Widening of the genetic and clinical spectrum of Lamb-Shaffer syndrome, a neurodevelopmental disorder due to SOX5 haploinsufficiency.

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Title: Widening of the genetic and clinical spectrum of Lamb-Shaffer syndrome, a neurodevelopmental disorder due to SOX5 haploinsufficiency.
Authors: Zawerton A; Department of Cellular & Molecular Medicine, Cleveland Clinic Lerner Research Institute, Cleveland, OH, USA., Mignot C; INSERM U 1127, CNRS UMR 7225, Sorbonne Universités, UPMC Univ Paris 06 UMR S 1127, Institut du Cerveau et de la Moelle épinière, ICM, Paris, France.; AP-HP, Hôpital Pitié-Salpêtrière, Département de Génétique et de Cytogénétique; Centre de Référence Déficiences Intellectuelles de Causes Rares, GRC UPMC « Déficience Intellectuelle et Autisme », Paris, France., Sigafoos A; Department of Biochemistry and Molecular Biology, Mayo Clinic, Rochester, MN, USA., Blackburn PR; Center for Individualized Medicine, Department of Health Science Research, and Department of Laboratory Medicine and Pathology, Mayo Clinic, Rochester, MN, USA., Haseeb A; Department of Surgery, Division of Orthopaedic Surgery, The Children's Hospital of Philadelphia, Philadelphia, PA, USA., McWalter K; GeneDx, Gaithersburg, MD, USA., Ichikawa S; Department of Clinical Diagnostics, Ambry Genetics, Aliso Viejo, CA, USA., Nava C; INSERM U 1127, CNRS UMR 7225, Sorbonne Universités, UPMC Univ Paris 06 UMR S 1127, Institut du Cerveau et de la Moelle épinière, ICM, Paris, France.; AP-HP, Hôpital Pitié-Salpêtrière, Département de Génétique et de Cytogénétique; Centre de Référence Déficiences Intellectuelles de Causes Rares, GRC UPMC « Déficience Intellectuelle et Autisme », Paris, France., Keren B; INSERM U 1127, CNRS UMR 7225, Sorbonne Universités, UPMC Univ Paris 06 UMR S 1127, Institut du Cerveau et de la Moelle épinière, ICM, Paris, France.; AP-HP, Hôpital Pitié-Salpêtrière, Département de Génétique et de Cytogénétique; Centre de Référence Déficiences Intellectuelles de Causes Rares, GRC UPMC « Déficience Intellectuelle et Autisme », Paris, France., Charles P; AP-HP, Hôpital Pitié-Salpêtrière, Département de Génétique et de Cytogénétique; Centre de Référence Déficiences Intellectuelles de Causes Rares, GRC UPMC « Déficience Intellectuelle et Autisme », Paris, France., Marey I; AP-HP, Hôpital Pitié-Salpêtrière, Département de Génétique et de Cytogénétique; Centre de Référence Déficiences Intellectuelles de Causes Rares, GRC UPMC « Déficience Intellectuelle et Autisme », Paris, France., Tabet AC; Genetics Department, Robert Debré Hospital, APHP, Paris, France.; Human Genetics and Cognitive Functions, Institut Pasteur, Paris, France., Levy J; Genetics Department, Robert Debré Hospital, APHP, Paris, France., Perrin L; Genetics Department, Robert Debré Hospital, APHP, Paris, France., Hartmann A; INSERM U 1127, CNRS UMR 7225, Sorbonne Universités, UPMC Univ Paris 06 UMR S 1127, Institut du Cerveau et de la Moelle épinière, ICM, Paris, France.; APHP, Department of Neurology, Hôpital de la Pitié-Salpêtrière, Paris, France., Lesca G; Service de Génétique, Hospices Civils de Lyon - GHE, Lyon, France.; CNRS UMR 5292, INSERM U1028, CNRL, and Université Claude Bernard Lyon 1, GHE, Lyon, France., Schluth-Bolard C; Service de Génétique, Hospices Civils de Lyon - GHE, Lyon, France.; CNRS UMR 