부산대학교 도서관

Drost M; Department of Clinical Genetics, Erasmus MC, University Medical Center Rotterdam, PO Box 2040, 3000 Rotterdam, the Netherlands.; Dekker J; Department of Clinical Genetics, Erasmus MC, University Medical Center Rotterdam, PO Box 2040, 3000 Rotterdam, the Netherlands.; Ferraro F; Department of Clinical Genetics, Erasmus MC, University Medical Center Rotterdam, PO Box 2040, 3000 Rotterdam, the Netherlands.; Kasteleijn E; Department of Clinical Genetics, Erasmus MC, University Medical Center Rotterdam, PO Box 2040, 3000 Rotterdam, the Netherlands.; Verschuren M; Department of Clinical Genetics, Erasmus MC, University Medical Center Rotterdam, PO Box 2040, 3000 Rotterdam, the Netherlands.; Kroon E; Department of Clinical Genetics, Erasmus MC, University Medical Center Rotterdam, PO Box 2040, 3000 Rotterdam, the Netherlands.; Douben HCW; Department of Clinical Genetics, Erasmus MC, University Medical Center Rotterdam, PO Box 2040, 3000 Rotterdam, the Netherlands.; Vogt I; Department of Clinical Genetics, Erasmus MC, University Medical Center Rotterdam, PO Box 2040, 3000 Rotterdam, the Netherlands.; van Unen L; Department of Clinical Genetics, Erasmus MC, University Medical Center Rotterdam, PO Box 2040, 3000 Rotterdam, the Netherlands.; Hoogeveen-Westerveld M; Department of Clinical Genetics, Erasmus MC, University Medical Center Rotterdam, PO Box 2040, 3000 Rotterdam, the Netherlands.; Elfferich P; Department of Clinical Genetics, Erasmus MC, University Medical Center Rotterdam, PO Box 2040, 3000 Rotterdam, the Netherlands.; Schot R; Department of Clinical Genetics, Erasmus MC, University Medical Center Rotterdam, PO Box 2040, 3000 Rotterdam, the Netherlands.; Calandrini C; Department of Clinical Genetics, Erasmus MC, University Medical Center Rotterdam, PO Box 2040, 3000 Rotterdam, the Netherlands.; Korpershoek E; Department of Clinical Genetics, Erasmus MC, University Medical Center Rotterdam, PO Box 2040, 3000 Rotterdam, the Netherlands.; Sleutels F; Department of Clinical Genetics, Erasmus MC, University Medical Center Rotterdam, PO Box 2040, 3000 Rotterdam, the Netherlands.; Brüggenwirth HBR; Department of Clinical Genetics, Erasmus MC, University Medical Center Rotterdam, PO Box 2040, 3000 Rotterdam, the Netherlands.; Hollink IR; Department of Clinical Genetics, Erasmus MC, University Medical Center Rotterdam, PO Box 2040, 3000 Rotterdam, the Netherlands.; Meerstein-Kessel L; Department of Clinical Genetics, Erasmus MC, University Medical Center Rotterdam, PO Box 2040, 3000 Rotterdam, the Netherlands.; Hoefsloot LH; Department of Clinical Genetics, Erasmus MC, University Medical Center Rotterdam, PO Box 2040, 3000 Rotterdam, the Netherlands.; van Slegtenhorst M; Department of Clinical Genetics, Erasmus MC, University Medical Center Rotterdam, PO Box 2040, 3000 Rotterdam, the Netherlands.; Wilke M; Department of Clinical Genetics, Erasmus MC, University Medical Center Rotterdam, PO Box 2040, 3000 Rotterdam, the Netherlands.; Weerts MJA; Department of Clinical Genetics, Erasmus MC, University Medical Center Rotterdam, PO Box 2040, 3000 Rotterdam, the Netherlands.; van Minkelen R; Department of Clinical Genetics, Erasmus MC, University Medical Center Rotterdam, PO Box 2040, 3000 Rotterdam, the Netherlands.; Wagner A; Department of Clinical Genetics, Erasmus MC, University Medical Center Rotterdam, PO Box 2040, 3000 Rotterdam, the Netherlands; Erasmus MC Cancer Institute, Erasmus University Medical Center Rotterdam, Rotterdam, the Netherlands.; Bouman A; Department of Clinical Genetics, Erasmus MC, University Medical Center Rotterdam, PO Box 2040, 3000 Rotterdam, the Netherlands.; van Paassen BW; Department of Clinical Genetics, Erasmus MC, University Medical Center Rotterdam, PO Box 2040, 3000 Rotterdam, the Netherlands.; Verheijen-Mancini GM; Department of Clinical Genetics, Erasmus MC, University Medical Center Rotterdam, PO Box 2040, 3000 Rotterdam, the Netherlands.; van de Laar IMBH; Department of Clinical Genetics, Erasmus MC, University Medical Center Rotterdam, PO Box 2040, 3000 Rotterdam, the Netherlands.; Kievit AJA; Department of Clinical Genetics, Erasmus MC, University Medical Center Rotterdam, PO Box 2040, 3000 Rotterdam, the Netherlands.; Verhagen JMA; Department of Clinical Genetics, Erasmus MC, University Medical Center Rotterdam, PO Box 2040, 3000 Rotterdam, the Netherlands.; Stuurman KE; Department of Clinical Genetics, Erasmus MC, University Medical Center Rotterdam, PO Box 2040, 3000 Rotterdam, the Netherlands.; Donker Kaat L; Department of Clinical Genetics, Erasmus MC, University Medical Center Rotterdam, PO Box 2040, 3000 Rotterdam, the Netherlands.; van Dooren MF; Department of Clinical Genetics, Erasmus MC, University Medical Center Rotterdam, PO Box 2040, 3000 Rotterdam, the Netherlands.; Wessels MW; Department of Clinical Genetics, Erasmus MC, University Medical Center Rotterdam, PO Box 2040, 3000 Rotterdam, the Netherlands.; Oldenburg RA; Department of Clinical Genetics, Erasmus MC, University Medical Center Rotterdam, PO Box 2040, 3000 Rotterdam, the Netherlands.; Zeidler S; Department of Clinical Genetics, Erasmus MC, University Medical Center Rotterdam, PO Box 2040, 3000 Rotterdam, the Netherlands.; van Dijk T; Department of Clinical Genetics, Erasmus MC, University Medical Center Rotterdam, PO Box 2040, 3000 Rotterdam, the Netherlands.; Barakat TS; Department of Clinical Genetics, Erasmus MC, University Medical Center Rotterdam, PO Box 2040, 3000 Rotterdam, the Netherlands.; Verhoeven VJM; Department of Clinical Genetics, Erasmus MC, University Medical Center Rotterdam, PO Box 2040, 3000 Rotterdam, the Netherlands.; van Bever Y; Department of Clinical Genetics, Erasmus MC, University Medical Center Rotterdam, PO Box 2040, 3000 Rotterdam, the Netherlands.; van Ierland Y; Department of Clinical Genetics, Erasmus MC, University Medical Center Rotterdam, PO Box 2040, 3000 Rotterdam, the Netherlands.; Bannink N; Department of Pediatrics, Franciscus Gasthuis & Vlietland, Rotterdam, the Netherlands.; van Koningsbruggen S; Department of Human Genetics, Amsterdam University Medical Center, Amsterdam, the Netherlands.; Lakeman P; Department of Human Genetics, Amsterdam University Medical Center, Amsterdam, the Netherlands.; Leeuwen L; Department of Genetics, University Medical Center Groningen, Groningen, the Netherlands.; Verbeek NE; Department of Medical Genetics, University Medical Center Utrecht, Utrecht, the Netherlands.; Sinnema M; Department of Clinical Genetics, Maastricht University Medical Center, Maastricht, the Netherlands.; Heijligers M; Department of Clinical Genetics, Maastricht University Medical Center, Maastricht, the Netherlands.; van Asperen CJ; Department of Clinical Genetics, Leiden University Medical Center, Leiden, the Netherlands.; Saris JJ; Department of Clinical Genetics, Erasmus MC, University Medical Center Rotterdam, PO Box 2040, 3000 Rotterdam, the Netherlands.; Nellist M; Department of Clinical Genetics, Erasmus MC, University Medical Center Rotterdam, PO Box 2040, 3000 Rotterdam, the Netherlands.; van Ham TJ; Department of Clinical Genetics, Erasmus MC, University Medical Center Rotterdam, PO Box 2040, 3000 Rotterdam, the Netherlands. Electronic address: t.vanham@erasmusmc.nl.

Publisher: Elsevier Inc Country of Publication: United States NLM ID: 101772885 Publication Model: Print-Electronic Cited Medium: Internet ISSN: 2666-2477 (Electronic) Linking ISSN: 26662477 NLM ISO Abbreviation: HGG Adv Subsets: MEDLINE

