부산대학교 도서관

de, Boer E; Ockeloen, CW; Matalonga, L; Horvath, R; Rodenburg, RJ; Coenen, MJH; Janssen, M; Henssen, D; Gilissen, C; Steyaert, W

EUROPEAN JOURNAL OF HUMAN GENETICS. 29(9):1359-1368

Wincent, J; Bruno, DL; van, Bon BWM; Bremer, A; Stewart, H; Bongers, EMHF; Ockeloen, CW; Willemsen, MH; Keays, DAD; Baird, G

MOLECULAR SYNDROMOLOGY. 1(5):246-254

Low KJ; Centre for Academic Child Health, University of Bristol, Bristol, UK.; Department of Clinical Genetics, UHBW NHS Trust, Bristol, UK.; Martinez-Cayuelas E; Department of Pediatrics, Hospital Universitario Fundación Jiménez Díaz, Madrid, Spain.; Almoguera B; Department of Genetics and Genomics, Fundacion Jimenez Diaz University Hospital, Health Research Institute-Fundacion Jimenez Diaz, Universidad Autonoma de Madrid (IIS-FJD, UAM), Madrid, Spain.; Center for Biomedical Network Research on Rare Diseases (CIBERER), Madrid, Spain.; Marin-Reina P; Dysmorphology and Neonatology Unit, Hospital Universitari i Politècnic La Fe, Valencia, Spain.; Bayat A; Department of Regional Health Research, University of Southern Denmark, Odense, Denmark.; Department of Epilepsy Genetics and Personalized Medicine, Danish Epilepsy Center, Dianalund, Denmark.; Department of Drug Design and Pharmacology, University of Copenhagen, Copenhagen, Denmark.; Ockeloen CW; Department of Human Genetics, Radboud University Medical Center, Nijmegen, the Netherlands.; Cole TJ; UCL Great Ormond Street Institute of Child Health, London, UK.

Publisher: Wiley-Blackwell Country of Publication: United States NLM ID: 101235741 Publication Model: Print-Electronic Cited Medium: Internet ISSN: 1552-4833 (Electronic) Linking ISSN: 15524825 NLM ISO Abbreviation: Am J Med Genet A Subsets: MEDLINE

Aukema SM; Department of Human Genetics, Radboud University Medical Center, Nijmegen, the Netherlands.; Institute of Medical Genetics, University Medicine Oldenburg, Oldenburg, Germany.; Vandenput K; Radboud University Medical Center, Nijmegen, the Netherlands.; Scarano E; Pediatrics Unit, IRCCS Azienda Ospedaliero, Universitaria di Bologna, Bologna, Italy.; Goel H; Hunter Genetics, Waratah, Australia.; University of Newcastle, Callaghan, Australia.; Guo L; Chicago Medical School, North Chicago, Illinois, USA.; Vanneste M; Center for Human Genetics, University Hospitals Leuven, Leuven, Belgium.; Devriendt K; Center for Human Genetics, University Hospitals Leuven, Leuven, Belgium.; Zwaveling-Soonawala N; Department of Pediatric Endocrinology, Emma Children's Hospital, Amsterdam UMC, University of Amsterdam, Amsterdam, the Netherlands.; Kiewert C; Division of Paediatric Endocrinology and Diabetes, Member of ENDO-ERN, University Hospital Essen, University of Duisburg, Essen, Germany.; Kuechler A; Institute of Human Genetics, University Hospital Essen, University Duisburg-Essen, Essen, Germany.; Parenti I; Institute of Human Genetics, University Hospital Essen, University Duisburg-Essen, Essen, Germany.; Orlandini E; Specialty School of Pediatrics, Alma Mater University of Bologna, Bologna, Italy.; de Boer E; Department of Human Genetics, Radboud University Medical Center, Nijmegen, the Netherlands.; Banka S; Division of Evolution, Infection and Genomics, School of Biological Sciences, Faculty of Biology, Medicine and Health, University of Manchester, Manchester, UK.; Manchester Centre for Genomic Medicine, St. Mary's Hospital, Health Innovation Manchester, Manchester, UK.; Wall E; Manchester Centre for Genomic Medicine, St. Mary's Hospital, Health Innovation Manchester, Manchester, UK.; West Midlands Regional Genetics Service, Birmingham Women's and Children's Hospital, Birmingham, UK.; Lyon GJ; Department of Human Genetics, New York State Institute for Basic Research in Developmental Disabilities, Staten Island, New York, USA.; George A. Jervis Clinic, New York State Institute for Basic Research in Developmental Disabilities, Staten Island, New York, USA.; Biology PhD Program, The Graduate Center, The City University of New York, New York, New York, USA.; Low KJ; Department of Clinical Genetics, University Hospital Bristol and Weston NHS Foundation Trust, Bristol, UK.; Bristol Medical School, University of Bristol, Bristol, UK.; Geelen JM; Department of Pediatrics, Amalia Children's Hospital, Radboud University Medical Center, Nijmegen, the Netherlands.; van der Zwan YG; Department of Pediatric Endocrinology, Amalia Children's Hospital, Radboud University Medical Center, Nijmegen, the Netherlands.; Department of Paediatrics, Isala, Zwolle, the Netherlands.; Ockeloen CW; Department of Human Genetics, Radboud University Medical Center, Nijmegen, the Netherlands.

Publisher: Wiley-Blackwell Country of Publication: United States NLM ID: 101235741 Publication Model: Print-Electronic Cited Medium: Internet ISSN: 1552-4833 (Electronic) Linking ISSN: 15524825 NLM ISO Abbreviation: Am J Med Genet A Subsets: MEDLINE

Woods E; Sheffield Clinical Genetics Service, Sheffield Children's Hospital, Sheffield, UK.; Division of Clinical Medicine, School of Medicine and Population Health, University of Sheffield, Sheffield, UK.; Holmes N; Sheffield Diagnostic Genetics Service, Sheffield Children's Hospital, Sheffield, UK.; Denommé-Pichon AS; Centre Hospitalier Regional Universitaire De Dijon, Dijon, France.; Vincent M; Centre Hospitalier Regional Universitaire De Dijon, Dijon, France.; Belova N; Clinical Genetics Service, Centre for Congenital Pathology, Moscow, Russia.; Gooch C; Washington University, St Louis, USA.; Isidor B; Centre Hospitalier Universitaire de Nantes, Nantes, France.; Ockeloen CW; Department of Human Genetics, Radboud University Medical Center, Nijmegen, the Netherlands.; Pavlidou E; Department of Paediatric Speech and Language Therapy, University of Ionnina, Ionnina, Greece.; Stewart H; Oxford Centre for Genomic Medicine, Oxford University Hospitals NHS Foundation Trust, Oxford, UK.; Verhoeven VJM; Department of Clinical Genetics, Erasmus University Medical Centre, Rotterdam, the Netherlands.; Ververi A; Department of Genetics for Rare Diseases, Papageorgiou General Hospital, Thessaloniki, Greece.; Dixit A; Nottingham Clinical Genetics Service, Nottingham City Hospital, Nottingham, UK.; Sarkar A; Nottingham Clinical Genetics Service, Nottingham City Hospital, Nottingham, UK.; Legg R; East Anglian Medical Genetics Service, Addenbrookes Hospital, Cambridge, UK.; Reid E; East Anglian Medical Genetics Service, Addenbrookes Hospital, Cambridge, UK.; Balasubramanian M; Sheffield Clinical Genetics Service, Sheffield Children's Hospital, Sheffield, UK.; Division of Clinical Medicine, School of Medicine and Population Health, University of Sheffield, Sheffield, UK.; The Bateson Centre, University of Sheffield, Sheffield, UK.

Publisher: Wiley-Blackwell Country of Publication: United States NLM ID: 101235741 Publication Model: Print-Electronic Cited Medium: Internet ISSN: 1552-4833 (Electronic) Linking ISSN: 15524825 NLM ISO Abbreviation: Am J Med Genet A Subsets: MEDLINE

Low KJ; Centre for Academic Child Health, Bristol Medical School, University of Bristol, Bristol, UK. Karen.low@bristol.ac.uk.; Department of Clinical Genetics, UHBW NHS Trust, Bristol, UK. Karen.low@bristol.ac.uk.; Foreman J; European Molecular Biology Laboratory, European Bioinformatics Institute, Wellcome Genome Campus, Hinxton, Cambridge, UK.; Hobson RJ; DDD team, Wellcome Sanger Institute, Hinxton, Cambridge, UK.; Kwuo H; Centre for Academic Child Health, Bristol Medical School, University of Bristol, Bristol, UK.; Martinez-Cayuelas E; Department of Pediatrics, Hospital Universitario Fundación Jiménez Díaz, Madrid, Spain.; Almoguera B; Department of Genetics and Genomics, Fundacion Jimenez Diaz University Hospital, Health Research Institute-Fundacion Jimenez Diaz, Universidad Autonoma de Madrid (IIS-FJD UAM), Madrid, Spain.; Center for Biomedical Network Research on Rare Diseases (CIBERER), Madrid, Spain.; Marin-Reina P; Dysmorphology and Neonatology Unit. Hospital Universitari i Politècnic La Fe, Valencia, Spain.; Caraffi SG; Medical Genetics Unit, Azienda USL-IRCCS di Reggio Emilia, Reggio Emilia, Italy.; Garavelli L; Medical Genetics Unit, Azienda USL-IRCCS di Reggio Emilia, Reggio Emilia, Italy.; Woods E; Division of Clinical Medicine, University of Sheffield, Sheffield, UK.; Department of Clinical Genetics, Sheffield Children's Hospital, Sheffield, UK.; Balasubramanian M; Division of Clinical Medicine, University of Sheffield, Sheffield, UK.; Department of Clinical Genetics, Sheffield Children's Hospital, Sheffield, UK.; Bayat A; Department of Regional Health Research, University of Southern Denmark, Odense, Denmark.; Department of Epilepsy Genetics and Personalized Medicine, Danish Epilepsy Center, Dianalund, Denmark.; Department of Drug Design and Pharmacology, University of Copenhagen, Copenhagen, Denmark.; Ockeloen CW; Department of Human Genetics, Radboud University Medical Center, Nijmegen, The Netherlands.; Wright CM; Department of Human Nutrition, School of Medicine, Dentistry and Nursing, University of Glasgow, Glasgow, UK.; Firth HV; European Molecular Biology Laboratory, European Bioinformatics Institute, Wellcome Genome Campus, Hinxton, Cambridge, UK.; Department of Clinical Genetics, Addenbrookes Hospital, Cambridge, UK.; Cole TJ; UCL Great Ormond Street Institute of Child Health, London, UK.