5292, INSERM U1028, CNRL, and Université Claude Bernard Lyon 1, GHE, Lyon, France., Monin P; Service de Génétique, Hospices Civils de Lyon - GHE, Lyon, France., Dupuis-Girod S; Service de Génétique, Hospices Civils de Lyon - GHE, Lyon, France.; Centre de référence pour la maladie de Rendu-Osler, Bron, France., Guillen Sacoto MJ; GeneDx, Gaithersburg, MD, USA., Schnur RE; GeneDx, Gaithersburg, MD, USA., Zhu Z; GeneDx, Gaithersburg, MD, USA., Poisson A; GénoPsy, Reference Center for Diagnosis and Management of Genetic Psychiatric Disorders, Centre Hospitalier le Vinatier and EDR-Psy Team (CNRS & Lyon 1 Claude Bernard University), Lyon, France., El Chehadeh S; Département de Génétique Médicale, CHU de Hautepierre, Strasbourg, France., Alembik Y; Département de Génétique Médicale, CHU de Hautepierre, Strasbourg, France., Bruel AL; INSERM 1231 LNC, Génétique des Anomalies du Développement, Université de Bourgogne-Franche Comté, Dijon, France.; FHU-TRANSLAD, Université de Bourgogne/CHU Dijon, Dijon, France., Lehalle D; INSERM 1231 LNC, Génétique des Anomalies du Développement, Université de Bourgogne-Franche Comté, Dijon, France.; Centre de Génétique et Centre de Référence Maladies Rares «Anomalies du Développement de l'Interrégion Est», Hôpital d'Enfants, CHU Dijon Bourgogne, Dijon, France., Nambot S; INSERM 1231 LNC, Génétique des Anomalies du Développement, Université de Bourgogne-Franche Comté, Dijon, France.; Centre de Génétique et Centre de Référence Maladies Rares «Anomalies du Développement de l'Interrégion Est», Hôpital d'Enfants, CHU Dijon Bourgogne, Dijon, France., Moutton S; INSERM 1231 LNC, Génétique des Anomalies du Développement, Université de Bourgogne-Franche Comté, Dijon, France.; Centre de Génétique et Centre de Référence Maladies Rares «Anomalies du Développement de l'Interrégion Est», Hôpital d'Enfants, CHU Dijon Bourgogne, Dijon, France., Odent S; CHU de Rennes, service de génétique clinique, Rennes, France.; Univ Rennes, CNRS, IGDR, UMR 6290, Rennes, France., Jaillard S; Univ Rennes, CHU Rennes, Inserm, EHESP, Irset (Institut de recherche en santé, environnement et travail) - UMR_S 1085, Rennes, France., Dubourg C; Univ Rennes, CNRS, IGDR, UMR 6290, Rennes, France.; Service de Génétique Moléculaire et Génomique, CHU, Rennes, France., Hilhorst-Hofstee Y; Department of Clinical Genetics, Leiden University Medical Center, Leiden, Netherlands., Barbaro-Dieber T; Cook Childrens Medical Center, Fort Worth, TX, USA., Ortega L; Cook Childrens Medical Center, Fort Worth, TX, USA., Bhoj EJ; Department of Clinical Genetics, Children's Hospital of Philadelphia, Philadelphia, PA, USA., Masser-Frye D; Rady Children's Hospital San Diego, Division of Genetics and Dysmorphology, San Diego, CA, USA., Bird LM; Rady Children's Hospital San Diego, Division of Genetics and Dysmorphology, San Diego, CA, USA.; Department of Pediatrics, University of California-San Diego, San Diego, CA, USA., Lindstrom K; Division of Genetics and Metabolism, Phoenix Children's Hospital, Phoenix, AZ, USA., Ramsey KM; Translational Genomics Research Institute (TGen), Center for Rare Childhood Disorders, Phoenix, AZ, USA., Narayanan V; Translational Genomics Research Institute (TGen), Center for Rare Childhood Disorders, Phoenix, AZ, USA., Fassi E; Division of Genetics and Genomic Medicine, Department of Pediatrics, Washington University