Quinodoz M; Ophthalmic Genetics Group, Institute of Molecular and Clinical Ophthalmology Basel (IOB), Basel, Switzerland.; Department of Ophthalmology, University of Basel, Basel, Switzerland.; Department of Genetics, Genomics and Cancer Sciences, University of Leicester, Leicester, UK.; Rodenburg K; Department of Human Genetics, Radboud University Medical Center, Nijmegen, the Netherlands.; Cvackova Z; Laboratory of RNA Biology, Institute of Molecular Genetics of the Czech Academy of Sciences, Prague, Czech Republic.; Kaminska K; Ophthalmic Genetics Group, Institute of Molecular and Clinical Ophthalmology Basel (IOB), Basel, Switzerland.; Department of Ophthalmology, University of Basel, Basel, Switzerland.; de Bruijn SE; Department of Human Genetics, Radboud University Medical Center, Nijmegen, the Netherlands.; Department of Otorhinolaryngology, Hearing & Genes, Radboud University Medical Center, Nijmegen, the Netherlands.; Iglesias-Romero AB; Ophthalmic Genetics Group, Institute of Molecular and Clinical Ophthalmology Basel (IOB), Basel, Switzerland.; Department of Ophthalmology, University of Basel, Basel, Switzerland.; Boonen EGM; Department of Human Genetics, Radboud University Medical Center, Nijmegen, the Netherlands.; The Rotterdam Eye Hospital, Rotterdam Ophthalmic Institute, Rotterdam, the Netherlands.; Ullah M; Ophthalmic Genetics Group, Institute of Molecular and Clinical Ophthalmology Basel (IOB), Basel, Switzerland.; Zomer N; Department of Human Genetics, Radboud University Medical Center, Nijmegen, the Netherlands.; Folcher M; Ophthalmic Genetics Group, Institute of Molecular and Clinical Ophthalmology Basel (IOB), Basel, Switzerland.; Department of Ophthalmology, University of Basel, Basel, Switzerland.; Bijon J; Vitreous Retina Macula Consultants of New York, New York, NY, USA.; Department of Ophthalmology, Rothschild Foundation Hospital, Paris, France.; Holtes LK; Department of Human Genetics, Radboud University Medical Center, Nijmegen, the Netherlands.; Tsang SH; Departments of Ophthalmology, Pathology & Cell Biology, Columbia Stem Cell Initiative, Vagelos College of Physicians and Surgeons Columbia University Irving Medical Center, New York, NY, USA.; Edward S. Harkness Eye Institute, Jonas Children's Vision Care (JCVC), Columbia University Irving Medical Center, New York-Presbyterian Hospital, New York, NY, USA.; Corradi Z; Department of Human Genetics, Radboud University Medical Center, Nijmegen, the Netherlands.; Freund KB; Vitreous Retina Macula Consultants of New York, New York, NY, USA.; Department of Ophthalmology, NYU Grossman School of Medicine, New York, NY, USA.; Shliaga S; Department of Human Genetics, Radboud University Medical Center, Nijmegen, the Netherlands.; Panneman DM; Department of Human Genetics, Radboud University Medical Center, Nijmegen, the Netherlands.; Hitti-Malin RJ; Department of Human Genetics, Radboud University Medical Center, Nijmegen, the Netherlands.; Ali M; Division of Molecular Medicine, Leeds Institute of Medical Research, School of Medicine, University of Leeds, Leeds, UK.; AlTalbishi A; Molecular Biology Research Unit, St John Eye Hospital Group, Jerusalem, Palestine.; Andréasson S; Department of Ophthalmology, University Hospital of Lund, Lund, Sweden.; Ansari G; Department of Ophthalmology, University of Basel, Basel, Switzerland.; Arno G; JC Self Research Institute, Greenwood Genetic Center, Greenwood, SC, USA.; UCL Institute of Ophthalmology, University College London, London, UK.; National Institute of Health Research Biomedical Research Centre, Moorfields Eye Hospital, London, UK.; Astuti GDN; Department of Human Genetics, Radboud University Medical Center, Nijmegen, the Netherlands.; Ayuso C; Department of Genetics & Genomics, Instituto de Investigación Sanitaria-Fundación Jiménez Díaz University Hospital, Universidad Autónoma de Madrid (IIS-FJD, UAM), Madrid, Spain.; Center for Biomedical Network Research on Rare Diseases (CIBERER), Instituto de Salud Carlos III, Madrid, Spain.; Ayyagari R; Department of Ophthalmology, Shiley Eye Institute, University of California San Diego, La Jolla, CA, USA.; Banfi S; Medical Genetics, Department of Precision Medicine, University of Campania 'Luigi Vanvitelli', Naples, Italy.; Genomic Medicine, Telethon Institute of Genetics and Medicine, Pozzuoli, Italy.; Banin E; Hadassah Medical Center, Division of Ophthalmology, The Hebrew University of Jerusalem, Jerusalem, Israel.; Barakat TS; Department of Clinical Genetics, Erasmus MC University Medical Center, Rotterdam, the Netherlands.; Barboni MTS; Department of Ophthalmology, Semmelweis University, Budapest, Hungary.; Bauwens M; Center for Medical Genetics, Ghent University Hospital, Ghent, Belgium.; Department of Biomolecular Medicine, Ghent University, Ghent, Belgium.; Ben-Yosef T; Rappaport Faculty of Medicine, Technion-Israel Institute of Technology, Haifa, Israel.; Bernard V; GCS Auragen, Plan France Medecine Genomique, Lyon, France.; Birch DG; Retina Foundation of the Southwest, Dallas, TX, USA.; Biswas P; Department of Ophthalmology, Shiley Eye Institute, University of California San Diego, La Jolla, CA, USA.; Blanco-Kelly F; Department of Genetics & Genomics, Instituto de Investigación Sanitaria-Fundación Jiménez Díaz University Hospital, Universidad Autónoma de Madrid (IIS-FJD, UAM), Madrid, Spain.; Center for Biomedical Network Research on Rare Diseases (CIBERER), Instituto de Salud Carlos III, Madrid, Spain.; Bocquet B; Institute for Neurosciences of Montpellier (INM), Montpellier University, INSERM, Montpellier, France.; National Reference Centre for Inherited Sensory Diseases, University of Montpellier, Montpellier University Hospital, Montpellier, France.; Boon CJF; Department of Ophthalmology, Leiden University Medical Center (LUMC), Leiden, the Netherlands.; Department of Ophthalmology, Amsterdam University Medical Center, Amsterdam, the Netherlands.; Branham K; Department of Ophthalmology and Human Genetics, University of Michigan, Ann Arbor, MI, USA.; Bremond-Gignac D; Department of Ophthalmology, University Hospital Necker Enfants Malades, APHP, Paris Cité University, Paris, France.; UMRS1138, Centre de Recherche des Cordeliers, Université Paris Cité, INSERM, Paris, France.; Britten-Jones AC; Department of Optometry and Vision Sciences, The University of Melbourne, Melbourne, Victoria, Australia.; Bujakowska KM; Ocular Genomics Institute, Massachusetts Eye and Ear, Harvard Medical School, Boston, MA, USA.; Burin des Roziers C; UMRS1138, Centre de Recherche des Cordeliers, Université Paris Cité, INSERM, Paris, France.; Service de Médecine Génomique des Maladies de Système et d'Organe, Hôpital Cochin, AP-HP Centre Université Paris Cité, Paris, France.; Laboratoire de Biologie Médicale SeqOIA, Site Broussais, Paris, France.; Cadena EL; Department of Epidemiology and Human Genetics Center, School of Public Health, University of Texas Health Science Center at Houston, Houston, TX, USA.; Calzetti G; Vista Vision Eye Clinic, Brescia, Italy.; Clinical Translation Group, Institute of Molecular and Clinical Ophthalmology Basel (IOB), Basel, Switzerland.; Cancellieri F; Ophthalmic Genetics Group, Institute of Molecular and Clinical Ophthalmology Basel (IOB), Basel, Switzerland.; Department of Ophthalmology, University of Basel, Basel, Switzerland.; Cattaneo L; Neurogenetics Research Center, IRCCS Mondino Foundation, Pavia, Italy.; Chadderton N; Institute of Genetics, School of Genetics and Microbiology, Trinity College Dublin, The University of Dublin, Dublin, Ireland.; Charbel Issa P; Department of Ophthalmology, TUM University Hospital, School of Medicine and Health, Technical University of Munich, Munich, Germany.; Oxford Eye Hospital, Oxford University Hospitals NHS Foundation Trust, Oxford, UK.; Coutinho-Santos L; Serviço de Oftalmologia, Instituto de Oftalmologia Dr. Gama Pinto, Lisboa, Portugal.; Daiger SP; Department of Epidemiology and Human Genetics Center, School of Public Health, University of Texas Health Science Center at Houston, Houston, TX, USA.; De Baere E; Center for Medical Genetics, Ghent University Hospital, Ghent, Belgium.; Department of Biomolecular Medicine, Ghent University, Ghent, Belgium.; De Bruyne M; Center for Medical Genetics, Ghent University Hospital, Ghent, Belgium.; Department of Biomolecular Medicine, Ghent University, Ghent, Belgium.; de la Cerda B; Department of Cell Therapy and Regenerative Medicine, Andalusian Molecular Biology and Regenerative Medicine Centre, CABIMER, Seville, Spain.; De Roach JN; Australian Inherited Retinal Disease Registry and DNA Bank, Department of Medical Technology and Physics, Sir Charles Gairdner Hospital, Perth, Western Australia, Australia.; De Zaeytijd J; Department of Head and Skin, Ghent University, Ghent, Belgium.; Department of Ophthalmology, Ghent University Hospital, Ghent, Belgium.; Derks R; Department of Human Genetics, Radboud University Medical Center, Nijmegen, the Netherlands.; Dhaenens CM; Université de Lille, INSERM U1172 - LilNCog - Lille Neuroscience & Cognition, Lille, France.; Dudakova L; Department of Paediatrics and Inherited Metabolic Disorders, First Faculty of Medicine, Charles University and General University Hospital in Prague, Prague, Czech Republic.; Duncan JL; Department of Ophthalmology, University of California, San Francisco, Wayne and Gladys Valley Center for Vision, San Francisco, CA, USA.; Farrar GJ; Institute of Genetics, School of Genetics and Microbiology, Trinity College Dublin, The University of Dublin, Dublin, Ireland.; Feltgen N; Department of Ophthalmology, University of Basel, Basel, Switzerland.; Fenner BJ; Department of Medical Retina, Singapore National Eye Centre, Singapore, Singapore.; Ophthalmology and Visual Sciences Academic Clinical Program, Duke-NUS Graduate Medical School, Singapore, Singapore.; Singapore Eye Research Institute, Singapore, Singapore.; Fernández-Caballero L; Department of Genetics & Genomics, Instituto de Investigación Sanitaria-Fundación Jiménez Díaz University Hospital, Universidad Autónoma de Madrid (IIS-FJD, UAM), Madrid, Spain.; Center for Biomedical Network Research on Rare Diseases (CIBERER), Instituto de Salud Carlos III, Madrid, Spain.; Ferraz Sallum JM; Department of Ophthalmology, Federal University of São Paulo, UNIFESP, São Paulo, Brazil.; Gana S; Neurogenetics Research Center, IRCCS Mondino Foundation, Pavia, Italy.; Garanto A; Department of Human Genetics, Radboud University Medical Center, Nijmegen, the Netherlands.; Department of Pediatrics, Amalia Children's Hospital, Radboud University Medical Center, Nijmegen, the Netherlands.; Gardner JC; UCL Institute of Ophthalmology, University College London, London, UK.; Gilissen C; Department of Human Genetics, Radboud University Medical Center, Nijmegen, the Netherlands.; Gonzàlez-Duarte R; Department of Genetics, Microbiology and Statistics, Faculty of Biology, University of Barcelona, Barcelona, Spain.; Goto K; Department of Ophthalmology, Nagoya University Graduate School of Medicine, Nagoya, Japan.; Griffiths-Jones S; School of Biological Sciences, Division of Evolution, Infection, and Genomics, The University of Manchester, Manchester, UK.; Haack TB; Institute for Medical Genetics and Applied Genomics, University of Tübingen, Institute for Ophthalmic Research, University Hospital Tübingen, Tübingen, Germany.; Center for Rare Disease, University of Tübingen, Tübingen, Germany.; Genomics for Health in Africa (GHA), Africa-Europe Cluster of Research Excellence (CoRE), Ghana, South Africa.; Haer-Wigman L; Department of Human Genetics, Radboud University Medical Center, Nijmegen, the Netherlands.; Hardcastle AJ; UCL Institute of Ophthalmology, University College London, London, UK.; Hayashi T; Department of Ophthalmology, The Jikei University School of Medicine, Minato-ku, Japan.; Héon E; Department of Ophthalmology and Vision Sciences, Ocular Genetics Program, The Hospital for Sick Children, Toronto, Ontario, Canada.; Hoefsloot LH; Department of Clinical Genetics, Erasmus MC University Medical Center, Rotterdam, the Netherlands.; Hoischen A; Department of Human Genetics, Radboud University Medical Center, Nijmegen, the Netherlands.; Department of Internal Medicine, Radboud University Medical Center, Nijmegen, the Netherlands.; Holtan JP; Department of Ophthalmology, Oslo University Hospital, Oslo, Norway.; Hoyng CB; Department of Ophthalmology, Radboud University Medical Center, Nijmegen, the Netherlands.; Ibanez MBB 4th; Department of Ophthalmology, Section of Pediatric Ophthalmology, Strabismus, and Ocular Genetics, DOH Eye Center, East Avenue Medical Center, Quezon City, Philippines.; Section of Pediatric Ophthalmology, Strabismus, and Ocular Genetics, Makati Medical Center, Makati City, Philippines.; Inglehearn CF; Division of Molecular Medicine, Leeds Institute of Medical Research, School of Medicine, University of Leeds, Leeds, UK.; Iwata T; Division of Molecular and Cellular Biology, National Institute of Sensory Organs, NHO Tokyo Medical Center, Tokyo, Japan.; Jensson BO; deCODE genetics, Amgen Inc., Reykjavik, Iceland.; Jones K; Retina Foundation of the Southwest, Dallas, TX, USA.; Kalatzis V; Institute for Neurosciences of Montpellier (INM), Montpellier University, INSERM, Montpellier, France.; National Reference Centre for Inherited Sensory Diseases, University of Montpellier, Montpellier University Hospital, Montpellier, France.; Kamakari S; Department of Inherited Retinal Dystrophies, Ophthalmic Genetics Group, OMMA, Ophthalmological Institute of Athens, Athens, Greece.; Karali M; Medical Genetics, Department of Precision Medicine, University of Campania 'Luigi Vanvitelli', Naples, Italy.; Eye Clinic, Multidisciplinary Department of Medical, Surgical and Dental Sciences, University of Campania 'Luigi Vanvitelli', Naples, Italy.; Kellner U; Center for Rare Retinal Diseases, AugenZentrum Siegburg, MVZ Augenärztliches Diagnostik- und Therapiecentrum Siegburg GmbH, Siegburg, Germany.; Klaver CCW; Department of Ophthalmology, Radboud University Medical Center, Nijmegen, the Netherlands.; Department of Ophthalmology, Erasmus MC University Medical Center, Rotterdam, the Netherlands.; Knézy K; Department of Ophthalmology, Semmelweis University, Budapest, Hungary.; Koenekoop RK; Department of Pediatric Surgery, Division of Pediatric Ophthalmology, Montreal Children's Hospital, McGill University Health Center (MUHC), Montreal, Quebec, Canada.; Kohl S; Institute for Ophthalmic Research, Centre for Ophthalmology, University Hospital Tübingen, Tübingen, Germany.; Kominami T; Department of Ophthalmology, Nagoya University Graduate School of Medicine, Nagoya, Japan.; Kühlewein L; University Eye Hospital, Centre for Ophthalmology, University Hospital Tübingen, Tübingen, Germany.; Lamey TM; Australian Inherited Retinal Disease Registry and DNA Bank, Department of Medical Technology and Physics, Sir Charles Gairdner Hospital, Perth, Western Australia, Australia.; Leibu R; Department of Ophthalmology, Rambam Health Care Campus, Haifa, Israel.; Leroy BP; Center for Medical Genetics, Ghent University Hospital, Ghent, Belgium.; Department of Head and Skin, Ghent University, Ghent, Belgium.; Department of Ophthalmology, Ghent University Hospital, Ghent, Belgium.; Liskova P; Department of Paediatrics and Inherited Metabolic Disorders, First Faculty of Medicine, Charles University and General University Hospital in Prague, Prague, Czech Republic.; Department of Ophthalmology, First Faculty of Medicine, Charles University and General University Hospital in Prague, Prague, Czech Republic.; Lopez I; Department of Pediatric Surgery, Division of Pediatric Ophthalmology, Montreal Children's Hospital, McGill University Health Center (MUHC), Montreal, Quebec, Canada.; López-Rodríguez VRJ; Department of Genetics, Institute of Ophthalmology 'Conde de Valenciana', Mexico City, Mexico.; Mahieu Q; Center for Medical Genetics, Ghent University Hospital, Ghent, Belgium.; Department of Biomolecular Medicine, Ghent University, Ghent, Belgium.; Mahroo OA; UCL Institute of Ophthalmology, University College London, London, UK.; National Institute of Health Research Biomedical Research Centre, Moorfields Eye Hospital, London, UK.; Section of Ophthalmology, King's College London, St. Thomas' Hospital Campus, London, UK.; Department of Physiology, Development and Neuroscience, University of Cambridge, Cambridge, UK.; Manes G; Institute for Neurosciences of Montpellier (INM), Montpellier University, INSERM, Montpellier, France.; Mansard L; GCS Auragen, Plan France Medecine Genomique, Lyon, France.; Institute for Neurosciences of Montpellier (INM), Montpellier University, INSERM, Montpellier, France.; Molecular Genetics Laboratory, Montpellier University, CHU Montpellier, Montpellier, France.; Martín-Gutiérrez MP; Department of Ophthalmology, Fundación Jiménez Díaz University Hospital, Madrid, Spain.; Martins N; Center for Medical Genetics, Ghent University Hospital, Ghent, Belgium.; Department of Biomolecular Medicine, Ghent University, Ghent, Belgium.; Mauring L; Department of Clinical Genetics, Institute of Clinical Medicine, University of Tartu, Tartu, Estonia.; Eye Clinic, Tartu University Hospital, Tartu, Estonia.; Genetics and Personalized Medicine Clinic, Tartu University Hospital, Tartu, Estonia.; McKibbin M; Division of Molecular Medicine, Leeds Institute of Medical Research, School of Medicine, University of Leeds, Leeds, UK.; Department of Ophthalmology, Leeds Teaching Hospitals NHS Trust, St James's University Hospital, Leeds, UK.; McLaren TL; Australian Inherited Retinal Disease Registry and DNA Bank, Department of Medical Technology and Physics, Sir Charles Gairdner Hospital, Perth, Western Australia, Australia.; Meunier I; Institute for Neurosciences of Montpellier (INM), Montpellier University, INSERM, Montpellier, France.; National Reference Centre for Inherited Sensory Diseases, University of Montpellier, Montpellier University Hospital, Montpellier, France.; Michaelides M; UCL Institute of Ophthalmology, University College London, London, UK.; National Institute of Health Research Biomedical Research Centre, Moorfields Eye Hospital, London, UK.; Millán JM; Instituto de Investigación Sanitaria La Fe (IIS La Fe) and CIBERER, Valencia, Spain.; Mizobuchi K; Department of Ophthalmology, The Jikei University School of Medicine, Minato-ku, Japan.; Mukherjee R; Department of Ophthalmology, Leeds Teaching Hospitals NHS Trust, St James's University Hospital, Leeds, UK.; Nagy ZZ; Department of Ophthalmology, Semmelweis University, Budapest, Hungary.; Neveling K; Department of Human Genetics, Radboud University Medical Center, Nijmegen, the Netherlands.; Ołdak M; Department of Histology and Embryology, Medical University of Warsaw, Warsaw, Poland.; Oorsprong M; Department of Human Genetics, Radboud University Medical Center, Nijmegen, the Netherlands.; Pan Y; Division of Molecular and Cellular Biology, National Institute of Sensory Organs, NHO Tokyo Medical Center, Tokyo, Japan.; Papachristou A; Department of Ophthalmology, School of Medicine, University of Crete, Heraklion, Crete, Greece.; Percesepe A; Department of Medicine and Surgery, Medical Genetics, University of Parma, Parma, Italy.; Pfau M; Department of Ophthalmology, University of Basel, Basel, Switzerland.; Pierce EA; Ocular Genomics Institute, Massachusetts Eye and Ear, Harvard Medical School, Boston, MA, USA.; Place E; Ocular Genomics Institute, Massachusetts Eye and Ear, Harvard Medical School, Boston, MA, USA.; Ramesar R; UCT/MRC Precision and Genomic Medicine Research Unit, Division of Human Genetics, Department of Pathology, Institute of Infectious Disease and Molecular Medicine (IDM), Faculty of Health Sciences, University of Cape Town, Cape Town, South Africa.; Ramond F; GCS Auragen, Plan France Medecine Genomique, Lyon, France.; Department of Medical Genetics, Saint-Etienne University Hospital, Saint-Etienne, France.; Rasquin FA; Department of Ophthalmology, HUB-Erasme Hospital, Brussels, Belgium.; Rice GI; School of Biological Sciences, Division of Evolution, Infection, and Genomics, The University of Manchester, Manchester, UK.; Roberts L; UCT/MRC Precision and Genomic Medicine Research Unit, Division of Human Genetics, Department of Pathology, Institute of Infectious Disease and Molecular Medicine (IDM), Faculty of Health Sciences, University of Cape Town, Cape Town, South Africa.; Rodríguez-Hidalgo M; Department of Neuroscience, Biodonostia Health Research Institute, Donostia-San Sebastián, Spain.; Department of Genetic, Physical Anthropology and Animal Physiology, University of the Basque Country (UPV/EHU), Leioa, Spain.; Ruiz-Ederra J; Department of Neuroscience, Biodonostia Health Research Institute, Donostia-San Sebastián, Spain.; Department of Ophthalmology, University of the Basque Country (UPV/EHU), San Sebastián, Spain.; Sabir AH; West Midlands Clinical Genetics Unit, Birmingham Women's and Children's NHS Foundation Trust, Birmingham, UK.; College of Medical and Dental Sciences, University of Birmingham, Birmingham, UK.; Sajiki AF; Department of Ophthalmology, Nagoya University Graduate School of Medicine, Nagoya, Japan.; Sánchez-Barbero AI; Department of Genetics & Genomics, Instituto de Investigación Sanitaria-Fundación Jiménez Díaz University Hospital, Universidad Autónoma de Madrid (IIS-FJD, UAM), Madrid, Spain.; Center for Biomedical Network Research on Rare Diseases (CIBERER), Instituto de Salud Carlos III, Madrid, Spain.; Sarma AS; Hadassah Medical Center, Division of Ophthalmology, The Hebrew University of Jerusalem, Jerusalem, Israel.; Sangermano R; Ocular Genomics Institute, Massachusetts Eye and Ear, Harvard Medical School, Boston, MA, USA.; Santos CM; Serviço de Oftalmologia, Instituto de Oftalmologia Dr. Gama Pinto, Lisboa, Portugal.; iNOVA4Health, NOVA Medical School, Faculdade de Ciências Médicas, NMS, FCM, Universidade NOVA de Lisboa, Lisboa, Portugal.; Scarpato M; Medical Genetics, Department of Precision Medicine, University of Campania 'Luigi Vanvitelli', Naples, Italy.; Scholl HPN; Department of Clinical Pharmacology, Medical University of Vienna, Vienna, Austria.; Pallas Kliniken AG, Pallas Klinik Zürich, Zürich, Switzerland.; European Vision Institute, Basel, Switzerland.; Sharon D; Hadassah Medical Center, Division of Ophthalmology, The Hebrew University of Jerusalem, Jerusalem, Israel.; Signorini SG; Department of Child Neurology and Psychiatry, IRCCS Mondino Foundation, Pavia, Italy.; Simonelli F; Eye Clinic, Multidisciplinary Department of Medical, Surgical and Dental Sciences, University of Campania 'Luigi Vanvitelli', Naples, Italy.; Sousa AB; Department of Medical Genetics, ULS Santa Maria, Lisboa, Portugal.; Laboratory of Basic Immunology, Faculdade de Medicina, Universidade de Lisboa, Lisboa, Portugal.; Stefaniotou M; Department of Ophthalmology, School of Medicine, University of Ioannina, Ioannina, Greece.; Stefansson K; deCODE genetics, Amgen Inc., Reykjavik, Iceland.; Faculty of Medicine, School of Health Sciences, University of Iceland, Reykjavik, Iceland.; Stingl K; University Eye Hospital, Centre for Ophthalmology, University Hospital Tübingen, Tübingen, Germany.; Suga A; Division of Molecular and Cellular Biology, National Institute of Sensory Organs, NHO Tokyo Medical Center, Tokyo, Japan.; Sulem P; 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Publisher: Nature Pub. Co Country of Publication: United States NLM ID: 9216904 Publication Model: Print-Electronic Cited Medium: Internet ISSN: 1546-1718 (Electronic) Linking ISSN: 10614036 NLM ISO Abbreviation: Nat Genet Subsets: MEDLINE

