Art

J-GLOBAL ID：201702291406142070   Reference number：17A0287768

Prevalence and architecture of de novo mutations in developmental disorders

発達障害におけるde novo変異の保有率と構造

Author (120)： MCRAE Jeremy F. (Wellcome Trust Sanger Inst., Cambridge, GBR) ,  CLAYTON Stephen (Wellcome Trust Sanger Inst., Cambridge, GBR) ,  FITZGERALD Tomas W. (Wellcome Trust Sanger Inst., Cambridge, GBR) ,  KAPLANIS Joanna (Wellcome Trust Sanger Inst., Cambridge, GBR) ,  PRIGMORE Elena (Wellcome Trust Sanger Inst., Cambridge, GBR) ,  RAJAN Diana (Wellcome Trust Sanger Inst., Cambridge, GBR) ,  SIFRIM Alejandro (Wellcome Trust Sanger Inst., Cambridge, GBR) ,  AKAWI Nadia (Wellcome Trust Sanger Inst., Cambridge, GBR) ,  AMBRIDGE Kirsty (Wellcome Trust Sanger Inst., Cambridge, GBR) ,  BARRETT Daniel M. (Wellcome Trust Sanger Inst., Cambridge, GBR) ,  BAYZETINOVA Tanya (Wellcome Trust Sanger Inst., Cambridge, GBR) ,  JONES Philip (Wellcome Trust Sanger Inst., Cambridge, GBR) ,  JONES Wendy D. (Wellcome Trust Sanger Inst., Cambridge, GBR) ,  KING Daniel (Wellcome Trust Sanger Inst., Cambridge, GBR) ,  KRISHNAPPA Netravathi (Wellcome Trust Sanger Inst., Cambridge, GBR) ,  MASON Laura E. (Wellcome Trust Sanger Inst., Cambridge, GBR) ,  SINGH Tarjinder (Wellcome Trust Sanger Inst., Cambridge, GBR) ,  TIVEY Adrian R. (Wellcome Trust Sanger Inst., Cambridge, GBR) ,  AWADA Jana (Wellcome Trust Sanger Inst., Cambridge, GBR) ,  BEVAN A. Paul (Wellcome Trust Sanger Inst., Cambridge, GBR) ,  BRENT Simon (Wellcome Trust Sanger Inst., Cambridge, GBR) ,  CHATZIMICHALI Elena (Wellcome Trust Sanger Inst., Cambridge, GBR) ,  COLGIU Irina (Wellcome Trust Sanger Inst., Cambridge, GBR) ,  DE VRIES Dylan (Wellcome Trust Sanger Inst., Cambridge, GBR) ,  GRAY Emma (Wellcome Trust Sanger Inst., Cambridge, GBR) ,  GRIBBLE Susan (Wellcome Trust Sanger Inst., Cambridge, GBR) ,  HE Liu (Wellcome Trust Sanger Inst., Cambridge, GBR) ,  HILDYARD Lucy (Wellcome Trust Sanger Inst., Cambridge, GBR) ,  HUTTON Ben (Wellcome Trust Sanger Inst., Cambridge, GBR) ,  KELSELL Rosemary (Wellcome Trust Sanger Inst., Cambridge, GBR) ,  MIDDLETON Anna (Wellcome Trust Sanger Inst., Cambridge, GBR) ,  PERRETT Daniel (Wellcome Trust Sanger Inst., Cambridge, GBR) ,  POLLARD Martin (Wellcome Trust Sanger Inst., Cambridge, GBR) ,  RAHBARI Raheleh (Wellcome Trust Sanger Inst., Cambridge, GBR) ,  RANDALL Josh (Wellcome Trust Sanger Inst., Cambridge, GBR) ,  SWAMINATHAN Ganesh Jawahar (Wellcome Trust Sanger Inst., Cambridge, GBR) ,  VIJAYARANGAKANNAN Parthiban (Wellcome Trust Sanger Inst., Cambridge, GBR) ,  WIDAA Sara (Wellcome Trust Sanger Inst., Cambridge, GBR) ,  WILKINSON Emily (Wellcome Trust Sanger Inst., Cambridge, GBR) ,  FIRTH Helen