Corrigendum

Autor: Le Duc, D, Giulivi, C, Hiatt, SM, Napoli, E, Panoutsopoulos, A, De Crescenzo, AH, Kotzaeridou, U, Syrbe, S, Anagnostou, E, Azage, M, Bend, R, Begtrup, A, Brown, NJ, Büttner, B, Cho, MT, Cooper, GM, Doering, JH, Dubourg, C, Everman, DB, Hildebrand, MS, Santos, FJR, Kellam, B, Keller-Ramey, J, Lemke, JR, Liu, S, Niyazov, D, Payne, K, Person, R, Quélin, C, Schnur, RE, Smith, BT, Strober, J, Walker, S, Wallis, M, Walsh, L, Yang, S, Yuen, RKC, Ziegler, A, Sticht, H, Pride, MC, Orosco, L, Martínez-Cerdenõ, V, Silverman, JL, Crawley, JN, Scherer, SW, Zarbalis, KS, Jamra, R

Publikováno v: Brain : a journal of neurology, vol 142, iss 11

In the original version of this article, authors Jill L. Silverman and Stephen W. Scherer were listed with incorrect affiliations; this has now been corrected.

Externí odkaz: https://explore.openaire.eu/search/publication?articleId=od_______325::4ab7ec64621ae7730a5951ce31aa7417
https://escholarship.org/uc/item/3hj2q3k2

SCYL2-related autosomal recessive neurodevelopmental disorders: Arthrogryposis multiplex congenita-4 and beyond?

Autor: Malbos M; CRMRs 'Anomalies du Développement et syndromes malformatifs' et 'Déficiences Intellectuelles de causes rares', FHU-TRANSLAD, CHU Dijon Bourgogne, Dijon, France.; Laboratoire de Génomique Médicale, UF Innovation en diagnostic génomique des maladies rares, CHU Dijon Bourgogne, Dijon, France., Vera G; Department of Pathology, Department of Genetics and Reference Center for Developmental Abnormalities, Univ Rouen Normandie, Normandie Univ, Inserm U1245 and CHU Rouen, Rouen, France., Sheth H; FRIGE's Institute of Human Genetics, Ahmedabad, India., Schnur RE; Cooper Medical School of Rowan University/Cooper University Health Care, Camden, New Jersey, USA., Juven A; CRMRs 'Anomalies du Développement et syndromes malformatifs' et 'Déficiences Intellectuelles de causes rares', FHU-TRANSLAD, CHU Dijon Bourgogne, Dijon, France.; Laboratoire de Génomique Médicale, UF Innovation en diagnostic génomique des maladies rares, CHU Dijon Bourgogne, Dijon, France., Brehin AC; Department of Pathology, Department of Genetics and Reference Center for Developmental Abnormalities, Univ Rouen Normandie, Normandie Univ, Inserm U1245 and CHU Rouen, Rouen, France., Sheth J; FRIGE's Institute of Human Genetics, Ahmedabad, India., Gandhi A; FRIGE's Institute of Human Genetics, Ahmedabad, India., Shapiro FL; Cooper Medical School of Rowan University/Cooper University Health Care, Camden, New Jersey, USA., Bruel AL; Laboratoire de Génomique Médicale, UF Innovation en diagnostic génomique des maladies rares, CHU Dijon Bourgogne, Dijon, France.; Inserm UMR1231 GAD, Université de Bourgogne-Franche Comté, FHU TRANSLAD, Dijon, France., Marguet F; Department of Pathology, Department of Genetics and Reference Center for Developmental Abnormalities, Univ Rouen Normandie, Normandie Univ, Inserm U1245 and CHU Rouen, Rouen, France., Begtrup A; GeneDx, Gaithersburg, Maryland, USA., Monaghan KG; GeneDx, Gaithersburg, Maryland, USA., Safraou H; Laboratoire de Génomique Médicale, UF Innovation en diagnostic génomique des maladies rares, CHU Dijon Bourgogne, Dijon, France.; Inserm UMR1231 GAD, Université de Bourgogne-Franche Comté, FHU TRANSLAD, Dijon, France., Brasseur-Daudruy M; Radiologie pédiatrique, CHU de Rouen, Rouen, France., Mau-Them FT; Laboratoire de Génomique Médicale, UF Innovation en diagnostic génomique des maladies rares, CHU Dijon Bourgogne, Dijon, France.; Inserm UMR1231 GAD, Université de Bourgogne-Franche Comté, FHU TRANSLAD, Dijon, France., Duffourd Y; Laboratoire de Génomique Médicale, UF Innovation en diagnostic génomique des maladies rares, CHU Dijon Bourgogne, Dijon, France., Faivre L; CRMRs 'Anomalies du Développement et syndromes malformatifs' et 'Déficiences Intellectuelles de causes rares', FHU-TRANSLAD, CHU Dijon Bourgogne, Dijon, France.; Laboratoire de Génomique Médicale, UF Innovation en diagnostic génomique des maladies rares, CHU Dijon Bourgogne, Dijon, France., Thauvin-Robinet C; CRMRs 'Anomalies du Développement et syndromes malformatifs' et 'Déficiences Intellectuelles de causes rares', FHU-TRANSLAD, CHU Dijon Bourgogne, Dijon, France.; Laboratoire de Génomique Médicale, UF Innovation en diagnostic génomique des maladies rares, CHU Dijon Bourgogne, Dijon, France., Benke PJ; Division of Clinical Genetics, Joe DiMaggio Children's Hospital, Hollywood, Florida, USA., Philippe C; Laboratoire de Génomique Médicale, UF Innovation en diagnostic génomique des maladies rares, CHU Dijon Bourgogne, Dijon, France.; Inserm UMR1231 GAD, Université de Bourgogne-Franche Comté, FHU TRANSLAD, Dijon, France.; Laboratoire de Génétique, CHR Metz-Thionville, Hôpital Mercy, Metz, France.

