View in EDS

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

Saved in:
Bibliographic Details
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
FullText Text:
  Availability: 0
Header DbId: mdl
DbLabel: MEDLINE Ultimate
An: 31578471
AccessLevel: 2
PubType: Academic Journal
PubTypeId: academicJournal
PreciseRelevancyScore: 0
IllustrationInfo
Items – Name: Title
  Label: Title
  Group: Ti
  Data: Widening of the genetic and clinical spectrum of Lamb-Shaffer syndrome, a neurodevelopmental disorder due to SOX5 haploinsufficiency.
– Name: Author
  Label: Authors
  Group: Au
  Data: <searchLink fieldCode="AU" term="%22Zawerton+A%22">Zawerton A</searchLink>; Department of Cellular & Molecular Medicine, Cleveland Clinic Lerner Research Institute, Cleveland, OH, USA.<br /><searchLink fieldCode="AU" term="%22Mignot+C%22">Mignot C</searchLink>; 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.<br /><searchLink fieldCode="AU" term="%22Sigafoos+A%22">Sigafoos A</searchLink>; Department of Biochemistry and Molecular Biology, Mayo Clinic, Rochester, MN, USA.<br /><searchLink fieldCode="AU" term="%22Blackburn+PR%22">Blackburn PR</searchLink>; Center for Individualized Medicine, Department of Health Science Research, and Department of Laboratory Medicine and Pathology, Mayo Clinic, Rochester, MN, USA.<br /><searchLink fieldCode="AU" term="%22Haseeb+A%22">Haseeb A</searchLink>; Department of Surgery, Division of Orthopaedic Surgery, The Children's Hospital of Philadelphia, Philadelphia, PA, USA.<br /><searchLink fieldCode="AU" term="%22McWalter+K%22">McWalter K</searchLink>; GeneDx, Gaithersburg, MD, USA.<br /><searchLink fieldCode="AU" term="%22Ichikawa+S%22">Ichikawa S</searchLink>; Department of Clinical Diagnostics, Ambry Genetics, Aliso Viejo, CA, USA.<br /><searchLink fieldCode="AU" term="%22Nava+C%22">Nava C</searchLink>; 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.<br /><searchLink fieldCode="AU" term="%22Keren+B%22">Keren B</searchLink>; 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.<br /><searchLink fieldCode="AU" term="%22Charles+P%22">Charles P</searchLink>; 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.<br /><searchLink fieldCode="AU" term="%22Marey+I%22">Marey I</searchLink>; 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.<br /><searchLink fieldCode="AU" term="%22Tabet+AC%22">Tabet AC</searchLink>; Genetics Department, Robert Debré Hospital, APHP, Paris, France.; Human Genetics and Cognitive Functions, Institut Pasteur, Paris, France.<br /><searchLink fieldCode="AU" term="%22Levy+J%22">Levy J</searchLink>; Genetics Department, Robert Debré Hospital, APHP, Paris, France.<br /><searchLink fieldCode="AU" term="%22Perrin+L%22">Perrin L</searchLink>; Genetics Department, Robert Debré Hospital, APHP, Paris, France.<br /><searchLink fieldCode="AU" term="%22Hartmann+A%22">Hartmann A</searchLink>; 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.<br /><searchLink fieldCode="AU" term="%22Lesca+G%22">Lesca G</searchLink>; 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.<br /><searchLink fieldCode="AU" term="%22Schluth-Bolard+C%22">Schluth-Bolard C</searchLink>; 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.<br /><searchLink fieldCode="AU" term="%22Monin+P%22">Monin P</searchLink>; Service de Génétique, Hospices Civils de Lyon - GHE, Lyon, France.<br /><searchLink fieldCode="AU" term="%22Dupuis-Girod+S%22">Dupuis-Girod S</searchLink>; Service de Génétique, Hospices Civils de Lyon - GHE, Lyon, France.; Centre de référence pour la maladie de Rendu-Osler, Bron, France.<br /><searchLink fieldCode="AU" term="%22Guillen+Sacoto+MJ%22">Guillen Sacoto MJ</searchLink>; GeneDx, Gaithersburg, MD, USA.