부산대학교 도서관

Low KJ; Centre for Academic Child Health, Bristol Medical School, University of Bristol, Bristol, UK.; Department of Clinical Genetics, UHBW NHS trust, Bristol, UK.; Treneman-Evans G; Centre for Academic Child Health, Bristol Medical School, University of Bristol, Bristol, UK.; Wynn SL; Unique, Rare Chromosome Disorder Support Group, Oxted, UK.; Ingram J; Centre for Academic Child Health, Bristol Medical School, University of Bristol, Bristol, UK.

Publisher: Wiley Country of Publication: England NLM ID: 9815926 Publication Model: Print Cited Medium: Internet ISSN: 1369-7625 (Electronic) Linking ISSN: 13696513 NLM ISO Abbreviation: Health Expect 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

Cheung MS; Great Ormond Street Hospital NHS Foundation Trust, Department of Paediatric Endocrinology, London, UK.; UCL Great Ormond Street Institute of Child Health, London, UK.; Lanzafame R; Great Ormond Street Hospital NHS Foundation Trust, Department of Paediatric Endocrinology, London, UK.; Low KJ; Department of Clinical Genetics, University Hospitals Bristol and Weston NHS Foundation Trust, Bristol, UK.; Centre for Academic Child Health, Bristol Medical School, University of Bristol, Bristol, UK.; 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

Mandal AS; Perelman School of Medicine, University of Pennsylvania, Philadelphia.; Department of Child and Adolescent Psychiatry and Behavioral Science, The Children's Hospital of Philadelphia, PA.; Lifespan Brain Institute, Children's Hospital of Philadelphia and Penn Medicine, PA.; Shinohara RT; Penn Statistics in Imaging and Visualization Center, Department of Biostatistics, Epidemiology, and Informatics, University of Pennsylvania, Philadelphia.; Jung B; Department of Child and Adolescent Psychiatry and Behavioral Science, The Children's Hospital of Philadelphia, PA.; Lifespan Brain Institute, Children's Hospital of Philadelphia and Penn Medicine, PA.; Gardner M; Department of Child and Adolescent Psychiatry and Behavioral Science, The Children's Hospital of Philadelphia, PA.; Lifespan Brain Institute, Children's Hospital of Philadelphia and Penn Medicine, PA.; Akouri HE; Perelman School of Medicine, University of Pennsylvania, Philadelphia.; Yerys BE; Department of Child and Adolescent Psychiatry and Behavioral Science, The Children's Hospital of Philadelphia, PA.; Center for Autism Research, The Children's Hospital of Philadelphia and Penn Medicine, PA.; Advancing Transition and Learning for Adult Success Center, The Children's Hospital of Philadelphia and Penn Medicine, PA.; Low KJ; Centre for Academic Child Health, Bristol Medical School, University of Bristol, United Kingdom.; Department of Clinical Genetics, UHBW NHS Trust, Bristol, United Kingdom.; Cole TJ; UCL Great Ormond Street Institute of Child Health, London, United Kingdom.; Guthrie W; Department of Child and Adolescent Psychiatry and Behavioral Science, The Children's Hospital of Philadelphia, PA.; Center for Autism Research, The Children's Hospital of Philadelphia and Penn Medicine, PA.; Janke KM; Department of Child and Adolescent Psychiatry and Behavioral Science, The Children's Hospital of Philadelphia, PA.; Herrington JD; Department of Child and Adolescent Psychiatry and Behavioral Science, The Children's Hospital of Philadelphia, PA.; Center for Autism Research, The Children's Hospital of Philadelphia and Penn Medicine, PA.; Hocking MC; Perelman School of Medicine, University of Pennsylvania, Philadelphia.; Department of Child and Adolescent Psychiatry and Behavioral Science, The Children's Hospital of Philadelphia, PA.; Ball G; Murdoch Children's Research Institute, Melbourne, Victoria, Australia.; Department of Paediatrics, University of Melbourne, Victoria, Australia.; Payne JM; Murdoch Children's Research Institute, Melbourne, Victoria, Australia.; Department of Paediatrics, University of Melbourne, Victoria, Australia.; North KN; Murdoch Children's Research Institute, Melbourne, Victoria, Australia.; Department of Paediatrics, University of Melbourne, Victoria, Australia.; Muhlert N; Division of Psychology, Communication & Human Neurosciences, Faculty of Biology, Medicine and Health, University of Manchester, United Kingdom.; Garg S; Division of Psychology and Mental Health, Faculty of Biology, Medicine and Health, University of Manchester and Manchester University Foundation NHS Trust, United Kingdom.; Seidlitz J; Department of Child and Adolescent Psychiatry and Behavioral Science, The Children's Hospital of Philadelphia, PA.; Lifespan Brain Institute, Children's Hospital of Philadelphia and Penn Medicine, PA.; Department of Psychiatry, University of Pennsylvania, Philadelphia; and.; Fisher MJ; Perelman School of Medicine, University of Pennsylvania, Philadelphia.; Division of Oncology, Children's Hospital of Philadelphia, PA.; Alexander-Bloch AF; Department of Child and Adolescent Psychiatry and Behavioral Science, The Children's Hospital of Philadelphia, PA.; Lifespan Brain Institute, Children's Hospital of Philadelphia and Penn Medicine, PA.; Department of Psychiatry, University of Pennsylvania, Philadelphia; and.

Publisher: Lippincott Williams & Wilkins Country of Publication: United States NLM ID: 0401060 Publication Model: Print-Electronic Cited Medium: Internet ISSN: 1526-632X (Electronic) Linking ISSN: 00283878 NLM ISO Abbreviation: Neurology Subsets: MEDLINE