Publikováno v: Clinical genetics [Clin Genet] 2024 Dec; Vol. 106 (6), pp. 757-763. Date of Electronic Publication: 2024 Aug 21.

Mono and biallelic variants in HCN2 cause severe neurodevelopmental disorders.

Autor: Houdayer C, Phillips AM, Chabbert M, Bourreau J, Maroofian R, Houlden H, Richards K, Saadi NW, Dad'ová E, Van Bogaert P, Rupin M, Keren B, Charles P, Smol T, Riquet A, Pais L, O'Donnell-Luria A, VanNoy GE, Bayat A, Møller RS, Olofsson K, Abou Jamra R, Syrbe S, Dasouki M, Seaver LH, Sullivan JA, Shashi V, Alkuraya FS, Poss AF, Spence JE, Schnur RE, Forster IC, Mckenzie CE, Simons C, Wang M, Snell P, Kothur K, Buckley M, Roscioli T, Elserafy N, Dauriat B, Procaccio V, Henrion D, Lenaers G, Colin E, Verbeek NE, Van Gassen KL, Legendre C, Bonneau D, Reid CA, Howell KB, Ziegler A, Legros C

Publikováno v: MedRxiv : the preprint server for health sciences [medRxiv] 2024 Mar 22. Date of Electronic Publication: 2024 Mar 22.

Biallelic variants in SLC4A10 encoding a sodium-dependent bicarbonate transporter lead to a neurodevelopmental disorder.

