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Genome sequencing and comprehensive rare-variant analysis of 465 families with neurodevelopmental disorders.

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Title: Genome sequencing and comprehensive rare-variant analysis of 465 families with neurodevelopmental disorders.
Authors: 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, Massachusetts General Hospital and Harvard Medical School, Boston, MA 02114, USA; Program in Medical and Population Genetics, Broad Institute of MIT and Harvard, Cambridge, MA 02142, USA., 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@astrazeneca.com.
Corporate Authors: NIHR BioResource
Source: American journal of human genetics [Am J Hum Genet] 2023 Aug 03; Vol. 110 (8), pp. 1343-1355.
Publication Type: Journal Article; Research Support, Non-U.S. Gov't
Journal Info: Publisher: Cell Press Country of Publication: United States NLM ID: 0370475 Publication Model: Print Cited Medium: Internet ISSN: 1537-6605 (Electronic) Linking ISSN: 00029297 NLM ISO Abbreviation: Am J Hum Genet Subsets: MEDLINE
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  Data: Genome sequencing and comprehensive rare-variant analysis of 465 families with neurodevelopmental disorders.
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  Data: <searchLink fieldCode="AU" term="%22Sanchis-Juan+A%22">Sanchis-Juan A</searchLink>; 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, Massachusetts General Hospital and Harvard Medical School, Boston, MA 02114, USA; Program in Medical and Population Genetics, Broad Institute of MIT and Harvard, Cambridge, MA 02142, USA.<br /><searchLink fieldCode="AU" term="%22Megy+K%22">Megy K</searchLink>; 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.<br /><searchLink fieldCode="AU" term="%22Stephens+J%22">Stephens J</searchLink>; Department of Haematology, University of Cambridge, Cambridge, UK; NIHR BioResource, Cambridge University Hospitals NHS Foundation Trust, Cambridge, UK.<br /><searchLink fieldCode="AU" term="%22Armirola+Ricaurte+C%22">Armirola Ricaurte C</searchLink>; Department of Haematology, University of Cambridge, Cambridge, UK; NIHR BioResource, Cambridge University Hospitals NHS Foundation Trust, Cambridge, UK.<br /><searchLink fieldCode="AU" term="%22Dewhurst+E%22">Dewhurst E</searchLink>; Department of Haematology, University of Cambridge, Cambridge, UK; NIHR BioResource, Cambridge University Hospitals NHS Foundation Trust, Cambridge, UK.<br /><searchLink fieldCode="AU" term="%22Low+K%22">Low K</searchLink>; Department of Haematology, University of Cambridge, Cambridge, UK; NIHR BioResource, Cambridge University Hospitals NHS Foundation Trust, Cambridge, UK.<br /><searchLink fieldCode="AU" term="%22French+CE%22">French CE</searchLink>; Clinical Medical School, University of Cambridge, Cambridge, UK.<br /><searchLink fieldCode="AU" term="%22Grozeva+D%22">Grozeva D</searchLink>; Department of Medical Genetics, University of Cambridge, Cambridge, UK; Centre for Trials Research, Cardiff University, Cardiff, UK.<br /><searchLink fieldCode="AU" term="%22Stirrups+K%22">Stirrups K</searchLink>; Department of Haematology, University of Cambridge, Cambridge, UK; NIHR BioResource, Cambridge University Hospitals NHS Foundation Trust, Cambridge, UK.<br /><searchLink fieldCode="AU" term="%22Erwood+M%22">Erwood M</searchLink>; Department of Haematology, University of Cambridge, Cambridge, UK; NIHR BioResource, Cambridge University Hospitals NHS Foundation Trust, Cambridge, UK.<br /><searchLink fieldCode="AU" term="%22McTague+A%22">McTague A</searchLink>; 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.