Jung B; Department of Child and Adolescent Psychiatry and Behavioral Sciences, Children's Hospital of Philadelphia, Philadelphia, Pennsylvania.; Neurodevelopment & Psychosis Section, Department of Psychiatry, Perelman School of Medicine, University of Pennsylvania, Philadelphia, Pennsylvania.; Lifespan Brain Institute, Children's Hospital of Philadelphia and Penn Medicine, Philadelphia, Pennsylvania.; Schmitt JE; Neurodevelopment & Psychosis Section, Department of Psychiatry, Perelman School of Medicine, University of Pennsylvania, Philadelphia, Pennsylvania.; Department of Radiology, Perelman School of Medicine, University of Pennsylvania, Philadelphia, Pennsylvania.; Seidlitz J; Department of Child and Adolescent Psychiatry and Behavioral Sciences, Children's Hospital of Philadelphia, Philadelphia, Pennsylvania.; Neurodevelopment & Psychosis Section, Department of Psychiatry, Perelman School of Medicine, University of Pennsylvania, Philadelphia, Pennsylvania.; Lifespan Brain Institute, Children's Hospital of Philadelphia and Penn Medicine, Philadelphia, Pennsylvania.; Schabdach JM; Department of Child and Adolescent Psychiatry and Behavioral Sciences, Children's Hospital of Philadelphia, Philadelphia, Pennsylvania.; Neurodevelopment & Psychosis Section, Department of Psychiatry, Perelman School of Medicine, University of Pennsylvania, Philadelphia, Pennsylvania.; Lifespan Brain Institute, Children's Hospital of Philadelphia and Penn Medicine, Philadelphia, Pennsylvania.; Karandikar S; Department of Child and Adolescent Psychiatry and Behavioral Sciences, Children's Hospital of Philadelphia, Philadelphia, Pennsylvania.; Neurodevelopment & Psychosis Section, Department of Psychiatry, Perelman School of Medicine, University of Pennsylvania, Philadelphia, Pennsylvania.; Lifespan Brain Institute, Children's Hospital of Philadelphia and Penn Medicine, Philadelphia, Pennsylvania.; Crowley TB; 22q and You Center, Children's Hospital of Philadelphia, Philadelphia, Pennsylvania.; Dorfschmidt L; Department of Child and Adolescent Psychiatry and Behavioral Sciences, Children's Hospital of Philadelphia, Philadelphia, Pennsylvania.; Neurodevelopment & Psychosis Section, Department of Psychiatry, Perelman School of Medicine, University of Pennsylvania, Philadelphia, Pennsylvania.; Lifespan Brain Institute, Children's Hospital of Philadelphia and Penn Medicine, Philadelphia, Pennsylvania.; Mandal AS; Department of Neurology, Mass General Brigham, Harvard Medical School, Boston, MA, United States.; Center for Neurotechnology and Neurorecovery, Department of Neurology, Massachusetts General Hospital, Boston, MA, United States.; Zimmerman D; Department of Child and Adolescent Psychiatry and Behavioral Sciences, Children's Hospital of Philadelphia, Philadelphia, Pennsylvania.; Neurodevelopment & Psychosis Section, Department of Psychiatry, Perelman School of Medicine, University of Pennsylvania, Philadelphia, Pennsylvania.; Lifespan Brain Institute, Children's Hospital of Philadelphia and Penn Medicine, Philadelphia, Pennsylvania.; Williams RMS; Department of Child and Adolescent Psychiatry and Behavioral Sciences, Children's Hospital of Philadelphia, Philadelphia, Pennsylvania.; Neurodevelopment & Psychosis Section, Department of Psychiatry, Perelman School of Medicine, University of Pennsylvania, Philadelphia, Pennsylvania.; Lifespan Brain Institute, Children's Hospital of Philadelphia and Penn Medicine, Philadelphia, Pennsylvania.; Prem S; Department of Child and Adolescent Psychiatry and Behavioral Sciences, Children's Hospital of Philadelphia, Philadelphia, Pennsylvania.; Neurodevelopment & Psychosis Section, Department of Psychiatry, Perelman School of Medicine, University of Pennsylvania, Philadelphia, Pennsylvania.; Lifespan Brain Institute, Children's Hospital of Philadelphia and Penn Medicine, Philadelphia, Pennsylvania.; Levitis E; Department of Child and Adolescent Psychiatry and Behavioral Sciences, Children's Hospital of Philadelphia, Philadelphia, Pennsylvania.; Neurodevelopment & Psychosis Section, Department of Psychiatry, Perelman School of Medicine, University of Pennsylvania, Philadelphia, Pennsylvania.; Lifespan Brain Institute, Children's Hospital of Philadelphia and Penn Medicine, Philadelphia, Pennsylvania.; Gardner M; Department of Child and Adolescent Psychiatry and Behavioral Sciences, Children's Hospital of Philadelphia, Philadelphia, Pennsylvania.; Neurodevelopment & Psychosis Section, Department of Psychiatry, Perelman School of Medicine, University of Pennsylvania, Philadelphia, Pennsylvania.; Lifespan Brain Institute, Children's Hospital of Philadelphia and Penn Medicine, Philadelphia, Pennsylvania.; Cyr K; Department of Child and Adolescent Psychiatry and Behavioral Sciences, Children's Hospital of Philadelphia, Philadelphia, Pennsylvania.; Neurodevelopment & Psychosis Section, Department of Psychiatry, Perelman School of Medicine, University of Pennsylvania, Philadelphia, Pennsylvania.; Lifespan Brain Institute, Children's Hospital of Philadelphia and Penn Medicine, Philadelphia, Pennsylvania.; Padmanabhan V; Translational Research Informatics Group, Department of Biomedical and Health Informatics | CHOP Research, Children's Hospital of Philadelphia, Philadelphia, Pennsylvania.; Taylor JH; Department of Child and Adolescent Psychiatry and Behavioral Sciences, Children's Hospital of Philadelphia, Philadelphia, Pennsylvania.; Neurodevelopment & Psychosis Section, Department of Psychiatry, Perelman School of Medicine, University of Pennsylvania, Philadelphia, Pennsylvania.; Lifespan Brain Institute, Children's Hospital of Philadelphia and Penn Medicine, Philadelphia, Pennsylvania.; Ruparel K; Neurodevelopment & Psychosis Section, Department of Psychiatry, Perelman School of Medicine, University of Pennsylvania, Philadelphia, Pennsylvania.; Lifespan Brain Institute, Children's Hospital of Philadelphia and Penn Medicine, Philadelphia, Pennsylvania.; Boen R; Department of Psychiatry and Biobehavioral Sciences, Semel Institute for Neuroscience and Human Behavior, University of California, Los Angeles, Los Angeles, California.; Bearden CE; Department of Psychiatry and Biobehavioral Sciences, Semel Institute for Neuroscience and Human Behavior, University of California, Los Angeles, Los Angeles, California.; Department of Psychology, University of California, Los Angeles, Los Angeles, California.; Ching CRK; Imaging Genetics Center, Mark and Mary Stevens Neuroimaging and Informatics Institute, Keck School of Medicine, University of Southern California, Los Angeles, California.; Pasaniuc B; Division of Human Genetics, Children's Hospital of Philadelphia, Philadelphia, Pennsylvania.; Department of Genetics, University of Pennsylvania, Philadelphia, Pennsylvania.; Anderson S; Department of Child and Adolescent Psychiatry and Behavioral Sciences, Children's Hospital of Philadelphia, Philadelphia, Pennsylvania.; Neurodevelopment & Psychosis Section, Department of Psychiatry, Perelman School of Medicine, University of Pennsylvania, Philadelphia, Pennsylvania.; Lifespan Brain Institute, Children's Hospital of Philadelphia and Penn Medicine, Philadelphia, Pennsylvania.; McGinn D; 22q and You Center, Children's Hospital of Philadelphia, Philadelphia, Pennsylvania.; Zackai E; 22q and You Center, Children's Hospital of Philadelphia, Philadelphia, Pennsylvania.; Division of Human Genetics, Children's Hospital of Philadelphia, Philadelphia, Pennsylvania.; Department of Genetics, University of Pennsylvania, Philadelphia, Pennsylvania.; Emanuel B; 22q and You Center, Children's Hospital of Philadelphia, Philadelphia, Pennsylvania.; Division of Human Genetics, Children's Hospital of Philadelphia, Philadelphia, Pennsylvania.; Department of Pediatrics, Perelman School of Medicine, University of Pennsylvania, Philadelphia, Pennsylvania.; Hopkins S; 22q and You Center, Children's Hospital of Philadelphia, Philadelphia, Pennsylvania.; Division of Neurology, Children's Hospital of Philadelphia, Philadelphia, Pennsylvania.; Chadehumbe M; 22q and You Center, Children's Hospital of Philadelphia, Philadelphia, Pennsylvania.; Neurabilities Healthcare, Voorhees, New Jersey.; Low KJ; Centre for Academic Child Health, Bristol Medical School, University of Bristol, Bristol, UK.; Department of Clinical Genetics, UHBW NHS trust, Bristol, UK.; Cole TJ; UCL Great Ormond Street Institute of Child Health, London, UK.; Bethlehem RAI; Department of Psychology, University of Cambridge, Cambridge, UK.; Shinohara RT; Penn Statistics in Imaging and Visualization Center, Department of Biostatistics, Epidemiology, and Informatics, Perelman School of Medicine, University of Pennsylvania, Philadelphia, Pennsylvania.; Center for Artificial Intelligence and Data Science for Integrated Diagnostics (Ai2D), Perelman School of Medicine, University of Pennsylvania, Philadelphia, Pennsylvania.; Gaynor JW; Division of Pediatric Cardiothoracic Surgery, Children's Hospital of Philadelphia, Philadelphia, Pennsylvania.; Department of Surgery, University of Pennsylvania, Philadelphia, Pennsylvania.; Roalf DR; Neurodevelopment & Psychosis Section, Department of Psychiatry, Perelman School of Medicine, University of Pennsylvania, Philadelphia, Pennsylvania.; Lifespan Brain Institute, Children's Hospital of Philadelphia and Penn Medicine, Philadelphia, Pennsylvania.; Gur RE; Department of Child and Adolescent Psychiatry and Behavioral Sciences, Children's Hospital of Philadelphia, Philadelphia, Pennsylvania.; Neurodevelopment & Psychosis Section, Department of Psychiatry, Perelman School of Medicine, University of Pennsylvania, Philadelphia, Pennsylvania.; Lifespan Brain Institute, Children's Hospital of Philadelphia and Penn Medicine, Philadelphia, Pennsylvania.; McDonald-McGinn DM; 22q and You Center, Children's Hospital of Philadelphia, Philadelphia, Pennsylvania.; Division of Human Genetics, Children's Hospital of Philadelphia, Philadelphia, Pennsylvania.; Department of Pediatrics, Perelman School of Medicine, University of Pennsylvania, Philadelphia, Pennsylvania.; Alexander-Bloch A; Department of Child and Adolescent Psychiatry and Behavioral Sciences, Children's Hospital of Philadelphia, Philadelphia, Pennsylvania.; Neurodevelopment & Psychosis Section, Department of Psychiatry, Perelman School of Medicine, University of Pennsylvania, Philadelphia, Pennsylvania.; Lifespan Brain Institute, Children's Hospital of Philadelphia and Penn Medicine, Philadelphia, Pennsylvania.

Country of Publication: United States NLM ID: 101767986 Publication Model: Electronic Cited Medium: Internet NLM ISO Abbreviation: medRxiv Subsets: PubMed not MEDLINE

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

Bowman P; Department of Clinical Genetics, Royal Devon University NHS Foundation Trust, Exeter, UK.; University of Exeter, Exeter, UK.; Grimes H; Somerset NHS Foundation Trust, Taunton, Somerset, UK.; Dallosso AR; South West Genomic Laboratory Hub, North Bristol NHS Trust, Bristol, UK.; Berry I; South West Genomic Laboratory Hub, North Bristol NHS Trust, Bristol, UK.; Mullin S; Department of Neurology, University Hospitals Plymouth NHS Trust, Plymouth, UK.; Rankin J; Department of Clinical Genetics, Royal Devon University NHS Foundation Trust, Exeter, UK.; Low KJ; Department of Clinical Genetics, UHBW NHS Trust, Bristol, UK.; Centre for Academic Child Health, Bristol Medical School, University of Bristol, Bristol, UK.