Autor: Maroofian R; Department of Neuromuscular Diseases, UCL Queen Square Institute of Neurology, London, United Kingdom. Electronic address: r.maroofian@ucl.ac.uk., Zamani M; Department of Biology, Faculty of Science, Shahid Chamran University of Ahvaz, Ahvaz, Iran; Narges Medical Genetics and Prenatal Diagnosis Laboratory, Kianpars, Ahvaz, Iran., Kaiyrzhanov R; Department of Neuromuscular Diseases, UCL Queen Square Institute of Neurology, London, United Kingdom., Liebmann L; Institute of Human Genetics, Jena University Hospital, Friedrich Schiller Universität, Am Klinikum 1, Jena, Germany., Karimiani EG; Molecular and Clinical Sciences Institute, St. George's, University of London, Cranmer Terrace, London, United Kingdom., Vona B; Institute of Human Genetics, University Medical Center Göttingen, Göttingen, Germany; Institute for Auditory Neuroscience and InnerEarLab, University Medical Center Göttingen, Göttingen, Germany., Huebner AK; Institute of Human Genetics, Jena University Hospital, Friedrich Schiller Universität, Am Klinikum 1, Jena, Germany., Calame DG; Division of Neurology and Developmental Neuroscience, Department of Pediatrics, Baylor College of Medicine, Houston, TX; Texas Children's Hospital, Houston, TX; Department of Molecular and Human Genetics, Baylor College of Medicine, Houston, TX., Misra VK; Division of Genetic, Genomic & Metabolic Disorders, Discipline of Pediatrics, College of Medicine, Central Michigan University, Mount Pleasant, MI., Sadeghian S; Department of Pediatric Neurology, Golestan Medical, Educational, and Research Center, Ahvaz Jundishapur University of Medical Sciences, Ahvaz, Iran., Azizimalamiri R; Department of Pediatric Neurology, Golestan Medical, Educational, and Research Center, Ahvaz Jundishapur University of Medical Sciences, Ahvaz, Iran., Mohammadi MH; Department of Pediatrics, Zabol University of Medical Sciences, Zabol, Iran., Zeighami J; Narges Medical Genetics and Prenatal Diagnosis Laboratory, Kianpars, Ahvaz, Iran., Heydaran S; Department of Biology, Faculty of Science, Shahid Chamran University of Ahvaz, Ahvaz, Iran., Toosi MB; Pediatric Neurology Department, Ghaem Hospital, Mashhad University of Medical Sciences, Mashhad, Iran; Neuroscience Research Center, Mashhad University of Medical Science, Mashhad, Iran., Akhondian J; Pediatric Neurology Department, Ghaem Hospital, Mashhad University of Medical Sciences, Mashhad, Iran., Babaei M; Department of Pediatrics, North Khorasan University of Medical Sciences, Bojnurd, Iran., Hashemi N; Department of Pediatrics, School of Medicine, Mashhad University of Medical Sciences, Mashhad, Iran., Schnur RE; GeneDx, Gaithersburg, MD., Suri M; Clinical Genetics Service, Nottingham University Hospitals NHS Trust, Nottingham, United Kingdom., Setzke J; Institute of Human Genetics, University Medical Center Göttingen, Göttingen, Germany; Institute for Auditory Neuroscience and InnerEarLab, University Medical Center Göttingen, Göttingen, Germany., Wagner M; Institute of Human Genetics, Klinikum rechts der Isar, School of Medicine, Technical University of Munich, Munich, Germany; Institute of Neurogenomics, Helmholtz Zentrum München, Neuherberg, Germany; Department of Pediatric Neurology and Developmental Medicine and LMU Center for Children with Medical Complexity, Dr. von Hauner Children's Hospital, LMU Hospital, Ludwig-Maximilians-University, Munich, Germany., Brunet T; Institute of Human Genetics, Klinikum rechts der Isar, School of Medicine, Technical University of Munich, Munich, Germany; Institute of Neurogenomics, Helmholtz Zentrum München, Neuherberg, Germany., Grochowski CM; Department of Molecular and Human Genetics, Baylor College of Medicine, Houston, TX., Emrick L; Division of Neurology and Developmental Neuroscience, Department of Pediatrics, Baylor College of Medicine, Houston, TX; Texas Children's Hospital, Houston, TX; Department of Molecular and Human Genetics, Baylor College of Medicine, Houston, TX., Chung WK; Department of Pediatrics, Boston Children's Hospital, Harvard Medical School, Boston, MA., Hellmich UA; Friedrich Schiller University Jena, Faculty of Chemistry and Earth Sciences, Institute of Organic Chemistry and Macromolecular Chemistry, Jena, Germany; Center for Biomolecular Magnetic Resonance (BMRZ), Goethe University, Frankfurt, Germany; Cluster of Excellence Balance of the Microverse, Friedrich Schiller University Jena, Jena, Germany., Schmidts M; Pediatrics Genetics Division, Center for Pediatrics and Adolescent Medicine, Faculty of Medicine, Freiburg University, Freiburg, Germany; Genome Research Division, Human Genetics Department, Radboud University Medical Center, Nijmegen, The Netherlands; CIBSS-Centre for Integrative Biological Signalling Studies, University of Freiburg, Freiburg, Germany., Lupski JR; Texas Children's Hospital, Houston, TX; Department of Molecular and Human Genetics, Baylor College of Medicine, Houston, TX; Human Genome Sequencing Center, Baylor College of Medicine, Houston, TX., Galehdari H; Department of Biology, Faculty of Science, Shahid Chamran University of Ahvaz, Ahvaz, Iran., Severino M; Neuroradiology Unit, IRCCS Istituto Giannina Gaslini, Genoa, Italy., Houlden H; Department of Neuromuscular Diseases, UCL Queen Square Institute of Neurology, London, United Kingdom., Hübner CA; Institute of Human Genetics, Jena University Hospital, Friedrich Schiller Universität, Am Klinikum 1, Jena, Germany; Center for Rare Diseases, Jena University Hospital, Jena, Germany.

