Sumihito Togi; Hiroki Ura; Yo Niida; Katsutsugu Umeda

作者单位1. Department of Pediatrics Faculty of Medical Sciences, University of Fukui Fukui Japan; 2. Department of Medical Genetics University of Fukui Hospital Fukui Japan; 3. Center for Clinical Genomics Kanazawa Medical University Hospital Uchinada Ishikawa Japan; 4. Division of Genomic Medicine, Department of Advanced Medicine Medical Research Institute, Kanazawa Medical University Uchinada Ishikawa Japan

作者Ayman Y. Ibrahim; Erika Levine; Ayuko Iverson; Sangeeta Sharma; Lisa Forman; Christina Cuccia; Mafalda Barbosa

作者单位1. Johns Hopkins University Baltimore Maryland USA; 2. Icahn School of Medicine at Mount Sinai New York New York USA

作者Narinder Singh; Arpita Neogi; Liliane H. Gibbs; Jagdish Soni; Elizabeth Chao; Virginia Kimonis

作者单位1. Division of Genetics and Genomic Medicine, Department of Pediatrics University of California Irvine California USA; 2. Chino Valley Medical Center California USA; 3. Cardiovascular Research Center, Division of Cardiology, Department of Internal Medicine Yale University New Haven Connecticut USA; 4. Pediatric Radiology, Department of Radiology University of California Irvine California USA; 5. Gandhi Lincoln Hospital Deesa Gujarat India; 6. Ambry Genetics Aliso Viejo California USA; 7. Department of Neurology University of California Irvine California USA; 8. Department of Pathology University of California Irvine California USA

作者Pamela Veale; Christopher Tiessen; Vithya Gnanakumar

作者单位1. Department of Pediatrics, Cumming School of Medicine University of Calgary Calgary Alberta Canada; 2. Department of Biomedical Engineering, Schulich School of Engineering University of Calgary Calgary Alberta Canada; 3. Department of Clinical Neurosciences and Pediatrics, Cumming School of Medicine University of Calgary Calgary Alberta Canada

作者Alice Porto Vasconcelos; Liliana Rocha; Susana Fernandes; João Paulo Oliveira

作者单位1. Service of Human Genetics São João University Hospital Centre Porto Portugal; 2. i3S ‐ Institute for Research and Innovation in Health, University of Porto Porto Portugal; 3. Unit of Genetics, Department of Pathology, Faculty of Medicine University of Porto Porto Portugal

作者Elifcan Taşdelen; Umut Can Tekbaş; Abdulkerim Kolkıran; Semra Çetinkaya; Mustafa Kılıç; Abdullah Sezer

作者单位1. Department of Medical Genetics Ankara Etlik City Hospital Ankara Turkiye; 2. Department of Pediatric Genetics Ankara Etlik City Hospital Ankara Turkiye; 3. Department of Pediatric Endocrinology Dr. Sami Ulus Obstetrics and Gynecology, Children's Health and Diseases Training and Research Hospital Ankara Turkiye; 4. Department of Pediatric Metabolism Ankara Etlik City Hospital, University of Health Sciences Ankara Turkiye

作者Albin Blanc; Christophe Nemos; Céline Bonnet; Mathilde Renaud; Sandra Chapuis; Pauline Boiroux; Marie‐Noëlle Babinet; Caroline Demily

作者单位1. Service de génétique Clinique CHRU de Nancy Nancy France; 2. Université de Lorraine Nancy France; 3. Laboratoire de fœtopathologie et de Placentologie CHRU Nancy Nancy France; 4. Département D'histologie, Embryologie et cytogénétique, Faculté de médecine Université de Lorraine Nancy France; 5. Département de Génie Biologique Santé, IUT Nancy‐Brabois Université de Lorraine Nancy France; 6. Université de Lorraine INSERM UMR_S1256, NGERE Nancy France; 7. Laboratoire de génétique médicale CHRU Nancy Nancy France; 8. Service de Neurologie CHRU de Nancy Nancy France; 9. GénoPsy, Centre de Référence Maladies Rares—Troubles du Comportement D'origine Génétique (CRMR Coordonnateur), Le Vinatier Psychiatrie Universitaire Lyon Métropole Bron France; 10. UMR 5229, CNRS & Université Claude Bernard Lyon 1 Bron France