Publisher: Blackwell Country of Publication: England NLM ID: 0006761 Publication Model: Print-Electronic Cited Medium: Internet ISSN: 1469-8749 (Electronic) Linking ISSN: 00121622 NLM ISO Abbreviation: Dev Med Child Neurol 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

Desprez F; Université de Tours, INSERM, Imaging Brain & Neuropsychiatry iBraiN U1253, Tours, France.; Remize S; Université de Tours, INSERM, Imaging Brain & Neuropsychiatry iBraiN U1253, Tours, France.; Service de Génétique, CHRU de Tours, Tours, France.; François-Moutal L; Department of Pharmacology and Physiology, School of Medicine, St. Louis University, St. Louis, MO, USA.; Ung DC; Université de Tours, INSERM, Imaging Brain & Neuropsychiatry iBraiN U1253, Tours, France.; Dangoumau A; Université de Tours, INSERM, Imaging Brain & Neuropsychiatry iBraiN U1253, Tours, France.; Marouillat S; Université de Tours, INSERM, Imaging Brain & Neuropsychiatry iBraiN U1253, Tours, France.; Kennedy J; Clinical Genetics, University Hospitals Bristol, Southwell St, Bristol, UK.; Low KJ; Clinical Genetics, University Hospitals Bristol, Southwell St, Bristol, UK.; Centre for academic child health, Bristol Medical School, University of Bristol, Bristol, UK.; Kumps C; Division of Genetic Medicine, Lausanne University Hospital (CHUV), Lausanne, Switzerland.; Unger S; Genetica, Lausanne, Switzerland.; Keren B; Département de génétique, AP-HP, Sorbonne Université, Paris, France.; de Sainte Agathe JM; Département de génétique, AP-HP, Sorbonne Université, Paris, France.; Poirsier C; Department of Genetics, Reims University Hospital, Reims, France.; Mirzaa GM; Department of Pediatrics, Division of Genetic Medicine, University of Washington School of Medicine, Seattle, WA, USA.; Department of Laboratory Medicine and Pathology, University of Washington School of Medicine, Seattle, WA, USA.; Brotman Baty Institute for Precision Medicine, Seattle, WA, USA.; Aldinger KA; Department of Pediatrics, Division of Genetic Medicine, University of Washington School of Medicine, Seattle, WA, USA.; Brotman Baty Institute for Precision Medicine, Seattle, WA, USA.; Center for Integrative Brain Research, Seattle Children's Research Institute, Seattle, WA, USA.; Lesca G; Genetics Department, Hospices Civils de Lyon, Lyon, France.; Neuromyogene Institute, CNRS UMR 5261 INSERM U1315, Université Claude Bernard Lyon 1, Lyon, France.; Ruault V; Montpellier University, Reference Center for Rare Disease, Medical Genetic Department for Rare Disease and Personalize Medicine, CHU Montpellier, Montpellier, France.; Finnila CR; HudsonAlpha Institute for Biotechnology, Huntsville, AL, USA.; Kelley WV; HudsonAlpha Institute for Biotechnology, Huntsville, AL, USA.; Latner DR; HudsonAlpha Institute for Biotechnology, Huntsville, AL, USA.; Guptha SN; Permanente Medicine, San Jose, CA, USA.; Tuttle A; GeneDx, LLC, Gaithersburg, MD, USA.; Glass I; Department of Pediatrics, Division of Genetic Medicine, University of Washington School of Medicine, Seattle, WA, USA.; Chung WK; Department of Pediatrics, Division of Genetics and Genomics, Boston Children's Hospital and Department of Pediatrics, Harvard Medical School, Boston, MA, USA.; Hayek JC; Department of Pediatrics, Division of Genetic Medicine, University of Washington School of Medicine, Seattle, WA, USA.; Boute O; Clinique de Génétique, Université de Lille, ULR7364 RADEME, CHU Lille, Lille, France.; Moutal A; Department of Pharmacology and Physiology, School of Medicine, St. Louis University, St. Louis, MO, USA.; Jeanne M; Université de Tours, INSERM, Imaging Brain & Neuropsychiatry iBraiN U1253, Tours, France.; Service de Génétique, CHRU de Tours, Tours, France.; Laumonnier F; Université de Tours, INSERM, Imaging Brain & Neuropsychiatry iBraiN U1253, Tours, France. frederic.laumonnier@inserm.fr.; Service de Génétique, CHRU de Tours, Tours, France. frederic.laumonnier@inserm.fr.

Publisher: Nature Publishing Group Specialist Journals Country of Publication: England NLM ID: 9607835 Publication Model: Print-Electronic Cited Medium: Internet ISSN: 1476-5578 (Electronic) Linking ISSN: 13594184 NLM ISO Abbreviation: Mol Psychiatry Subsets: MEDLINE

Goodkey K; Department of Medical Genetics, Faculty of Medicine & Dentistry, University of Alberta, Edmonton, AB, T6G 2H7, Canada.; Women and Children's Health Research Institute, University of Alberta, 5‑083 Edmonton Clinic Health Academy, Edmonton, AB, T6G 1C9, Canada.; Wischmeijer A; Clinical Genetics Service and Coordination Center for Rare Diseases, Department of Pediatrics, Regional Hospital of Bolzano, Bolzano, Italy.; Perrin L; Clinical Genetics Unit, Hopital Robert-Debre, Paris, France.; Watson AES; Department of Medical Genetics, Faculty of Medicine & Dentistry, University of Alberta, Edmonton, AB, T6G 2H7, Canada.; Women and Children's Health Research Institute, University of Alberta, 5‑083 Edmonton Clinic Health Academy, Edmonton, AB, T6G 1C9, Canada.; Qureshi L; Department of Medical Genetics, Faculty of Medicine & Dentistry, University of Alberta, Edmonton, AB, T6G 2H7, Canada.; Cordelli DM; IRCCS Istituto Delle Scienze Neurologiche Di Bologna, UOC Neuropsichiatria Dell'eta Pediatrica, Bologna, Italy.; Toni F; Programma Di Neuroradiologia Con Tecniche Ad Elevata Complessita (PNTEC), IRCCS Istituto Delle Scienze Neurologiche Di Bologna, Bologna, Italy.; Gnazzo M; Laboratory of Medical Genetics, Translational Cytogenomics Research Unit, Bambino Gesu Children's Hospital, IRCCS, 00165, Rome, Italy.; Benedicenti F; Clinical Genetics Service and Coordination Center for Rare Diseases, Department of Pediatrics, Regional Hospital of Bolzano, Bolzano, Italy.; Elmaleh-Berges M; Service d'Imagerie Pediatrique, Hopital Universitaire Robert Debre, Paris, France.; Low KJ; Department of Academic Child Health, Bristol Medical School, Population Health Sciences, University of Bristol, Bristol, UK.; Clinical Genetics Service, St. Michaels Hospital, Bristol, UK.; Voronova A; Department of Medical Genetics, Faculty of Medicine & Dentistry, University of Alberta, Edmonton, AB, T6G 2H7, Canada. voronova@ualberta.ca.; Women and Children's Health Research Institute, University of Alberta, 5‑083 Edmonton Clinic Health Academy, Edmonton, AB, T6G 1C9, Canada. voronova@ualberta.ca.; Department of Cell Biology, Faculty of Medicine & Dentistry, University of Alberta, Edmonton, AB, T6G 2H7, Canada. voronova@ualberta.ca.; Faculty of Medicine & Dentistry, Neuroscience and Mental Health Institute, Edmonton, AB, T6G 2E1, Canada. voronova@ualberta.ca.

Publisher: BioMed Central Country of Publication: England NLM ID: 101190723 Publication Model: Electronic Cited Medium: Internet ISSN: 1741-7015 (Electronic) Linking ISSN: 17417015 NLM ISO Abbreviation: BMC Med Subsets: MEDLINE; PubMed not MEDLINE

Granozio G; Department of Congenital Heart Disease, Guy's and St Thomas' NHS Foundation Trust, London, United Kingdom.; Velasco Forte MN; Department of Congenital Heart Disease, University Hospital Bristol, Bristol, United Kingdom.; Egloff A; Department of Radiology, Guy's and St Thomas' NHS Foundation Trust, London, United Kingdom.; Woodgate T; School of Biomedical Engineering and Imaging Sciences, King's College London, London, United Kingdom.; Low KJ; Department of Clinical Genetics, University Hospitals Bristol and Weston NHS Trust, Bristol, United Kingdom; Centre for Academic Child Health, Bristol Medical School, University of Bristol, Bristol, United Kingdom.; Kavasoglu AN; Department of Clinical Genetics, University Hospitals Bristol and Weston NHS Trust, Bristol, United Kingdom.; Bellsham-Revell H; Department of Congenital Heart Disease, Guy's and St Thomas' NHS Foundation Trust, London, United Kingdom.; Pushparajah K; Department of Congenital Heart Disease, Guy's and St Thomas' NHS Foundation Trust, London, United Kingdom; School of Biomedical Engineering and Imaging Sciences, King's College London, London, United Kingdom.; Vazquez-Garcia L; Department of Congenital Heart Disease, Guy's and St Thomas' NHS Foundation Trust, London, United Kingdom.; Lloyd DFA; Department of Congenital Heart Disease, Guy's and St Thomas' NHS Foundation Trust, London, United Kingdom; School of Biomedical Engineering and Imaging Sciences, King's College London, London, United Kingdom. Electronic address: David.Lloyd@gstt.nhs.uk.