V. (Wellcome Trust Sanger Inst., Cambridge, GBR) ,  WRIGHT Caroline F. (Wellcome Trust Sanger Inst., Cambridge, GBR) ,  FITZPATRICK David R. (Wellcome Trust Sanger Inst., Cambridge, GBR) ,  BARRETT Jeffrey C. (Wellcome Trust Sanger Inst., Cambridge, GBR) ,  HURLES Matthew E. (Wellcome Trust Sanger Inst., Cambridge, GBR) ,  AITKEN Stuart (Univ. Edinburgh, Edinburgh, GBR) ,  GREENE Philip (Univ. Edinburgh, Edinburgh, GBR) ,  JACKSON Andrew (Univ. Edinburgh, Edinburgh, GBR) ,  LAM Wayne (Univ. Edinburgh, Edinburgh, GBR) ,  LAMPE Anne (Univ. Edinburgh, Edinburgh, GBR) ,  MAHER Eddy (Univ. Edinburgh, Edinburgh, GBR) ,  MOORE David (Univ. Edinburgh, Edinburgh, GBR) ,  FITZPATRICK David R. (Univ. Edinburgh, Edinburgh, GBR) ,  ALVI Mohsan (Univ. Oxford, Oxford, GBR) ,  AHMED Munaza (Princess Anne Hospital, Southampton, GBR) ,  BARALLE Diana (Princess Anne Hospital, Southampton, GBR) ,  BUNYAN David J. (Princess Anne Hospital, Southampton, GBR) ,  COLLINS Amanda (Princess Anne Hospital, Southampton, GBR) ,  COLLINSON Morag N. (Princess Anne Hospital, Southampton, GBR) ,  FOULDS Nicola (Princess Anne Hospital, Southampton, GBR) ,  HARRISON Lucy (Princess Anne Hospital, Southampton, GBR) ,  HARRISON Victoria (Princess Anne Hospital, Southampton, GBR) ,  LACHLAN Katherine (Princess Anne Hospital, Southampton, GBR) ,  TEMPLE I. Karen (Princess Anne Hospital, Southampton, GBR) ,  TOROKWA Audrey (Princess Anne Hospital, Southampton, GBR) ,  WELLESLEY Diana (Princess Anne Hospital, Southampton, GBR) ,  AHMED Munaza (Salisbury District Hospital, Wiltshire, GBR) ,  BARALLE Diana (Salisbury District Hospital, Wiltshire, GBR) ,  BUNYAN David J. (Salisbury District Hospital, Wiltshire, GBR) ,  COLLINS Amanda (Salisbury District Hospital, Wiltshire, GBR) ,  COLLINSON Morag N. (Salisbury District Hospital, Wiltshire, GBR) ,  FOULDS Nicola (Salisbury District Hospital, Wiltshire, GBR) ,  HARRISON Lucy (Salisbury District Hospital, Wiltshire, GBR) ,  HARRISON Victoria (Salisbury District Hospital, Wiltshire, GBR) ,  LACHLAN Katherine (Salisbury District Hospital, Wiltshire, GBR) ,  TEMPLE I. Karen (Salisbury District Hospital, Wiltshire, GBR) ,  TOROKWA Audrey (Salisbury District Hospital, Wiltshire, GBR) ,  WELLESLEY Diana (Salisbury District Hospital, Wiltshire, GBR) ,  AHMED Munaza (Univ. Southampton, Southampton, GBR) ,  BARALLE Diana (Univ. Southampton, Southampton, GBR) ,  BUNYAN David J. (Univ. Southampton, Southampton, GBR) ,  COLLINS Amanda (Univ. Southampton, Southampton, GBR) ,  COLLINSON Morag N. (Univ. Southampton, Southampton, GBR) ,  FOULDS Nicola (Univ. Southampton, Southampton, GBR) ,  HARRISON Lucy (Univ. Southampton, Southampton, GBR) ,  HARRISON Victoria (Univ. Southampton, Southampton, GBR) ,  LACHLAN Katherine (Univ. Southampton, Southampton, GBR) ,  TEMPLE I. Karen (Univ. Southampton, Southampton, GBR) ,  TOROKWA Audrey (Univ. Southampton, Southampton, GBR) ,  WELLESLEY Diana (Univ. Southampton, Southampton, GBR) ,  ANJUM Uruj (Univ. London, London, GBR) ,  ELMSLIE Frances (Univ. London, London, GBR) ,  HOMFRAY Tessa (Univ. London, London, GBR) ,  MANSOUR Sahar (Univ. London, London, GBR) ,  MARKS Karen (Univ. London, London, GBR) ,  MCENTAGART Meriel (Univ. London, London, GBR) ,  SAGGAR Anand (Univ. London, London, GBR) ,  TATTON-BROWN Kate (Univ. London, London, GBR) ,  TAYLOR Rohan (Univ. London, London, GBR) ,  ARCHER Hayley (Univ. Hospital of Wales, Cardiff, GBR) ,  CLARKE Angus (Univ. Hospital of Wales, Cardiff, GBR) ,  DAVIES Sally (Univ. Hospital of Wales, Cardiff, GBR) ,  EVANS Karenza (Univ. Hospital of Wales, Cardiff, GBR) ,  FRY Andrew (Univ. Hospital of Wales, Cardiff, GBR) ,  KUMAR Dhavendra (Univ. Hospital of Wales, Cardiff, GBR) ,  MORGAN Sian (Univ. Hospital of Wales, Cardiff, GBR) ,  MUGALAASI Hood (Univ. Hospital of Wales, Cardiff, GBR) ,  PROCTER Annie (Univ. Hospital of Wales, Cardiff, GBR) ,  SAMPSON Julian (Univ. Hospital of Wales, Cardiff, GBR) ,  VARGHESE Vinod (Univ. Hospital of Wales, Cardiff, GBR) ,  ARCHER Hayley (Glan Clwyd Hospital, Denbighshire, GBR) ,  CLARKE Angus (Glan Clwyd Hospital, Denbighshire, GBR) ,  DAVIES Sally (Glan Clwyd Hospital, Denbighshire, GBR) ,  EVANS Karenza (Glan Clwyd Hospital, Denbighshire, GBR) ,  FRY Andrew (Glan Clwyd Hospital, Denbighshire, GBR) ,  KUMAR Dhavendra (Glan Clwyd Hospital, Denbighshire, GBR) ,  MORGAN Sian (Glan Clwyd Hospital, Denbighshire, GBR) ,  MUGALAASI Hood (Glan Clwyd Hospital, Denbighshire, GBR) ,  PROCTER Annie (Glan Clwyd Hospital, Denbighshire, GBR) ,  SAMPSON Julian (Glan Clwyd Hospital, Denbighshire, GBR) ,  VARGHESE Vinod (Glan Clwyd Hospital, Denbighshire, GBR)
Material： Nature (London)  (Nature (Lond))
Volume： 542  Issue： 7642  Page： 433-438  Publication year： Feb. 23, 2017 
JST Material Number： D0193B  ISSN： 0028-0836  Document type： Article
Article type： 原著論文  Country of issue： United Kingdom (GBR)  Language： ENGLISH (EN)

Thesaurus term： *mental disorder ,  *mutation ,  *genome ,  human(primates) ,  nucleotide sequence ,  meta-analysis ,  phenotype ,  cohort study ,  morbidity ,  age specificity ,  parent ,  gene ,  biodiversity
Semi thesaurus term： *de novo mutation ,  *Exome ,  Age dependency ,  Developmental Disabilities ,  phenotypic diversity ,  Parents

JST classification (3)： Genetic variation  (EC01030Y) ,  Structure and chemistry of genes  (EC02020U) ,  Basic psychiatry  (GR01020I)

Terms in the title (3)： 発達障害 ,  変異 ,  保有率