Smits DJ; Department of Clinical Genetics, Erasmus MC, University Medical Center Rotterdam, Rotterdam, the Netherlands.; Ferraro F; Department of Clinical Genetics, Erasmus MC, University Medical Center Rotterdam, Rotterdam, the Netherlands.; Drost M; Department of Clinical Genetics, Erasmus MC, University Medical Center Rotterdam, Rotterdam, the Netherlands.; van der Linde HC; Department of Clinical Genetics, Erasmus MC, University Medical Center Rotterdam, Rotterdam, the Netherlands.; de Graaf BM; Department of Clinical Genetics, Erasmus MC, University Medical Center Rotterdam, Rotterdam, the Netherlands.; van Bever Y; Department of Clinical Genetics, Erasmus MC, University Medical Center Rotterdam, Rotterdam, the Netherlands.; Brooks AS; Department of Clinical Genetics, Erasmus MC, University Medical Center Rotterdam, Rotterdam, the Netherlands.; Bardina L; Department of Clinical Genetics, Erasmus MC, University Medical Center Rotterdam, Rotterdam, the Netherlands.; Brüggenwirth HT; Department of Clinical Genetics, Erasmus MC, University Medical Center Rotterdam, Rotterdam, the Netherlands.; Debuy C; Department of Clinical Genetics, Erasmus MC, University Medical Center Rotterdam, Rotterdam, the Netherlands.; Donker Kaat L; Department of Clinical Genetics, Erasmus MC, University Medical Center Rotterdam, Rotterdam, the Netherlands.; van Dijk BT; Department of Paediatrics, Willem-Alexander Children's Hospital, Division of Neonatology, Leiden University Medical Centre, Leiden, the Netherlands.; van Engelen N; Department of Clinical Genetics, Erasmus MC, University Medical Center Rotterdam, Rotterdam, the Netherlands.; Geeven G; Department of Clinical Genetics, Erasmus MC, University Medical Center Rotterdam, Rotterdam, the Netherlands.; van de Graaf R; Department of Clinical Genetics, Erasmus MC, University Medical Center Rotterdam, Rotterdam, the Netherlands.; van Haaften-Visser DY; Department of Pediatrics, Center for Lysosomal and Metabolic Diseases, Erasmus MC, University Medical Center, Rotterdam, the Netherlands.; van Hasselt PM; Department of Metabolic Diseases, Division Pediatrics, Wilhelmina Children's Hospital University Medical Centre Utrecht, Utrecht University, Utrecht, the Netherlands.; Heijsman D; Department of Clinical Genetics, Erasmus MC, University Medical Center Rotterdam, Rotterdam, the Netherlands.; Hendriks YMC; Department of Clinical Genetics, Leiden University Medical Center, Leiden, the Netherlands.; Hitti-Malin RJ; Department of Clinical Genetics, Erasmus MC, University Medical Center Rotterdam, Rotterdam, the Netherlands.; Hoefsloot LH; Department of Clinical Genetics, Erasmus MC, University Medical Center Rotterdam, Rotterdam, the Netherlands.; Huijbregts G; Department of Clinical Genetics, Erasmus MC, University Medical Center Rotterdam, Rotterdam, the Netherlands.; IJspeert H; Department of Clinical Genetics, Erasmus MC, University Medical Center Rotterdam, Rotterdam, the Netherlands.; Lamballais S; Department of Clinical Genetics, Erasmus MC, University Medical Center Rotterdam, Rotterdam, the Netherlands.; Mijalkovic J; 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Department of Clinical Genetics, Erasmus MC, University Medical Center Rotterdam, Rotterdam, the Netherlands.; Kleefstra T; Department of Clinical Genetics, Erasmus MC, University Medical Center Rotterdam, Rotterdam, the Netherlands.; Department Human Genetics, Radboud University Medical Center, Nijmegen, the Netherlands.; Center for Neuropsychiatry, Vincent van Gogh, Venray, the Netherlands.; Rots D; Department of Clinical Genetics, Erasmus MC, University Medical Center Rotterdam, Rotterdam, the Netherlands. d.rots@erasmusmc.nl.; Verhoeven VJM; Department of Clinical Genetics, Erasmus MC, University Medical Center Rotterdam, Rotterdam, the Netherlands. v.verhoeven@erasmusmc.nl.