Publisher: Elsevier Inc Country of Publication: Netherlands NLM ID: 101757292 Publication Model: Print Cited Medium: Internet ISSN: 2666-0849 (Electronic) Linking ISSN: 26660849 NLM ISO Abbreviation: JACC Case Rep Subsets: PubMed not MEDLINE

Goodkey K; Department of Medical Genetics, Faculty of Medicine & Dentistry, University of Alberta, Edmonton, AB, T6G 2H7, Canada.; Women and Children's Health Research Institute, University of Alberta, 5-083 Edmonton Clinic Health Academy, Edmonton, AB, T6G 1C9, Canada.; Wischmeijer A; Clinical Genetics Service and Coordination Center for Rare Diseases, Department of Pediatrics, Regional Hospital of Bolzano, Bolzano, Italy.; Perrin L; Clinical Genetics Unit, Hôpital Robert-Debré, Paris, France.; Watson AES; Department of Medical Genetics, Faculty of Medicine & Dentistry, University of Alberta, Edmonton, AB, T6G 2H7, Canada.; Women and Children's Health Research Institute, University of Alberta, 5-083 Edmonton Clinic Health Academy, Edmonton, AB, T6G 1C9, Canada.; Qureshi L; Department of Medical Genetics, Faculty of Medicine & Dentistry, University of Alberta, Edmonton, AB, T6G 2H7, Canada.; Cordelli DM; IRCCS Istituto Delle Scienze Neurologiche Di Bologna, UOC Neuropsichiatria Dell'età Pediatrica, Bologna, Italy.; Toni F; IRCCS Istituto Delle Scienze Neurologiche Di Bologna, Programma Di Neuroradiologia Con Tecniche Ad Elevata Complessità (PNTEC), Bologna, Italy.; Gnazzo M; Laboratory of Medical Genetics, Translational Cytogenomics Research Unit, Bambino Gesù Children's Hospital, IRCCS, 00165, Rome, Italy.; Benedicenti F; Clinical Genetics Service and Coordination Center for Rare Diseases, Department of Pediatrics, Regional Hospital of Bolzano, Bolzano, Italy.; Elmaleh-Bergès M; Service d'Imagerie Pédiatrique, Hôpital Universitaire Robert Debré, Paris, France.; Low KJ; Department of Academic Child Health, Bristol Medical School, Population Health Sciences, University of Bristol, Bristol, UK.; Clinical Genetics Service, St. Michaels Hospital, Bristol, UK.; Voronova A; Department of Medical Genetics, Faculty of Medicine & Dentistry, University of Alberta, Edmonton, AB, T6G 2H7, Canada. voronova@ualberta.ca.; Women and Children's Health Research Institute, University of Alberta, 5-083 Edmonton Clinic Health Academy, Edmonton, AB, T6G 1C9, Canada. voronova@ualberta.ca.; Department of Cell Biology, Faculty of Medicine & Dentistry, University of Alberta, Edmonton, AB, T6G 2H7, Canada. voronova@ualberta.ca.; Faculty of Medicine & Dentistry, Neuroscience and Mental Health Institute, Edmonton, AB, T6G 2E1, Canada. voronova@ualberta.ca.

Publisher: BioMed Central Country of Publication: England NLM ID: 101190723 Publication Model: Electronic Cited Medium: Internet ISSN: 1741-7015 (Electronic) Linking ISSN: 17417015 NLM ISO Abbreviation: BMC Med Subsets: MEDLINE

Meester JAN; Center of Medical Genetics, University of Antwerp and Antwerp University Hospital, Antwerp, Belgium.; Hebert A; Center of Medical Genetics, University of Antwerp and Antwerp University Hospital, Antwerp, Belgium.; Bastiaansen M; Center of Medical Genetics, University of Antwerp and Antwerp University Hospital, Antwerp, Belgium.; Rabaut L; Center of Medical Genetics, University of Antwerp and Antwerp University Hospital, Antwerp, Belgium.; Bastianen J; Center of Medical Genetics, University of Antwerp and Antwerp University Hospital, Antwerp, Belgium.; Boeckx N; Center of Medical Genetics, University of Antwerp and Antwerp University Hospital, Antwerp, Belgium.; Ashcroft K; Department of Clinical Genetics, Chapel Allerton Hospital, Leeds Teaching Hospitals, NHS Foundation Trust, Leeds, UK.; Atwal PS; Genomic and Personalized Medicine, Atwal Clinic, Palm Beach, FL, USA.; Benichou A; Department of Internal and Vascular Medicine, CHU Nantes, Nantes Université, Nantes, France.; Billon C; Service de Médecine Génomique des Maladies Rares, Groupe Hospitalier Universitaire Centre, Paris, Assistance Publique Hôpitaux de Paris, Paris, France.; Université de Paris Cité, Inserm, PARCC, Paris, France.; Blankensteijn JD; Department of Vascular Surgery, Amsterdam University Medical Center, Amsterdam, The Netherlands.; Brennan P; Northern Genetics Service, Newcastle upon Tyne Hospitals NHS Foundation Trust, Newcastle upon Tyne, UK.; Bucks SA; GeneDx LLC, Gaithersburg, MD, USA.; Campbell IM; Division of Human Genetics, Children's Hospital of Philadelphia, Philadelphia, PA, USA.; Conrad S; Service de Génétique Médicale, CHU Nantes, Nantes, France.; Curtis SL; Bristol Heart Institute, University Hospitals Bristol & Weston NHS Foundation Trust, Bristol, UK.; Dasouki M; Department of Medical Genetics & Genomics, AdventHealth Medical Group, Orlando, FL, USA.; Dent CL; South West Genomic Laboratory Hub, Bristol Genetics Laboratory, Bristol, UK.; Eden J; North West Genomic Laboratory Hub, Manchester Centre for Genomic Medicine, Manchester, UK.; Goel H; Hunter Genetics, Waratah, NSW, Australia.; Hartill V; Department of Clinical Genetics, Chapel Allerton Hospital, Leeds Teaching Hospitals, NHS Foundation Trust, Leeds, UK.; Leeds Institute of Medical Research, University of Leeds, Leeds, UK.; Houweling AC; Department of Human Genetics, Amsterdam University Medical Center, Vrije Universiteit Amsterdam, Amsterdam, The Netherlands.; Isidor B; Service de Génétique Médicale, CHU Nantes, Nantes, France.; Jackson N; Clinical Genetics Service, University Hospitals Bristol and Weston NHS Foundation Trust, Bristol, UK.; Koopman P; Department of Cardiology, Heart Centre Hasselt, Jessa Hospital, Hasselt, Belgium.; Korpioja A; Department of Clinical Genetics, Research Unit of Clinical Medicine, Medical Research Center Oulu, Oulu University Hospital and University of Oulu, Oulu, Finland.; Kraatari-Tiri M; Department of Clinical Genetics, Research Unit of Clinical Medicine, Medical Research Center Oulu, Oulu University Hospital and University of Oulu, Oulu, Finland.; Kuulavainen L; Department of Medical and Clinical Genetics, University of Helsinki and Helsinki University Hospital, Helsinki, Finland.; Lee K; Department of Medical Genetics & Genomics, AdventHealth Medical Group, Orlando, FL, USA.; Low KJ; Clinical Genetics Department, University Hospitals Bristol and Weston NHS Foundation Trust St Michael's Hospital, Bristol, UK.; University of Bristol, Canynge Hall, Bristol, UK.; Lu AC; Division of Human Genetics, Children's Hospital of Philadelphia, Philadelphia, PA, USA.; McManus ML; Division of Human Genetics, Children's Hospital of Philadelphia, Philadelphia, PA, USA.; Oakley SP; John Hunter Hospital, New Lambton Heights, NSW, Australia.; College of Health, Medicine and Wellbeing, School of Medicine, University of Newcastle, Newcastle, NSW, Australia.; Oliver J; Genomic Diagnostics Laboratory, Manchester Centre for Genomic Medicine, Manchester, UK.; Organ NM; John Hunter Hospital, New Lambton Heights, NSW, Australia.; Overwater E; Department of Human Genetics, Amsterdam University Medical Center, Vrije Universiteit Amsterdam, Amsterdam, The Netherlands.; Department of Genetics, University Medical Center Groningen, Groningen, The Netherlands.; Revencu N; Center for Human Genetics, Cliniques Universitaires Saint-Luc and Université Catholique de Louvain, Brussels, Belgium.; Trainer AH; Department of Genomic Medicine, The Royal Melbourne Hospital and University of Melbourne, Parkville, Melbourne, VIC, Australia.; Trivedi B; Department of Medical Genetics & Genomics, AdventHealth Medical Group, Orlando, FL, USA.; Turner CLS; Department of Clinical Genetics, Royal Devon and Exeter NHS Foundation Trust, Exeter, UK.; Whittington R; South West Genomic Laboratory Hub, Bristol Genetics Laboratory, Bristol, UK.; Zankl A; Children's Hospital at Westmead Clinical School, Faculty of Medicine and Health, University of Sydney, Sydney, NSW, Australia.; Department of Clinical Genetics, Children's Hospital at Westmead, Sydney, NSW, Australia.; Garvan Institute of Medical Research, Sydney, NSW, Australia.; Zentner D; Department of Genomic Medicine, The Royal Melbourne Hospital and University of Melbourne, Parkville, Melbourne, VIC, Australia.; Van Laer L; Center of Medical Genetics, University of Antwerp and Antwerp University Hospital, Antwerp, Belgium.; Verstraeten A; Center of Medical Genetics, University of Antwerp and Antwerp University Hospital, Antwerp, Belgium.; Loeys BL; Center of Medical Genetics, University of Antwerp and Antwerp University Hospital, Antwerp, Belgium. bart.loeys@uantwerpen.be.; Department of Clinical Genetics, Radboud University Medical Center, Nijmegen, The Netherlands. bart.loeys@uantwerpen.be.

