EUROPEAN JOURNAL OF HUMAN GENETICS

AuthorsEleanor Roberts; Nicola Flaum; D. Gareth Evans

Affiliations1. Division of Cancer Sciences, School of Medical Sciences, Faculty of Biology, Medicine and Health, The University of Manchester, Manchester, UK; 2. Manchester Breast Centre, The Christie, Manchester, UK; 3. Manchester Centre for Genomic Medicine, St Mary’s Hospital, Manchester Academic Health Centre (MAHSC), Division of Evolution, Infection and Genomic Sciences, University of Manchester, Manchester, UK; 4. Prevent Breast Cancer Prevention Centre, University Hospital of South Manchester NHS Trust, Manchester, UK; 5. Manchester Centre for Genomic Medicine, St Mary’s Hospital, Central Manchester University Hospitals NHS Foundation Trust, Manchester, UK

AuthorsLaura Piñero-Roig

Affiliations1. MD Student, Faculty of Medicine, Universitat de Barcelona, Barcelona, Spain

AuthorsAlejandra Rezqallah; Mara Cruellas; Judith Balmaña

Affiliations1. Hereditary Cancer Genetics Group, Medical Oncology Department, University Hospital Vall d’Hebron and Vall d’Hebron Institute of Oncology, Barcelona, Spain; 2. Hereditary Cancer Unit, Medical Oncology Department, University Hospital Lozano Blesa / Instituto de Investigación Sanitaria de Aragón, Zaragoza, Spain

AuthorsMatthias De Wachter; Mathijs B. van der Lei; Amber Decleve; Kevin De Man; Ellen Elinck; An-Sofie Schoonjans; Evan Gouy; Louis Januel; Pauline Monin; Audrey Labalme; Amelle Shillington; Himanshu Goel; Juliet P. Taylor; Katherine Neas; David A. Koolen; Francois Lecoquierre; Alice Goldenberg; Theresa Brunet; Melanie Brugger; Minjie Luo; Magdalena Krygier; Maria Mazurkiewicz-Bełdzińska; Manon Degoutin; Claire Beneteau; Cyril Goizet; David D. Weaver; Emily G. Farrow; Angela Lee; Randi N. Gadea; Berten Ceulemans; Peter A. M. de Witte; Daniëlle Copmans; Anna C. Jansen; R. Frank Kooy

Affiliations1. Department of Pediatric Neurology, Antwerp University Hospital, University of Antwerp, Edegem, Belgium; 2. Department of Medical Genetics, University of Antwerp, Antwerp, Belgium; 3. Laboratory for Molecular Biodiscovery, Department of Pharmaceutical and Pharmacological Sciences, KU Leuven, Leuven, Belgium; 4. Leuven Childhood Epilepsy Center, Leuven Brain Institute, KU Leuven, UZ Leuven, Leuven, Belgium; 5. Research on Healthcare Performance Reshape, INSERM U1290, Université Claude Bernard Lyon 1, Lyon, France; 6. Hospices Civils de Lyon, Service de Génétique, Lyon, France; 7. Cincinnati Children’s Medical Center, Cincinnati, USA; 8. School of Medicine and Public Health, University of Newcastle, Callaghan, Australia; 9. Genetic Health Service NZ (North), Auckland, New Zealand; 10. Genetic Health Service NZ, Wellington South, New Zealand; 11. Department of Human Genetics, Radboud University Medical Center, 6500 HB Nijmegen, The Netherlands, Donders Institute for Brain, Cognition and Behaviour, Nijmegen, The Netherlands; 12. Hospitalo-Universitaire, CHU de Rouen, Rouen, France; 13. Institute of Human Genetics, School of Medicine and Health, Technical University of Munich, Munich, Germany; 14. Division of Genomic Diagnostics, Department of Pathology and Laboratory Medicine, Children’s Hospital of Philadelphia, Philadelphia, USA; 15. Department of Pathology and Laboratory Medicine, The Perelman School of Medicine at the University of Pennsylvania, Philadelphia, USA; 16. Department of Developmental Neurology, Medical University of Gdańsk, Gdańsk, Poland; 17. CHU Bordeaux, Service de Génétique Médicale, Bordeaux, France; 18. Department of Medical and Molecular Genetics, Indiana University School of Medicine, Indianapolis, USA; 19. Clinical Genetics and Genomics Laboratory, Pathology and Laboratory Medicine, Children’s Mercy Kansas City, Kansas City, USA; 20. Department of Translational Neurosciences, University of Antwerp, Antwerp, Belgium

AuthorsBikiran Behera; Charlotta Ingvoldstad Malmgren; Eva Åström; Lyn S. Chitty; Belinda Crowe; Anna L. David; Catherine DeVile; Oliver Semler; Magnus Westgren; Cecilia Götherström; Melissa Hill