Publikováno v: Genetics in medicine : official journal of the American College of Medical Genetics [Genet Med] 2024 Mar; Vol. 26 (3), pp. 101034. Date of Electronic Publication: 2023 Dec 03.

Mechanism of KMT5B haploinsufficiency in neurodevelopment in humans and mice.

Autor: Sheppard SE; Center for Applied Genomics, Children's Hospital of Philadelphia, Philadelphia, PA, USA.; Unit on Vascular Malformations, Division of Intramural Research, Eunice Kennedy Shriver National Institute of Child Health and Human Development, Bethesda, MD, USA., Bryant L; Center for Applied Genomics, Children's Hospital of Philadelphia, Philadelphia, PA, USA., Wickramasekara RN; Stessman Laboratory, Department of Pharmacology and Neuroscience, Creighton University Medical School, Omaha, NE, USA.; Molecular Diagnostic Laboratory, Boys Town National Research Hospital, Omaha, NE, USA., Vaccaro C; Center for Applied Genomics, Children's Hospital of Philadelphia, Philadelphia, PA, USA., Robertson B; Stessman Laboratory, Department of Pharmacology and Neuroscience, Creighton University Medical School, Omaha, NE, USA., Hallgren J; Stessman Laboratory, Department of Pharmacology and Neuroscience, Creighton University Medical School, Omaha, NE, USA., Hulen J; Stessman Laboratory, Department of Pharmacology and Neuroscience, Creighton University Medical School, Omaha, NE, USA., Watson CJ; Stessman Laboratory, Department of Pharmacology and Neuroscience, Creighton University Medical School, Omaha, NE, USA., Faundes V; Division of Evolution and Genomic Sciences, School of Biological Sciences, Faculty of Biology, Medicine and Health, University of Manchester, Manchester, UK.; Laboratorio de Genética y Enfermedades Metabólicas, Instituto de Nutrición y Tecnología de los Alimentos (INTA), Universidad de Chile, Santiago, Chile., Duffourd Y; Unité Fonctionnelle d'Innovation diagnostique des maladies rares, FHU-TRANSLAD, CHU Dijon Bourgogne, Dijon, France., Lee P; Abramson Family Cancer Research Institute, Perelman School of Medicine, University of Pennsylvania, Philadelphia, PA, USA., Simon MC; Abramson Family Cancer Research Institute, Perelman School of Medicine, University of Pennsylvania, Philadelphia, PA, USA., de la Cruz X; Vall d'Hebron Institute of Research (VHIR), Universitat Autònoma de Barcelona, Barcelona, Spain.; Institució Catalana de Recerca I Estudis Avançats (ICREA), Barcelona, Spain., Padilla N; Vall d'Hebron Institute of Research (VHIR), Universitat Autònoma de Barcelona, Barcelona, Spain., Flores-Mendez M; Raymond G. Perelman Center for Cellular and Molecular Therapeutics, Children's Hospital of Philadelphia, Philadelphia, PA, USA., Akizu N; Raymond G. Perelman Center for Cellular and Molecular Therapeutics, Children's Hospital of Philadelphia, Philadelphia, PA, USA.; Department of Pathology and Laboratory Medicine, University of Pennsylvania, Philadelphia, PA, USA., Smiler J; Center for Applied Genomics, Children's Hospital of Philadelphia, Philadelphia, PA, USA.; 10x Genomics, Pleasanton, CA, USA., Pellegrino Da Silva R; Center for Applied Genomics, Children's Hospital of Philadelphia, Philadelphia, PA, USA., Li D; Center for Applied Genomics, Children's Hospital of Philadelphia, Philadelphia, PA, USA., March M; Center for Applied Genomics, Children's Hospital of Philadelphia, Philadelphia, PA, USA., Diaz-Rosado A; Center for Applied Genomics, Children's