<br /><searchLink fieldCode="AU" term="%22Schnur+RE%22">Schnur RE</searchLink>; GeneDx, Gaithersburg, MD, USA.<br /><searchLink fieldCode="AU" term="%22Zhu+Z%22">Zhu Z</searchLink>; GeneDx, Gaithersburg, MD, USA.<br /><searchLink fieldCode="AU" term="%22Poisson+A%22">Poisson A</searchLink>; 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.<br /><searchLink fieldCode="AU" term="%22El+Chehadeh+S%22">El Chehadeh S</searchLink>; Département de Génétique Médicale, CHU de Hautepierre, Strasbourg, France.<br /><searchLink fieldCode="AU" term="%22Alembik+Y%22">Alembik Y</searchLink>; Département de Génétique Médicale, CHU de Hautepierre, Strasbourg, France.<br /><searchLink fieldCode="AU" term="%22Bruel+AL%22">Bruel AL</searchLink>; INSERM 1231 LNC, Génétique des Anomalies du Développement, Université de Bourgogne-Franche Comté, Dijon, France.; FHU-TRANSLAD, Université de Bourgogne/CHU Dijon, Dijon, France.<br /><searchLink fieldCode="AU" term="%22Lehalle+D%22">Lehalle D</searchLink>; 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.<br /><searchLink fieldCode="AU" term="%22Nambot+S%22">Nambot S</searchLink>; 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.<br /><searchLink fieldCode="AU" term="%22Moutton+S%22">Moutton S</searchLink>; 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.<br /><searchLink fieldCode="AU" term="%22Odent+S%22">Odent S</searchLink>; CHU de Rennes, service de génétique clinique, Rennes, France.; Univ Rennes, CNRS, IGDR, UMR 6290, Rennes, France.<br /><searchLink fieldCode="AU" term="%22Jaillard+S%22">Jaillard S</searchLink>; Univ Rennes, CHU Rennes, Inserm, EHESP, Irset (Institut de recherche en santé, environnement et travail) - UMR_S 1085, Rennes, France.<br /><searchLink fieldCode="AU" term="%22Dubourg+C%22">Dubourg C</searchLink>; Univ Rennes, CNRS, IGDR, UMR 6290, Rennes, France.; Service de Génétique Moléculaire et Génomique, CHU, Rennes, France.<br /><searchLink fieldCode="AU" term="%22Hilhorst-Hofstee+Y%22">Hilhorst-Hofstee Y</searchLink>; Department of Clinical Genetics, Leiden University Medical Center, Leiden, Netherlands.<br /><searchLink fieldCode="AU" term="%22Barbaro-Dieber+T%22">Barbaro-Dieber T</searchLink>; Cook Childrens Medical Center, Fort Worth, TX, USA.<br /><searchLink fieldCode="AU" term="%22Ortega+L%22">Ortega L</searchLink>; Cook Childrens Medical Center, Fort Worth, TX, USA.<br /><searchLink fieldCode="AU" term="%22Bhoj+EJ%22">Bhoj EJ</searchLink>; Department of Clinical Genetics, Children's Hospital of Philadelphia, Philadelphia, PA, USA.<br /><searchLink fieldCode="AU" term="%22Masser-Frye+D%22">Masser-Frye D</searchLink>; Rady Children's Hospital San Diego, Division of Genetics and Dysmorphology, San Diego, CA, USA.<br /><searchLink fieldCode="AU" term="%22Bird+LM%22">Bird LM</searchLink>; 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.<br /><searchLink fieldCode="AU" term="%22Lindstrom+K%22">Lindstrom K</searchLink>; Division of Genetics and Metabolism, Phoenix Children's Hospital, Phoenix, AZ, USA.<br /><searchLink fieldCode="AU" term="%22Ramsey+KM%22">Ramsey KM</searchLink>; Translational Genomics Research Institute (TGen), Center for Rare Childhood Disorders, Phoenix, AZ, USA.<br /><searchLink fieldCode="AU" term="%22Narayanan+V%22">Narayanan V</searchLink>; Translational Genomics Research Institute (TGen), Center for Rare Childhood Disorders, Phoenix, AZ, USA.<br /><searchLink fieldCode="AU" term="%22Fassi+E%22">Fassi E</searchLink>; Division of Genetics and Genomic Medicine, Department of Pediatrics, Washington University School of Medicine, St. Louis, MO, USA.<br /><searchLink fieldCode="AU" term="%22Willing+M%22">Willing M</searchLink>; Division of Genetics and Genomic Medicine, Department of Pediatrics, Washington University School of Medicine, St. Louis, MO, USA.