Publisher: Nature Publishing Group Country of Publication: England NLM ID: 9302235 Publication Model: Print-Electronic Cited Medium: Internet ISSN: 1476-5438 (Electronic) Linking ISSN: 10184813 NLM ISO Abbreviation: Eur J Hum Genet Subsets: MEDLINE

Smits DJ; Department of Clinical Genetics, Erasmus MC University Medical Center Rotterdam, Rotterdam, The Netherlands. d.smits@erasmusmc.nl.; Debuy C; Department of Clinical Genetics, Erasmus MC University Medical Center Rotterdam, Rotterdam, The Netherlands.; Brooks AS; Department of Clinical Genetics, Erasmus MC University Medical Center Rotterdam, Rotterdam, The Netherlands.; Schot R; Department of Clinical Genetics, Erasmus MC University Medical Center Rotterdam, Rotterdam, The Netherlands.; Ferraro F; Department of Clinical Genetics, Erasmus MC University Medical Center Rotterdam, Rotterdam, The Netherlands.; Rots D; Department of Clinical Genetics, Erasmus MC University Medical Center Rotterdam, Rotterdam, The Netherlands.; Genetics Laboratory, Children's Clinical University Hospital, Riga, Latvia.; Bouman A; Department of Clinical Genetics, Erasmus MC University Medical Center Rotterdam, Rotterdam, The Netherlands.; Verhoeven VJM; Department of Clinical Genetics, Erasmus MC University Medical Center Rotterdam, Rotterdam, The Netherlands.; Donker Kaat L; Department of Clinical Genetics, Erasmus MC University Medical Center Rotterdam, Rotterdam, The Netherlands.; Kant SG; Department of Clinical Genetics, Erasmus MC University Medical Center Rotterdam, Rotterdam, The Netherlands.; van Bever Y; Department of Clinical Genetics, Erasmus MC University Medical Center Rotterdam, Rotterdam, The Netherlands.; Demirdas S; Department of Clinical Genetics, Erasmus MC University Medical Center Rotterdam, Rotterdam, The Netherlands.; Zeidler S; Department of Clinical Genetics, Erasmus MC University Medical Center Rotterdam, Rotterdam, The Netherlands.; van Dooren MF; Department of Clinical Genetics, Erasmus MC University Medical Center Rotterdam, Rotterdam, The Netherlands.; Donze SH; Department of Clinical Genetics, Erasmus MC University Medical Center Rotterdam, Rotterdam, The Netherlands.; Hoefsloot LH; Department of Clinical Genetics, Erasmus MC University Medical Center Rotterdam, Rotterdam, The Netherlands.; van Slegtenhorst MA; Department of Clinical Genetics, Erasmus MC University Medical Center Rotterdam, Rotterdam, The Netherlands.; Wilke M; Department of Clinical Genetics, Erasmus MC University Medical Center Rotterdam, Rotterdam, The Netherlands.; Sleutels F; Department of Clinical Genetics, Erasmus MC University Medical Center Rotterdam, Rotterdam, The Netherlands.; Drost M; Department of Clinical Genetics, Erasmus MC University Medical Center Rotterdam, Rotterdam, The Netherlands.; Brüggenwirth HT; Department of Clinical Genetics, Erasmus MC University Medical Center Rotterdam, Rotterdam, The Netherlands.; van Minkelen R; Department of Clinical Genetics, Erasmus MC University Medical Center Rotterdam, Rotterdam, The Netherlands.; Goverde A; Department of Clinical Genetics, Erasmus MC University Medical Center Rotterdam, Rotterdam, The Netherlands.; Hol JA; Department of Clinical Genetics, Erasmus MC University Medical Center Rotterdam, Rotterdam, The Netherlands.; van de Laar IMBH; Department of Clinical Genetics, Erasmus MC University Medical Center Rotterdam, Rotterdam, The Netherlands.; van Ierland Y; Department of Clinical Genetics, Erasmus MC University Medical Center Rotterdam, Rotterdam, The Netherlands.; Kievit A; Department of Clinical Genetics, Erasmus MC University Medical Center Rotterdam, Rotterdam, The Netherlands.; van der Schoot V; Department of Clinical Genetics, Erasmus MC University Medical Center Rotterdam, Rotterdam, The Netherlands.; Stuurman KE; Department of Clinical Genetics, Erasmus MC University Medical Center Rotterdam, Rotterdam, The Netherlands.; Mancini GMS; Department of Clinical Genetics, Erasmus MC University Medical Center Rotterdam, Rotterdam, The Netherlands.; Wessels MW; Department of Clinical Genetics, Erasmus MC University Medical Center Rotterdam, Rotterdam, The Netherlands.; van Ham TJ; Department of Clinical Genetics, Erasmus MC University Medical Center Rotterdam, Rotterdam, The Netherlands.; Kleefstra T; Department of Clinical Genetics, Erasmus MC University Medical Center Rotterdam, Rotterdam, The Netherlands.; Department of Human Genetics, Radboudumc, Nijmegen, The Netherlands.; Center for Neuropsychiatry, Vincent van Gogh, Venray, The Netherlands.; Barakat TS; Department of Clinical Genetics, Erasmus MC University Medical Center Rotterdam, Rotterdam, The Netherlands. t.barakat@erasmusmc.nl.