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

Mak CCY; Department of Paediatrics and Adolescent Medicine, School of Clinical Medicine, The University of Hong Kong, Hong Kong SAR, China.; Klinkhammer H; Institute for Genomic Statistics and Bioinformatics, University Hospital Bonn, Rheinische Friedrich-Wilhelms-Universität Bonn, Bonn, Germany; Institute for Medical Biometry, Informatics and Epidemiology, University Hospital Bonn, Rheinische Friedrich-Wilhelms-Universität Bonn, Bonn, Germany.; Choufani S; Genetics and Genome Biology Program, Research Institute, The Hospital for Sick Children, Toronto, ON, M5G 1X8, Canada.; Reko N; Genetics and Genome Biology Program, Research Institute, The Hospital for Sick Children, Toronto, ON, M5G 1X8, Canada.; Christman AK; Department of Pediatrics, University of Washington, Seattle, WA, 98195, USA.; Pisan E; Laboratory of Embryology and Genetics of Human Malformations, Institut National de la Santé et de la Recherche Médicale (INSERM) UMR 1163, Institut Imagine, Université Paris Cité, Paris, 75015, France.; Chui MMC; Department of Paediatrics and Adolescent Medicine, School of Clinical Medicine, The University of Hong Kong, Hong Kong SAR, China.; Lee M; Department of Paediatrics and Adolescent Medicine, School of Clinical Medicine, The University of Hong Kong, Hong Kong SAR, China.; Leduc F; CHU Lille, Centre de Référence Anomalies du Développement et Syndromes Malformatifs, Lille, F-59000, France.; Dempsey JC; Department of Pediatrics, University of Washington, Seattle, WA, 98195, USA.; Sanchez-Lara PA; Department of Pediatrics, Cedars-Sinai Medical Center, Los Angeles, CA, USA; Department of Pediatrics, Guerin Children's at Cedars Sinai Medical Center, Los Angeles, CA, USA.; Bombei HM; Division of Medical Genetics and Genomics, Stead Family Department of Pediatrics, University of Iowa Hospitals, Iowa City, IA, USA.; Bernat JA; Division of Medical Genetics and Genomics, Stead Family Department of Pediatrics, University of Iowa Hospitals, Iowa City, IA, USA.; Faivre L; Centre de Génétique et Centre de Référence Anomalies du Développement et Syndromes Malformatifs, FHU TRANSLAD, Institut GIMI, Hôpital d'Enfants, CHU Dijon-Bourgogne, Dijon, France; Equipe GAD INSERM UMR1231, Université de Bourgogne Franche Comté, Dijon, France.; Mau-Them FT; Centre de Génétique et Centre de Référence Anomalies du Développement et Syndromes Malformatifs, FHU TRANSLAD, Institut GIMI, Hôpital d'Enfants, CHU Dijon-Bourgogne, Dijon, France; UF 6254 Innovation en diagnostic Génomique des Maladies Rares, Centre Hospitalier Universitaire de Dijon, Dijon, France.; Palafoll IV; Department of Clinical and Molecular Genetics, University Hospital Vall d'Hebron and Medicine Genetics Group, Valle Hebron Research Institute, Barcelona, Spain.; Canham N; Liverpool Centre for Genomic Medicine, Liverpool Women's Hospital, Crown Street, Liverpool, UK.; Sarkar A; Department of Clinical Genetics, Nottingham University Hospitals National Health Service Trust, Nottingham, NG5 1PB, UK.; Zarate YA; Section of Genetics and Metabolism, University of Arkansas for Medical Sciences, Little Rock, AR, 72701, USA; Division of Genetics and Metabolism, University of Kentucky, Lexington, KY, USA.; Callewaert B; Center for Medical Genetics, Ghent University Hospital, Ghent, Belgium; Department of Biomolecular Medicine, Ghent University, Ghent, Belgium.; Bukowska-Olech E; Department of Laboratory Diagnostics, Poznan University of Medical Sciences, Poznan, Poland.; Jamsheer A; Department of Medical Genetics, Poznan University of Medical Sciences, Poznan, Poland; Diagnostyka GENESIS, Center for Medical Genetics in Poznan, Poland.; Zankl A; Department of Clinical Genetics, The Children's Hospital at Westmead, Sydney, Australia; Faculty of Medicine and Health, The University of Sydney, Sydney, Australia; Garvan Institute of Medical Research, Sydney, Australia.; Willems M; Unité INSERM U 1051, Département de Génétique Médicale, CHRU de Montpellier, Montpellier, France.; Duncan L; Department of Pediatrics at Vanderbilt University Medical Center, Nashville, TN, USA.; Isidor B; Service de Génétique Médicale and L'institut du Thorax, CHU Nantes, Nantes Université, CNRS, INSERM, Nantes, France.; Cogne B; Medical Genetics Service, Nantes University Hospital Center, Nantes, France.; Boute O; CHU Lille, Centre de Référence Anomalies du Développement et Syndromes Malformatifs, Lille, F-59000, France.; Vanlerberghe C; CHU Lille, Centre de Référence Anomalies du Développement et Syndromes Malformatifs, Lille, F-59000, France.; Goldenberg A; Normandie Univ, UNIROUEN, Inserm U1245, CHU Rouen, Department of Genetics and Reference Center for Developmental Disorders, FHU G4 Génomique, Rouen, F-76000, France.; Stolerman E; Greenwood Genetic Center, SC, USA.; Low KJ; Centre for Academic Child Health, Bristol Medical School, University of Bristol, UK; Department of Clinical Genetics, UHBW NHS Trust, Bristol, UK.; Gilard V; Department of Pediatric Neurosurgery, Rouen University Hospital, Rouen, 76000, France.; Amiel J; Laboratory of Embryology and Genetics of Human Malformations, Institut National de la Santé et de la Recherche Médicale (INSERM) UMR 1163, Institut Imagine, Université Paris Cité, Paris, 75015, France.; Lin AE; Medical Genetics, Mass General for Children, Boston, MA, 02114, USA.; Gordon CT; Laboratory of Embryology and Genetics of Human Malformations, Institut National de la Santé et de la Recherche Médicale (INSERM) UMR 1163, Institut Imagine, Université Paris Cité, Paris, 75015, France.; Doherty D; Department of Pediatrics, University of Washington, Seattle, WA, 98195, USA.; Krawitz PM; Institute for Genomic Statistics and Bioinformatics, University Hospital Bonn, Rheinische Friedrich-Wilhelms-Universität Bonn, Bonn, Germany.; 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.; Hsieh TC; Institute for Genomic Statistics and Bioinformatics, University Hospital Bonn, Rheinische Friedrich-Wilhelms-Universität Bonn, Bonn, Germany. Electronic address: thsieh@uni-bonn.de.; Chung BHY; Department of Paediatrics and Adolescent Medicine, School of Clinical Medicine, The University of Hong Kong, Hong Kong SAR, China. Electronic address: bhychung@hku.hk.

Publisher: Elsevier B.V Country of Publication: Netherlands NLM ID: 101647039 Publication Model: Print-Electronic Cited Medium: Internet ISSN: 2352-3964 (Electronic) Linking ISSN: 23523964 NLM ISO Abbreviation: EBioMedicine 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

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

Grimes H; Department of Clinical Genetics, University Hospitals Bristol and Weston NHS Trust, Bristol, UK.; Ansari M; South East Scotland Genetics Service, Western General Hospital, Edinburgh, UK.; Ashraf T; Department of Clinical Genetics, Great Ormond Street Hospital, London, UK.; Cueto-González AM; Department of Clinical and Molecular Genetics, Vall d'Hebron Barcelona Hospital Campus, Barcelona, Spain.; Medicine Genetics Group, Vall Hebron Research Institute (VHIR), Vall d'Hebron Barcelona Hospital Campus, Autonomous University of Barcelona, Barcelona, Spain.; Calder A; Department of Radiology, Great Ormond Street Hospital, London, UK.; Day M; Exeter Genetics Laboratory, Royal Devon and Exeter NHS Trust, Exeter, UK.; Fernandez Alvarez P; Department of Clinical and Molecular Genetics, Vall d'Hebron Barcelona Hospital Campus, Barcelona, Spain.; Foster A; Department of Clinical Genetics, West Midlands Regional Genetics Centre, Birmingham, UK.; Lahiri N; Department of Clinical Genetics, St Georges University Hospital NHS Foundation Trust, London, UK.; Department of Clinical and Molecular Science, St Georges University of London, London, UK.; Repetto GM; Centro de Genética y Genómica, Facultad de Medicina Clínica Alemana Universidad del Desarrollo, Santiago, Chile.; Scurr I; Department of Clinical Genetics, University Hospitals Bristol and Weston NHS Trust, Bristol, UK.; Varghese V; All Wales Medical Genomics Services, University Hospital of Wales, Cardiff, UK.; Low KJ; Department of Clinical Genetics, University Hospitals Bristol and Weston NHS Trust, Bristol, UK.; Centre for Academic Child Health, University of Bristol, Bristol, 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