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

Kennis MGP; Department of Human Genetics, Radboudumc, Nijmegen, The Netherlands. milou.kennis@radboudumc.nl.; Rots D; Department of Human Genetics, Radboudumc, Nijmegen, The Netherlands.; Department of Clinical Genetics, Erasmus MC University Medical Center, Rotterdam, The Netherlands.; Children's Clinical University Hospital, Riga, Latvia.; Bouman A; Department of Clinical Genetics, Erasmus MC University Medical Center, Rotterdam, The Netherlands.; Ockeloen CW; Department of Human Genetics, Radboudumc, Nijmegen, The Netherlands.; Boelen C; Department of Pediatrics, Admiraal De Ruyter Ziekenhuis, Goes, Zeeland, The Netherlands.; Marcelis CLM; Department of Human Genetics, Radboudumc, Nijmegen, The Netherlands.; de Vries BBA; Department of Human Genetics, Radboudumc, Nijmegen, The Netherlands.; Elting MW; Department of Human Genetics, Amsterdam UMC, Amsterdam, The Netherlands.; Waisfisz Q; Department of Human Genetics, Amsterdam UMC, Amsterdam, The Netherlands.; Suri M; Department of Clinical Genetics, Nottingham University Hospitals NHS Trust, Nottingham, UK.; Font-Montgomery E; Department of Pediatrics/Genetics/Metabolism Disorders, Children's Hospital of Michigan, Detroit, MI, USA.; Peck DS; Department of Pediatrics, University of Missouri School of Medicine, Columbia, MO, USA.; Donnelly DE; Northern Ireland Regional Genetics Centre, Belfast Health and Social Care Trust, Belfast, Northern Ireland.; Rogers RC; Greenwood Genetic Center, Greenwood, SC, USA.; Richardson R; Northern Genetics Service, Newcastle upon Tyne hospitals NHS Foundation Trust, Newcastle Upon Tyne, UK.; Caumes R; CHU Lille, Clinique de génétique Guy Fontaine, F-, 59000, Lille, France.; Chaumette B; Université Paris Cité, Institute of Psychiatry and Neurosciences of Paris (INSERM U1266), GHU Paris Psychiatrie et Neurosciences, Paris, France.; Louveau C; Université Paris Cité, Institute of Psychiatry and Neurosciences of Paris (INSERM U1266), GHU Paris Psychiatrie et Neurosciences, Paris, France.; Sallevelt SCEH; Paediatric and Reproductive Genetics Unit, Women's and Children's Hospital, Adelaide, SA, Australia.; Maas SM; Department of Human Genetics, Amsterdam UMC, Amsterdam, The Netherlands.; Smits JJ; Department of Human Genetics, University Medical Center Utrecht, Utrecht, The Netherlands.; van Haelst MM; Department of Human Genetics, Amsterdam UMC, Amsterdam, The Netherlands.; Levy RJ; Neurology and Neurological Sciences, Division of Child Neurology, Stanford University and Lucile Packard Children's Hospital, Palo Alto, California, USA.; Stewart H; Oxford Centre for Genomic Medicine, Oxford University Hospitals NHS Foundation Trust, Oxford, UK.; Loeys BL; Department of Human Genetics, Radboudumc, Nijmegen, The Netherlands.; Center of Medical Genetics, University of Antwerp and Antwerp University Hospital, Antwerp, Belgium.; Pfundt R; Department of Human Genetics, Radboudumc, Nijmegen, The Netherlands.; Kleefstra T; Department of Human Genetics, Radboudumc, Nijmegen, The Netherlands.; Department of Clinical Genetics, Erasmus MC University Medical Center, Rotterdam, The Netherlands.; Vincent van Gogh Institute for Psychiatry, Centre of Excellence for Neuropsychiatry, Venray, The Netherlands.; Snijders Blok L; Department of Human Genetics, Radboudumc, Nijmegen, The Netherlands. lot.snijdersblok@radboudumc.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

Buijsse N; Department of Medical Genetics, University Medical Center Utrecht, Utrecht, The Netherlands.; Jansen FE; Department of Pediatric Neurology, Brain Center, University Medical Center Utrecht, Utrecht, The Netherlands.; Ockeloen CW; Department of Human Genetics, Radboud University Medical Center, Nijmegen, The Netherlands.; van Kempen MJA; Department of Medical Genetics, University Medical Center Utrecht, Utrecht, The Netherlands.; Zeidler S; Department of Clinical Genetics, Erasmus Medical Center, Rotterdam, The Netherlands.; Willemsen MH; Department of Human Genetics, Radboud University Medical Center, Nijmegen, The Netherlands.; Scarano E; Department of Pediatrics, St. Orsola-Malpighi Hospital, Bologna, Italy.; Monticone S; Department of Pediatrics, Azienda Ospedaliero Universitaria Maggiore della Carità, Novara, Italy.; Zonneveld-Huijssoon E; Department of Genetics, University of Groningen, University Medical Center Groningen, Groningen, The Netherlands.; Low KJ; Department of Clinical Genetics, University Hospitals Bristol and Weston NHS trust, University of Bristol, Bristol, UK.; Bayat A; Department for Genetics and Personalized Medicine, Danish Epilepsy Centre, Dianalund, Denmark.; Institute for Regional Health Services, University of Southern Denmark, Odense, Denmark.; Sisodiya SM; Department of Clinical and Experimental Epilepsy, UCL Queen Square Institute of Neurology and Chalfont Centre for Epilepsy, Chalfont St Peter, UK.; Samanta D; Child Neurology Section, Department of Pediatrics, University of Arkansas for Medical Sciences, Little Rock, Arkansas, USA.; Lesca G; Department of Genetics, University Hospitals of Lyon, Lyon, France.; de Jong D; Department of Neurology, Academic Center for Epileptology Kempenhaeghe/MUMC+, Heeze, The Netherlands.; Giltay JC; Department of Medical Genetics, University Medical Center Utrecht, Utrecht, The Netherlands.; Verbeek NE; Department of Medical Genetics, University Medical Center Utrecht, Utrecht, The Netherlands.; Kleefstra T; Department of Human Genetics, Radboud University Medical Center, Nijmegen, The Netherlands.; Brilstra EH; Department of Medical Genetics, University Medical Center Utrecht, Utrecht, The Netherlands.; Vlaskamp DRM; Department of Pediatrics, University Medical Center Utrecht, Utrecht, The Netherlands.

Publisher: John Wiley & Sons, Inc Country of Publication: United States NLM ID: 101692036 Publication Model: Print-Electronic Cited Medium: Internet ISSN: 2470-9239 (Electronic) Linking ISSN: 24709239 NLM ISO Abbreviation: Epilepsia Open Subsets: MEDLINE

Low KJ; Centre for Academic Child Health, Bristol Medical School, University of Bristol, Bristol, UK.; Clinical Genetics, University Hospitals Bristol and Weston NHS Trust, Bristol, UK.; Walker M; Avon and Wiltshire Mental Health Partnership NHS Trust, Adult ADHD Service, Petherton Resource Centre, Bristol, UK.; Treneman-Evans G; Centre for Academic Child Health, Bristol Medical School, University of Bristol, Bristol, UK.; Bramswig NC; Centre of Medical Genetics, Department of Medical Genetics, University and University Hospital Münster, Münster, Germany.; Herlin MK; Department of Clinical Genetics, Aarhus University Hospital, Aarhus, Denmark.; Lesca G; Department of Medical Genetics, Lyon University Hospitals, Claude Bernard Lyon 1 University, Lyon, France.; Scarano E; Pediatric Unit, IRCCS Azienda Ospedaliero-Universiitaria di Bologna, Bologna, Italy.; Ockeloen CW; Department of Human Genetics, Radboud University Medical Center, Nijmegen, the Netherlands.; Bayat A; Department of Pediatrics, Danish Epilepsy Center, Dianalund, Denmark.; Department of Regional Health Research, University of Southern Denmark, Odense, Denmark.

Publisher: John Wiley & Sons Country of Publication: United States NLM ID: 101570837 Publication Model: Print Cited Medium: Internet ISSN: 2162-3279 (Electronic) NLM ISO Abbreviation: Brain Behav Subsets: MEDLINE