Hospital of Philadelphia, Philadelphia, PA, USA., Peixoto de Barcelos I; Center for Applied Genomics, Children's Hospital of Philadelphia, Philadelphia, PA, USA., Choa ZX; Epithelial Epigenetics and Development Laboratory, A*STAR Skin Research Labs, Singapore, Singapore.; Department of Biochemistry, Yong Loo Lin School of Medicine, National University of Singapore, Singapore, Singapore., Lim CY; Epithelial Epigenetics and Development Laboratory, A*STAR Skin Research Labs, Singapore, Singapore.; Department of Biochemistry, Yong Loo Lin School of Medicine, National University of Singapore, Singapore, Singapore., Dubourg C; Laboratoire de Génétique Moléculaire et Génomique, Centre Hospitalier Universitaire de Rennes, Rennes 35033, France., Journel H; Service de Génétique Médicale, Hopital Chubert, Vannes, Bretagne, France., Demurger F; Department of Clinical Genetics, Service de Génétique Clinique, Centre de Référence Maladies Rares Centre Labellisé Anomalies du Développement-Ouest, Centre Hospitalier Universitaire de Rennes, Rennes 35033, France., Mulhern M; Department of Pathology, Columbia University Irving Medical Center, New York, NY, USA.; Department of Neurology, Columbia University Irving Medical Center, New York, NY, USA., Akman C; Department of Neurology, Columbia University Irving Medical Center, New York, NY, USA., Lippa N; Institute for Genomic Medicine, Columbia University Irving Medical Center, New York, NY, USA., Andrews M; Division of Genetics and Genomic Medicine, Department of Pediatrics, Washington University School of Medicine, St. Louis, MO, USA., Baldridge D; Division of Genetics and Genomic Medicine, Department of Pediatrics, Washington University School of Medicine, St. Louis, MO, USA., Constantino J; Department of Psychiatry, Washington University School of Medicine, St. Louis, MO, USA., van Haeringen A; Department of Clinical Genetics, Leiden University Medical Center, Leiden, Netherlands., Snoeck-Streef I; Department of Child Neurology, University Medical Center Utrecht, Utrecht, Netherlands., Chow P; Department of Pediatrics, Division of Craniofacial Medicine, University of Washington, Seattle, WA, USA., Hing A; Department of Pediatrics, Division of Craniofacial Medicine, University of Washington, Seattle, WA, USA., Graham JM Jr; Medical Genetics, Department of Pediatrics, Cedars-Sinai Medical Center, UCLA School of Medicine, Los Angeles, CA, USA., Au M; Medical Genetics, Department of Pediatrics, Cedars-Sinai Medical Center, UCLA School of Medicine, Los Angeles, CA, USA., Faivre L; UFR Des Sciences de Santé, INSERM-Université de Bourgogne UMR1231 GAD 'Génétique des Anomalies du Développement,' FHU-TRANSLAD, Dijon, France.; Centre de Référence Anomalies du Développement et Syndromes Malformatifs, CHU Dijon, Bourgogne, France., Shen W; University of Utah, Salt Lake City, UT, USA.; Mayo Clinic, Rochester, MN, USA., Mao R; University of Utah, Salt Lake City, UT, USA., Palumbos J; University of Utah, Salt Lake City, UT, USA., Viskochil D; University of Utah, Salt Lake City, UT, USA., Gahl W; NIH Undiagnosed Diseases Program, National Human Genome Research Institute, National Institutes of Health, Bethesda, MD, USA., Tifft C; NIH Undiagnosed Diseases Program, National Human Genome Research Institute, National Institutes of Health, Bethesda, MD, USA., Macnamara E; NIH Undiagnosed Diseases Program, National Human