Peron A; Division of Medical Genetics, Department of Pediatrics, University of Utah School of Medicine, Salt Lake City, UT, USA. angela.peron@unifi.it.; Medical Genetics, ASST Santi Paolo e Carlo, San Paolo Hospital, Milano, Italy. angela.peron@unifi.it.; Department of Experimental and Clinical Biomedical Sciences, Università degli Studi di Firenze, Firenze, Italy. angela.peron@unifi.it.; Medical Genetics, Meyer Children's Hospital IRCCS, Firenze, Italy. angela.peron@unifi.it.; D'Arco F; Department of Radiology, Great Ormond Street Hospital for Children, London, UK.; Aldinger KA; Department of Pediatrics, University of Washington School of Medicine, Seattle, WA, USA.; Center for Integrative Brain Research, Seattle Children's Research Institute, Seattle, WA, USA.; Smith-Hicks C; Department of Neurology, Johns Hopkins University School of Medicine, Baltimore, MD, USA.; Department of Neurogenetics, Kennedy Krieger Institute, Baltimore, MD, USA.; Zweier C; Institute of Human Genetics, Universitätsklinikum Erlangen, Friedrich-Alexander-Universität Erlangen-Nürnberg (FAU), Erlangen, Germany.; Department of Human Genetics, Inselspital, Bern University Hospital, University of Bern, Bern, Switzerland.; Gradek GA; Department of Medical Genetics, Haukeland University Hospital, Bergen, Norway.; Bradbury K; Department of Medical Genetics, Guy's and St. Thomas' NHS Foundation Trust, London, UK.; Wessex Regional Genetics Service, Princess Anne Hospital, Southampton, UK.; Accogli A; Genomics and Clinical Genetics, IRCCS Istituto Giannina Gaslini, Genova, Italy.; U.O.C. Genetica Medica, IRCCS Istituto Giannina Gaslini, Genova, Italy.; Andersen EF; ARUP Laboratories, Cytogenetics and Genomic Microarray, Salt Lake City, UT, USA.; Department of Pathology, University of Utah, Salt Lake City, UT, USA.; Au PYB; Department of Pediatrics, Division of Medical Genetics, Alberta Children's Hospital Research Institute, Cumming School of Medicine, University of Calgary, Calgary, AB, Canada.; Battini R; IRCCS Fondazione Stella Maris, Pisa, Italy.; Dipartimento di Medicina Clinica e Sperimentale, University of Pisa, Pisa, Italy.; Beleford D; Division of Medical Genetics, Department of Pediatrics, Benioff Children's Hospital, University of California, San Francisco, CA, USA.; Department of Pediatrics and Physiology & Membrane Biology, University of California, Davis, CA, USA.; Bird LM; Department of Pediatrics, University of California San Diego, San Diego, CA, USA.; Division of Genetics/Dysmorphology, Rady Children's Hospital San Diego, San Diego, CA, USA.; Bouman A; Department of Clinical Genetics, Erasmus MC University Medical Center, Rotterdam, The Netherlands.; Bruel AL; INSERM UMR 1231 Equipe GAD, Université de Bourgogne, Dijon, France.; Unité Fonctionnelle d'Innovation diagnostique des maladies rares, FHU-TRANSLAD, CHU Dijon Bourgogne, Dijon, France.; Busk ØL; Department of Medical Genetics, Telemark Hospital Trust, 3710, Skien, Norway.; Campeau PM; Department of Pediatrics, CHU Sainte-Justine and University of Montreal, Montreal, QC, Canada.; Capra V; Genomics and Clinical Genetics, IRCCS Istituto Giannina Gaslini, Genova, Italy.; Carlston C; Division of Genetics and Genomics, Boston Children's Hospital, Boston, MA, USA.; Carmichael J; Department of Clinical Genetics, Addenbrooke's Hospital, Cambridge, UK.; Chassevent A; Department of Neurogenetics, Kennedy Krieger Institute, Baltimore, MD, USA.; Clayton-Smith J; Division of Evolution and Genomic Sciences School of Biological Sciences University of Manchester, Manchester, UK.; Manchester Centre for Genomic Medicine, St Mary's Hospital, Manchester University NHS Foundation Trust, Manchester, UK.; Bamshad MJ; Division of Genetic Medicine, Seattle Children's Hospital, Seattle, WA, USA.; University of Washington, Seattle, WA, USA.; Earl DL; Division of Genetic Medicine, Seattle Children's Hospital, Seattle, WA, USA.; University of Washington, Seattle, WA, USA.; Faivre L; INSERM UMR 1231 Equipe GAD, Université de Bourgogne, Dijon, France.; Centre de Référence Maladies Rares Anomalies du développement et syndromes malformatifs, Centre de Génétique, FHU-TRANSLAD, CHU Dijon Bourgogne, Dijon, France.; Philippe C; INSERM UMR 1231 Equipe GAD, Université de Bourgogne, Dijon, France.; Unité Fonctionnelle d'Innovation diagnostique des maladies rares, FHU-TRANSLAD, CHU Dijon Bourgogne, Dijon, France.; Ferreira P; Department of Pediatrics, Division of Medical Genetics, Alberta Children's Hospital Research Institute, Cumming School of Medicine, University of Calgary, Calgary, AB, Canada.; Graul-Neumann L; Universitätsmedizin Berlin, Institut für Medizinische Genetik und Humangenetik, Berlin, Germany.; Green MJ; Experimental Histopathology Laboratory, The Francis Crick Institute, London, UK.; Haffner D; Department of Pediatrics, Division of Pediatric Neurology, Nationwide Children's Hospital and Ohio State University, Columbus, OH, USA.; Haldipur P; Center for Integrative Brain Research, Seattle Children's Research Institute, Seattle, WA, USA.; Hanna S; Department of Pediatric Immunology, Rappaport Children's Hospital, Rambam Health Care Campus, Haifa, Israel.; Rappaport Faculty of Medicine, Technion - Israel Institute of Technology, Haifa, Israel.; Houge G; Department of Medical Genetics, Haukeland University Hospital, Bergen, Norway.; Jones WD; North East Thames Regional Genetics Service, Great Ormond Street Hospital for Children, Great Ormond Street, London, UK.; Kraus C; Institute of Human Genetics, Universitätsklinikum Erlangen, Friedrich-Alexander-Universität Erlangen-Nürnberg (FAU), Erlangen, Germany.; Kristiansen BE; Department of Neurohabilitation, Oslo University Hospital, Oslo, Norway.; Lespinasse J; HDR - Service de Génétique Médicale, Centre Hospitalier Métropole Savoie, Chambery, France.; Low KJ; Clinical Genetics Service, University Hospitals Bristol and Weston NHS trust, Bristol, UK.; Lynch SA; Department of Clinical Genetics, Children's Health Ireland at Crumlin, Dublin, Ireland.; Maia S; Medical Genetics Unit, Hospital Pediátrico, Centro Hospitalar Universidade de Coimbra, Coimbra, Portugal.; Mao R; Department of Pathology, University of Utah, Salt Lake City, UT, USA.; Kalinauskiene R; Manchester Centre for Genomic Medicine, St Mary's Hospital, Manchester University NHS Foundation Trust, Manchester, UK.; Department of Medical Genetics, Guy's and St. Thomas' NHS Foundation Trust, London, UK.; Melver C; Division of Medical Genetics, Akron Children's Hospital, Akron, OH, USA.; McDonald K; University of Mississippi Medical Center, Jackson, MS, USA.; Montgomery T; Northern Genetics Service, Institute of Genetic Medicine, Newcastle upon Tyne NHS Foundation Trust, Newcastle, UK.; Morleo M; Telethon Institute of Genetics and Medicine, Pozzuoli, Napoli, Italy.; Department of Precision Medicine, University of Campania 'Luigi Vanvitelli', Napoli, Italy.; Motter C; Division of Medical Genetics, Akron Children's Hospital, Akron, OH, USA.; Openshaw AS; ARUP Laboratories, Cytogenetics and Genomic Microarray, Salt Lake City, UT, USA.; Palumbos JC; Division of Medical Genetics, Department of Pediatrics, University of Utah School of Medicine, Salt Lake City, UT, USA.; Parikh AS; Department of Genetics and Genome Sciences, Case Western Reserve University, Cleveland, OH, USA.; Center for Human Genetics, University Hospitals Cleveland Medical Center, Cleveland, OH, USA.; Perilla-Young Y; Division of Pediatric Genetics and Metabolism, University of North Carolina, Chapel Hill, NC, USA.; Powell CM; Division of Pediatric Genetics and Metabolism, University of North Carolina, Chapel Hill, NC, USA.; Person R; GeneDx, Gaithersburg, MD, USA.; Desai M; GeneDx, Gaithersburg, MD, USA.; Piard J; Centre de Génétique Humaine, Université de Franche-Comté, CHU, Besançon, France.; Pfundt R; Department of Human Genetics, Donders Institute for Brain, Cognition and Behavior, Radboud University Medical Center, Nijmegen, the Netherlands.; Scala M; U.O.C. Genetica Medica, IRCCS Istituto Giannina Gaslini, Genova, Italy.; Pediatric Neurology and Muscular Diseases Unit, IRCCS Istituto Giannina Gaslini, Genova, Italy.; Serey-Gaut M; Centre de Génétique Humaine, Université de Franche-Comté, CHU, Besançon, France.; Centre de Recherche en Audiologie, Hôpital Necker, AP-HP. CUP, Paris, France.; Shears D; Oxford Centre for Genomic Medicine, Oxford University Hospitals NHS Foundation Trust, Oxford, UK.; Slavotinek A; Division of Medical Genetics, Department of Pediatrics, Benioff Children's Hospital, University of California, San Francisco, CA, USA.; Division of Human Genetics, Cincinnati Children's Hospital, and Department of Pediatrics, College of Medicine, University of Cincinnati, Cincinnati, OH, USA.; Suri M; Nottingham Clinical Genetics Service; Nottingham University Hospitals NHS Trust, Nottingham, UK.; Turner C; Clinical Genetics, Royal Devon and Exeter NHS Foundation Trust, Exeter, UK.; Tvrdik T; Department of Pathology and Laboratory Medicine, Emory University School of Medicine, Atlanta, GA, USA.; Weiss K; Rappaport Faculty of Medicine, Technion - Israel Institute of Technology, Haifa, Israel.; Genetics Institute, Rambam Health Care Campus, Haifa, Israel.; Wentzensen IM; GeneDx, Gaithersburg, MD, USA.; Zollino M; Dipartimento Universitario Scienze della Vita e Sanità Pubblica, Sezione di Medicina Genomica, Università Cattolica Sacro Cuore, Roma, Italy.; Genetica Medica, Fondazione Policlinico Universitario A. Gemelli IRCCS, Roma, Italy.; Hsieh TC; Institute for Genomic Statistics and Bioinformatics, University Hospital Bonn, Rheinische Friedrich-Wilhelms-Universität Bonn, Bonn, Germany.; de Vries BBA; Department of Human Genetics, Donders Institute for Brain, Cognition and Behavior, Radboud University Medical Center, Nijmegen, the Netherlands.; Guillemot F; Neural Stem Cell Biology Laboratory, The Francis Crick Institute, London, UK.; Dobyns WB; Center for Integrative Brain Research, Seattle Children's Research Institute, Seattle, WA, USA.; Division of Genetics and Metabolism, Department of Pediatrics, University of Minnesota, Minneapolis, MN, USA.; Viskochil D; Division of Medical Genetics, Department of Pediatrics, University of Utah School of Medicine, Salt Lake City, UT, USA.; Dias C; Department of Medical Genetics, Guy's and St. Thomas' NHS Foundation Trust, London, UK. cristina.dias@kcl.ac.uk.; North East Thames Regional Genetics Service, Great Ormond Street Hospital for Children, Great Ormond Street, London, UK. cristina.dias@kcl.ac.uk.; Neural Stem Cell Biology Laboratory, The Francis Crick Institute, London, UK. cristina.dias@kcl.ac.uk.; Department of Medical & Molecular Genetics, School of Basic and Medical Biosciences, Faculty of Life Sciences & Medicine, King's College London, London, UK. cristina.dias@kcl.ac.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