<br /><searchLink fieldCode="AU" term="%22Cole+T%22">Cole T</searchLink>; West Midlands Regional Genetics Service and Birmingham Health Partners, Birmingham Women's and Children's NHS Foundation Trust, Birmingham, UK.<br /><searchLink fieldCode="AU" term="%22Salter+CG%22">Salter CG</searchLink>; 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.<br /><searchLink fieldCode="AU" term="%22Akilapa+R%22">Akilapa R</searchLink>; North West Thames Regional Genetics Service, Northwick Park Hospital, Harrow, London, UK.<br /><searchLink fieldCode="AU" term="%22Vandersteen+A%22">Vandersteen A</searchLink>; IWK Health Centre, Dalhousie University, Halifax, NS, Canada.<br /><searchLink fieldCode="AU" term="%22Canham+N%22">Canham N</searchLink>; North West Thames Regional Genetics Service, Northwick Park Hospital, London, UK.; Cheshire & Merseyside Regional Genetics Service, Liverpool Women's Hospital, Liverpool, UK.<br /><searchLink fieldCode="AU" term="%22Rump+P%22">Rump P</searchLink>; Department of Genetics, University of Groningen, University Medical Center Groningen, Groningen, Netherlands.<br /><searchLink fieldCode="AU" term="%22Gerkes+EH%22">Gerkes EH</searchLink>; Department of Genetics, University of Groningen, University Medical Center Groningen, Groningen, Netherlands.<br /><searchLink fieldCode="AU" term="%22Klein+Wassink-Ruiter+JS%22">Klein Wassink-Ruiter JS</searchLink>; Department of Genetics, University of Groningen, University Medical Center Groningen, Groningen, Netherlands.<br /><searchLink fieldCode="AU" term="%22Bijlsma+E%22">Bijlsma E</searchLink>; Department of Genetics, University of Groningen, University Medical Center Groningen, Groningen, Netherlands.<br /><searchLink fieldCode="AU" term="%22Hoffer+MJV%22">Hoffer MJV</searchLink>; Department of Clinical Genetics, Leiden University Medical Center, Leiden, Netherlands.<br /><searchLink fieldCode="AU" term="%22Vargas+M%22">Vargas M</searchLink>; Gillette Children's Specialty Healthcare, St. Paul, MN, USA.; Children's Minnesota, Minneapolis, MN, USA.<br /><searchLink fieldCode="AU" term="%22Wojcik+A%22">Wojcik A</searchLink>; Gillette Children's Specialty Healthcare, St. Paul, MN, USA.; Children's Minnesota, Minneapolis, MN, USA.<br /><searchLink fieldCode="AU" term="%22Cherik+F%22">Cherik F</searchLink>; 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.<br /><searchLink fieldCode="AU" term="%22Francannet+C%22">Francannet C</searchLink>; 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.<br /><searchLink fieldCode="AU" term="%22Rosenfeld+JA%22">Rosenfeld JA</searchLink>; Department of Molecular & Human Genetics, Baylor College of Medicine, Houston, TX, USA.<br /><searchLink fieldCode="AU" term="%22Machol+K%22">Machol K</searchLink>; Department of Molecular & Human Genetics, Baylor College of Medicine, Houston, TX, USA.<br /><searchLink fieldCode="AU" term="%22Scott+DA%22">Scott DA</searchLink>; 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.<br /><searchLink fieldCode="AU" term="%22Bacino+CA%22">Bacino CA</searchLink>; Department of Molecular & Human Genetics, Baylor College of Medicine, Houston, TX, USA.<br /><searchLink fieldCode="AU" term="%22Wang+X%22">Wang X</searchLink>; Department of Molecular & Human Genetics, Baylor College of Medicine, Houston, TX, USA.<br /><searchLink fieldCode="AU" term="%22Clark+GD%22">Clark GD</searchLink>; Pediatrics-Neurology, Baylor College of Medicine, Houston, TX, USA.<br /><searchLink fieldCode="AU" term="%22Bertoli+M%22">Bertoli M</searchLink>; Northern Genetics Service-Newcastle upon Tyne NHS Foundation Trust, Newcastle upon Tyne, UK.