School of Medicine, St. Louis, MO, USA., Willing M; Division of Genetics and Genomic Medicine, Department of Pediatrics, Washington University School of Medicine, St. Louis, MO, USA., Cole T; West Midlands Regional Genetics Service and Birmingham Health Partners, Birmingham Women's and Children's NHS Foundation Trust, Birmingham, UK., Salter CG; West Midlands Regional Genetics Service and Birmingham Health Partners, Birmingham Women's and Children's NHS Foundation Trust, Birmingham, UK.; RILD Wellcome Wolfson Centre, Royal Devon and Exeter NHS Foundation Trust, Exeter, UK., Akilapa R; North West Thames Regional Genetics Service, Northwick Park Hospital, Harrow, London, UK., Vandersteen A; IWK Health Centre, Dalhousie University, Halifax, NS, Canada., Canham N; North West Thames Regional Genetics Service, Northwick Park Hospital, London, UK.; Cheshire & Merseyside Regional Genetics Service, Liverpool Women's Hospital, Liverpool, UK., Rump P; Department of Genetics, University of Groningen, University Medical Center Groningen, Groningen, Netherlands., Gerkes EH; Department of Genetics, University of Groningen, University Medical Center Groningen, Groningen, Netherlands., Klein Wassink-Ruiter JS; Department of Genetics, University of Groningen, University Medical Center Groningen, Groningen, Netherlands., Bijlsma E; Department of Genetics, University of Groningen, University Medical Center Groningen, Groningen, Netherlands., Hoffer MJV; Department of Clinical Genetics, Leiden University Medical Center, Leiden, Netherlands., Vargas M; Gillette Children's Specialty Healthcare, St. Paul, MN, USA.; Children's Minnesota, Minneapolis, MN, USA., Wojcik A; Gillette Children's Specialty Healthcare, St. Paul, MN, USA.; Children's Minnesota, Minneapolis, MN, USA., Cherik F; Service de génétique clinique, Centre de Référence Maladies Rares «Anomalies du Développement et syndromes malformatifs du Sud-Est', CHU de Clermont-Ferrand, Clermont-Ferrand, France., Francannet C; Service de génétique clinique, Centre de Référence Maladies Rares «Anomalies du Développement et syndromes malformatifs du Sud-Est', CHU de Clermont-Ferrand, Clermont-Ferrand, France., Rosenfeld JA; Department of Molecular & Human Genetics, Baylor College of Medicine, Houston, TX, USA., Machol K; Department of Molecular & Human Genetics, Baylor College of Medicine, Houston, TX, USA., Scott DA; Department of Molecular & Human Genetics, Baylor College of Medicine, Houston, TX, USA.; Department of Molecular Physiology and Biophysics, Baylor College of Medicine, Houston, TX, USA., Bacino CA; Department of Molecular & Human Genetics, Baylor College of Medicine, Houston, TX, USA., Wang X; Department of Molecular & Human Genetics, Baylor College of Medicine, Houston, TX, USA., Clark GD; Pediatrics-Neurology, Baylor College of Medicine, Houston, TX, USA., Bertoli M; Northern Genetics Service-Newcastle upon Tyne NHS Foundation Trust, Newcastle upon Tyne, UK., Zwolinski S; Northern Genetics Service-Newcastle upon Tyne NHS Foundation Trust, Newcastle upon Tyne, UK., Thomas RH; Institute of Neuroscience, Newcastle University, Framlington Place, Newcastle upon Tyne, UK.; Department of Neurology, Royal Victoria Infirmary, Newcastle upon Tyne Hospitals NHS Foundation Trust, Newcastle upon Tyne, UK., Akay E; Department of Neurology, Royal Victoria Infirmary, Newcastle