Publisher: Nature Publishing Group Country of Publication: England NLM ID: 9302235 Publication Model: Print-Electronic Cited Medium: Internet ISSN: 1476-5438 (Electronic) Linking ISSN: 10184813 NLM ISO Abbreviation: Eur J Hum Genet Subsets: MEDLINE

Diderich KEM; Department of Clinical Genetics, Erasmus MC University Medical Center, Rotterdam, The Netherlands.; Bruggenwirth HT; Department of Clinical Genetics, Erasmus MC University Medical Center, Rotterdam, The Netherlands.; Joosten M; Department of Clinical Genetics, Erasmus MC University Medical Center, Rotterdam, The Netherlands.; Thurik F; Department of Clinical Genetics, Erasmus MC University Medical Center, Rotterdam, The Netherlands.; Mijalkovic J; Department of Clinical Genetics, Erasmus MC University Medical Center, Rotterdam, The Netherlands.; Polak M; Department of Psychology, Education & Child Studies (DPECS), Erasmus University Rotterdam, Rotterdam, The Netherlands.; Kromosoeto J; Department of Clinical Genetics, Erasmus MC University Medical Center, Rotterdam, The Netherlands.; Somers-Bolman GM; Department of Clinical Genetics, Erasmus MC University Medical Center, Rotterdam, The Netherlands.; van den Born M; Department of Clinical Genetics, Erasmus MC University Medical Center, Rotterdam, The Netherlands.; Drost M; Department of Clinical Genetics, Erasmus MC University Medical Center, Rotterdam, The Netherlands.; Galjaard RJH; Department of Clinical Genetics, Erasmus MC University Medical Center, Rotterdam, The Netherlands.; Galjaard S; Department of Obstetrics and Gynaecology, Erasmus MC, University Medical Centre Rotterdam, Rotterdam, The Netherlands.; Hoefsloot LH; Department of Clinical Genetics, Erasmus MC University Medical Center, Rotterdam, The Netherlands.; Knapen MFCM; Department of Obstetrics and Gynaecology, Erasmus MC, University Medical Centre Rotterdam, Rotterdam, The Netherlands.; van Minkelen R; Department of Clinical Genetics, Erasmus MC University Medical Center, Rotterdam, The Netherlands.; van der Schoot V; Department of Clinical Genetics, Erasmus MC University Medical Center, Rotterdam, The Netherlands.; van Slegtenhorst MA; Department of Clinical Genetics, Erasmus MC University Medical Center, Rotterdam, The Netherlands.; Sleutels F; Department of Clinical Genetics, Erasmus MC University Medical Center, Rotterdam, The Netherlands.; Stuurman KE; Department of Clinical Genetics, Erasmus MC University Medical Center, Rotterdam, The Netherlands.; Weerts MJA; Department of Clinical Genetics, Erasmus MC University Medical Center, Rotterdam, The Netherlands.; Go ATJI; Department of Obstetrics and Gynaecology, Erasmus MC, University Medical Centre Rotterdam, Rotterdam, The Netherlands.; Wilke M; Department of Clinical Genetics, Erasmus MC University Medical Center, Rotterdam, The Netherlands.; Srebniak MI; Department of Clinical Genetics, Erasmus MC University Medical Center, Rotterdam, The Netherlands.

Publisher: Wiley Country of Publication: England NLM ID: 8106540 Publication Model: Print-Electronic Cited Medium: Internet ISSN: 1097-0223 (Electronic) Linking ISSN: 01973851 NLM ISO Abbreviation: Prenat Diagn Subsets: MEDLINE

Campos Obando, Natalia; Oei - Oei, Ling; Hoefsloot, LH; Kiewiet, RM; Klaver, Caroline; Simon, MEH; Zillikens, M.C.

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Heutinck PAT; Department of Ophthalmology, Erasmus MC, University Medical Center, Rotterdam, The Netherlands.; Iglesias AI; Department of Clinical Genetics, Erasmus MC, University Medical Center, Rotterdam, the Netherlands.; Farhud DD; School of Public Health, Tehran University of Medical Sciences, Tehran, Iran.; Department of Basis Sciences, Ethnics Iranian Academy of Medical Sciences, Tehran, Iran.; van Tienhoven M; Department of Clinical Genetics, Erasmus MC, University Medical Center, Rotterdam, the Netherlands.; Khoshraftar A; Doctor Farhud Genetics Clinic, Tehran, Iran.; Zarif-Yeganeh M; Doctor Farhud Genetics Clinic, Tehran, Iran.; Kia SK; Laboratory for Red Blood Cell Diagnostics, Sanquin, Amsterdam, The Netherlands.; Ghanbari M; Department of Epidemiology, Erasmus MC, University Medical Center, Rotterdam, the Netherlands.; Smoor MA; Department of Ophthalmology, Erasmus MC, University Medical Center, Rotterdam, The Netherlands.; Department of Epidemiology, Erasmus MC, University Medical Center, Rotterdam, the Netherlands.; Klaver CCW; Department of Ophthalmology, Erasmus MC, University Medical Center, Rotterdam, The Netherlands.; Department of Epidemiology, Erasmus MC, University Medical Center, Rotterdam, the Netherlands.; Department of Ophthalmology, Radboud University Medical Center, Nijmegen, the Netherlands.; Institute of Molecular and Clinical Ophthalmology, Basel, Switzerland.; Hoefsloot LH; Department of Clinical Genetics, Erasmus MC, University Medical Center, Rotterdam, the Netherlands.; Thiadens AAHJ; Department of Ophthalmology, Erasmus MC, University Medical Center, Rotterdam, The Netherlands.; Verhoeven VJM; Department of Ophthalmology, Erasmus MC, University Medical Center, Rotterdam, The Netherlands. v.verhoeven@erasmusmc.nl.; Department of Clinical Genetics, Erasmus MC, University Medical Center, Rotterdam, the Netherlands. v.verhoeven@erasmusmc.nl.

Publisher: Nature Publishing Group Country of Publication: England NLM ID: 101563288 Publication Model: Electronic Cited Medium: Internet ISSN: 2045-2322 (Electronic) Linking ISSN: 20452322 NLM ISO Abbreviation: Sci Rep Subsets: MEDLINE

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American Journal of Human Genetics, 77, 6, pp. 945-57

Groeneweg S; Academic Center for Thyroid Diseases, Department of Internal Medicine, Erasmus Medical Center, Rotterdam, The Netherlands.; van Geest FS; Academic Center for Thyroid Diseases, Department of Internal Medicine, Erasmus Medical Center, Rotterdam, The Netherlands.; van der Most F; Academic Center for Thyroid Diseases, Department of Internal Medicine, Erasmus Medical Center, Rotterdam, The Netherlands.; Abela L; Department of Paediatric Neurology, Universitäts-Kinderspital Zürich, Zurich, Switzerland.; Alfieri P; Unit of Child Neuropsychiatry, Department of Neurosciences, Bambino Gesù Children's Hospital, IRCCS, Rome, Italy.; Bauer AJ; The Thyroid Center, Division of Endocrinology and Diabetes, The Children's Hospital of Philadelphia, and Department of Paediatrics, The University of Pennsylvania, Philadelphia, PA, USA.; Bertini E; Unit of Neuromuscular and Neurodegenerative Disorders, Department of Neurosciences, Bambino Gesù Children's Hospital, IRCCS, Rome, Italy.; Cappa M; Unit of Neuromuscular and Neurodegenerative Disorders, Department of Neurosciences, Bambino Gesù Children's Hospital, IRCCS, Rome, Italy.; Çelik N; Division of Paediatric Endocrinology, Department of Child Health and Diseases, Sivas Cumhuriyet University Faculty of Medicine, Sivas, Turkey.; de Coo IFM; Department of Paediatric Neurology, Erasmus Medical Center, Rotterdam, The Netherlands.; Mental Health and Neuroscience Research Institute, Department Translational Genomics, Maastricht University Medical Centre, Maastricht, The Netherlands.; Dolcetta-Capuzzo A; Academic Center for Thyroid Diseases, Department of Internal Medicine, Erasmus Medical Center, Rotterdam, The Netherlands.; Department of Endocrinology and Internal Medicine, San Raffaele Scientific Institute, Milan, Italy.; Dubinski I; Centre for Paediatric Endocrinology Zurich (PEZZ), Zurich, Switzerland.; Division of Paediatric Endocrinology and Diabetology, Dr. von Hauner Children's Hospital, University Hospital (LMU), Munich, Germany.; Granadillo JL; Department of Paediatrics, Division of Genetics and Genomic Medicine, Washington University School of Medicine, Saint Louis, MO, USA.; Hoefsloot LH; Department of Clinical Genetics, Erasmus Medical Center, Rotterdam, The Netherlands.; Kalscheuer VM; Max Planck Institute for Molecular Genetics, Berlin, Germany.; van der Knoop MM; Department of Paediatric Neurology, Erasmus Medical Center, Rotterdam, The Netherlands.; Krude H; Institut für Experimentelle Pädiatrische Endokrinologie, Charité-Universitätsmedizin Berlin, Berlin, Germany.; McNerney KP; Department of Paediatrics, Division of Endocrinology, Diabetes, and Metabolism, Washington University School of Medicine, Saint Louis, MO, USA.; Paone L; Unit of Neuromuscular and Neurodegenerative Disorders, Department of Neurosciences, Bambino Gesù Children's Hospital, IRCCS, Rome, Italy.; Peeters RP; Academic Center for Thyroid Diseases, Department of Internal Medicine, Erasmus Medical Center, Rotterdam, The Netherlands.; Peters C; Department of Paediatric Endocrinology, Great Ormond Street Hospital for Children, London, United Kingdom.; Schuelke M; Department or Neuropediatrics, Charité-Universitätsmedizin Berlin, Berlin, Germany.; Schweizer U; Institut für Biochemie und Molekularbiologie, Rheinische Friedrich-Wilhelms-Universität Bonn, Bonn, Germany.; Sprague JE; Department of Paediatrics, Division of Endocrinology, Diabetes, and Metabolism, Washington University School of Medicine, Saint Louis, MO, USA.; van Trotsenburg ASP; Department of Paediatric Endocrinology, Emma Children's Hospital, Amsterdam UMC, University of Amsterdam, The Netherlands.; Amsterdam Reproduction and Development Research Institute, Amsterdam, The Netherlands.; Wilpert NM; Department or Neuropediatrics, Charité-Universitätsmedizin Berlin, Berlin, Germany.; Berlin Institute of Health at Charité - Universitätsmedizin Berlin, BIH Biomedical Innovation Academy, BIH Charité Junior Clinician Scientist Program, Berlin, Germany.; Zanni G; Unit of Neuromuscular and Neurodegenerative Disorders, Department of Neurosciences, Bambino Gesù Children's Hospital, IRCCS, Rome, Italy.; van Zutven LJCM; Department of Clinical Genetics, Erasmus Medical Center, Rotterdam, The Netherlands.; Visser WE; Academic Center for Thyroid Diseases, Department of Internal Medicine, Erasmus Medical Center, Rotterdam, The Netherlands.