Schmid CM; Department of Human Genetics, Inselspital Bern, University of Bern, Bern, Switzerland.; Department for Biomedical Research (DBMR), University of Bern, Bern, Switzerland.; Gregor A; Department of Human Genetics, Inselspital Bern, University of Bern, Bern, Switzerland.; Department for Biomedical Research (DBMR), University of Bern, Bern, Switzerland.; Ruiz A; Center for Genomic Medicine, Parc Taulí Hospital Universitari, Institut d'Investigació i Innovació Parc Taulí (I3PT-CERCA), Universitat Autònoma de Barcelona, Sabadell, Spain.; Manso Bazús C; Center for Genomic Medicine, Parc Taulí Hospital Universitari, Institut d'Investigació i Innovació Parc Taulí (I3PT-CERCA), Universitat Autònoma de Barcelona, Sabadell, Spain.; Herman I; Department of Molecular and Human Genetics, Baylor College of Medicine, Houston, TX, USA.; Department of Neurosciences, Boystown National Research Hospital, Boystown, TX, USA.; Section of Pediatric Neurology and Developmental Neuroscience, Department of Pediatrics, Baylor College of Medicine, Houston, TX, USA.; Ammouri F; The University of Kansas Health System, Westwood, KS, USA.; Kotzaeridou U; Division of Child Neurology and Inherited Metabolic Diseases, Centre for Pediatrics and Adolescent Medicine, University Hospital Heidelberg, Heidelberg, Germany.; McNiven V; Division of Genetics, Department of Pediatrics, McMaster Children's Hospital, Hamilton, ON, Canada.; Dupuis L; Division of Clinical and Metabolic Genetics, The Hospital for Sick Children, University of Toronto, Toronto, ON, Canada.; Steindl K; Institute of Medical Genetics, University of Zurich, Zurich, Switzerland.; Begemann A; Institute of Medical Genetics, University of Zurich, Zurich, Switzerland.; Rauch A; Institute of Medical Genetics, University of Zurich, Zurich, Switzerland.; Suter AA; Institute of Medical Genetics, University of Zurich, Zurich, Switzerland.; Isidor B; Department of Medical Genetics, CHU Nantes, Nantes, France.; Mercier S; Department of Medical Genetics, CHU Nantes, Nantes, France.; Nizon M; Department of Medical Genetics, CHU Nantes, Nantes, France.; Cogné B; Department of Medical Genetics, CHU Nantes, Nantes, France.; Deb W; Department of Medical Genetics, CHU Nantes, Nantes, France.; Besnard T; Department of Medical Genetics, CHU Nantes, Nantes, France.; Haack TB; Institute of Medical Genetics and Applied Genomics, University of Tübingen, Tübingen, Germany.; Center for Rare Diseases, University of Tübingen, Tübingen, Germany.; Falb RJ; Institute of Medical Genetics and Applied Genomics, University of Tübingen, Tübingen, Germany.; Müller AJ; Institute of Medical Genetics and Applied Genomics, University of Tübingen, Tübingen, Germany.; Linden T; University Children's Hospital, Klinikum Oldenburg, Department of Neuropediatrics, Oldenburg, Germany.; Haldeman-Englert CR; Mission Fullerton Genetics Center, Asheville, NC, USA.; Ockeloen CW; Department of Human Genetics, Radboud University Medical Center, Nijmegen, The Netherlands.; Mattioli F; Center for Integrative Genomics, University of Lausanne, Lausanne, Switzerland.; Reymond A; Center for Integrative Genomics, University of Lausanne, Lausanne, Switzerland.; Ibrahim N; Lahore College for Women University, Lahore, Pakistan.; Naz S; Lahore College for Women University, Lahore, Pakistan.; Lacaze E; Department of Medical Genetics, Le Havre Hospital, Le Havre, France.; Bassetti JA; Division of Medical Genetics, Department of Pediatrics, Weill Cornell Medicine, New York, NY, USA.; Hoefele J; Institute of Human Genetics, Klinikum rechts der Isar, Technical University of Munich, TUM School of Medicine and Health, Munich, Germany.; Brunet T; Institute of Human Genetics, Klinikum rechts der Isar, Technical University of Munich, TUM School of Medicine and Health, Munich, Germany.; Riedhammer KM; Institute of Human Genetics, Klinikum rechts der Isar, Technical University of Munich, TUM School of Medicine and Health, Munich, Germany.; Department of Nephrology, Klinikum rechts der Isar, Technical University of Munich, TUM School of Medicine and Health, Munich, Germany.; Elloumi HZ; GeneDx, Gaithersburg, MD, USA.; Person R; GeneDx, Gaithersburg, MD, USA.; Zou F; GeneDx, Gaithersburg, MD, USA.; Kahle JJ; GeneDx, Gaithersburg, MD, USA.; Cremer K; Institute of Human Genetics, University of Bonn, School of Medicine and University Hospital Bonn, Bonn, Germany.; Schmidt A; Institute of Human Genetics, University of Bonn, School of Medicine and University Hospital Bonn, Bonn, Germany.; Delrue MA; Department of Genetics, Université de Montréal, Sainte-Justine University Hospital, Montreal, Canada.; Almeida PM; Medical Genetics Unit, Hospital Pediátrico de Coimbra, Unidade Local de Saúde de Coimbra, Coimbra, Portugal.; Ramos F; Medical Genetics Unit, Hospital Pediátrico de Coimbra, Unidade Local de Saúde de Coimbra, Coimbra, Portugal.; Centro de Diagnóstico Pré-natal, Unidade Local de Saúde de Coimbra, Coimbra, Portugal.; Srivastava S; Department of Neurology, Boston Children's Hospital and Harvard Medical School, Boston, MA, USA.; Quinlan A; Department of Neurology, Boston Children's Hospital and Harvard Medical School, Boston, MA, USA.; Robertson S; Department of Pediatrics and Child Health, Dunedin School of Medicine, Otago University, Dunedin, New Zealand.; Manka E; Center for Rare Disease Essen (Essener Zentrum für Seltene Erkrankungen-EZSE), Universitätsmedizin Essen, Essen, Germany.; Kuechler A; Institut für Humangenetik, Universitätsklinikum Essen, Universität Duisburg-Essen, Essen, Germany.; Spranger S; Praxis für Humangenetik, Klinikum Bremen-Mitte, Bremen, Germany.; Nowaczyk MJM; Department of Pathology and Molecular Medicine, McMaster University, Hamilton, ON, Canada.; Elshafie RM; Kuwait Medical Genetics Centre, Ministry of Health, Sulaibikhat, Kuwait.; Alsharhan H; Kuwait Medical Genetics Centre, Ministry of Health, Sulaibikhat, Kuwait.; Department of Pediatrics, Health science center, College of Medicine, Kuwait University, P.O. Box 24923, Safat, Kuwait.; Hillman PR; Department of Pediatrics, Division of Medical Genetics, McGovern Medical School at the University of Texas Health Science Center at Houston (UTHealth Houston) and Children's Memorial Hermann Hospital, Houston, TX, USA.; Dunnington LA; Department of Pediatrics, Division of Medical Genetics, McGovern Medical School at the University of Texas Health Science Center at Houston (UTHealth Houston) and Children's Memorial Hermann Hospital, Houston, TX, USA.; Braakman HMH; Department of Pediatric Neurology, Amalia Children's Hospital, Radboud University Medical Center & Donders Institute for Brain, Cognition and Behavior, Nijmegen, The Netherlands.; McKee S; Belfast HSC Trust, Northern Ireland Regional Genetics Service, Belfast, Northern, Ireland.; Moresco A; Division of Clinical Genetics, Pediatric Department, Children's Hospital, London Health Sciences Centre, Western University, London, ON, Canada.; Ignat AD; Division of Clinical Genetics, Pediatric Department, Children's Hospital, London Health Sciences Centre, Western University, London, ON, Canada.; Newbury-Ecob R; Clinical Genetics, University Hospitals Bristol, Southwell St, Bristol, UK.; Banneau G; Department of Medical Genetics, Toulouse University Hospital, Toulouse, France.; Patat O; Department of Medical Genetics, Toulouse University Hospital, Toulouse, France.; Kuerbitz J; Section of Pediatric Neurology and Developmental Neuroscience, Department of Pediatrics, Baylor College of Medicine, Houston, TX, USA.; Cain Pediatric Neurology Research Foundation Laboratories, Jan and Dan Duncan Neurological Research Institute, Texas Children's Hospital, Houston, TX, USA.; Rzucidlo S; Penn State Health Children's Hospital, Department of Pediatrics, Division of Human Genetics, Hershey, PA, USA.; Sell SS; Penn State Health Children's Hospital, Department of Pediatrics, Division of Human Genetics, Hershey, PA, USA.; Gordon P; Penn State Health Children's Hospital, Department of Pediatrics, Division of Human Genetics, Hershey, PA, USA.; Schuhmann S; Institute of Human Genetics, Universitätsklinikum Erlangen, Friedrich-Alexander-Universität Erlangen-Nürnberg, Erlangen, Germany.; Reis A; Institute of Human Genetics, Universitätsklinikum Erlangen, Friedrich-Alexander-Universität Erlangen-Nürnberg, Erlangen, Germany.; Centre for Rare Diseases Erlangen (ZSEER), Erlangen, Germany.; Halleb Y; Le Mans Hospital, Department of Medical Genetics, Le Mans, France.; Stoeva R; Le Mans Hospital, Department of Medical Genetics, Le Mans, France.; Keren B; Department of Genetics, Assistance Publique - Hôpitaux de Paris, Hôpital Pitié-Salpêtrière, Paris, France.; Al Masseri Z; Department of Pediatrics, Medical Genetics Unit, Qatif Central Hospital, Eastern Health Cluster, Dammam, Saudi Arabia.; Tümer Z; Kennedy Center, Department of Clinical Genetics, Copenhagen University Hospital, Rigshospitalet, Copenhagen, Denmark.; Department of Clinical Medicine, Faculty of Health and Medical Sciences, University of Copenhagen, Copenhagen, Denmark.; Hammer-Hansen S; Department of Clinical Genetics, Copenhagen University Hospital, Rigshospitalet, Copenhagen, Denmark.; Krüger Sølyst S; Department of Clinical Genetics, Copenhagen University Hospital, Rigshospitalet, Copenhagen, Denmark.; Steigerwald CG; Division of Neurogenetics, Department of Neurology, NYU Grossman School of Medicine, New York, NY, USA.; Abreu NJ; Division of Neurogenetics, Department of Neurology, NYU Grossman School of Medicine, New York, NY, USA.; Faust H; Institute of Human Genetics, University of Leipzig Medical Center, Leipzig, Germany.; Müller-Nedebock A; Institute of Human Genetics, University of Leipzig Medical Center, Leipzig, Germany.; Tran Mau-Them F; Unité Fonctionnelle Innovation en Diagnostic Génomique des Maladies Rares, CHU Dijon Bourgogne, Dijon, France.; Génétique des Anomalies Du Développement, INSERM 123, Université de Bourgogne, Dijon, France.; Sticht H; Institut für Biochemie, Friedrich-Alexander-Universität Erlangen-Nürnberg, Erlangen, Germany.; Zweier C; Department of Human Genetics, Inselspital Bern, University of Bern, Bern, Switzerland. christiane.zweier@insel.ch.; Department for Biomedical Research (DBMR), University of Bern, Bern, Switzerland. christiane.zweier@insel.ch.