Genome Research Institute, National Institutes of Health, Bethesda, MD, USA., Hauser N; Medical Genetics, Inova Fairfax Hospital, Falls Church, VA, USA., Miller R; Medical Genetics, Inova Fairfax Hospital, Falls Church, VA, USA., Maffeo J; Medical Genetics, Inova Fairfax Hospital, Falls Church, VA, USA., Afenjar A; AP-HP, Sorbonne Université, Département de neuropediatrie, Hospital Armand Trousseau, Paris, France., Doummar D; AP-HP, Sorbonne Université, Département de neuropediatrie, Hospital Armand Trousseau, Paris, France., Keren B; Genetic Department, Pitié-Salpêtrière Hospital, AP-HP, Sorbonne Université, Paris, France., Arn P; Department of Pediatrics, Nemours Children's Specialty Care, Jacksonville, FL, USA., Macklin-Mantia S; Department of Clinical Genomics, Mayo Clinic Florida, Jacksonville, FL, USA., Meerschaut I; Center for Medical Genetics, Ghent University Hospital, Ghent, Belgium., Callewaert B; Center for Medical Genetics, Ghent University Hospital, Ghent, Belgium.; Department of Biomolecular Medicine, Ghent University, Ghent, Belgium., Reis A; Institute of Human Genetics, Friedrich-Alexander-Universität Erlangen-Nürnberg, 91054 Erlangen, Germany., Zweier C; Institute of Human Genetics, Friedrich-Alexander-Universität Erlangen-Nürnberg, 91054 Erlangen, Germany.; Department of Human Genetics, Inselspital, Bern University Hospital, University of Bern, 3010 Bern, Switzerland., Brewer C; Clinical Genetics Department, Royal Devon and Exeter Hospital (Heavitree), Exeter EX1 2ED, UK., Saggar A; Clinical Genetics Department, St George's Hospital, St George's Healthcare NHS Trust, London SW17 0QT, UK., Smeland MF; Department of Medical Genetics, University Hospital of North Norway, Tromsø, Norway.; Department of Pediatric Rehabilitation, University Hospital of North Norway, Norway., Kumar A; Northeast Thames Regional Genetics Service, Great Ormond Street Hospital, London WC1N 3JH, UK., Elmslie F; South West Thames Centre for Genomics, St George's University Hospitals NHS Foundation Trust, London SW17 0QT, UK., Deshpande C; Department of Medical Genetics, Guy's Hospital, London SE1 9RT, UK., Nizon M; CHU Nantes, Service de Génétique Médicale, 9 quai Moncousu, 44093 Nantes CEDEX 1, France., Cogne B; CHU Nantes, Service de Génétique Médicale, 9 quai Moncousu, 44093 Nantes CEDEX 1, France.; Nantes Université, CNRS, INSERM, L'institut du thorax, F-44000 Nantes, France., van Ierland Y; Department of Clinical Genetics, Erasmus University Medical Center, P.O. Box 2040, 3000 CA Rotterdam, Netherlands., Wilke M; Department of Clinical Genetics, Erasmus University Medical Center, P.O. Box 2040, 3000 CA Rotterdam, Netherlands., van Slegtenhorst M; Department of Clinical Genetics, Erasmus University Medical Center, P.O. Box 2040, 3000 CA Rotterdam, Netherlands., Koudijs S; Department of Neurology, Erasmus University Medical Center-Sophia Children's Hospital, P.O. Box 2040, 3000 CA Rotterdam, Netherlands., Chen JY; Neurology Department, Massachusetts General Hospital, Boston, MA, USA., Dredge D; University Children's Hospital Salzburg, Paracelsus Medical University (PMU), Salzburg, Austria., Pier D; Neurology Department, Massachusetts General Hospital, Boston, MA, USA., Wortmann S; University Children's Hospital Salzburg, Paracelsus Medical University (PMU), Salzburg, Austria.; Amalia Children's Hospital, RadboudUMC Nijmegen, Nijmegen, Netherlands., Kamsteeg