<br /><searchLink fieldCode="AU" term="%22Zwolinski+S%22">Zwolinski S</searchLink>; Northern Genetics Service-Newcastle upon Tyne NHS Foundation Trust, Newcastle upon Tyne, UK.<br /><searchLink fieldCode="AU" term="%22Thomas+RH%22">Thomas RH</searchLink>; 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.<br /><searchLink fieldCode="AU" term="%22Akay+E%22">Akay E</searchLink>; Department of Neurology, Royal Victoria Infirmary, Newcastle upon Tyne Hospitals NHS Foundation Trust, Newcastle upon Tyne, UK.<br /><searchLink fieldCode="AU" term="%22Chang+RC%22">Chang RC</searchLink>; Division of Metabolic Disorders, Children's Hospital of Orange County (CHOC), Orange, CA, USA.<br /><searchLink fieldCode="AU" term="%22Bressi+R%22">Bressi R</searchLink>; Division of Metabolic Disorders, Children's Hospital of Orange County (CHOC), Orange, CA, USA.<br /><searchLink fieldCode="AU" term="%22Sanchez+Russo+R%22">Sanchez Russo R</searchLink>; Department of Human Genetics, Emory Universit, Atlanta, GA, USA.<br /><searchLink fieldCode="AU" term="%22Srour+M%22">Srour M</searchLink>; Division of Pediatric Neurology, Department of Pediatrics, Montreal Children's Hospital, McGill University Health Center, Montreal, QC, Canada.<br /><searchLink fieldCode="AU" term="%22Russell+L%22">Russell L</searchLink>; Division of Medical Genetics, Department of Specialized Medicine, McGill University, Montreal, QC, Canada.<br /><searchLink fieldCode="AU" term="%22Goyette+AE%22">Goyette AE</searchLink>; Child Development Program, Department of Pediatrics, Montreal Children's Hospital, McGill University Health Center, Montreal, QC, Canada.<br /><searchLink fieldCode="AU" term="%22Dupuis+L%22">Dupuis L</searchLink>; Division of Clinical and Metabolic Genetics, The Hospital for Sick Children and University of Toronto, Toronto, ON, Canada.<br /><searchLink fieldCode="AU" term="%22Mendoza-Londono+R%22">Mendoza-Londono R</searchLink>; Division of Clinical and Metabolic Genetics, The Hospital for Sick Children and University of Toronto, Toronto, ON, Canada.<br /><searchLink fieldCode="AU" term="%22Karimov+C%22">Karimov C</searchLink>; Children's hospital of Los Angeles, Los Angeles, CA, USA.<br /><searchLink fieldCode="AU" term="%22Joseph+M%22">Joseph M</searchLink>; Medical Genetics and Metabolism, Valley Children's Hospital, Madera, CA, USA.<br /><searchLink fieldCode="AU" term="%22Nizon+M%22">Nizon M</searchLink>; CHU Nantes, Service de Génétique Médicale, Nantes, France.; INSERM, CNRS, UNIV Nantes, l'institut du thorax, Nantes, France.<br /><searchLink fieldCode="AU" term="%22Cogné+B%22">Cogné B</searchLink>; CHU Nantes, Service de Génétique Médicale, Nantes, France.; INSERM, CNRS, UNIV Nantes, l'institut du thorax, Nantes, France.<br /><searchLink fieldCode="AU" term="%22Kuechler+A%22">Kuechler A</searchLink>; Institut für Humangenetik, Universitätsklinikum Essen, Universität Duisburg-Essen, Essen, Germany.<br /><searchLink fieldCode="AU" term="%22Piton+A%22">Piton A</searchLink>; Laboratoire de Diagnostic Génétique, Hôpitaux Universitaires de Strasbourg, Strasbourg, France.; IGBMC, CNRS UMR 7104/INSERM U964/Université de Strasbourg, Illkirch, France.<br /><searchLink fieldCode="AU" term="%22Klee+EW%22">Klee EW</searchLink>; 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.<br /><searchLink fieldCode="AU" term="%22Lefebvre+V%22">Lefebvre V</searchLink>; Department of Surgery, Division of Orthopaedic Surgery, The Children's Hospital of Philadelphia, Philadelphia, PA, USA. lefebvrev1@email.chop.edu.<br /><searchLink fieldCode="AU" term="%22Clark+KJ%22">Clark KJ</searchLink>; Department of Biochemistry and Molecular Biology, Mayo Clinic, Rochester, MN, USA.<br /><searchLink fieldCode="AU" term="%22Depienne+C%22">Depienne C</searchLink>; 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.