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

Koolen DA; Pfundt R; Linda K; Beunders G; Veenstra Knol HE; Conta JH; Fortuna AM; Gillessen Kaesbach G; Dugan S; Halbach S; Abdul Rahman OA; Winesett HM; Chung WK; Dalton M; Dimova PS; MATTINA, Teresa; Prescott K; Zhang HZ; Saal HM; Hehir Kwa JY; Willemsen MH; Ockeloen CW; Jongmans MC; Van der Aa N; Failla P; Barone C; Avola E; Brooks AS; Kant SG; Gerkes EH; Firth HV; Õunap K; Bird LM; Masser Frye D; Friedman JR; Sokunbi MA; Dixit A; Splitt M; DDD Study; Kukolich MK; McGaughran J; Coe BP; Flórez J; Nadif Kasri N; Brunner HG; Thompson EM; Gecz J; Romano C; Eichler EE; de Vries B.B.

European Journal of Human Genetics, 24, 5, pp. 652-9
European journal of human genetics
European Journal of Human Genetics, vol 24, iss 5

Ockeloen, CW; Willemsen, MH; de, Munnik S; van, Bon BWM; de, Leeuw N; Verrips, A; Kant, SG; Jones, EA; Brunner, HG; van, Loon RLE

EUROPEAN JOURNAL OF HUMAN GENETICS. 23(9):1176-1185

Teunissen MWA; Department of Neurology, Maastricht University Medical Center, Maastricht, HX 6229, The Netherlands.; Academic Center for Epileptology Kempenhaeghe/Maastricht University Medical Center, Heeze 5591 VE, The Netherlands.; Lewerissa E; Department of Human Genetics, Radboudumc, Donders Institute for Brain, Cognition, and Behaviour, Nijmegen, HB 6500, the Netherlands.; van Hugte EJH; Department of Human Genetics, Radboudumc, Donders Institute for Brain, Cognition, and Behaviour, Nijmegen, HB 6500, the Netherlands.; Wang S; Department of Human Genetics, Radboudumc, Donders Institute for Brain, Cognition, and Behaviour, Nijmegen, HB 6500, the Netherlands.; Ockeloen CW; Department of Human Genetics, Radboud University Medical Center, Nijmegen, GA 6525, the Netherlands.; Koolen DA; Department of Human Genetics, Radboudumc, Donders Institute for Brain, Cognition, and Behaviour, Nijmegen, HB 6500, the Netherlands.; Pfundt R; Department of Human Genetics, Radboud University Medical Center, Nijmegen, GA 6525, the Netherlands.; Marcelis CLM; Department of Human Genetics, Radboud University Medical Center, Nijmegen, GA 6525, the Netherlands.; Brilstra E; Department of Human Genetics, University Medical Center Utrecht, Utrecht, CX 3584, The Netherlands.; Howe JL; The Centre for Applied Genomics and Genetics and Genome Biology, The Hospital for Sick Children, Toronto, ON M5G 1X8, Canada.; Scherer SW; The Centre for Applied Genomics and Genetics and Genome Biology, The Hospital for Sick Children, Toronto, ON M5G 1X8, Canada.; McLaughlin Centre and Department of Molecular Genetics, University of Toronto, Toronto, ON M5S 3H7, Canada.; Le Guillou X; Department of Medical Genetics, Centre Hospitalier Universitaire de Poitiers, Poitiers 86000, France.; Bilan F; Department of Medical Genetics, Centre Hospitalier Universitaire de Poitiers, Poitiers 86000, France.; Laboratory of Experimental and Clinical Neurosciences University of Poitiers, INSERM U1084, Poitiers 86000, France.; Primiano M; Department of Clinical Genetics, Morgan Stanley Children's Hospital of New York-Presbytarian, New York, NY, 10032, USA.; Roohi J; Department of Clinical Genetics, Morgan Stanley Children's Hospital of New York-Presbytarian, New York, NY, 10032, USA.; Clinical Genetics, Kaiser Permanente Mid-Atlantic Permanente Medical Group, Rockville, MD 20852, USA.; Piton A; Laboratoire de Diagnostic Génétique, Institut de Génétique Médicale d'Alsace (IGMA), Hôspitaux Universitaire de Strasbourg, Strasbourg, BP 426 67091, France.; Institut de Génétique et de Biologie Moléculaire et Cellulaire, Illkirch 67400, France.; de Saint Martin A; Institut de Génétique et de Biologie Moléculaire et Cellulaire, Illkirch 67400, France.; Department of Pediatric Neurology, Strasbourg University Hospital, Hôspital de Hautepierre, Strasbourg, BP 426 67091, France.; Baer S; Institut de Génétique et de Biologie Moléculaire et Cellulaire, Illkirch 67400, France.; Department of Pediatric Neurology, Strasbourg University Hospital, Hôspital de Hautepierre, Strasbourg, BP 426 67091, France.; Seiffert S; Department of Neurology and Epileptology, Hertie Institute for Clinical Brain Research, Tuebingen, 72076, Germany.; Platzer K; Institute of Human Genetics, University Medical Center Leipzig, Leipzig 04103, Germany.; Jamra RA; Institute of Human Genetics, University Medical Center Leipzig, Leipzig 04103, Germany.; Syrbe S; Division of Paediatric Epileptology, Centre for Paediatric and Adolescent Medicine, University Hospital Heidelberg, Heidelberg 69120, Germany.; Doering JH; Division of Paediatric Epileptology, Centre for Paediatric and Adolescent Medicine, University Hospital Heidelberg, Heidelberg 69120, Germany.; Lakhani S; Department of neurogenetics, Weill Cornell Medicine, Brain and Mind Research Institute, New York, NY, 10065, USA.; Nangia S; Department of Pediatrics, Division of Child Neurology, New York Presbyterian Hospital-Weill Cornell Medical Center, New York, NY, 10032, USA.; Gilissen C; Department of Human Genetics, Radboud University Medical Center, Nijmegen, GA 6525, the Netherlands.; Vermeulen RJ; Department of Neurology, Maastricht University Medical Center, Maastricht, HX 6229, The Netherlands.; Rouhl RPW; Department of Neurology, Maastricht University Medical Center, Maastricht, HX 6229, The Netherlands.; Academic Center for Epileptology Kempenhaeghe/Maastricht University Medical Center, Heeze 5591 VE, The Netherlands.; School for Mental Health and Neuroscience, Maastricht University, Maastricht, MD 6200, the Netherlands.; Brunner HG; Academic Center for Epileptology Kempenhaeghe/Maastricht University Medical Center, Heeze 5591 VE, The Netherlands.; Department of Human Genetics, Radboudumc, Donders Institute for Brain, Cognition, and Behaviour, Nijmegen, HB 6500, the Netherlands.; School for Mental Health and Neuroscience, Maastricht University, Maastricht, MD 6200, the Netherlands.; Department of Clinical Genetics and GROW School for Oncology and Developmental Biology, Maastricht University Medical Centre+, Maastricht, MD 6299, the Netherlands.; Willemsen MH; Department of Human Genetics, Radboud University Medical Center, Nijmegen, GA 6525, the Netherlands.; Nadif Kasri N; Department of Human Genetics, Radboudumc, Donders Institute for Brain, Cognition, and Behaviour, Nijmegen, HB 6500, 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

Reynaert, N; Ockeloen, CW; Savendahl, L; Beckers, D; Devriendt, K; Kleefstra, T; Carels, CEL; Grigelioniene, G; Nordgren, A; Francois, I

HORMONE RESEARCH IN PAEDIATRICS. 83(5):361-364

Ockeloen CW; Department of Human Genetics, 6034Radboud University Medical Center, The Netherlands.; Raaijmakers A; Faculty of Science, 6029Radboud University, The Netherlands.; Hijmans-van der Vegt M; Department of Medical Oncology, 6034Radboud University Medical Center, The Netherlands.; Bierau J; Department of Clinical Genetics, Erasmus Medical Centre, Rotterdam, The Netherlands.; Department of Clinical Genetics, 199236Maastricht University Medical Center+, The Netherlands.; de Vos-Geelen J; Department of Internal Medicine, Division of Medical Oncology, GROW - School for Oncology and Developmental Biology, 199236Maastricht University Medical Center+, The Netherlands.; Willemsen AE; Department of Internal Medicine, 3913Tergooi MC, The Netherlands.; van den Bosch BJ; Department of Clinical Genetics, Erasmus Medical Centre, Rotterdam, The Netherlands.; Coenen MJ; Department of Human Genetics, 6034Radboud University Medical Center, Radboud Institute for Health Sciences, The Netherlands.

Publisher: SAGE Publications Country of Publication: England NLM ID: 9511372 Publication Model: Print-Electronic Cited Medium: Internet ISSN: 1477-092X (Electronic) Linking ISSN: 10781552 NLM ISO Abbreviation: J Oncol Pharm Pract Subsets: MEDLINE

Schirwani S; Department of Oncology & Metabolism, University of Sheffield, Sheffield, UK.; Sheffield Clinical Genetics Service, Sheffield Children's NHS Foundation Trust, Sheffield, UK.; Woods E; Sheffield Clinical Genetics Service, Sheffield Children's NHS Foundation Trust, Sheffield, UK.; Koolen DA; Department of Human Genetics, Donders Institute for Brain, Cognition and Behavior, Radboud University Medical Center, Nijmegen, Netherlands.; Ockeloen CW; Department of Human Genetics, Donders Institute for Brain, Cognition and Behavior, Radboud University Medical Center, Nijmegen, Netherlands.; Lynch SA; Department of Clinical Genetics, Children's Health Ireland, Dublin, Ireland.; Kavanagh K; Department of Clinical Genetics, Children's Health Ireland, Dublin, Ireland.; Graham JM Jr; Division of Medical Genetics, Department of Pediatrics, Cedars-Sinai Medical Center, Los Angeles, California, USA.; Grand K; Division of Medical Genetics, Department of Pediatrics, Cedars-Sinai Medical Center, Los Angeles, California, USA.; Pierson TM; Department of Pediatrics, Cedars-Sinai Medical Center, Los Angeles, California, USA.; Department of Neurology, Cedars-Sinai Medical Center, Los Angeles, California, USA.; Cedars-Sinai Center for the Undiagnosed Patient, Cedars-Sinai Medical Center, Los Angeles, California, USA.; Board of Governors Regenerative Medicine Institute, Cedars-Sinai Medical Center, Los Angeles, California, USA.; Chung JM; Department of Neurology, Cedars-Sinai Medical Center, Los Angeles, California, USA.; Balasubramanian M; Department of Oncology & Metabolism, University of Sheffield, Sheffield, UK.; Sheffield Clinical Genetics Service, Sheffield Children's NHS Foundation Trust, Sheffield, UK.

