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Genome sequencing and comprehensive rare-variant analysis of 465 families with neurodevelopmental disorders.
Sanchis-Juan, Alba; Megy, Karyn; Stephens, Jonathan; Armirola Ricaurte, Camila; Dewhurst, Eleanor; Low, Kayyi; French, Courtney E; Grozeva, Detelina; Stirrups, Kathleen; Erwood, Marie; McTague, Amy; Penkett, Christopher J; Shamardina, Olga; Tuna, Salih; Daugherty, Louise C; Gleadall, Nicholas; Duarte, Sofia T; Hedrera-Fernández, Antonio; Vogt, Julie; Ambegaonkar, Gautam; Chitre, Manali; Josifova, Dragana; Kurian, Manju A; Parker, Alasdair; Rankin, Julia; Reid, Evan; Wakeling, Emma; Wassmer, Evangeline; Woods, C Geoffrey; Raymond, F Lucy; Carss, Keren J.
Afiliação
  • Sanchis-Juan A; Department of Haematology, University of Cambridge, Cambridge, UK; NIHR BioResource, Cambridge University Hospitals NHS Foundation Trust, Cambridge, UK; Molecular Neurogenetics Unit, Center for Genomic Medicine, Massachusetts General Hospital, Boston, MA 02114, USA; Department of Neurology, Massachu
  • Megy K; Department of Haematology, University of Cambridge, Cambridge, UK; NIHR BioResource, Cambridge University Hospitals NHS Foundation Trust, Cambridge, UK; Centre for Genomics Research, Discovery Sciences, BioPharmaceuticals R&D, AstraZeneca, Cambridge, UK.
  • Stephens J; Department of Haematology, University of Cambridge, Cambridge, UK; NIHR BioResource, Cambridge University Hospitals NHS Foundation Trust, Cambridge, UK.
  • Armirola Ricaurte C; Department of Haematology, University of Cambridge, Cambridge, UK; NIHR BioResource, Cambridge University Hospitals NHS Foundation Trust, Cambridge, UK.
  • Dewhurst E; Department of Haematology, University of Cambridge, Cambridge, UK; NIHR BioResource, Cambridge University Hospitals NHS Foundation Trust, Cambridge, UK.
  • Low K; Department of Haematology, University of Cambridge, Cambridge, UK; NIHR BioResource, Cambridge University Hospitals NHS Foundation Trust, Cambridge, UK.
  • French CE; Clinical Medical School, University of Cambridge, Cambridge, UK.
  • Grozeva D; Department of Medical Genetics, University of Cambridge, Cambridge, UK; Centre for Trials Research, Cardiff University, Cardiff, UK.
  • Stirrups K; Department of Haematology, University of Cambridge, Cambridge, UK; NIHR BioResource, Cambridge University Hospitals NHS Foundation Trust, Cambridge, UK.
  • Erwood M; Department of Haematology, University of Cambridge, Cambridge, UK; NIHR BioResource, Cambridge University Hospitals NHS Foundation Trust, Cambridge, UK.
  • McTague A; Molecular Neurosciences, Zayed Centre for Research into Rare Disease in Children, UCL Great Ormond Street Institute of Child Health, London, UK; Department of Neurology, Great Ormond Street Hospital for Children NHS Foundation Trust, London, UK.
  • Penkett CJ; Department of Haematology, University of Cambridge, Cambridge, UK; NIHR BioResource, Cambridge University Hospitals NHS Foundation Trust, Cambridge, UK.
  • Shamardina O; Department of Haematology, University of Cambridge, Cambridge, UK; NIHR BioResource, Cambridge University Hospitals NHS Foundation Trust, Cambridge, UK.
  • Tuna S; Department of Haematology, University of Cambridge, Cambridge, UK; NIHR BioResource, Cambridge University Hospitals NHS Foundation Trust, Cambridge, UK.
  • Daugherty LC; Department of Haematology, University of Cambridge, Cambridge, UK; NIHR BioResource, Cambridge University Hospitals NHS Foundation Trust, Cambridge, UK.
  • Gleadall N; Department of Haematology, University of Cambridge, Cambridge, UK; NIHR BioResource, Cambridge University Hospitals NHS Foundation Trust, Cambridge, UK.
  • Duarte ST; Hospital Dona Estefânia, Centro Hospitalar de Lisboa Central, Lisbon, Portugal.
  • Hedrera-Fernández A; Pediatric Neurology Department, Hospital Universitario Central de Asturias, Asturias, Spain.
  • Vogt J; West Midlands Regional Genetics Service, Birmingham Women's and Children's Hospital, Birmingham, UK.
  • Ambegaonkar G; Child Development Centre, Cambridge University Hospitals NHS Foundation Trust, Cambridge, UK.
  • Chitre M; Clinical Medical School, University of Cambridge, Cambridge, UK.
  • Josifova D; Guy's and St Thomas' Hospital, London, UK.
  • Kurian MA; Molecular Neurosciences, Zayed Centre for Research into Rare Disease in Children, UCL Great Ormond Street Institute of Child Health, London, UK.
  • Parker A; Clinical Medical School, University of Cambridge, Cambridge, UK; Child Development Centre, Cambridge University Hospitals NHS Foundation Trust, Cambridge, UK.
  • Rankin J; Department of Clinical Genetics, Royal Devon University Healthcare NHS Foundation Trust, Exeter, UK.
  • Reid E; Cambridge Institute for Medical Research and Department of Medical Genetics, University of Cambridge, Cambridge, UK.
  • Wakeling E; North West Thames Regional Genetics Service, Harrow, UK.
  • Wassmer E; Neurology Department, Birmingham Women and Children's Hospital, Birmingham, UK.
  • Woods CG; Clinical Medical School, University of Cambridge, Cambridge, UK; Department of Medical Genetics, University of Cambridge, Cambridge, UK.
  • Raymond FL; Department of Haematology, University of Cambridge, Cambridge, UK; NIHR BioResource, Cambridge University Hospitals NHS Foundation Trust, Cambridge, UK; Department of Medical Genetics, University of Cambridge, Cambridge, UK. Electronic address: flr24@cam.ac.uk.
  • Carss KJ; Department of Haematology, University of Cambridge, Cambridge, UK; NIHR BioResource, Cambridge University Hospitals NHS Foundation Trust, Cambridge, UK; Centre for Genomics Research, Discovery Sciences, BioPharmaceuticals R&D, AstraZeneca, Cambridge, UK. Electronic address: keren.carss@astrazene
Am J Hum Genet ; 110(8): 1343-1355, 2023 08 03.
Article em En | MEDLINE | ID: mdl-37541188
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Texto completo: 1 Base de dados: MEDLINE Assunto principal: Genoma Humano / Transtornos do Neurodesenvolvimento Limite: Humans Idioma: En Ano de publicação: 2023 Tipo de documento: Article
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XML
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Texto completo: 1 Base de dados: MEDLINE Assunto principal: Genoma Humano / Transtornos do Neurodesenvolvimento Limite: Humans Idioma: En Ano de publicação: 2023 Tipo de documento: Article