– Name: AuthorCorporate
  Label: Corporate Authors
  Group: Au
  Data: <searchLink fieldCode="CA" term="%22Deciphering+Developmental+Disorder+Study%22">Deciphering Developmental Disorder Study</searchLink>
– Name: TitleSource
  Label: Source
  Group: Src
  Data: <searchLink fieldCode="JN" term="%229815831%22">Genetics in medicine : official journal of the American College of Medical Genetics</searchLink> [Genet Med] 2020 Mar; Vol. 22 (3), pp. 524-537. <i>Date of Electronic Publication: </i>2019 Oct 03.
– Name: TypePub
  Label: Publication Type
  Group: TypPub
  Data: Journal Article; Research Support, Non-U.S. Gov't
– Name: TitleSource
  Label: Journal Info
  Group: Src
  Data: <i>Publisher: </i><searchLink fieldCode="PB" term="%22Elsevier%22">Elsevier </searchLink><i>Country of Publication: </i>United States <i>NLM ID: </i>9815831 <i>Publication Model: </i>Print-Electronic <i>Cited Medium: </i>Internet <i>ISSN: </i>1530-0366 (Electronic) <i>Linking ISSN: </i><searchLink fieldCode="IS" term="%2210983600%22">10983600 </searchLink><i>NLM ISO Abbreviation: </i>Genet Med <i>Subsets: </i>MEDLINE
PLink https://search.ebscohost.com/login.aspx?direct=true&site=eds-live&db=mdl&AN=31578471
RecordInfo BibRecord:
  BibEntity:
    Identifiers:
      – Type: doi
        Value: 10.1038/s41436-019-0657-0
    Languages:
      – Code: eng
        Text: English
    PhysicalDescription:
      Pagination:
        StartPage: 524
    Titles:
      – TitleFull: Widening of the genetic and clinical spectrum of Lamb-Shaffer syndrome, a neurodevelopmental disorder due to SOX5 haploinsufficiency.
        Type: main
  BibRelationships:
    HasContributorRelationships:
      – PersonEntity:
          Name:
            NameFull: Zawerton A
      – PersonEntity:
          Name:
            NameFull: Mignot C
      – PersonEntity:
          Name:
            NameFull: Sigafoos A
      – PersonEntity:
          Name:
            NameFull: Blackburn PR
      – PersonEntity:
          Name:
            NameFull: Haseeb A
      – PersonEntity:
          Name:
            NameFull: McWalter K
      – PersonEntity:
          Name:
            NameFull: Ichikawa S
      – PersonEntity:
          Name:
            NameFull: Nava C
      – PersonEntity:
          Name:
            NameFull: Keren B
      – PersonEntity:
          Name:
            NameFull: Charles P
      – PersonEntity:
          Name:
            NameFull: Marey I
      – PersonEntity:
          Name:
            NameFull: Tabet AC
      – PersonEntity:
          Name:
            NameFull: Levy J
      – PersonEntity:
          Name:
            NameFull: Perrin L
      – PersonEntity:
          Name:
            NameFull: Hartmann A
      – PersonEntity:
          Name:
            NameFull: Lesca G
      – PersonEntity:
          Name:
            NameFull: Schluth-Bolard C
      – PersonEntity:
          Name:
            NameFull: Monin P
      – PersonEntity:
          Name:
            NameFull: Dupuis-Girod S
      – PersonEntity:
          Name:
            NameFull: Guillen Sacoto MJ
      – PersonEntity:
          Name:
            NameFull: Schnur RE
      – PersonEntity:
          Name:
            NameFull: Zhu Z
      – PersonEntity:
          Name:
            NameFull: Poisson A
      – PersonEntity:
          Name:
            NameFull: El Chehadeh S
      – PersonEntity:
          Name:
            NameFull: Alembik Y
      – PersonEntity:
          Name:
            NameFull: Bruel AL
      – PersonEntity:
          Name:
            NameFull: Lehalle D
      – PersonEntity:
          Name:
            NameFull: Nambot S
      – PersonEntity:
          Name:
            NameFull: Moutton S
      – PersonEntity:
          Name:
            NameFull: Odent S
      – PersonEntity:
          Name:
            NameFull: Jaillard S
      – PersonEntity:
          Name:
            NameFull: Dubourg C
      – PersonEntity:
          Name:
            NameFull: Hilhorst-Hofstee Y
      – PersonEntity:
          Name:
            NameFull: Barbaro-Dieber T
      – PersonEntity:
          Name:
            NameFull: Ortega L
      – PersonEntity:
          Name:
            NameFull: Bhoj EJ
      – PersonEntity:
          Name:
            NameFull: Masser-Frye D
      – PersonEntity:
          Name:
            NameFull: Bird LM
      – PersonEntity:
          Name:
            NameFull: Lindstrom K
      – PersonEntity:
          Name:
            NameFull: Ramsey KM
      – PersonEntity:
          Name:
            NameFull: Narayanan V
      – PersonEntity:
          Name:
            NameFull: Fassi E
      – PersonEntity:
          Name:
            NameFull: Willing M
      – PersonEntity:
          Name:
            NameFull: Cole T
      – PersonEntity:
          Name:
            NameFull: Salter CG
      – PersonEntity:
          Name:
            NameFull: Akilapa R
      – PersonEntity:
          Name:
            NameFull: Vandersteen A
      – PersonEntity:
          Name:
            NameFull: Canham N
      – PersonEntity:
          Name:
            NameFull: Rump P
      – PersonEntity:
          Name:
            NameFull: Gerkes EH
      – PersonEntity:
          Name:
            NameFull: Klein Wassink-Ruiter JS
      – PersonEntity:
          Name:
            NameFull: Bijlsma E
      – PersonEntity:
          Name:
            NameFull: Hoffer MJV
      – PersonEntity:
          Name:
            NameFull: Vargas M
      – PersonEntity:
          Name:
            NameFull: Wojcik A
      – PersonEntity:
          Name:
            NameFull: Cherik F
      – PersonEntity:
          Name:
            NameFull: Francannet C
      – PersonEntity:
          Name:
            NameFull: Rosenfeld JA
      – PersonEntity:
          Name:
            NameFull: Machol K
      – PersonEntity:
          Name:
            NameFull: Scott DA
      – PersonEntity:
          Name:
            NameFull: Bacino CA
      – PersonEntity:
          Name:
            NameFull: Wang X
      – PersonEntity:
          Name:
            NameFull: Clark GD
      – PersonEntity:
          Name:
            NameFull: Bertoli M
      – PersonEntity:
          Name:
            NameFull: Zwolinski S
      – PersonEntity:
          Name:
            NameFull: Thomas RH
      – PersonEntity:
          Name:
            NameFull: Akay E
      – PersonEntity:
          Name:
            NameFull: Chang RC
      – PersonEntity:
          Name:
            NameFull: Bressi R
      – PersonEntity:
          Name:
            NameFull: Sanchez Russo R
      – PersonEntity:
          Name:
            NameFull: Srour M
      – PersonEntity:
          Name:
            NameFull: Russell L
      – PersonEntity:
          Name:
            NameFull: Goyette AE
      – PersonEntity:
          Name:
            NameFull: Dupuis L
      – PersonEntity:
          Name:
            NameFull: Mendoza-Londono R
      – PersonEntity:
          Name:
            NameFull: Karimov C
      – PersonEntity:
          Name:
            NameFull: Joseph M
      – PersonEntity:
          Name:
            NameFull: Nizon M
      – PersonEntity:
          Name:
            NameFull: Cogné B
      – PersonEntity:
          Name:
            NameFull: Kuechler A
      – PersonEntity:
          Name:
            NameFull: Piton A
      – PersonEntity:
          Name:
            NameFull: Klee EW
      – PersonEntity:
          Name:
            NameFull: Lefebvre V
      – PersonEntity:
          Name:
            NameFull: Clark KJ
      – PersonEntity:
          Name:
            NameFull: Depienne C
    IsPartOfRelationships:
      – BibEntity:
          Dates:
            – D: 01
              M: 03
              Text: 2020 Mar
              Type: published
              Y: 2020
          Identifiers:
            – Type: issn-electronic
              Value: 1530-0366
          Numbering:
            – Type: volume
              Value: 22
            – Type: issue
              Value: 3
          Titles:
            – TitleFull: Genetics in medicine : official journal of the American College of Medical Genetics
              Type: main
ResultId 1