Publisher: Wiley-Blackwell Country of Publication: United States NLM ID: 101235741 Publication Model: Print-Electronic Cited Medium: Internet ISSN: 1552-4833 (Electronic) Linking ISSN: 15524825 NLM ISO Abbreviation: Am J Med Genet A Subsets: MEDLINE

Wortmann SB; Radboud Center for Mitochondrial and Metabolic Medicine, Department of Pediatrics, Amalia Children's Hospital, Radboud University Medical Center, Nijmegen, The Netherlands.; University Children's Hospital, Paracelsus Medical University, Salzburg, Austria.; Oud MM; United for Metabolic Diseases, Amsterdam, The Netherlands.; Department of Human Genetics, Donders Institute for Brain, Cognition and Behaviour, Radboud University Medical Center, Nijmegen, The Netherlands.; Alders M; Department of Human Genetics, Amsterdam UMC, University of Amsterdam, Amsterdam Reproduction and Development Research Institute, Amsterdam, The Netherlands.; Coene KLM; United for Metabolic Diseases, Amsterdam, The Netherlands.; Translational Metabolic Laboratory, Department of Laboratory Medicine, Radboud University Medical Center, Nijmegen, The Netherlands.; van der Crabben SN; Department of Human Genetics, Amsterdam University Medical Centers, University of Amsterdam, Amsterdam, The Netherlands.; Feichtinger RG; University Children's Hospital, Paracelsus Medical University, Salzburg, Austria.; Garanto A; Radboud Center for Mitochondrial and Metabolic Medicine, Department of Pediatrics, Amalia Children's Hospital, Radboud University Medical Center, Nijmegen, The Netherlands.; Department of Pediatrics, Amalia Children's Hospital, Radboud Institute for Molecular Lifesciences, Nijmegen, The Netherlands.; Department of Human Genetics, Radboud Institute for Molecular Lifesciences, Nijmegen, The Netherlands.; Hoischen A; Department of Human Genetics, Department of Internal Medicine and Radboud Center for Infectious Diseases, Radboud Institute of Medical Life Sciences, Radboud University Medical Center, Nijmegen, the Netherlands.; Langeveld M; Department of Endocrinology and Metabolism, Amsterdam University Medical Centers, location AMC, University of Amsterdam, Amsterdam, The Netherlands.; Lefeber D; United for Metabolic Diseases, Amsterdam, The Netherlands.; Translational Metabolic Laboratory, Department of Laboratory Medicine, Radboud University Medical Center, Nijmegen, The Netherlands.; Department of Neurology, Donders Institute for Brain, Cognition and Behaviour, Radboud University Medical Center, Nijmegen, The Netherlands.; Mayr JA; University Children's Hospital, Paracelsus Medical University, Salzburg, Austria.; Ockeloen CW; Department of Human Genetics, Radboud Institute for Molecular Lifesciences, Nijmegen, The Netherlands.; Prokisch H; School of Medicine, Institute of Human Genetics, Technical University Munich and Institute of Neurogenomics, Neuherberg, Germany.; Rodenburg R; Radboud Center for Mitochondrial and Metabolic Medicine, Translational Metabolic Laboratory, Department of Pediatrics, Radboud University Medical Center, Nijmegen, The Netherlands.; Waterham HR; United for Metabolic Diseases, Amsterdam, The Netherlands.; Laboratory Genetic Metabolic Diseases, Department of Clinical Chemistry, Amsterdam University Medical Centers, location AMC, University of Amsterdam, Amsterdam, The Netherlands.; Wevers RA; United for Metabolic Diseases, Amsterdam, The Netherlands.; Translational Metabolic Laboratory, Department of Laboratory Medicine, Radboud University Medical Center, Nijmegen, The Netherlands.; van de Warrenburg BPC; Department of Neurology, Donders Institute for Brain, Cognition and Behaviour, Radboud University Medical Center, Nijmegen, The Netherlands.; Willemsen MAAP; Departments of Pediatric Neurology and Pediatrics, Amalia Children's Hospital, Donders Institute for Brain, Cognition and Behavior, Radboud University Medical Center, Nijmegen, The Netherlands.; Wolf NI; Amsterdam Leukodystrophy Center, Department of Child Neurology, Emma Children's Hospital, Amsterdam University Medical Centers, Vrije Universiteit Amsterdam, Amsterdam, The Netherlands.; Vissers LELM; Department of Human Genetics, Donders Institute for Brain, Cognition and Behaviour, Radboud University Medical Center, Nijmegen, The Netherlands.; van Karnebeek CDM; Radboud Center for Mitochondrial and Metabolic Medicine, Department of Pediatrics, Amalia Children's Hospital, Radboud University Medical Center, Nijmegen, The Netherlands.; United for Metabolic Diseases, Amsterdam, The Netherlands.; Department of Human Genetics, Amsterdam UMC, University of Amsterdam, Amsterdam Reproduction and Development Research Institute, Amsterdam, The Netherlands.; Department of Pediatrics, Emma Center for Personalized Medicine, Amsterdam University Medical Centers, Amsterdam, Amsterdam Genetics Endocrinology Metabolism Research Institute, University of Amsterdam, Amsterdam, The Netherlands.

Publisher: Wiley Country of Publication: United States NLM ID: 7910918 Publication Model: Print-Electronic Cited Medium: Internet ISSN: 1573-2665 (Electronic) Linking ISSN: 01418955 NLM ISO Abbreviation: J Inherit Metab Dis Subsets: MEDLINE

Reurink J; Department of Human Genetics, Radboud University Medical Center, Nijmegen, The Netherlands.; Donders Institute for Brain Cognition and Behaviour, Radboud University Medical Center, Nijmegen, The Netherlands.; de Vrieze E; Donders Institute for Brain Cognition and Behaviour, Radboud University Medical Center, Nijmegen, The Netherlands.; Department of Otorhinolaryngology, Radboud University Medical Center, Nijmegen, The Netherlands.; Li CHZ; Donders Institute for Brain Cognition and Behaviour, Radboud University Medical Center, Nijmegen, The Netherlands.; Department of Ophthalmology, Radboud University Medical Center, Nijmegen, The Netherlands.; van Berkel E; Department of Human Genetics, Radboud University Medical Center, Nijmegen, The Netherlands.; Broekman S; Department of Otorhinolaryngology, Radboud University Medical Center, Nijmegen, The Netherlands.; Aben M; Department of Human Genetics, Radboud University Medical Center, Nijmegen, The Netherlands.; Peters T; Department of Otorhinolaryngology, Radboud University Medical Center, Nijmegen, The Netherlands.; Oostrik J; Department of Otorhinolaryngology, Radboud University Medical Center, Nijmegen, The Netherlands.; Neveling K; Department of Human Genetics, Radboud University Medical Center, Nijmegen, The Netherlands.; Venselaar H; Centre for Molecular and Biomolecular Informatics, Radboud Institute for Molecular Life Sciences, Radboud University Medical Center, Nijmegen, The Netherlands.; Ramos MG; Department of Human Genetics, Radboud University Medical Center, Nijmegen, The Netherlands.; Gilissen C; Department of Human Genetics, Radboud University Medical Center, Nijmegen, The Netherlands.; Radboud Institute of Molecular Life Sciences, Radboud University Medical Center, Nijmegen, The Netherlands.; Astuti GDN; Department of Human Genetics, Radboud University Medical Center, Nijmegen, The Netherlands.; Division of Human Genetics, Center for Biomedical Research (CEBIOR), Faculty of Medicine, Diponegoro University, Semarang, Indonesia.; Galbany JC; Department of Human Genetics, Radboud University Medical Center, Nijmegen, The Netherlands.; van Lith-Verhoeven JJC; Department of Ophthalmology, Elisabeth-TweeSteden Hospital, Tilburg, The Netherlands.; Ockeloen CW; Department of Human Genetics, Radboud University Medical Center, Nijmegen, The Netherlands.; Haer-Wigman L; Department of Human Genetics, Radboud University Medical Center, Nijmegen, The Netherlands.; Donders Institute for Brain Cognition and Behaviour, Radboud University Medical Center, Nijmegen, The Netherlands.; Hoyng CB; Donders Institute for Brain Cognition and Behaviour, Radboud University Medical Center, Nijmegen, The Netherlands.; Department of Ophthalmology, Radboud University Medical Center, Nijmegen, The Netherlands.; Cremers FPM; Department of Human Genetics, Radboud University Medical Center, Nijmegen, The Netherlands.; Donders Institute for Brain Cognition and Behaviour, Radboud University Medical Center, Nijmegen, The Netherlands.; Kremer H; Department of Human Genetics, Radboud University Medical Center, Nijmegen, The Netherlands.; Donders Institute for Brain Cognition and Behaviour, Radboud University Medical Center, Nijmegen, The Netherlands.; Department of Otorhinolaryngology, Radboud University Medical Center, Nijmegen, The Netherlands.; Roosing S; Department of Human Genetics, Radboud University Medical Center, Nijmegen, The Netherlands. Susanne.Roosing@radboudumc.nl.; Donders Institute for Brain Cognition and Behaviour, Radboud University Medical Center, Nijmegen, The Netherlands. Susanne.Roosing@radboudumc.nl.; van Wijk E; Donders Institute for Brain Cognition and Behaviour, Radboud University Medical Center, Nijmegen, The Netherlands. Erwin.vanWyk@radboudumc.nl.; Department of Otorhinolaryngology, Radboud University Medical Center, Nijmegen, The Netherlands. Erwin.vanWyk@radboudumc.nl.