Publisher: Oxford University Press Country of Publication: United States NLM ID: 0375362 Publication Model: Print-Electronic Cited Medium: Internet ISSN: 1945-7197 (Electronic) Linking ISSN: 0021972X NLM ISO Abbreviation: J Clin Endocrinol Metab Subsets: MEDLINE

Deng R; Department of Clinical Genetics, Erasmus MC University Medical Center, Rotterdam, The Netherlands.; Whole Genome Sequencing Implementation and Research Task Force, Department of Clinical Genetics, Erasmus MC University Medical Center, Rotterdam, The Netherlands.; Medico-Salsench E; Department of Clinical Genetics, Erasmus MC University Medical Center, Rotterdam, The Netherlands.; Nikoncuk A; Department of Clinical Genetics, Erasmus MC University Medical Center, Rotterdam, The Netherlands.; Ramakrishnan R; Bioscience Program, Biological and Environmental Science and Engineering Division, Computational Bioscience Research Center, King Abdullah University of Science and Technology (KAUST), Thuwal, 23955-6900, Saudi Arabia.; Lanko K; Department of Clinical Genetics, Erasmus MC University Medical Center, Rotterdam, The Netherlands.; Kühn NA; Department of Cell Biology, Erasmus MC University Medical Center, Rotterdam, The Netherlands.; van der Linde HC; Department of Clinical Genetics, Erasmus MC University Medical Center, Rotterdam, The Netherlands.; Lor-Zade S; Department of Clinical Genetics, Erasmus MC University Medical Center, Rotterdam, The Netherlands.; Albuainain F; Department of Clinical Genetics, Erasmus MC University Medical Center, Rotterdam, The Netherlands.; Shi Y; Department of Clinical Genetics, Erasmus MC University Medical Center, Rotterdam, The Netherlands.; Yousefi S; Department of Clinical Genetics, Erasmus MC University Medical Center, Rotterdam, The Netherlands.; Whole Genome Sequencing Implementation and Research Task Force, Department of Clinical Genetics, Erasmus MC University Medical Center, Rotterdam, The Netherlands.; Capo I; Department for Histology and Embryology, Faculty of Medicine, University of Novi Sad, Novi Sad, Serbia.; van den Herik EM; Department of Neurology, Erasmus MC University Medical Center, Rotterdam, The Netherlands.; van Slegtenhorst M; Department of Clinical Genetics, Erasmus MC University Medical Center, Rotterdam, The Netherlands.; van Minkelen R; Department of Clinical Genetics, Erasmus MC University Medical Center, Rotterdam, The Netherlands.; Geeven G; Department of Clinical Genetics, Erasmus MC University Medical Center, Rotterdam, The Netherlands.; Whole Genome Sequencing Implementation and Research Task Force, Department of Clinical Genetics, Erasmus MC University Medical Center, Rotterdam, The Netherlands.; Mulder MT; Department of Internal Medicine, Erasmus MC University Medical Center, Rotterdam, The Netherlands.; Ruijter GJG; Department of Clinical Genetics, Erasmus MC University Medical Center, Rotterdam, The Netherlands.; Lütjohann D; Institute of Clinical Chemistry and Clinical Pharmacology, University Hospital Bonn, Bonn, Germany.; Jacobs EH; Department of Clinical Genetics, Erasmus MC University Medical Center, Rotterdam, The Netherlands.; Houlden H; Department of Neuromuscular Disorders, UCL Queen Square Institute of Neurology, London, UK.; Pagnamenta AT; NIHR Biomedical Research Centre, Wellcome Centre for Human Genetics, University of Oxford, Oxford, UK.; Metcalfe K; Manchester Centre for Genomic Medicine, St Mary's Hospital, Health Innovation Manchester, Manchester University Foundation NHS Trust, Manchester, UK.; Division of Evolution, Infection and Genomics, School of Biological Sciences, Faculty of Biology, Medicine and Health, The University of Manchester, Manchester, M13 9PL, UK.; Jackson A; Manchester Centre for Genomic Medicine, St Mary's Hospital, Health Innovation Manchester, Manchester University Foundation NHS Trust, Manchester, UK.; Division of Evolution, Infection and Genomics, School of Biological Sciences, Faculty of Biology, Medicine and Health, The University of Manchester, Manchester, M13 9PL, UK.; Banka S; Manchester Centre for Genomic Medicine, St Mary's Hospital, Health Innovation Manchester, Manchester University Foundation NHS Trust, Manchester, UK.; Division of Evolution, Infection and Genomics, School of Biological Sciences, Faculty of Biology, Medicine and Health, The University of Manchester, Manchester, M13 9PL, UK.; De Simone L; Division of Neurology, Division of Genetics, Ann & Robert H. Lurie Children's Hospital of Chicago, Chicago, USA.; Schwaede A; Division of Neurology, Division of Genetics, Ann & Robert H. Lurie Children's Hospital of Chicago, Chicago, USA.; Kuntz N; Division of Neurology, Division of Genetics, Ann & Robert H. Lurie Children's Hospital of Chicago, Chicago, USA.; Palculict TB; GeneDx, Gaithersburg, MD, 20877, USA.; Abbas S; Department of Biological Science, Dartmouth College, Hanover, NH, USA.; Umair M; Medical Genomics Research Department, King Abdullah International Medical Research Center (KAIMRC), King Saud Bin Abdulaziz University for Health Sciences, Ministry of National Guard Health Affairs, Riyadh, Saudi Arabia.; Department of Life Sciences, School of Science, University of Management and Technology (UMT), Lahore, Pakistan.; AlMuhaizea M; Neuroscience Centre, King Faisal Specialist Hospital and Research Centre (KFSHRC), MBC: 76, Riyadh, 11211, Saudi Arabia.; Colak D; Molecular Oncology Department, King Faisal Specialist Hospital and Research Centre (KFSHRC), MBC: 03, Riyadh, 11211, Saudi Arabia.; AlQudairy H; Translational Genomics Department, Center for Genomics Medicine, King Faisal Specialist Hospital and Research Centre, MBC: 26, PO Box: 3354, Riyadh, 11211, Saudi Arabia.; Alsagob M; Translational Genomics Department, Center for Genomics Medicine, King Faisal Specialist Hospital and Research Centre, MBC: 26, PO Box: 3354, Riyadh, 11211, Saudi Arabia.; Applied Genomics Technologies Institute, King Abdulaziz City for Science and Technology (KACST), Riyadh, Saudi Arabia.; Pereira C; CENTOGENE, GmbH, 18055, Rostock, Germany.; Trunzo R; CENTOGENE, GmbH, 18055, Rostock, Germany.; Karageorgou V; CENTOGENE, GmbH, 18055, Rostock, Germany.; Bertoli-Avella AM; CENTOGENE, GmbH, 18055, Rostock, Germany.; Bauer P; CENTOGENE, GmbH, 18055, Rostock, Germany.; Bouman A; Department of Clinical Genetics, Erasmus MC University Medical Center, Rotterdam, The Netherlands.; Hoefsloot LH; Department of Clinical Genetics, Erasmus MC University Medical Center, Rotterdam, The Netherlands.; Whole Genome Sequencing Implementation and Research Task Force, Department of Clinical Genetics, Erasmus MC University Medical Center, Rotterdam, The Netherlands.; van Ham TJ; Department of Clinical Genetics, Erasmus MC University Medical Center, Rotterdam, The Netherlands.; Whole Genome Sequencing Implementation and Research Task Force, Department of Clinical Genetics, Erasmus MC University Medical Center, Rotterdam, The Netherlands.; Issa M; Clinical Genetics Department, Human Genetics and Genome Research Institute, National Research Centre, Cairo, Egypt.; Zaki MS; Clinical Genetics Department, Human Genetics and Genome Research Institute, National Research Centre, Cairo, Egypt.; Gleeson JG; Departments of Neurosciences and Pediatrics, Howard Hughes Medical Institute, University of California, Rady Children's Institute for Genomic Medicine, San Diego, USA.; Willemsen R; Department of Clinical Genetics, Erasmus MC University Medical Center, Rotterdam, The Netherlands.; Kaya N; Translational Genomics Department, Center for Genomics Medicine, King Faisal Specialist Hospital and Research Centre, MBC: 26, PO Box: 3354, Riyadh, 11211, Saudi Arabia.; Arold ST; Bioscience Program, Biological and Environmental Science and Engineering Division, Computational Bioscience Research Center, King Abdullah University of Science and Technology (KAUST), Thuwal, 23955-6900, Saudi Arabia.; Centre de Biologie Structurale, CNRS, INSERM, Université de Montpellier, 34090, Montpellier, France.; Maroofian R; Department of Neuromuscular Disorders, UCL Queen Square Institute of Neurology, London, UK.; Sanderson LE; Department of Clinical Genetics, Erasmus MC University Medical Center, Rotterdam, The Netherlands.; Barakat TS; Department of Clinical Genetics, Erasmus MC University Medical Center, Rotterdam, The Netherlands. t.barakat@erasmusmc.nl.; Whole Genome Sequencing Implementation and Research Task Force, Department of Clinical Genetics, Erasmus MC University Medical Center, Rotterdam, The Netherlands. t.barakat@erasmusmc.nl.; ENCORE Expertise Center for Neurodevelopmental Disorders, Erasmus MC University Medical Center, Rotterdam, The Netherlands. t.barakat@erasmusmc.nl.; Discovery Unit, Department of Clinical Genetics, Erasmus MC University Medical Center, Rotterdam, The Netherlands. t.barakat@erasmusmc.nl.