EJ; University Children's Hospital Salzburg, Paracelsus Medical University (PMU), Salzburg, Austria., Koch J; University Children's Hospital Salzburg, Paracelsus Medical University (PMU), Salzburg, Austria., Haynes D; Division of Genetics, Arnold Palmer Hospital for Children-Orlando Health, Orlando, FL, USA., Pollack L; Division of Genetics, Arnold Palmer Hospital for Children-Orlando Health, Orlando, FL, USA., Titheradge H; West Midlands Regional Genetics Service and Birmingham Health Partners, Birmingham Women's and Children's NHS Trust, Birmingham B15 2TG, UK., Ranguin K; Department of Genetics, Reference Centre for Rare Diseases and Developmental Anomalies, Caen Hospital, Caen, France., Denommé-Pichon AS; Unité Fonctionnelle d'Innovation diagnostique des maladies rares, FHU-TRANSLAD, CHU Dijon Bourgogne, Dijon, France.; UFR Des Sciences de Santé, INSERM-Université de Bourgogne UMR1231 GAD 'Génétique des Anomalies du Développement,' FHU-TRANSLAD, Dijon, France., Weber S; Department of Genetics, Reference Centre for Rare Diseases and Developmental Anomalies, Caen Hospital, Caen, France., Pérez de la Fuente R; UDISGEN (Unidad de Dismorfología y Genética) 12 de Octubre University Hospital, Madrid, Spain., Sánchez Del Pozo J; UDISGEN (Unidad de Dismorfología y Genética) 12 de Octubre University Hospital, Madrid, Spain., Lezana Rosales JM; UDISGEN (Unidad de Dismorfología y Genética) 12 de Octubre University Hospital, Madrid, Spain., Joset P; University of Zurich, Institute of Medical Genetics, 8952 Schlieren-Zurich, Switzerland., Steindl K; University of Zurich, Institute of Medical Genetics, 8952 Schlieren-Zurich, Switzerland., Rauch A; University of Zurich, Institute of Medical Genetics, 8952 Schlieren-Zurich, Switzerland.; University of Zurich, University Children's Hospital Zurich, 8032 Zurich, Switzerland.; University of Zurich, URPP Adaptive Brain Circuits in Development and Learning (AdaBD), Zurich, Switzerland.; University of Zurich Research Priority Program (URPP) AdaBD: Adaptive Brain Circuits in Development and Learning, Zurich 8006, Switzerland.; University of Zurich Research Priority Program (URPP) ITINERARE: Innovative Therapies in Rare Diseases, Zurich 8006, Switzerland., Mei D; Paediatric Neurology Unit and Laboratories, Neuroscience Department, Meyer Children's Hospital IRCCS, Florence, Italy., Mari F; Paediatric Neurology Unit and Laboratories, Neuroscience Department, Meyer Children's Hospital IRCCS, Florence, Italy., Guerrini R; Paediatric Neurology Unit and Laboratories, Neuroscience Department, Meyer Children's Hospital IRCCS, Florence, Italy., Lespinasse J; UF de Génétique Chromosomique, Centre Hospitalier de Chambéry, Hôtel-dieu, France., Tran Mau-Them F; Unité Fonctionnelle d'Innovation diagnostique des maladies rares, FHU-TRANSLAD, CHU Dijon Bourgogne, Dijon, France.; UFR Des Sciences de Santé, INSERM-Université de Bourgogne UMR1231 GAD 'Génétique des Anomalies du Développement,' FHU-TRANSLAD, Dijon, France., Philippe C; Unité Fonctionnelle d'Innovation diagnostique des maladies rares, FHU-TRANSLAD, CHU Dijon Bourgogne, Dijon, France.; UFR Des Sciences de Santé, INSERM-Université de Bourgogne UMR1231 GAD 'Génétique des Anomalies du Développement,' FHU-TRANSLAD, Dijon, France., Dauriat B; Service de cytogénétique et génétique médicale, Centre Hospitalier Universitaire de Limoges, France., Raymond