Publisher: Springer Nature in partnership with the Center of Excellence in Genomic Medicine Research at King Abdulaziz University Country of Publication: England NLM ID: 101685193 Publication Model: Electronic Cited Medium: Internet ISSN: 2056-7944 (Electronic) Linking ISSN: 20567944 NLM ISO Abbreviation: NPJ Genom Med Subsets: PubMed not MEDLINE

Rots D; Department of Human Genetics, Radboud University Medical Center, Nijmegen, the Netherlands; Department of Clinical Genetics, Erasmus MC, Rotterdam, the Netherlands; Genetics Laboratory, Children's Clinical University Hospital, Riga, Latvia.; Choufani S; Genetics and Genome Biology Program, Research Institute, the Hospital for Sick Children, Toronto, ON M5G 1X8, Canada.; Faundes V; Laboratorio de Genética y Enfermedades Metabólicas, Instituto de Nutrición y Tecnología de Los Alimentos (INTA), Universidad de Chile, Santiago, Chile; Manchester Centre for Genomic Medicine, Division of Evolution and Genomic Sciences, School of Biological Sciences, Faculty of Biology, Medicine and Health, University of Manchester, Manchester, UK.; Dingemans AJM; Department of Human Genetics, Radboud University Medical Center, Nijmegen, the Netherlands.; Joss S; West of Scotland Centre for Genomic Medicine, Queen Elizabeth University Hospital, Glasgow, UK.; Foulds N; Wessex Clinical Genetics Services, University Hospital Southampton NHS Foundation Trust, Southampton SO16 5YA, UK.; Jones EA; Manchester Centre for Genomic Medicine, St Mary's Hospital, Manchester University NHS Foundation Trust, Health Innovation Manchester, Manchester, UK; Division of Evolution, Infection and Genomics, School of Biological Sciences, Faculty of Biology, Medicine and Health, University of Manchester, Manchester, UK.; Stewart S; Manchester Centre for Genomic Medicine, St Mary's Hospital, Manchester University NHS Foundation Trust, Health Innovation Manchester, Manchester, UK.; Vasudevan P; Department of Clinical Genetics, University Hospitals of Leicester, Leicester Royal Infirmary, Leicester LE1 7RH, UK.; Dabir T; Northern Ireland Regional Genetics Centre, Belfast City Hospital, Belfast, UK.; Park SM; Department of Clinical Genetics, Cambridge University Hospitals NHS Foundation Trust, Cambridge, UK.; Jewell R; Yorkshire Regional Genetics Service, Chapel Allerton Hospital, Leeds Teaching Hospitals NHS Trust, Leeds, UK.; Brown N; Victorian Clinical Genetics Service, Murdoch Children's Research Institute, Melbourne, VIC, Australia; Department of Paediatrics, Royal Children's Hospital, The University of Melbourne, Melbourne, VIC, Australia.; Pais L; Center for Mendelian Genomics, Broad Institute of MIT and Harvard, Cambridge, MA, USA; Division of Genetics and Genomics, Boston Children's Hospital, Harvard Medical School, Boston, MA, USA.; Jacquemont S; Department of Pediatrics, University of Montreal, Montreal, QC, Canada.; Jizi K; Service de Génétique Médicale, CHU Ste-Justine, Montréal, QC, Canada.; Ravenswaaij-Arts CMAV; University of Groningen, University Medical Centre Groningen, Department Genetics, Groningen, the Netherlands.; Kroes HY; Division Laboratories, Pharmacy and Biomedical Genetics, University Medical Center Utrecht, Utrecht, the Netherlands.; Stumpel CTRM; Department of Clinical Genetics, Maastricht University Medical Center, Maastricht, the Netherlands; GROW-School for Oncology and Reproduction, Maastricht, the Netherlands.; Ockeloen CW; Department of Human Genetics, Radboud University Medical Center, Nijmegen, the Netherlands.; Diets IJ; Department of Human Genetics, Radboud University Medical Center, Nijmegen, the Netherlands.; Nizon M; Service de Génétique Médicale, Centre Hospitalier Universitaire de Nantes, Nantes, France.; Vincent M; Service de Génétique Médicale, Centre Hospitalier Universitaire de Nantes, Nantes, France.; Cogné B; Service de Génétique Médicale, Centre Hospitalier Universitaire de Nantes, Nantes, France.; Besnard T; Service de Génétique Médicale, Centre Hospitalier Universitaire de Nantes, Nantes, France.; Kambouris M; Division of Genetics, Department of Pathology and Laboratory Medicine Department, Sidra Medicine, Doha, Qatar.; Anderson E; Liverpool Centre for Genomic Medicine, Liverpool Women's NHS Foundation Trust, Liverpool, UK.; Zackai EH; Division of Human Genetics, Children's Hospital of Philadelphia, Philadelphia, PA, USA.; McDougall C; Division of Human Genetics, Department of Pediatrics, The Children's Hospital of Philadelphia, Philadelphia, PA, USA.; Donoghue S; Division of Human Genetics, Department of Pediatrics, The Children's Hospital of Philadelphia, Philadelphia, PA, USA.; O'Donnell-Luria A; Center for Mendelian Genomics, Broad Institute of MIT and Harvard, Cambridge, MA, USA; Division of Genetics and Genomics, Boston Children's Hospital, Harvard Medical School, Boston, MA, USA.; Valivullah Z; Center for Mendelian Genomics, Broad Institute of MIT and Harvard, Cambridge, MA, USA.; O'Leary M; Center for Mendelian Genomics, Broad Institute of MIT and Harvard, Cambridge, MA, USA; Broad Institute of Massachusetts Institute of Technology and Harvard, Cambridge, MA, USA.; Srivastava S; Department of Neurology, Boston Children's Hospital, Boston, MA, USA.; Byers H; Department of Pediatrics, Stanford University, Stanford, CA, USA.; Leslie N; Division of Human Genetics, Cincinnati Children's Hospital Medical Center, Cincinnati, OH, USA.; Mazzola S; Center for Personalized Genetic Healthcare, Cleveland Clinic, Cleveland, OH, USA.; Tiller GE; Department of Genetics, Kaiser Permanente, Los Angeles, CA, USA.; Vera M; Department of Genetics, Kaiser Permanente, Los Angeles, CA, USA.; Shen JJ; Division of Genetics, Department of Pediatrics, UCSF Fresno, Fresno, CA, USA; Division of Genomic Medicine, Department of Pediatrics, University of California Davis, Sacramento, CA, USA.; Boles R; NeuraBilities Healthcare, Philadelphia, PA, USA.; Jain V; All Wales Medical Genomics Service, Wales Genomic Health Centre, Cardiff Edge Business Park, Longwood Drive, Whitchurch, Cardiff CF14 7YU, UK.; Brischoux-Boucher E; Centre de Génétique Humaine, CHU de Besançon, Université de Franche-Comté, Besançon, France.; Kinning E; Clinical Genetics, Birmingham Women's and Children's, Birmingham, UK.; Simpson BN; Division of Human Genetics, Cincinnati Children's Hospital Medical Center, Department of Pediatrics, University of Cincinnati, Cincinnati, OH, USA.; Giltay JC; Division Laboratories, Pharmacy and Biomedical Genetics, University Medical Center Utrecht, Utrecht, the Netherlands.; Harris J; Kennedy Krieger Institute, Baltimore, MD, USA; Department of Genetic Medicine, Johns Hopkins University School of Medicine, Baltimore, MD, USA.; Keren B; Department of Genetics, APHP Sorbonne University, Paris, France.; Guimier A; Service de Médecine Genomique des Maladies Rares, CRMR Anomalies Du Développement, Hôpital Necker-Enfants Malades, Assistance Publique des Hôpitaux de Paris, Paris, France.; Marijon P; Laboratoire de Biologie Médicale Multisites Seqoia FMG2025, 75014 Paris, France.; Vries BBA; Department of Human Genetics, Radboud University Medical Center, Nijmegen, the Netherlands.; Motter CS; Genetic Center, Akron Children's Hospital, Akron, OH, USA.; Mendelsohn BA; Department of Medical Genetics, Kaiser Permanente, Oakland, CA, USA.; Coffino