Post MA; Department of Neurology, Donders institute for Brain, Cognition and Behavior, Radboud University Medical Center, Nijmegen, The Netherlands.; de Wit I; Department of Pediatrics, Amalia Children's Hospital, Radboud University Medical Center, Nijmegen, The Netherlands.; On behalf of United for Metabolic Diseases, Amsterdam, The Netherlands.; Zijlstra FSM; Translational Metabolic Laboratory, Department of Laboratory Medicine, Radboud Institute for Molecular Life Sciences, Radboud University Medical Center, Nijmegen, The Netherlands.; Engelke UFH; Translational Metabolic Laboratory, Department of Laboratory Medicine, Radboud Institute for Molecular Life Sciences, Radboud University Medical Center, Nijmegen, The Netherlands.; van Rooij A; Translational Metabolic Laboratory, Department of Laboratory Medicine, Radboud Institute for Molecular Life Sciences, Radboud University Medical Center, Nijmegen, The Netherlands.; Christodoulou J; Genomic Medicine Research Theme, Murdoch Children's Research Institute and Department of Pediatrics, University of Melbourne, Melbourne, Australia.; Tan TY; Genomic Medicine Research Theme, Murdoch Children's Research Institute and Department of Pediatrics, University of Melbourne, Melbourne, Australia.; Victorian Clinical Genetics Services, Murdoch Children's Research Institute, Melbourne, Australia.; Le Fevre A; Victorian Clinical Genetics Services, Murdoch Children's Research Institute, Melbourne, Australia.; Jin D; Pediatric Intensive Care Unit, Anhui Provincial Children's Hospital, Hefei, China.; Yaplito-Lee J; Victorian Clinical Genetics Services, Murdoch Children's Research Institute, Melbourne, Australia.; Department of Metabolic Medicine, The Royal Children's Hospital Melbourne, Parkville, Australia.; Lee BH; Department of Pediatrics, Asan Medical Center Children's Hospital, University of Ulsan College of Medicine, Seoul, South Korea.; Low KJ; School of Clinical Sciences, University of Bristol, Bristol, UK.; Clinical Genetics, St. Michael's Hospital, University Hospitals NHS Trust, Bristol, UK.; Mallick AA; Department of Pediatric Neurology, Bristol Royal Hospital for Children, Bristol, UK.; Õunap K; Department of Clinical Genetics, Genetics and Personalized Medicine Clinic, Tartu University Hospital, Tartu, Estonia.; Department of Clinical Genetics, Institute of Clinical Medicine, University of Tartu, Tartu, Estonia.; Pitt J; Victorian Clinical Genetics Services, Murdoch Children's Research Institute, Melbourne, Australia.; Reardon W; Clinical Genetics, Children's Health Ireland (CHI), Crumlin, Ireland.; Vals MA; Department of Clinical Genetics, Institute of Clinical Medicine, University of Tartu, Tartu, Estonia.; Children's Clinic, Tartu University Hospital, Tartu, Estonia.; Wortmann SB; Department of Pediatrics, Amalia Children's Hospital, Radboud University Medical Center, Nijmegen, The Netherlands.; University Children's Hospital, Paracelsus Medical University, Salzburg, Austria.; Wessels HJCT; Translational Metabolic Laboratory, Department of Laboratory Medicine, Radboud Institute for Molecular Life Sciences, Radboud University Medical Center, Nijmegen, The Netherlands.; Bärenfänger M; Department of Neurology, Donders institute for Brain, Cognition and Behavior, Radboud University Medical Center, Nijmegen, The Netherlands.; Division of Bioanalytical Chemistry, VU Amsterdam, Amsterdam, The Netherlands.; van Karnebeek CDM; Department of Pediatrics, Amalia Children's Hospital, Radboud University Medical Center, Nijmegen, The Netherlands.; On behalf of United for Metabolic Diseases, Amsterdam, The Netherlands.; Departments of Pediatrics and Human Genetics, Emma Center for Personalized Medicine, Amsterdam University Medical Centers, Amsterdam, The Netherlands.; Lefeber DJ; Department of Neurology, Donders institute for Brain, Cognition and Behavior, Radboud University Medical Center, Nijmegen, The Netherlands.; On behalf of United for Metabolic Diseases, Amsterdam, The Netherlands.; Translational Metabolic Laboratory, Department of Laboratory Medicine, Radboud Institute for Molecular Life Sciences, Radboud University Medical Center, Nijmegen, 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