Publisher: Springer Verlag Country of Publication: Germany NLM ID: 0412041 Publication Model: Print-Electronic Cited Medium: Internet ISSN: 1432-0533 (Electronic) Linking ISSN: 00016322 NLM ISO Abbreviation: Acta Neuropathol Subsets: MEDLINE

Ghasempour S; Cell Biology Program, Research Institute, Hospital for Sick Children , Toronto, Canada.; Department of Biochemistry, University of Toronto, Toronto, Canada.; Warner N; Cell Biology Program, Research Institute, Hospital for Sick Children , Toronto, Canada.; Guan R; Cell Biology Program, Research Institute, Hospital for Sick Children , Toronto, Canada.; Rodari MM; Laboratory of Intestinal Immunity, Université Paris-Cité, Institut Imagine, INSERM U1163 , Paris, France.; Ivanochko D; Program in Molecular Medicine, The Hospital for Sick Children Research Institute , Toronto, Canada.; Whittaker Hawkins R; Cell Biology Program, Research Institute, Hospital for Sick Children , Toronto, Canada.; Marwaha A; Division of Genetics, Department of Medical Genetics, University of Calgary, Alberta Children's Hospital, Calgary, Canada.; Nowak JK; Laboratory of Intestinal Immunity, Université Paris-Cité, Institut Imagine, INSERM U1163 , Paris, France.; Liang Y; Center for Computational Medicine, Research Institute, Hospital for Sick Children , Toronto, Canada.; Mulder DJ; Department of Pediatrics, Gastrointestinal Diseases Research Unit, Queen's University, Kingston, Canada.; Stallard L; National Centre for Pediatric Gastroenterology, Children's Health Ireland , Dublin, Ireland.; Li M; Center for Computational Medicine, Research Institute, Hospital for Sick Children , Toronto, Canada.; Yu DD; Cell Biology Program, Research Institute, Hospital for Sick Children , Toronto, Canada.; Pluthero FG; Department of Biochemistry, University of Toronto, Toronto, Canada.; Batura V; Cell Biology Program, Research Institute, Hospital for Sick Children , Toronto, Canada.; Zhao M; Genetics and Genome Biology, Research Institute, Hospital for Sick Children , Toronto, Canada.; Siddiqui I; Division of Pathology, Department of Pediatric Laboratory Medicine, The Hospital for Sick Children, Toronto, Canada.; Laboratory Medicine and Pathobiology, University of Toronto , Toronto, Canada.; Upton JEM; Division of Immunology and Allergy, The Hospital for Sick Children, Toronto, Canada.; Department of Paediatrics, University of Toronto, Toronto, Canada.; Hulst JM; Department of Paediatrics, University of Toronto, Toronto, Canada.; Division of Gastroenterology, Hepatology, and Nutrition, The Hospital for Sick Children, Toronto, Canada.; Kahr WHA; Cell Biology Program, Research Institute, Hospital for Sick Children , Toronto, Canada.; Department of Biochemistry, University of Toronto, Toronto, Canada.; Department of Paediatrics, University of Toronto, Toronto, Canada.; Mendoza-Londono R; Department of Paediatrics, University of Toronto, Toronto, Canada.; Division of Clinical and Metabolic Genetics, Department of Paediatrics, The Hospital for Sick Children and University of Toronto, Toronto, Canada.; Charbit-Henrion F; Laboratory of Intestinal Immunity, Université Paris-Cité, Institut Imagine, INSERM U1163 , Paris, France.; Genomic Medicine for Rare Diseases, Necker-Enfants Malades Hospital , Paris, France.; Hoefsloot LH; Department of Clinical Genetics, Erasmus MC, University Medical Center Rotterdam, Rotterdam, Netherlands.; Khiat A; Laboratory of Intestinal Immunity, Université Paris-Cité, Institut Imagine, INSERM U1163 , Paris, France.; Moreira D; Consulta de Imunodeficiências Primárias, Serviço de Pediatria, Centro Hospitalar Vila Nova de Gaia e Espinho , Vila Nova de Gaia, Portugal.; Trindade E; Department of Pediatrics, Unit of Pediatric Gastroenterology, Hepatology and Nutrition, Centro Hospitalar Universitário de São João, Porto, Portugal.; Espinheira MDC; Department of Pediatrics, Unit of Pediatric Gastroenterology, Hepatology and Nutrition, Centro Hospitalar Universitário de São João, Porto, Portugal.; Pinto Pais I; Department of Pediatrics, Unit of Pediatric Gastroenterology, Hepatology and Nutrition, Centro Hospitalar Universitário de São João, Porto, Portugal.; Weerts MJA; Department of Clinical Genetics, Erasmus MC, University Medical Center Rotterdam, Rotterdam, Netherlands.; Douben H; Department of Clinical Genetics, Erasmus MC, University Medical Center Rotterdam, Rotterdam, Netherlands.; Kotlarz D; Department of Pediatrics, Dr. von Hauner Children's Hospital, University Hospital, LMU Munich, Munich, Germany.; German Center for Child and Adolescent Health, Munich Site , Munich, Germany.; Institute of Translational Genomics, Helmholtz Zentrum München German Research Center for Environmental Health, Neuherberg, Germany.; Snapper SB; Division of Gastroenterology, Hepatology and Nutrition, Boston, Children's Hospital, Harvard Medical School, Boston, MA, USA.; Division of Gastroenterology, Brigham and Women's Hospital, Boston, MA, USA.; Klein C; Department of Pediatrics, Dr. von Hauner Children's Hospital, University Hospital, LMU Munich, Munich, Germany.; German Center for Child and Adolescent Health, Munich Site , Munich, Germany.; Dowling JJ; Genetics and Genome Biology, Research Institute, Hospital for Sick Children , Toronto, Canada.; Department of Paediatrics, University of Toronto, Toronto, Canada.; Julien JP; Program in Molecular Medicine, The Hospital for Sick Children Research Institute , Toronto, Canada.; Joosten M; Department of Clinical Genetics, Erasmus MC, University Medical Center Rotterdam, Rotterdam, Netherlands.; Cerf-Bensussan N; Laboratory of Intestinal Immunity, Université Paris-Cité, Institut Imagine, INSERM U1163 , Paris, France.; Freeman SA; Cell Biology Program, Research Institute, Hospital for Sick Children , Toronto, Canada.; Department of Biochemistry, University of Toronto, Toronto, Canada.; Parlato M; Laboratory of Intestinal Immunity, Université Paris-Cité, Institut Imagine, INSERM U1163 , Paris, France.; van Ham TJ; Department of Clinical Genetics, Erasmus MC, University Medical Center Rotterdam, Rotterdam, Netherlands.; Muise AM; Cell Biology Program, Research Institute, Hospital for Sick Children , Toronto, Canada.; Department of Biochemistry, University of Toronto, Toronto, Canada.; Department of Paediatrics, University of Toronto, Toronto, Canada.; Division of Gastroenterology, Hepatology, and Nutrition, The Hospital for Sick Children, Toronto, Canada.

Publisher: Rockefeller University Press Country of Publication: United States NLM ID: 2985109R Publication Model: Print-Electronic Cited Medium: Internet ISSN: 1540-9538 (Electronic) Linking ISSN: 00221007 NLM ISO Abbreviation: J Exp Med Subsets: MEDLINE

van Bever Y; DSD-Expert Center, Erasmus MC, Sophia Children's Hospital, University Medical Center, Rotterdam, The Netherlands.; Department of Clinical Genetics, Erasmus MC, University Medical Center, Rotterdam, The Netherlands.; Groenenberg IAL; DSD-Expert Center, Erasmus MC, Sophia Children's Hospital, University Medical Center, Rotterdam, The Netherlands.; Department of Obstetrics and Prenatal Medicine, Erasmus MC, University Medical Center, Rotterdam, The Netherlands.; Knapen MFCM; DSD-Expert Center, Erasmus MC, Sophia Children's Hospital, University Medical Center, Rotterdam, The Netherlands.; Department of Obstetrics and Prenatal Medicine, Erasmus MC, University Medical Center, Rotterdam, The Netherlands.; Dessens AB; DSD-Expert Center, Erasmus MC, Sophia Children's Hospital, University Medical Center, Rotterdam, The Netherlands.; Department of Child and Adolescent Psychiatry, Erasmus MC, University Medical Center Rotterdam, The Netherlands.; Hannema SE; DSD-Expert Center, Erasmus MC, Sophia Children's Hospital, University Medical Center, Rotterdam, The Netherlands.; Department of Pediatric Endocrinology, Erasmus MC, University Medical Center Rotterdam, The Netherlands.; Department of Pediatrics, Leiden University Medical Center, Leiden, The Netherlands.; Department of Paediatric Endocrinology, Amsterdam University Medical Center, Amsterdam, The Netherlands.; Wolffenbuttel KP; DSD-Expert Center, Erasmus MC, Sophia Children's Hospital, University Medical Center, Rotterdam, The Netherlands.; Department of Urology and Pediatric Urology, Erasmus MC, University Medical Center Rotterdam, The Netherlands.; Diderich KEM; Department of Clinical Genetics, Erasmus MC, University Medical Center, Rotterdam, The Netherlands.; Hoefsloot LH; Department of Clinical Genetics, Erasmus MC, University Medical Center, Rotterdam, The Netherlands.; Srebniak MI; Department of Clinical Genetics, Erasmus MC, University Medical Center, Rotterdam, The Netherlands.; Bruggenwirth HT; DSD-Expert Center, Erasmus MC, Sophia Children's Hospital, University Medical Center, Rotterdam, The Netherlands.; Department of Clinical Genetics, Erasmus MC, University Medical Center, Rotterdam, The Netherlands.

Publisher: Wiley Country of Publication: England NLM ID: 8106540 Publication Model: Print-Electronic Cited Medium: Internet ISSN: 1097-0223 (Electronic) Linking ISSN: 01973851 NLM ISO Abbreviation: Prenat Diagn Subsets: MEDLINE