L; Service de génétique, Laboratoire Eurofins Biomnis, Lyon, France., Moutton S; Service de génétique, Laboratoire Eurofins Biomnis, Lyon, France., Cueto-González AM; Hospital Vall d'Hebron, Barcelona, Spain.; Department of Clinical and Molecular Genetics, Vall d'Hebron Barcelona Hospital Campus, Passeig Vall d'Hebron 119-129, 08035 Barcelona, Spain., Tan TY; Victorian Clinical Genetics Services, Murdoch Children's Research Institute, Melbourne, VIC, Australia.; Department of Paediatrics, University of Melbourne, Melbourne, VIC, Australia., Mignot C; AP-HP, Sorbonne Université, Département de Génétique, Paris, France., Grotto S; AP-HP, Sorbonne Université, Département de Génétique, Paris, France., Renaldo F; AP-HP, Sorbonne Université, Département de neuropediatrie, Centre de référence neurogénétique, Hôpital Armand Trousseau, Paris, France., Drivas TG; Department of Genetics, Perelman School of Medicine at the University of Pennsylvania, Philadelphia, PA, USA.; Division of Translational Medicine and Human Genetics, Department of Medicine, Perelman School of Medicine at the University of Pennsylvania, Philadelphia, PA, USA., Hennessy L; Division of Translational Medicine and Human Genetics, Department of Medicine, Perelman School of Medicine at the University of Pennsylvania, Philadelphia, PA, USA., Raper A; Division of Translational Medicine and Human Genetics, Department of Medicine, Perelman School of Medicine at the University of Pennsylvania, Philadelphia, PA, USA., Parenti I; Institut für Humangenetik, Universitätsklinikum Essen, Universität Duisburg-Essen, Essen, Germany., Kaiser FJ; Institut für Humangenetik, Universitätsklinikum Essen, Universität Duisburg-Essen, Essen, Germany.; Essener Zentrum für Seltene Erkrankungen (EZSE), Universitätsklinikum Essen, Essen, Germany., Kuechler A; Institut für Humangenetik, Universitätsklinikum Essen, Universität Duisburg-Essen, Essen, Germany., Busk ØL; Department of Medical Genetics, Telemark Hospital Trust, 3710 Skien, Norway., Islam L; West Midlands Regional Genetics Service and Birmingham Health Partners, Birmingham Women's and Children's NHS Trust, Birmingham B15 2TG, UK., Siedlik JA; Department of Exercise Science and Pre-Health Professions, Creighton University, Omaha, NE, USA., Henderson LB; GeneDx, Gaithersburg, MD, USA., Juusola J; GeneDx, Gaithersburg, MD, USA., Person R; GeneDx, Gaithersburg, MD, USA., Schnur RE; GeneDx, Gaithersburg, MD, USA.; Department of Pediatrics, Division of Genetics Cooper Medical School of Rowan University Cooper University Health Care 3, Cooper Plaza, Camden, NJ, USA., Vitobello A; Unité Fonctionnelle d'Innovation diagnostique des maladies rares, FHU-TRANSLAD, CHU Dijon Bourgogne, Dijon, France.; UFR Des Sciences de Santé, INSERM-Université de Bourgogne UMR1231 GAD 'Génétique des Anomalies du Développement,' FHU-TRANSLAD, Dijon, France., Banka S; Division of Evolution and Genomic Sciences, School of Biological Sciences, Faculty of Biology, Medicine and Health, University of Manchester, Manchester, UK., Bhoj EJ; Center for Applied Genomics, Children's Hospital of Philadelphia, Philadelphia, PA, USA., Stessman HAF; Stessman Laboratory, Department of Pharmacology and Neuroscience, Creighton University Medical School, Omaha, NE, USA.

Publikováno v: Science advances [Sci Adv] 2023 Mar 10; Vol. 9 (10), pp. eade1463. Date of Electronic Publication: 2023 Mar 10.