Copeland H; Peninsula Clinical Genetics, Clinical Genetics, Royal Devon University Healthcare NHS Foundation Trust, Exeter, United Kingdom.; Low KJ; Bristol Regional Clinical Genetics Service, Level B, St Michael's Hospital, Bristol, United Kingdom.; Centre for Academic Child Health, Bristol Medical School, University of Bristol, Bristol, United Kingdom.; Wynn SL; Unique (Rare Chromosome Disorder Support Group), Oxted, Surrey, United Kingdom.; Ahmed A; All Wales Medical Genomics Service, Wales Genomic Health Centre, Cardiff Edge Business Park, Whitchurch, Cardiff, United Kingdom.; Arthur V; Manchester Centre for Genomic Medicine, St Mary's Hospital, Manchester, United Kingdom.; Balasubramanian M; Sheffield Clinical Genomics Service, Sheffield Children's NHS Foundation Trust, Sheffield, United Kingdom.; Bennett K; Liverpool Centre for Genomic Medicine, Liverpool Women's Hospital, Liverpool, United Kingdom.; Berg J; Clinical Genetics, Human Genetics Unit, Ninewells Hospital, Dundee, United Kingdom.; Bertoli M; Northern Genetics Service, The Newcastle upon Tyne Hospitals NHS Foundation Trust, Institute of Genetic Medicine, International Centre for Life, Newcastle upon Tyne, United Kingdom.; Bryson L; West of Scotland Centre for Genomic Medicine, Laboratory Medicine Building, Queen Elizabeth University Hospital, Glasgow, United Kingdom.; Bucknall C; All Wales Medical Genomics Service, Wales Genomic Health Centre, Cardiff Edge Business Park, Whitchurch, Cardiff, United Kingdom.; Campbell J; North of Scotland Regional Genetics Service, Clinical Genetics Centre, Ashgrove House, Aberdeen Royal Infirmary, Foresterhill, Aberdeen, United Kingdom.; Chandler K; Manchester Centre for Genomic Medicine, St Mary's Hospital, Manchester, United Kingdom.; Chauhan J; Yorkshire Regional Genetics Service, Chapel Allerton Hospital, Leeds, United Kingdom.; Clarkson A; Northern Genetics Service, The Newcastle upon Tyne Hospitals NHS Foundation Trust, Institute of Genetic Medicine, International Centre for Life, Newcastle upon Tyne, United Kingdom.; Coles R; North West Thames Regional Genetics Service, London North West University Healthcare NHS Trust, Northwick Park Hospital, Harrow, United Kingdom.; Conti H; All Wales Medical Genomics Service, Wales Genomic Health Centre, Cardiff Edge Business Park, Whitchurch, Cardiff, United Kingdom.; Costello P; Wessex Clinical Genetics Service, Princess Anne Hospital, Southampton, United Kingdom.; Coupar T; Clinical Genetics, Human Genetics Unit, Ninewells Hospital, Dundee, United Kingdom.; Craig A; South West Thames Centre for Genomics, St. George's University Hospital, Tooting, London, United Kingdom.; Dean J; North of Scotland Regional Genetics Service, Clinical Genetics Centre, Ashgrove House, Aberdeen Royal Infirmary, Foresterhill, Aberdeen, United Kingdom.; Dillon A; Manchester Centre for Genomic Medicine, St Mary's Hospital, Manchester, United Kingdom.; Dixit A; Nottingham Regional Genetics Service, Nottingham City Hospital Campus, The Gables, Nottingham, United Kingdom.; Drew K; West Midlands Regional Genetics Service, Department of Clinical Genetics, Birmingham Women's Hospital, Edgbaston, United Kingdom.; Eason J; Nottingham Regional Genetics Service, Nottingham City Hospital Campus, The Gables, Nottingham, United Kingdom.; Forzano F; Department of Clinical Genetics, Guy's Hospital, London, United Kingdom.; Foulds N; Wessex Clinical Genetics Service, Princess Anne Hospital, Southampton, United Kingdom.; Gardham A; North West Thames Regional Genetics Service, London North West University Healthcare NHS Trust, Northwick Park Hospital, Harrow, United Kingdom.; Ghali N; North West Thames Regional Genetics Service, London North West University Healthcare NHS Trust, Northwick Park Hospital, Harrow, United Kingdom.; Green A; Department of Clinical Genetics, Children's Health Ireland, Crumlin, Ireland.; Hanna W; Northern Ireland Regional Genetics Service, Medical Genetics Department, Belfast City Hospital, Belfast, United Kingdom.; Harrison R; Nottingham Regional Genetics Service, Nottingham City Hospital Campus, The Gables, Nottingham, United Kingdom.; Hegarty M; Northern Ireland Regional Genetics Service, Medical Genetics Department, Belfast City Hospital, Belfast, United Kingdom.; Higgs J; Liverpool Centre for Genomic Medicine, Liverpool Women's Hospital, Liverpool, United Kingdom.; Holder M; Department of Clinical Genetics, Guy's Hospital, London, United Kingdom.; Irving R; All Wales Medical Genomics Service, Wales Genomic Health Centre, Cardiff Edge Business Park, Whitchurch, Cardiff, United Kingdom.; Jain V; All Wales Medical Genomics Service, Wales Genomic Health Centre, Cardiff Edge Business Park, Whitchurch, Cardiff, United Kingdom.; Johnson K; Nottingham Regional Genetics Service, Nottingham City Hospital Campus, The Gables, Nottingham, United Kingdom.; Jolley R; West Midlands Regional Genetics Service, Department of Clinical Genetics, Birmingham Women's Hospital, Edgbaston, United Kingdom.; Jones WD; North East Thames Regional Genetics Service, Clinical Genetics Unit, Great Ormond Street Hospital NHS Trust, London, United Kingdom.; Jones G; Nottingham Regional Genetics Service, Nottingham City Hospital Campus, The Gables, Nottingham, United Kingdom.; Joss S; West of Scotland Centre for Genomic Medicine, Laboratory Medicine Building, Queen Elizabeth University Hospital, Glasgow, United Kingdom.; Kalinauskiene R; Department of Clinical Genetics, Guy's Hospital, London, United Kingdom.; Kanani F; Sheffield Clinical Genomics Service, Sheffield Children's NHS Foundation Trust, Sheffield, United Kingdom.; Kavanagh K; Department of Clinical Genetics, Children's Health Ireland, Crumlin, Ireland.; Khan M; North West Thames Regional Genetics Service, London North West University Healthcare NHS Trust, Northwick Park Hospital, Harrow, United Kingdom.; Khan N; Manchester Centre for Genomic Medicine, St Mary's Hospital, Manchester, United Kingdom.; Kivuva E; Peninsula Clinical Genetics, Clinical Genetics, Royal Devon University Healthcare NHS Foundation Trust, Exeter, United Kingdom.; Lahiri N; South West Thames Centre for Genomics, St. George's University Hospital, Tooting, London, United Kingdom.; Lakhani N; Leicestershire, Northamptonshire and Rutland Genomic Medicine Service, Leicester Royal Infirmary, University Hospitals of Leicester NHS Trust, Leicester, United Kingdom.; Lampe A; South East Scotland Clinical Genetics Service, Western General Hospital, Edinburgh, United Kingdom.; Lynch SA; Department of Clinical Genetics, Children's Health Ireland, Crumlin, Ireland.; Mansour S; South West Thames Centre for Genomics, St. George's University Hospital, Tooting, London, United Kingdom.; Marsden A; Liverpool Centre for Genomic Medicine, Liverpool Women's Hospital, Liverpool, United Kingdom.; Massey H; North of Scotland Regional Genetics Service, Clinical Genetics Centre, Ashgrove House, Aberdeen Royal Infirmary, Foresterhill, Aberdeen, United Kingdom.; McKee S; Northern Ireland Regional Genetics Service, Medical Genetics Department, Belfast City Hospital, Belfast, United Kingdom.; Mohammed S; Department of Clinical Genetics, Guy's Hospital, London, United Kingdom.; Naik S; West Midlands Regional Genetics Service, Department of Clinical Genetics, Birmingham Women's Hospital, Edgbaston, United Kingdom.; Nesarajah M; Manchester Centre for Genomic Medicine, St Mary's Hospital, Manchester, United Kingdom.; Newbury-Ecob R; Bristol Regional Clinical Genetics Service, Level B, St Michael's Hospital, Bristol, United Kingdom.; Osborne F; South East Scotland Clinical Genetics Service, Western General Hospital, Edinburgh, United Kingdom.; Parker MJ; Sheffield Clinical Genomics Service, Sheffield Children's NHS Foundation Trust, Sheffield, United Kingdom.; Patterson J; West of Scotland Centre for Genomic Medicine, Laboratory Medicine Building, Queen Elizabeth University Hospital, Glasgow, United Kingdom.; Pottinger C; All Wales Medical Genomics Service, Wales Genomic Health Centre, Cardiff Edge Business Park, Whitchurch, Cardiff, United Kingdom.; Prapa M; East Anglian Medical Genetics Service, Clinical Genetics, Addenbrooke's Treatment Centre, Addenbrooke's Hospital, Cambridge, United Kingdom.; Prescott K; Yorkshire Regional Genetics Service, Chapel Allerton Hospital, Leeds, United Kingdom.; Quinn S; Department of Clinical Genetics, Children's Health Ireland, Crumlin, Ireland.; Radley JA; North West Thames Regional Genetics Service, London North West University Healthcare NHS Trust, Northwick Park Hospital, Harrow, United Kingdom.; Robart S; North East Thames Regional Genetics Service, Clinical Genetics Unit, Great Ormond Street Hospital NHS Trust, London, United Kingdom.; Ross A; North of Scotland Regional Genetics Service, Clinical Genetics Centre, Ashgrove House, Aberdeen Royal Infirmary, Foresterhill, Aberdeen, United Kingdom.; Rosti G; Department of Clinical Genetics, Guy's Hospital, London, United Kingdom.; Sansbury FH; All Wales Medical Genomics Service, Wales Genomic Health Centre, Cardiff Edge Business Park, Whitchurch, Cardiff, United Kingdom.; Sarkar A; Nottingham Regional Genetics Service, Nottingham City Hospital Campus, The Gables, Nottingham, United Kingdom.; Searle C; Nottingham Regional Genetics Service, Nottingham City Hospital Campus, The Gables, Nottingham, United Kingdom.; Shannon N; Nottingham Regional Genetics Service, Nottingham City Hospital Campus, The Gables, Nottingham, United Kingdom.; Shears D; Oxford Centre for Genomic Medicine, Department of Clinical Genetics, Churchill Hospital, Headington, Oxford, United Kingdom.; Smithson S; Bristol Regional Clinical Genetics Service, Level B, St Michael's Hospital, Bristol, United Kingdom.; Stewart H; Oxford Centre for Genomic Medicine, Department of Clinical Genetics, Churchill Hospital, Headington, Oxford, United Kingdom.; Suri M; Nottingham Regional Genetics Service, Nottingham City Hospital Campus, The Gables, Nottingham, United Kingdom.; Tadros S; North East Thames Regional Genetics Service, Clinical Genetics Unit, Great Ormond Street Hospital NHS Trust, London, United Kingdom.; Theobald R; Northern Genetics Service, The Newcastle upon Tyne Hospitals NHS Foundation Trust, Institute of Genetic Medicine, International Centre for Life, Newcastle upon Tyne, United Kingdom.; Thomas R; South West Thames Centre for Genomics, St. George's University Hospital, Tooting, London, United Kingdom.; Tsoulaki O; Sheffield Clinical Genomics Service, Sheffield Children's NHS Foundation Trust, Sheffield, United Kingdom.; Vasudevan P; Leicestershire, Northamptonshire and Rutland Genomic Medicine Service, Leicester Royal Infirmary, University Hospitals of Leicester NHS Trust, Leicester, United Kingdom.; Rodriguez MV; Yorkshire Regional Genetics Service, Chapel Allerton Hospital, Leeds, United Kingdom.; Vittery E; Northern Genetics Service, The Newcastle upon Tyne Hospitals NHS Foundation Trust, Institute of Genetic Medicine, International Centre for Life, Newcastle upon Tyne, United Kingdom.; Whyte S; North East Thames Regional Genetics Service, Clinical Genetics Unit, Great Ormond Street Hospital NHS Trust, London, United Kingdom.; Woods E; Sheffield Clinical Genomics Service, Sheffield Children's NHS Foundation Trust, Sheffield, United Kingdom.; Wright T; Manchester Centre for Genomic Medicine, St Mary's Hospital, Manchester, United Kingdom.; Zocche D; Oxford Centre for Genomic Medicine, Department of Clinical Genetics, Churchill Hospital, Headington, Oxford, United Kingdom.; Firth HV; East Anglian Medical Genetics Service, Clinical Genetics, Addenbrooke's Treatment Centre, Addenbrooke's Hospital, Cambridge, United Kingdom.; Wellcome Sanger Institute, Wellcome Genome Campus, Hinxton, Cambridge, United Kingdom.; Wright CF; Department of Clinical and Biomedical Sciences, Medical School, University of Exeter, St Luke's Campus, Exeter, United Kingdom.

Publisher: Elsevier Inc Country of Publication: United States NLM ID: 9918734281906676 Publication Model: eCollection Cited Medium: Internet ISSN: 2949-7744 (Electronic) Linking ISSN: 29497744 NLM ISO Abbreviation: Genet Med Open Subsets: PubMed not MEDLINE