Douben HCW; Department of Clinical Genetics, Erasmus MC, University Medical Center Rotterdam, Rotterdam, The Netherlands.; Nellist M; Department of Clinical Genetics, Erasmus MC, University Medical Center Rotterdam, Rotterdam, The Netherlands.; van Unen L; Department of Clinical Genetics, Erasmus MC, University Medical Center Rotterdam, Rotterdam, The Netherlands.; Elfferich P; Department of Clinical Genetics, Erasmus MC, University Medical Center Rotterdam, Rotterdam, The Netherlands.; Kasteleijn E; Department of Clinical Genetics, Erasmus MC, University Medical Center Rotterdam, Rotterdam, The Netherlands.; Hoogeveen-Westerveld M; Department of Clinical Genetics, Erasmus MC, University Medical Center Rotterdam, Rotterdam, The Netherlands.; Louwen J; Department of Clinical Genetics, Erasmus MC, University Medical Center Rotterdam, Rotterdam, The Netherlands.; van Veghel-Plandsoen M; Department of Clinical Genetics, Erasmus MC, University Medical Center Rotterdam, Rotterdam, The Netherlands.; de Valk W; Department of Clinical Genetics, Erasmus MC, University Medical Center Rotterdam, Rotterdam, The Netherlands.; Saris JJ; Department of Clinical Genetics, Erasmus MC, University Medical Center Rotterdam, Rotterdam, The Netherlands.; Hendriks F; Department of Clinical Genetics, Erasmus MC, University Medical Center Rotterdam, Rotterdam, The Netherlands.; Korpershoek E; Department of Clinical Genetics, Erasmus MC, University Medical Center Rotterdam, Rotterdam, The Netherlands.; Department of Pathology, Erasmus MC, University Medical Center Rotterdam, Rotterdam, The Netherlands.; Hoefsloot LH; Department of Clinical Genetics, Erasmus MC, University Medical Center Rotterdam, Rotterdam, The Netherlands.; van Vliet M; Department of Clinical Genetics, Erasmus MC, University Medical Center Rotterdam, Rotterdam, The Netherlands.; ENCORE Expertise Center for Neurodevelopmental Disorders, Erasmus MC, Rotterdam, The Netherlands.; van Bever Y; Department of Clinical Genetics, Erasmus MC, University Medical Center Rotterdam, Rotterdam, The Netherlands.; van de Laar I; Department of Clinical Genetics, Erasmus MC, University Medical Center Rotterdam, Rotterdam, The Netherlands.; Aten E; Department of Clinical Genetics, Leiden University Medical Center, Leiden, The Netherlands.; Lachmeijer AMA; Department of Genetics, Division Laboratories, Pharmacy and Biomedical Genetics, University Medical Center Utrecht, Utrecht, The Netherlands.; Taal W; ENCORE Expertise Center for Neurodevelopmental Disorders, Erasmus MC, Rotterdam, The Netherlands.; Department of Neurology, Erasmus Medical Center, Rotterdam, The Netherlands.; van den Bersselaar L; Department of Clinical Genetics, Erasmus MC, University Medical Center Rotterdam, Rotterdam, The Netherlands.; Schuurmans J; Department of Genetics, Division Laboratories, Pharmacy and Biomedical Genetics, University Medical Center Utrecht, Utrecht, The Netherlands.; Oostenbrink R; ENCORE Expertise Center for Neurodevelopmental Disorders, Erasmus MC, Rotterdam, The Netherlands.; Department of General Pediatrics, Erasmus MC-Sophia Children's Hospital, Rotterdam, The Netherlands.; van Minkelen R; Department of Clinical Genetics, Erasmus MC, University Medical Center Rotterdam, Rotterdam, The Netherlands.; ENCORE Expertise Center for Neurodevelopmental Disorders, Erasmus MC, Rotterdam, The Netherlands.; van Ierland Y; Department of Clinical Genetics, Erasmus MC, University Medical Center Rotterdam, Rotterdam, The Netherlands.; ENCORE Expertise Center for Neurodevelopmental Disorders, Erasmus MC, Rotterdam, The Netherlands.; van Ham TJ; Department of Clinical Genetics, Erasmus MC, University Medical Center Rotterdam, Rotterdam, The Netherlands.

Publisher: Wiley-Liss Country of Publication: United States NLM ID: 9215429 Publication Model: Print-Electronic Cited Medium: Internet ISSN: 1098-1004 (Electronic) Linking ISSN: 10597794 NLM ISO Abbreviation: Hum Mutat Subsets: MEDLINE

Haarman AEG; Department of Ophthalmology, Erasmus MC, 3000 CA, Rotterdam, The Netherlands.; Department of Epidemiology, Erasmus MC, 3000 CA, Rotterdam, The Netherlands.; Thiadens AAHJ; Department of Ophthalmology, Erasmus MC, 3000 CA, Rotterdam, The Netherlands.; van Tienhoven M; Department of Clinical Genetics, Erasmus MC, 3000 CA, Rotterdam, The Netherlands.; Loudon SE; Department of Ophthalmology, Erasmus MC, 3000 CA, Rotterdam, The Netherlands.; de Klein JEMMA; Department of Clinical Genetics, Erasmus MC, 3000 CA, Rotterdam, The Netherlands.; Brosens E; Department of Clinical Genetics, Erasmus MC, 3000 CA, Rotterdam, The Netherlands.; Polling JR; Department of Ophthalmology, Erasmus MC, 3000 CA, Rotterdam, The Netherlands.; Department of Orthoptics, School of Applied Science Utrecht, 3584 CH, Utrecht, The Netherlands.; van der Schoot V; Department of Clinical Genetics, Erasmus MC, 3000 CA, Rotterdam, The Netherlands.; Bouman A; Department of Clinical Genetics, Erasmus MC, 3000 CA, Rotterdam, The Netherlands.; Kievit AJA; Department of Clinical Genetics, Erasmus MC, 3000 CA, Rotterdam, The Netherlands.; Hoefsloot LH; Department of Clinical Genetics, Erasmus MC, 3000 CA, Rotterdam, The Netherlands.; Klaver CCW; Department of Ophthalmology, Erasmus MC, 3000 CA, Rotterdam, The Netherlands.; Department of Epidemiology, Erasmus MC, 3000 CA, Rotterdam, The Netherlands.; Department of Ophthalmology, Radboud University Medical Center, 6525 GA, Nijmegen, The Netherlands.; Molecular research Center, Institute of Molecular and Clinical Ophthalmology, University of Basel, 4056, Switzerland.; Verhoeven VJM; Department of Ophthalmology, Erasmus MC, 3000 CA, Rotterdam, The Netherlands.; Department of Clinical Genetics, Erasmus MC, 3000 CA, Rotterdam, The Netherlands.

Publisher: IRL Press at Oxford University Press Country of Publication: England NLM ID: 9208958 Publication Model: Print Cited Medium: Internet ISSN: 1460-2083 (Electronic) Linking ISSN: 09646906 NLM ISO Abbreviation: Hum Mol Genet Subsets: MEDLINE

Heutinck PAT; Department of Ophthalmology, Erasmus MC, University Medical Center, Rotterdam, the Netherlands.; van den Born LI; The Rotterdam Eye Hospital and Rotterdam Ophthalmic Institute, Rotterdam, the Netherlands.; Vermeer M; Department of Ophthalmology, Erasmus MC, University Medical Center, Rotterdam, the Netherlands.; Department of Epidemiology, Erasmus MC, University Medical Center, Rotterdam, the Netherlands.; Iglesias Gonzales AI; Department of Clinical Genetics, Erasmus MC, University Medical Center, Rotterdam, the Netherlands.; Hoyng CB; Department of Ophthalmology, Radboud University Medical Center, Nijmegen, the Netherlands.; Pott JWR; Department of Ophthalmology, University Medical Center Groningen, University of Groningen, Groningen, the Netherlands.; Kroes HY; Department of Clinical Genetics, University Medical Center Utrecht, Utrecht, the Netherlands.; van Schooneveld MJ; Department of Ophthalmology, Amsterdam University Medical Center, Amsterdam, the Netherlands.; Bartiméus Diagnostic Center for Complex Visual Disorders, Zeist, the Netherlands.; Boon CJF; Department of Ophthalmology, Amsterdam University Medical Center, Amsterdam, the Netherlands.; Department of Ophthalmology, Leiden University Medical Center, Leiden, the Netherlands.; van Genderen MM; Bartiméus Diagnostic Center for Complex Visual Disorders, Zeist, the Netherlands.; Department of Ophthalmology, University Medical Center Utrecht, Utrecht, the Netherlands.; Plomp AS; Department of Human Genetics, Amsterdam Reproduction & Development, Amsterdam UMC, University of Amsterdam, the Netherlands.; de Jong-Hesse Y; Department of Ophthalmology, Amsterdam University Medical Center, Amsterdam, the Netherlands.; Department of Ophthalmology, Leiden University Medical Center, Leiden, the Netherlands.; van Egmond-Ebbeling MB; Department of Ophthalmology, University Medical Center Utrecht, Utrecht, the Netherlands.; Hoefsloot LH; Department of Clinical Genetics, Erasmus MC, University Medical Center, Rotterdam, the Netherlands.; A Bergen A; Department of Human Genetics, Amsterdam Reproduction & Development, Amsterdam UMC, University of Amsterdam, the Netherlands.; Klaver CCW; Department of Ophthalmology, Erasmus MC, University Medical Center, Rotterdam, the Netherlands.; Department of Epidemiology, Erasmus MC, University Medical Center, Rotterdam, the Netherlands.; Department of Ophthalmology, Radboud University Medical Center, Nijmegen, the Netherlands.; Institute of Molecular and Clinical Ophthalmology, Basel, Switzerland.; Meester-Smoor MA; Department of Ophthalmology, Erasmus MC, University Medical Center, Rotterdam, the Netherlands.; Department of Epidemiology, Erasmus MC, University Medical Center, Rotterdam, the Netherlands.; Thiadens AAHJ; Department of Ophthalmology, Erasmus MC, University Medical Center, Rotterdam, the Netherlands.; Verhoeven VJM; Department of Ophthalmology, Erasmus MC, University Medical Center, Rotterdam, the Netherlands.; Department of Clinical Genetics, Erasmus MC, University Medical Center, Rotterdam, the Netherlands.

Publisher: Association For Research In Vision And Ophthalmology (Arvo) Country of Publication: United States NLM ID: 7703701 Publication Model: Print Cited Medium: Internet ISSN: 1552-5783 (Electronic) Linking ISSN: 01460404 NLM ISO Abbreviation: Invest Ophthalmol Vis Sci Subsets: MEDLINE

van Mazijk R; Department of Clinical Genetics, Erasmus Medical Centre, Rotterdam, The Netherlands.; Haarman AEG; Department of Ophthalmology, Erasmus Medical Centre, Rotterdam, The Netherlands.; Department of Epidemiology, Erasmus Medical Centre, Rotterdam, The Netherlands.; Hoefsloot LH; Department of Clinical Genetics, Erasmus Medical Centre, Rotterdam, The Netherlands.; Polling JR; Department of Ophthalmology, Erasmus Medical Centre, Rotterdam, The Netherlands.; van Tienhoven M; Department of Clinical Genetics, Erasmus Medical Centre, Rotterdam, The Netherlands.; Klaver CCW; Department of Ophthalmology, Erasmus Medical Centre, Rotterdam, The Netherlands.; Department of Epidemiology, Erasmus Medical Centre, Rotterdam, The Netherlands.; Department of Ophthalmology, Radboud University Medical Center, Nijmegen, The Netherlands.; Institute of Molecular and Clinical Ophthalmology, University of Basel, Basel, Switzerland.; Verhoeven VJM; Department of Clinical Genetics, Erasmus Medical Centre, Rotterdam, The Netherlands.; Department of Ophthalmology, Erasmus Medical Centre, Rotterdam, The Netherlands.; Loudon SE; Department of Ophthalmology, Erasmus Medical Centre, Rotterdam, The Netherlands.; Thiadens AAHJ; Department of Ophthalmology, Erasmus Medical Centre, Rotterdam, The Netherlands.; Kievit AJA; Department of Clinical Genetics, Erasmus Medical Centre, Rotterdam, The Netherlands.

Publisher: Wiley-Liss Country of Publication: United States NLM ID: 9215429 Publication Model: Print-Electronic Cited Medium: Internet ISSN: 1098-1004 (Electronic) Linking ISSN: 10597794 NLM ISO Abbreviation: Hum Mutat Subsets: MEDLINE

Hoefsloot, LH; Taerhngs, JHAM; Kremer, JAM; Meuleman, EJH

The Lancet. 349(9062):1400-1400