作者Jeremy J. Pomeroy; Jesse Richards; Brooke R. Sweeney; Seema Kumar; Katie E. Queen; Joshua Zaritsky; Carl H. Cramer; Elias I. Traboulsi; Brittni A. Scruggs; Erica E. Davis; Ekaterina Keifer; Emma McGibbon; Timothy Ogden; Bendert De Graaf; Tonia Hymers; Elizabeth Forsythe; Philip Beales

作者单位1. Marshfield Clinic Research Institute Marshfield Wisconsin USA; 2. Department of Internal Medicine University of Oklahoma School of Community Medicine Tulsa Oklahoma USA; 3. Children's Mercy Kansas City, Center for Children's Healthy Lifestyles & Nutrition Kansas City Missouri USA; 4. Division of Pediatric Endocrinology, Department of Pediatric and Adolescent Medicine Mayo Clinic Rochester Minnesota USA; 5. Our Lady of the Lake Children's Health Weight and Nutrition Center Baton Rouge Louisiana USA; 6. Department of Nephrology Phoenix Children's Hospital Phoenix Arizona USA; 7. Division of Pediatric Nephrology and Hypertension, Department of Pediatric and Adolescent Medicine Mayo Clinic Rochester Minnesota USA; 8. Cole Eye Institute, Cleveland Clinic Cleveland Ohio USA; 9. Department of Ophthalmology and Department of Pediatrics Mayo Clinic Rochester Minnesota USA; 10. Stanley Manne Children's Research Institute, Ann & Robert H. Lurie Children's Hospital of Chicago Chicago Illinois USA; 11. Department of Pediatrics, Cell and Developmental Biology Fienberg School of Medicine, Northwestern University Chicago Illinois USA; 12. Wolfson Neurodisability Service, Great Ormand Street Hospital NHS Foundation Trust London UK; 13. Bardet Biedl Syndrome Foundation Unionville Pennsylvania USA; 14. Bardet‐Biedl Stichting Kampen the Netherlands; 15. Bardet‐Biedl Syndrome UK Essex UK; 16. Clinical Genetics Department Guys and St. Thomas' Hospitals London UK; 17. National Bardet‐Biedl Syndrome Clinics, Great Ormond Street Hospital London UK; 18. Genetics and Genomic Medicine Programme, University College London Great Ormond Street Institute of Child Health London UK

作者Nicholas A. Borja; Mustafa Tekin

作者单位1. John T. Macdonald Foundation Department of Human Genetics University of Miami Miller School of Medicine Miami Florida USA; 2. John P. Hussman Institute for Human Genomics University of Miami Miller School of Medicine Miami Florida USA

作者Emiy Yokoyama‐Rebollar; Camilo E. Villarroel; Tania Barragán‐Arévalo; Oscar Francisco Chacón‐Camacho; Diana Cristina Orozco‐Ávila; Paula Leal‐Anaya; Victoria del Castillo‐Ruiz; Juan Carlos Zenteno

作者单位1. Human Genetics Department National Institute of Pediatrics Mexico City Mexico; 2. Genetics Department Hospital Infantil de México “Federico Gómez” Mexico City Mexico; 3. Department of Genetics Institute of Ophthalmology “Conde de Valenciana” Mexico City Mexico; 4. Laboratorio 5‐Genética, Edificio 4‐A, Carrera de Médico Cirujano, Facultad de Estudios Superiores Iztacala UNAM Mexico City Mexico; 5. Rare Diseases Diagnostic Unit and Department of Biochemistry, Faculty of Medicine UNAM Mexico City Mexico