upon Tyne Hospitals NHS Foundation Trust, Newcastle upon Tyne, UK., Chang RC; Division of Metabolic Disorders, Children's Hospital of Orange County (CHOC), Orange, CA, USA., Bressi R; Division of Metabolic Disorders, Children's Hospital of Orange County (CHOC), Orange, CA, USA., Sanchez Russo R; Department of Human Genetics, Emory Universit, Atlanta, GA, USA., Srour M; Division of Pediatric Neurology, Department of Pediatrics, Montreal Children's Hospital, McGill University Health Center, Montreal, QC, Canada., Russell L; Division of Medical Genetics, Department of Specialized Medicine, McGill University, Montreal, QC, Canada., Goyette AE; Child Development Program, Department of Pediatrics, Montreal Children's Hospital, McGill University Health Center, Montreal, QC, Canada., Dupuis L; Division of Clinical and Metabolic Genetics, The Hospital for Sick Children and University of Toronto, Toronto, ON, Canada., Mendoza-Londono R; Division of Clinical and Metabolic Genetics, The Hospital for Sick Children and University of Toronto, Toronto, ON, Canada., Karimov C; Children's hospital of Los Angeles, Los Angeles, CA, USA., Joseph M; Medical Genetics and Metabolism, Valley Children's Hospital, Madera, CA, USA., Nizon M; CHU Nantes, Service de Génétique Médicale, Nantes, France.; INSERM, CNRS, UNIV Nantes, l'institut du thorax, Nantes, France., Cogné B; CHU Nantes, Service de Génétique Médicale, Nantes, France.; INSERM, CNRS, UNIV Nantes, l'institut du thorax, Nantes, France., Kuechler A; Institut für Humangenetik, Universitätsklinikum Essen, Universität Duisburg-Essen, Essen, Germany., Piton A; Laboratoire de Diagnostic Génétique, Hôpitaux Universitaires de Strasbourg, Strasbourg, France.; IGBMC, CNRS UMR 7104/INSERM U964/Université de Strasbourg, Illkirch, France., Klee EW; Center for Individualized Medicine, Department of Health Science Research, and Department of Laboratory Medicine and Pathology, Mayo Clinic, Rochester, MN, USA.; Department of Clinical Genomics, Mayo Clinic, Rochester, MN, USA., Lefebvre V; Department of Surgery, Division of Orthopaedic Surgery, The Children's Hospital of Philadelphia, Philadelphia, PA, USA. lefebvrev1@email.chop.edu., Clark KJ; Department of Biochemistry and Molecular Biology, Mayo Clinic, Rochester, MN, USA., Depienne C; INSERM U 1127, CNRS UMR 7225, Sorbonne Universités, UPMC Univ Paris 06 UMR S 1127, Institut du Cerveau et de la Moelle épinière, ICM, Paris, France. christel.depienne@uni-due.de.; Institut für Humangenetik, Universitätsklinikum Essen, Universität Duisburg-Essen, Essen, Germany. christel.depienne@uni-due.de.; IGBMC, CNRS UMR 7104/INSERM U964/Université de Strasbourg, Illkirch, France. christel.depienne@uni-due.de.
Corporate Authors: Deciphering Developmental Disorder Study
Source: Genetics in medicine : official journal of the American College of Medical Genetics [Genet Med] 2020 Mar; Vol. 22 (3), pp. 524-537. Date of Electronic Publication: 2019 Oct 03.
Publication Type: Journal Article; Research Support, Non-U.S. Gov't
Journal Info: Publisher: Elsevier Country of Publication: United States NLM ID: 9815831 Publication Model: Print-Electronic Cited Medium: Internet ISSN: 1530-0366 (Electronic) Linking ISSN: 10983600 NLM ISO Abbreviation: Genet Med Subsets: MEDLINE
Database: MEDLINE Ultimate
Description
ISSN:1530-0366
DOI:10.1038/s41436-019-0657-0