Affiliations1. BSc Paediatrics and Child Health, UCL Great Ormond Street Institute of Child Health, London, UK; 2. Center for Research Ethics and Bioethics, Uppsala University, Uppsala, Sweden; 3. Center for Fetal Medicine, Karolinska University Hospital, Stockholm, Sweden; 4. Department of Molecular Medicine and Surgery, Karolinska Institutet, Stockholm, Sweden; 5. Department of Women’s and Children’s Health, Karolinska Institutet, Stockholm, Sweden; 6. Astrid Lindgren Children’s Hospital, Karolinska University Hospital, Stockholm, Sweden; 7. North Thames Genomic Laboratory Hub, Great Ormond Street Hospital for Children NHS Foundation Trust, London, UK; 8. Genetics and Genomic Medicine, UCL Great Ormond Street Institute of Child Health, London, UK; 9. Department of Neurosciences, Great Ormond Street Hospital for Children NHS Foundation Trust, London, UK; 10. Elizabeth Garrett Anderson Institute for Women’s Health, University College London, London, UK; 11. NIHR University College London Hospitals Biomedical Research Centre, London, UK; 12. Department of Pediatrics, University Hospital Cologne, Koln, Germany; 13. Department of Clinical Science, Intervention and Technology, Karolinska Institutet, Stockholm, Sweden; 14. Department of Gynecology and Reproductive Medicine, Karolinska University Hospital, Stockholm, Sweden

AuthorsAnkur Chaurasia; Anju Shukla; Shruti Pande; Greeshma Purushothama; Akhil Kanathay Ashokan; Purvi Majethia; Namanpreet Kaur; Priyanka Upadhyai; Neha Quadri; Gandham SriLakshmi Bhavani; Dhanya Lakshmi Narayanan; Shalini S. Nayak; Sheela Nampoothiri; Ataf H. Sabir; Alaa A. Mohammed; Sophie Shaw; Verity L. Hartill; Christopher M. Watson; Colin A. Johnson; Afrah Alshammari; Andrew E. Fry; James A. Poulter; William G. Newman; Paul R. Kasher; Siddharth Banka; Katta M. Girisha

Affiliations1. Department of Medical Genetics, Kasturba Medical College, Manipal, Manipal Academy of Higher Education, Manipal, India; 2. Division of Evolution, Infection and Genomics, School of Biological Sciences, Faculty of Biology, Medicine and Health, The University of Manchester, Manchester, UK; 3. Department of Paediatric Genetics, Amrita Institute of Medical Sciences & Research Centre, Cochin, India; 4. West Midlands Clinical Genetics Unit, Birmingham Women’s and Children’s NHS Foundation Trust, Birmingham, UK; 5. Department of Cancer and Genomic Sciences, College of Medicine and Health, University of Birmingham, Birmingham, UK; 6. West Midlands Genomics Laboratory, Birmingham Women’s and Children’s NHS Foundation Trust, Birmingham, UK; 7. All Wales Medical Genomics Service, Wales Genomic Health Centre, Cardiff, UK; 8. Division of Molecular Medicine, Leeds Institute of Medical Research, University of Leeds, Leeds, UK; 9. Leeds Clinical Genomics Service, Chapel Allerton Hospital, Leeds, UK; 10. Yorkshire and North East Genomic Laboratory Hub, Central Lab, St. James’s University Hospital, Leeds, UK; 11. Department of Biology, College of Science, University of Hafr Al-Batin, Hafr Al-Batin, Saudi Arabia; 12. Division of Cancer and Genetics, Cardiff University, Cardiff, UK; 13. Manchester Centre for Genomic Medicine, St Mary’s Hospital, Health Innovation Manchester, Manchester University NHS Foundation Trust, Manchester, UK; 14. Division of Neuroscience, School of Biological Sciences, Faculty of Biology, Medicine and Health, Manchester Academic Health Science Centre, The University of Manchester, Manchester, UK; 15. Geoffrey Jefferson Brain Research Centre, Manchester Academic Health Science Centre, Northern Care Alliance NHS Foundation Trust and University of Manchester, Manchester, UK; 16. Department of Genetics, College of Medicine and Health Sciences, Sultan Qaboos University, Muscat, Oman

AuthorsClément Hersent; Lise Larrieu; Patricia Fergelot; Julie Miro; Mehdi Benkirane; Chloé Angelini; Francis Ramond; Cecilia Marelli; Isabelle Sabatier; Gaëtan Lesca; Christel Vaché; Mireille Cossée; Anne Bergougnoux; Klaus Dieterich; Christine Tranchant; Isabelle Marey; Anna Castrioto; Christel Thauvin-Robinet; Lydia Abou Haidar; François Rivier; Sylvie Tuffery-Giraud; Michel Koenig