<br /><searchLink fieldCode="AU" term="%22Penkett+CJ%22">Penkett CJ</searchLink>; Department of Haematology, University of Cambridge, Cambridge, UK; NIHR BioResource, Cambridge University Hospitals NHS Foundation Trust, Cambridge, UK.<br /><searchLink fieldCode="AU" term="%22Shamardina+O%22">Shamardina O</searchLink>; Department of Haematology, University of Cambridge, Cambridge, UK; NIHR BioResource, Cambridge University Hospitals NHS Foundation Trust, Cambridge, UK.<br /><searchLink fieldCode="AU" term="%22Tuna+S%22">Tuna S</searchLink>; Department of Haematology, University of Cambridge, Cambridge, UK; NIHR BioResource, Cambridge University Hospitals NHS Foundation Trust, Cambridge, UK.<br /><searchLink fieldCode="AU" term="%22Daugherty+LC%22">Daugherty LC</searchLink>; Department of Haematology, University of Cambridge, Cambridge, UK; NIHR BioResource, Cambridge University Hospitals NHS Foundation Trust, Cambridge, UK.<br /><searchLink fieldCode="AU" term="%22Gleadall+N%22">Gleadall N</searchLink>; Department of Haematology, University of Cambridge, Cambridge, UK; NIHR BioResource, Cambridge University Hospitals NHS Foundation Trust, Cambridge, UK.<br /><searchLink fieldCode="AU" term="%22Duarte+ST%22">Duarte ST</searchLink>; Hospital Dona Estefânia, Centro Hospitalar de Lisboa Central, Lisbon, Portugal.<br /><searchLink fieldCode="AU" term="%22Hedrera-Fernández+A%22">Hedrera-Fernández A</searchLink>; Pediatric Neurology Department, Hospital Universitario Central de Asturias, Asturias, Spain.<br /><searchLink fieldCode="AU" term="%22Vogt+J%22">Vogt J</searchLink>; West Midlands Regional Genetics Service, Birmingham Women's and Children's Hospital, Birmingham, UK.<br /><searchLink fieldCode="AU" term="%22Ambegaonkar+G%22">Ambegaonkar G</searchLink>; Child Development Centre, Cambridge University Hospitals NHS Foundation Trust, Cambridge, UK.<br /><searchLink fieldCode="AU" term="%22Chitre+M%22">Chitre M</searchLink>; Clinical Medical School, University of Cambridge, Cambridge, UK.<br /><searchLink fieldCode="AU" term="%22Josifova+D%22">Josifova D</searchLink>; Guy's and St Thomas' Hospital, London, UK.<br /><searchLink fieldCode="AU" term="%22Kurian+MA%22">Kurian MA</searchLink>; Molecular Neurosciences, Zayed Centre for Research into Rare Disease in Children, UCL Great Ormond Street Institute of Child Health, London, UK.<br /><searchLink fieldCode="AU" term="%22Parker+A%22">Parker A</searchLink>; Clinical Medical School, University of Cambridge, Cambridge, UK; Child Development Centre, Cambridge University Hospitals NHS Foundation Trust, Cambridge, UK.<br /><searchLink fieldCode="AU" term="%22Rankin+J%22">Rankin J</searchLink>; Department of Clinical Genetics, Royal Devon University Healthcare NHS Foundation Trust, Exeter, UK.<br /><searchLink fieldCode="AU" term="%22Reid+E%22">Reid E</searchLink>; Cambridge Institute for Medical Research and Department of Medical Genetics, University of Cambridge, Cambridge, UK.<br /><searchLink fieldCode="AU" term="%22Wakeling+E%22">Wakeling E</searchLink>; North West Thames Regional Genetics Service, Harrow, UK.<br /><searchLink fieldCode="AU" term="%22Wassmer+E%22">Wassmer E</searchLink>; Neurology Department, Birmingham Women and Children's Hospital, Birmingham, UK.<br /><searchLink fieldCode="AU" term="%22Woods+CG%22">Woods CG</searchLink>; Clinical Medical School, University of Cambridge, Cambridge, UK; Department of Medical Genetics, University of Cambridge, Cambridge, UK.<br /><searchLink fieldCode="AU" term="%22Raymond+FL%22">Raymond FL</searchLink>; 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.<br /><searchLink fieldCode="AU" term="%22Carss+KJ%22">Carss KJ</searchLink>; 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@astrazeneca.com.
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