S; Department of Pediatric Neurology, Kaiser Permanente, Oakland, CA, USA.; Gerkes EH; Department of Genetics, University of Groningen, University Medical Center Groningen, Groningen, the Netherlands.; Afenjar A; APHP Sorbonne Université, Centre de Référence Malformations et Maladies Congénitales Du Cervelet et Déficiences Intellectuelles de Causes Rares, Département de Génétique et Embryologie Médicale, Hôpital Trousseau, Paris, France.; Visconti P; IRCCS Istituto Delle Scienze Neurologiche di Bologna, UOSI Disturbi Dello Spettro Autistico, Bologna, Italy.; Bacchelli E; Pharmacy and Biotechnology Department, University of Bologna, Bologna, Italy.; Maestrini E; Pharmacy and Biotechnology Department, University of Bologna, Bologna, Italy.; Delahaye-Duriez A; Medical Genomics and Clinical Genetics Unit, AP-HP, Hôpital Jean Verdier, Bondy, France.; Gooch C; Division of Genetics and Genomic Medicine, Department of Pediatrics, Washington University School of Medicine, St Louis, MO, USA.; Hendriks Y; Department of Clinical Genetics, Leiden University Medical Center, Leiden, the Netherlands.; Adams H; Department of Human Genetics, Radboud University Medical Center, Nijmegen, the Netherlands; Department of Clinical Genetics, Erasmus MC, Rotterdam, the Netherlands.; Thauvin-Robinet C; Unité Fonctionnelle Innovation en Diagnostic Génomique des Maladies Rares, Dijon, France; Inserm, UMR1231, Equipe GAD, Bâtiment B3, Université de Bourgogne Franche Comté, Dijon Cedex, France; Centre de Référence Déficiences Intellectuelles de Causes Rares, FHU-TRANSLAD, CHU Dijon Bourgogne, Dijon, France.; Josephi-Taylor S; Department of Clinical Genetics, The Children's Hospital at Westmead, Sydney, NSW, Australia; Discipline of Genomic Medicine, Faculty of Medicine and Health, The University of Sydney, Sydney, NSW, Australia.; Bertoli M; Northern Genetics Service, Newcastle Upon Tyne NHS Foundation Trust, Newcastle Upon Tyne, UK.; Parker MJ; Department of Clinical Genetics, Sheffield Children's Hospital, Sheffield, UK.; Rutten JW; Department of Clinical Genetics, Leiden University Medical Center, Leiden, the Netherlands.; Caluseriu O; Department of Medical Genetics, University of Alberta, Edmonton, Canada.; Vernon HJ; Johns Hopkins University School of Medicine, Baltimore, MD, USA.; Kaziyev J; Division of Genetics and Genomics, Boston Children's Hospital, Harvard Medical School, Boston, MA, USA.; Zhu J; Division of Genetics and Genomics, Boston Children's Hospital, Harvard Medical School, Boston, MA, USA.; Kremen J; Division of Endocrinology, Boston Children's Hospital, Harvard Medical School, Boston, MA, USA.; Frazier Z; Rosamund Stone Zander Translational Neuroscience Center, Boston Children's Hospital, Harvard Medical School, Boston, MA, USA.; Osika H; Rosamund Stone Zander Translational Neuroscience Center, Boston Children's Hospital, Harvard Medical School, Boston, MA, USA.; Breault D; Division of Genetics and Genomics, Boston Children's Hospital, Harvard Medical School, Boston, MA, USA.; Nair S; Department of Fetal Medicine, Lifeline Super Specialty Hospital, Kerala, India.; Lewis SME; Department of Medical Genetics, BC Children's Hospital Research Institute, The University of British Columbia, Vancouver, BC, Canada.; Ceroni F; Pharmacy and Biotechnology Department, University of Bologna, Bologna, Italy; Faculty of Health and Life Sciences, Oxford Brookes University, Oxford, UK.; Viggiano M; Pharmacy and Biotechnology Department, University of Bologna, Bologna, Italy.; Posar A; IRCCS Istituto Delle Scienze Neurologiche di Bologna, UOSI Disturbi Dello Spettro Autistico, Bologna, Italy; Department of Biomedical and Neuromotor Sciences, University of Bologna, Bologna, Italy.; Brittain H; Department of Clinical Genetics, Birmingham Women's & Children's NHS Trust, Birmingham, UK.; Giovanna T; Medical Genetics Unit, Meyer Children's Hospital IRCCS Florence, Florence, Italy.; Giulia G; Medical Genetics Unit,Meyer Children's Hospital IRCCS, Florence, Italy.; Quteineh L; Division of Genetic Medicine, Geneva University Hospitals, 1205 Geneva, Switzerland.; Ha-Vinh Leuchter R; Division of Development and Growth, Department of Pediatrics, University of Geneva, Geneva, Switzerland.; Zonneveld-Huijssoon E; Department of Genetics, University of Groningen, University Medical Center Groningen, Groningen, the Netherlands.; Mellado C; Sección de Genética y Errores Congénitos Del Metabolismo, División de Pediatría, Pontificia Universidad Católica de Chile, Santiago, Chile.; Marey I; CHU Grenoble Alpes, Grenoble, France.; Coudert A; CHU Grenoble Alpes, Grenoble, France.; Aracena Alvarez MI; Unit of Genetics and Metabolic Diseases, Division of Pediatrics, School of Medicine, Pontificia Universidad Católica de Chile, Santiago, Chile.; Kennis MGP; Department of Human Genetics, Radboud University Medical Center, Nijmegen, the Netherlands.; Bouman A; Department of Human Genetics, Radboud University Medical Center, Nijmegen, the Netherlands.; Roifman M; The Prenatal Diagnosis and Medical Genetics Program, Division of Maternal Fetal Medicine, Department of Obstetrics and Gynaecology, University of Toronto, Toronto, Canada.; Amorós Rodríguez MI; Deparment of Pediatrics, Hospital Punta Europa Algeciras, Cadiz, Spain.; Ortigoza-Escobar JD; Movement Disorders Unit, Institut de Recerca Sant Joan de Déu, CIBERER-ISCIII and European Reference Network for Rare Neurological Diseases (ERN-RND), Barcelona, Spain.; Vernimmen V; Department of Clinical Genetics, Maastricht University Medical Center, Maastricht, the Netherlands; GROW-School for Oncology and Reproduction, Maastricht, the Netherlands.; Sinnema M; Department of Clinical Genetics, Maastricht University Medical Center, Maastricht, the Netherlands.; Pfundt R; Department of Human Genetics, Radboud University Medical Center, Nijmegen, the Netherlands.; Brunner HG; Department of Human Genetics, Radboud University Medical Center, Nijmegen, the Netherlands; Department of Clinical Genetics, Maastricht University Medical Center, Maastricht, the Netherlands.; Vissers LELM; Department of Human Genetics, Radboud University Medical Center, Nijmegen, the Netherlands; Research Institute for Medical Innovation, Radboud University Medical Center, Nijmegen, the Netherlands.; Kleefstra T; Department of Human Genetics, Radboud University Medical Center, Nijmegen, the Netherlands; Department of Clinical Genetics, Erasmus MC, Rotterdam, the Netherlands; Center of Excellence for Neuropsychiatry, Vincent van Gogh Institute for Psychiatry, Venray, the Netherlands. Electronic address: t.kleefstra@erasmusmc.nl.; Weksberg R; Genetics and Genome Biology Program, Research Institute, the Hospital for Sick Children, Toronto, ON M5G 1X8, Canada; Division of Clinical and Metabolic Genetics, Department of Pediatrics, the Hospital for Sick Children, University of Toronto, Toronto, ON M5G 1X8, Canada. Electronic address: rweksb@sickkids.ca.; Banka S; Manchester Centre for Genomic Medicine, St Mary's Hospital, Manchester University NHS Foundation Trust, Health Innovation Manchester, Manchester, UK; Manchester Centre for Genomic Medicine, Division of Evolution and Genomic Sciences, School of Biological Sciences, Faculty of Biology, Medicine and Health, University of Manchester, Manchester, UK.