Affiliations1. Laboratoire de Génétique Moléculaire de Maladies Rares, Site Unique de Biologie, CHU de Montpellier, Montpellier, France; 2. PhyMedExp, Univ Montpellier, CNRS, INSERM, Montpellier, France; 3. Neurogenetics Reference Centre, Department of Medical Genetics, Bordeaux University Hospital, Bordeaux, France; 4. Department of Medical Genetics, Laboratory of Genomics Medicine, Sorbonne University, Hôpital de la Pitié-Salpêtrière, Assistance Publique- Hôpitaux de Paris (AP-HP), Paris, France; 5. Department of Medical Genetics, CHU of Saint-Etienne, Saint-Etienne, France; 6. MMDN, Université de Montpellier, EPHE, INSERM, Montpellier, France; 7. Expert Center for Neurogenetic Diseases, CHU de Montpellier, Montpellier, France; 8. Department of Pediatric Neurology, University Hospitals of Lyon, Lyon, France; 9. Department of Medical Genetics, University Hospitals of Lyon and Université Claude Bernard Lyon1, Lyon, France; 10. Department of Medical Genetics, CHU de Grenoble, Grenoble, Université Grenoble Alpes, INSERM U 1209, CNRS UMR 5309, Institut for Advanced Biosciences, Grenoble, France; 11. Department of Neurology, Hôpitaux Universitaires de Strasbourg, Strasbourg; Institut de Génétique et de Biologie Moléculaire et Cellulaire (IGBMC), INSERM-U964/CNRS-UMR7104/Université de Strasbourg, Illkirch, France; 12. Grenoble Institute of Neurosciences, Grenoble Alpes University Hospital Center, Inserm, U1216, Grenoble Alpes University, Grenoble, France; 13. Université de Bourgogne Europe, CHU Dijon Bourgogne, Centre de Génétique, Centre de Référence Maladies Rares Neurogène, INSERM, CTM UMR 1231, GAD, Dijon, France; 14. Department of Pediatric Neurology and Reference Center for Neuromuscular Diseases AOC, Gui de Chauliac Hospital, CHU de Montpellier, Montpellier, France

AuthorsKazuyuki Komatsu; Atsushi Sugie; Yohei Nitta; Jiro Osaka; Ummul Halilunnisa Mansoor Hussain; Mitsuru Kubota; Nobuyuki Shimozawa; Melissa T. Carter; Petra J. G. Zwijnenburg; Quinten Waisfisz; Felix Boschann; Denise Horn; Mitsuko Nakashima; Hirotomo Saitsu

Affiliations1. Department of Biochemistry, Hamamatsu University School of Medicine, Hamamatsu, Japan; 2. Brain Research Institute, Niigata University, Niigata, Japan; 3. Department of General Pediatrics and Interdisciplinary Medicine, National Center for Child Health and Development, Tokyo, Japan; 4. Division of Genomics Research, Life Science Research Center, Gifu University, Gifu, Japan; 5. Department of Genetics, Children’s Hospital of Eastern Ontario, University of Ottawa, Ottawa, Canada; 6. Department of Clinical Genetics, Emma Children’s Hospital, Amsterdam University Medical Centers, University of Amsterdam, Amsterdam, The Netherlands; 7. Institute of Medical Genetics and Human Genetics, Charité – Universitätsmedizin Berlin, corporate member of Freie Universität Berlin and Humboldt-Universität zu Berlin, Berlin, Germany; 8. Berlin Institute of Health at Charité – Universitätsmedizin Berlin, Berlin, Germany; 9. Berlin Institute of Health at Charité - Universitätsmedizin Berlin, BIH Biomedical Innovation Academy, BIH Charité Clinician Scientist Program, Berlin, Germany

AuthorsYeseul Kim; Joowon Jang; Kyeong Seon Ryu; Jong-Hee Chae; Jung Min Ko; Man Jin Kim; Seungbok Lee; Jangsup Moon; Jin Sook Lee; Hoyeon Lee; Sung Im Cho; Seung Won Chae; Hansol Lim; Hara Lim; Hobin Sung; Seonhoo Youn; Hyesu Lee; Jee-Soo Lee; Moon-Woo Seong

Affiliations1. Department of Laboratory Medicine, Seoul National University Hospital, Seoul National University College of Medicine, Seoul, Korea; 2. Department of Genomic Medicine, Seoul National University Hospital, Seoul, Korea; 3. Department of Pediatrics, Seoul National University Children’s Hospital, Seoul, Korea; 4. Department of Neurology, Seoul National University Hospital, Seoul, Korea; 5. Cancer Research Institute, Seoul National University College of Medicine, Seoul, Korea

AuthorsWeijia Fu; Joseph H. Rothstein; Olle Melander; Hans Lilja; Weiva Sieh; Xiaoyu Song; Robert J. Klein

Affiliations1. Tisch Cancer Institute, Icahn School of Medicine at Mount Sinai, New York, USA; 2. Department of Genetics and Genomic Sciences, Icahn School of Medicine at Mount Sinai, New York, USA; 3. Department of Epidemiology, MD Anderson Cancer Center, Houston, USA; 4. Department of Clinical Sciences, Lund University, Malmö, Sweden; 5. Department of Internal Medicine, Skåne University Hospital, Malmö, Sweden; 6. Departments of Pathology and Laboratory Medicine, Surgery (Urology Service), and Medicine (GU-Oncology Service), Memorial Sloan Kettering Cancer Center, New York, USA; 7. Department of Translational Medicine, Lund University, Malmö, Sweden; 8. Centre for Biomedical Data Science, Duke-NUS Medical School, National University of, Singapore, Singapore