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Delineating the genotypic and phenotypic spectrum of HECW2-related neurodevelopmental disorders.
Acharya, Anushree; Kavus, Haluk; Dunn, Patrick; Nasir, Abdul; Folk, Leandra; Withrow, Kara; Wentzensen, Ingrid M; Ruzhnikov, Maura R Z; Fallot, Camille; Smol, Thomas; Rama, Mélanie; Brown, Kathleen; Whalen, Sandra; Ziegler, Alban; Barth, Magali; Chassevent, Anna; Smith-Hicks, Constance; Afenjar, Alexandra; Courtin, Thomas; Heide, Solveig; Font-Montgomery, Esperanza; Heid, Caleb; Hamm, J Austin; Love, Donald R; Thabet, Farouq; Misra, Vinod K; Cunningham, Mitch; Leal, Suzanne M; Jarvela, Irma; Normand, Elizabeth A; Zou, Fanggeng; Helal, Mayada; Keren, Boris; Torti, Erin; Chung, Wendy K; Schrauwen, Isabelle.
Afiliação
  • Acharya A; Center for Statistical Genetics, Gertrude H. Sergievsky Center and the Department of Neurology, Columbia University Medical Center, New York, New York, USA.
  • Kavus H; Department of Pediatrics, Columbia University, New York, New York, USA.
  • Dunn P; The George Washington University, Washington, District of Columbia, USA.
  • Nasir A; Department of Molecular Science and Technology, Ajou University, Suwon, The Republic of Korea.
  • Folk L; GeneDx, Gaithersburg, Maryland, USA.
  • Withrow K; GeneDx, Gaithersburg, Maryland, USA.
  • Wentzensen IM; GeneDx, Gaithersburg, Maryland, USA.
  • Ruzhnikov MRZ; Neurology and Neurological Sciences, Pediatrics, Division of Medical Genetics, Stanford University and Lucile Packard Children's Hospital, Palo Alto, California, USA.
  • Fallot C; Clinique de Neuropédiatrie, CHU Lille, Lille, France.
  • Smol T; Institut de Génétique, Univ Lille, EA7364 RADEME, CHU Lille, Lille, France.
  • Rama M; Institut de Génétique, CHU Lille, Lille, France.
  • Brown K; Pediatrics-Clinical Genetics and Metabolism, School of Medicine, University of Colorado-Anschutz Medical Campus, Aurora, Colorado, USA.
  • Whalen S; UF de génétique Clinique et Centre de Référence Anomalies du Développement et Syndromes Malformatifs, Assistance Publique-Hôpitaux de Paris (APHP) Sorbonne Université, Hôpital Armand Trousseau, ERN-ITHACA, Paris, France.
  • Ziegler A; Department of Genetics, Angers University Hospital, Angers, France.
  • Barth M; Department of Genetics, Angers University Hospital, Angers, France.
  • Chassevent A; Division of Neurogenetics, Kennedy Krieger Institute, Baltimore, Maryland, USA.
  • Smith-Hicks C; Division of Neurogenetics, Kennedy Krieger Institute, Department of Neurology, Johns Hopkins University School of Medicine, Baltimore, Maryland, USA.
  • Afenjar A; Assistance Publique-Hôpitaux de Paris (APHP) Sorbonne Université, Centre de Référence Malformations et maladies congénitales du cervelet et déficiences intellectuelles de causes rares, département de génétique et embryologie médicale, Hôpital Trousseau, Paris, France.
  • Courtin T; Département de génétique, Hôpital Pitié-Salpêtrière, Assistance Publique-Hôpitaux de Paris (APHP), Paris, France.
  • Heide S; Department of Genetics, Pitié-Salpêtrière Hospital, Referral Center for Intellectual Disabilities of Rare Causes, Assistance Publique-Hôpitaux de Paris (APHP) Sorbonne Université, Paris, France.
  • Font-Montgomery E; University Hospital Medical Genetics Clinic, University of Missouri, Columbia, Missouri, USA.
  • Heid C; University Hospital Medical Genetics Clinic, University of Missouri, Columbia, Missouri, USA.
  • Hamm JA; Pediatric Genetics, East Tennessee Children's Hospital, Knoxville, Tennessee, USA.
  • Love DR; Pathology Genetics, Sidra Medicine, Doha, Qatar.
  • Thabet F; Pediatric Neurology Division, Sidra Medicine, Doha, Qatar.
  • Misra VK; Department of Pediatrics, Division of Genetic, Genomic, and Metabolic Disorders, Children's Hospital of Michigan, Detroit, Michigan, USA.
  • Cunningham M; Discipline of Pediatrics, Central Michigan University, Mount Pleasant, Michigan, USA.
  • Leal SM; Department of Pediatrics, Division of Genetic, Genomic, and Metabolic Disorders, Children's Hospital of Michigan, Detroit, Michigan, USA.
  • Jarvela I; Center for Statistical Genetics, Gertrude H. Sergievsky Center and the Department of Neurology, Columbia University Medical Center, New York, New York, USA.
  • Normand EA; Taub Institute for Alzheimer's Disease and the Aging Brain, Columbia University Medical Center, New York, New York, USA.
  • Zou F; Department of Medical Genetics, University of Helsinki, Helsinki, Finland.
  • Helal M; GeneDx, Gaithersburg, Maryland, USA.
  • Keren B; GeneDx, Gaithersburg, Maryland, USA.
  • Torti E; Department of Pediatrics, Columbia University, New York, New York, USA.
  • Chung WK; Département de génétique, Hôpital Pitié-Salpêtrière, Assistance Publique-Hôpitaux de Paris (APHP), Paris, France.
  • Schrauwen I; GeneDx, Gaithersburg, Maryland, USA.
J Med Genet ; 59(7): 669-677, 2022 07.
Article em En | MEDLINE | ID: mdl-34321324
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Texto completo: 1 Coleções: 01-internacional Base de dados: MEDLINE Assunto principal: Ubiquitina-Proteína Ligases / Transtornos do Neurodesenvolvimento / Deficiência Intelectual Tipo de estudo: Prognostic_studies Limite: Humans Idioma: En Revista: J Med Genet Ano de publicação: 2022 Tipo de documento: Article País de afiliação: Estados Unidos
Texto completo
Imprimir
XML
PubMed Links
Buscar no Google

Texto completo: 1 Coleções: 01-internacional Base de dados: MEDLINE Assunto principal: Ubiquitina-Proteína Ligases / Transtornos do Neurodesenvolvimento / Deficiência Intelectual Tipo de estudo: Prognostic_studies Limite: Humans Idioma: En Revista: J Med Genet Ano de publicação: 2022 Tipo de documento: Article País de afiliação: Estados Unidos