Publisher: Cell Press Country of Publication: United States NLM ID: 0370475 Publication Model: Print-Electronic Cited Medium: Internet ISSN: 1537-6605 (Electronic) Linking ISSN: 00029297 NLM ISO Abbreviation: Am J Hum Genet Subsets: MEDLINE

Rots D; Department of Clinical Genetics, Erasmus MC, Rotterdam, the Netherlands; Department of Human Genetics, Radboud University Medical Center, Nijmegen, the Netherlands; Genetics Laboratory, Children's Clinical University Hospital, Riga, Latvia.; Bouman A; Department of Human Genetics, Radboud University Medical Center, Nijmegen, the Netherlands; Donders Institute for Brain, Cognition and Behaviour, Radboud University Medical Center, Nijmegen, The Netherlands.; Yamada A; Cellular Memory Laboratory, RIKEN Cluster for Pioneering Research, RIKEN, Wako, Saitama, Japan.; Levy M; Verspeeten Clinical Genome Centre, London Health Sciences Centre, London, ON, Canada.; Dingemans AJM; Department of Human Genetics, Radboud University Medical Center, Nijmegen, the Netherlands.; de Vries BBA; Department of Human Genetics, Radboud University Medical Center, Nijmegen, the Netherlands.; Ruiterkamp-Versteeg M; Department of Human Genetics, Radboud University Medical Center, Nijmegen, the Netherlands.; de Leeuw N; Department of Human Genetics, Radboud University Medical Center, Nijmegen, the Netherlands.; Ockeloen CW; Department of Human Genetics, Radboud University Medical Center, Nijmegen, the Netherlands.; Pfundt R; Department of Human Genetics, Radboud University Medical Center, Nijmegen, the Netherlands.; de Boer E; Department of Human Genetics, Radboud University Medical Center, Nijmegen, the Netherlands.; Kummeling J; Department of Human Genetics, Radboud University Medical Center, Nijmegen, the Netherlands.; van Bon B; Department of Human Genetics, Radboud University Medical Center, Nijmegen, the Netherlands.; van Bokhoven H; Department of Human Genetics, Radboud University Medical Center, Nijmegen, the Netherlands.; Kasri NN; Department of Human Genetics, Radboud University Medical Center, Nijmegen, the Netherlands.; Venselaar H; Department of Medical BioSciences, Radboudumc, Nijmegen, the Netherlands.; Alders M; Department of Human Genetics, Amsterdam UMC location University of Amsterdam, Amsterdam, the Netherlands; Amsterdam Reproduction and Development research institute, Amsterdam, the Netherlands.; Kerkhof J; Verspeeten Clinical Genome Centre, London Health Sciences Centre, London, ON, Canada.; McConkey H; Verspeeten Clinical Genome Centre, London Health Sciences Centre, London, ON, Canada; Department of Pathology and Laboratory Medicine, Western University, London, ON, Canada.; Kuechler A; Institute of Human Genetics, University Hospital Essen, Essen, Germany.; Elffers B; Cordaan, Amsterdam, the Netherlands; Department of Medical Care for Patients with Intellectual Disability, AMSTA, Amsterdam, the Netherlands.; van Beeck Calkoen R; Cordaan, Amsterdam, the Netherlands.; Hofman S; Evean Oostergouw, Zaandam, the Netherlands.; Smith A; Manchester Centre for Genomic Medicine, St Mary's Hospital, Manchester University NHS Foundation Trust, Health Innovation Manchester, Manchester, UK.; Valenzuela MI; Department of Clinical and Molecular Genetics and Rare Disease Unit Hospital Vall d'Hebron, Barcelona, Spain; Medicine Genetics Group, Vall Hebron Research Institute, Barcelona, Spain.; Srivastava S; Department of Neurology, Boston Children's Hospital, Boston, MA, USA.; Frazier Z; Rosamund Stone Zander Translational Neuroscience Center, Boston Children's Hospital, Harvard Medical School, Boston, MA, USA.; Maystadt I; Institut de Pathologie et de Génétique Centre de Génétique Humaineavenue G. Lemaître, 256041 Gosselies, Belgium.; Piscopo C; Medical and Laboratory Unit, Antonio cardarelli Hospital, via A.Cardarelli 9, 80131 Naples, Italy.; Merla G; Department of Molecular Medicine and Medical Biotechnology, University of Naples, Naples, Italy; Laboratory of Regulatory and Functional Genomics, fondazione IRCCS casa sollievo della sofferenza, san giovanni rotondo, Foggia, Italy.; Balasubramanian M; Division of Clinical Medicine, University of Sheffield, Sheffield, UK; Sheffield Clinical Genetics Service, Sheffield Children's NHS Foundation Trust, Sheffield, United Kingdom.; Santen GWE; Department of Clinical Genetics, Leiden University Medical Center, Leiden, the Netherlands.; Metcalfe K; Manchester Centre for Genomic Medicine, St Mary's Hospital, Manchester University NHS Foundation Trust, Health Innovation Manchester, Manchester, UK.; Park SM; Department of Clinical Genetics, Cambridge University Hospitals NHS Foundation Trust, Cambridge, UK.; Pasquier L; Reference Center for Rare Diseases, Hôpital Sud - CHU Rennes, Rennes, France.; Banka S; Manchester Centre for Genomic Medicine, St Mary's Hospital, Manchester University NHS Foundation Trust, Health Innovation Manchester, Manchester, UK; Division of Evolution and Genomic Sciences, School of Biological Sciences, Faculty of Biology, Medicine and Health, University of Manchester, Manchester, UK.; Donnai D; Manchester Centre for Genomic Medicine, St Mary's Hospital, Manchester University NHS Foundation Trust, Health Innovation Manchester, Manchester, UK.; Weisberg D; Manchester Centre for Genomic Medicine, St Mary's Hospital, Manchester University NHS Foundation Trust, Health Innovation Manchester, Manchester, UK.; Strobl-Wildemann G; MVZ Humangenetik Ulm, Ulm, Germany.; Wagemans A; Maasveld, Koraal, Maastricht, the Netherlands; Department of Family Medicine, Faculty of Health, Medicine and Life Science, Maastricht University, Maastricht, the Netherlands.; Vreeburg M; Department of Clinical Genetics, Maastricht University Medical Center, Maastricht, the Netherlands.; Baralle D; Human Development and Health, Faculty of Medicine, University Hospital Southampton, Southampton, Hampshire, UK.; Foulds N; Wessex Regional Genetics Services, UHS NHS Foundation Trust, Southampton, United Kingdom.; Scurr I; Department of Clinical Genetics, University Hospitals Bristol and Weston NHS Foundation Trust, Bristol, UK.; Brunetti-Pierri N; Department of Translational Medicine, Federico II University of Naples, Naples, Italy; Telethon Institute of Genetics and Medicine, Pozzuoli, Italy; Scuola Superiore Meridionale (SSM, School of Advanced Studies), Genomics and Experimental Medicine Program, University of Naples Federico II, Naples, Italy.; van Hagen JM; Amsterdam UMC Location Vrije Universiteit Amsterdam, Department of Human Genetics, Amsterdam, the Netherlands.; Bijlsma EK; Department of Clinical Genetica, Leiden University Medical Center, Leiden, the Netherlands.; Hakonen AH; Department of Clinical Genetics, HUSLAB, HUS Diagnostic Center, University of Helsinki and Helsinki University Hospital, Helsinki, Finland.; Courage C; Department of Clinical Genetics, HUSLAB, HUS Diagnostic Center, University of Helsinki and Helsinki University Hospital, Helsinki, Finland.; Genevieve D; Université Montpellier, Unité INSERM U1183, Montpellier, France; Centre de reference Anomalies du développement, ERN ITHACA, Service de génétique Clinique, CHU Montpellier, Montpellier, France.; Pinson L; Centre de reference Anomalies du développement, ERN ITHACA, Service de génétique Clinique, CHU Montpellier, Montpellier, France.; Forzano F; Clinical Genetics Department 7th Floor Borough WingGuy's Hospital, Guy's & St Thomas' NHS Foundation TrustGreat Maze Pond, London, UK.; Deshpande C; Manchester Centre for Genomic Medicine, St Mary's Hospital, Manchester University NHS Foundation Trust, Health Innovation Manchester, Manchester, UK.; Kluskens ML; Prinsenstichting, Purmerend, the Netherlands.; Welling L; Prinsenstichting, Purmerend, the Netherlands.; Plomp AS; Department of Human Genetics, Amsterdam UMC location University of Amsterdam, Amsterdam, the Netherlands; Amsterdam Reproduction and Development research institute, Amsterdam, the Netherlands.; Vanhoutte EK; Department of Clinical Genetics, Maastricht University Medical Center, Maastricht, the Netherlands.; Kalsner L; Department of Pediatrics, Division of Neurology, Connecticut Children's, University of Connecticut, Farmington, CT, USA.; Hol JA; Clinical Genetics Department, Erasmus Medical Centre, Rotterdam, the Netherlands.; Putoux A; Hospices Civils de Lyon, Service de Génétique - Centre de Référence Anomalies du Développement, Bron, France; Centre de Recherche en Neurosciences de Lyon, Équipe GENDEV, INSERM U1028 CNRS UMR5292, Université Claude Bernard Lyon 1, Lyon, France.; Lazier J; Regional Genetics Program, Children's Hospital of Eastern Ontario, Ottawa, ON, Canada.; Vasudevan P; Department of Clinical Genetics, University Hospitals of Leicester NHS Trust, Leicester, UK.; Ames E; Division of Pediatric Genetics, Metabolism, and Genomic Medicine, C.S. Mott Children's Hospital, Michigan Medicine, Ann Arbor, MI, USA.; O'Shea J; Division of Pediatric Genetics, Metabolism, and Genomic Medicine, C.S. Mott Children's Hospital, Michigan Medicine, Ann Arbor, MI, USA.; Lederer D; Centre de Génétique Humaine, Institut de Pathologie et de Génétique, Gosselies, Belgium.; Fleischer J; Southern Illinois University School of Medicine, Department of Pediatrics, Springfield, IL, USA.; O'Connor M; Southern Illinois University School of Medicine, Department of Pediatrics, Springfield, IL, USA.; Pauly M; Institute of Human Genetics, Universitätsklinikum Erlangen, Friedrich-Alexander-Universität Erlangen-Nürnberg, Erlangen, Germany.; Vasileiou G; Institute of Human Genetics, Universitätsklinikum Erlangen, Friedrich-Alexander-Universität Erlangen-Nürnberg, Erlangen, Germany; Centre for Rare Diseases Erlangen (ZSEER), Erlangen, Germany.; Reis A; Institute of Human Genetics, Universitätsklinikum Erlangen, Friedrich-Alexander-Universität Erlangen-Nürnberg, Erlangen, Germany; Centre for Rare Diseases Erlangen (ZSEER), Erlangen, Germany.; Kiraly-Borri C; Genetic Health Western Australia, Department of Health King Edward Memorial Hospital, Subiaco, WA 6008, Australia.; Bouman A; Department of Clinical Genetics, Erasmus MC, Rotterdam, the Netherlands.; Barnett C; Paediatric and Reproductive Genetics Unit 8th Floor, Clarence Rieger Building Women's and Children's Hospital, 72 King William Road North, Adelaide, SA 5006, Australia.; Nezarati M; Genetics, North York General Hospital, Toronto, ON, Canada; University of Toronto, Toronto, ON, Canada.; Borch L; Department of Medical Genetics, North York General Hospital, University of Toronto, Toronto, ON, Canada.; Beunders G; Department of Genetics, University Medical Center Groningen, Groningen, the Netherlands.; Özcan K; Neurodevelopmental Treatment Association Çocuk Fizyoterapistleri Derneği Bobath Terapistleri Derneği, Ankara, Turkey.; Miot S; Geriatrics department, Montpellier University Hospital, MUSE University, Montpellier, France; INSERM U1298, INM, Montpellier, France.; Volker-Touw CML; Department of Genetics, University Medical Center Utrecht, Utrecht, the Netherlands.; van Gassen KLI; Department of Genetics, University Medical Center Utrecht, Utrecht, the Netherlands.; Cappuccio G; Department of Translational Medicine, Section of Pediatrics, Federico II University, Via Pansini 5, Naples, Italy; TIGEM (Telethon Institute of Genetics and Medicine), Via Campi Flegrei 34, 80078 Pozzuoli (NA), Italy.; Janssens K; Department of Medical Genetics, Antwerp University Hospital/University of Antwerp, Edegem, Wilrijk, Belgium.; Mor N; Sheba Cancer Research Center, Chaim Sheba Medical Center, Ramat Gan, Israel.; Shomer I; Sheba Cancer Research Center, Chaim Sheba Medical Center, Ramat Gan, Israel.; Dominissini D; Sheba Cancer Research Center, Chaim Sheba Medical Center, Ramat Gan, Israel; Sackler Faculty of Medicine, Tel-Aviv University, Ramat Aviv, Israel.; Tedder ML; Greenwood Genetic Center, Greenwood, SC, USA.; Muir AM; GeneDx Inc., Gaithersburg, MD 20877, USA.; Sadikovic B; Verspeeten Clinical Genome Centre, London Health Sciences Centre, London, ON, Canada.; Brunner HG; Department of Human Genetics, Radboud University Medical Center, Nijmegen, the Netherlands; Department of Clinical Genetics, Maastricht University Medical Center, Maastricht, the Netherlands.; Vissers LELM; Department of Human Genetics, Radboud University Medical Center, Nijmegen, the Netherlands; Research Institute for Medical Innovation, Radboud University Medical Center, Nijmegen, the Netherlands.; Shinkai Y; Cellular Memory Laboratory, RIKEN Cluster for Pioneering Research, RIKEN, Wako, Saitama, Japan. Electronic address: yshinkai@riken.jp.; Kleefstra T; Department of Clinical Genetics, Erasmus MC, Rotterdam, the Netherlands; Department of Human Genetics, Radboud University Medical Center, Nijmegen, the Netherlands; Center of Excellence for Neuropsychiatry, Vincent van Gogh Institute for Psychiatry, Venray, the Netherlands. Electronic address: t.kleefstra@erasmusmc.nl.

Publisher: Cell Press Country of Publication: United States NLM ID: 0370475 Publication Model: Print-Electronic Cited Medium: Internet ISSN: 1537-6605 (Electronic) Linking ISSN: 00029297 NLM ISO Abbreviation: Am J Hum Genet Subsets: MEDLINE