Large-scale discovery of novel genetic causes of developmental disorders

Nature

Volumn 519, Issue 7542, 2015, Pages 223-228

  Fitzgerald, T W ^a   Gerety, S S ^a   Jones, W D ^a   Van Kogelenberg, M ^a   King, D A ^a   McRae, J ^a   Morley, K I ^a   Parthiban, V ^a   Al Turki, S ^a   Ambridge, K ^a   Barrett, D M ^a   Bayzetinova, T ^a   Clayton, S ^a   Coomber, E L ^a   Gribble, S ^a   Jones, P ^a   Krishnappa, N ^a   Mason, L E ^a   Middleton, A ^a   Miller, R ^a   Prigmore, E ^a   Rajan, D ^a   Sifrim, A ^a   Tivey, A R ^a   Ahmed, M ^b,c,d   Akawi, N ^a   Andrews, R ^a   Anjum, U ^e   Archer, H ^f,g   Armstrong, R ^h   Balasubramanian, M ⁱ   Banerjee, R ^a   Baralle, D ^b,c,d   Batstone, P ^j   Baty, D ^k   Bennett, C ^l   Berg, J ^k   Bernhard, B ^m   Bevan, A P ^a   Blair, E ⁿ   Blyth, M ^l   Bohanna, D ^o   Bourdon, L ^m   Bourn, D ^p   Brady, A ^m   Bragin, E ^a   Brewer, C ^q   Brueton, L ^o   Brunstrom, K ^r   Bumpstead, S J ^a   Bunyan, D J ^b,c,d   Burn, J ^p   Burton, J ^a   Canham, N ^m   Castle, B ^q   Chandler, K ^s   Clasper, S ⁿ   Clayton Smith, J ^s   Cole, T ^o   Collins, A ^b,c,d   Collinson, M N ^b,c,d   Connell, F ^t   Cooper, N ^o   Cox, H ^o   Cresswell, L ^u   Cross, G ^v   Crow, Y ^s   D'Alessandro, M ^j   Dabir, T ^w   Davidson, R ^x   Davies, S ^f,g   Dean, J ^j   Deshpande, C ^t   Devlin, G ^q   Dixit, A ^v   Dominiczak, A ^y   Donnelly, C ^s   Donnelly, D ^w   Douglas, A ^z   Duncan, A ^x   Eason, J ^v   Edkins, S ^a   Ellard, S ^q   Ellis, P ^a   Elmslie, F ^e   Evans, K ^f,g   Everest, S ^q   Fendick, T ^t   Fisher, R ^p   Flinter, F ^t   Foulds, N ^b,c,d   Fryer, A ^z   Fu, B ^a   Gardiner, C ^x   Gaunt, L ^s   Ghali, N ^m   Gibbons, R ⁿ   Gomes Pereira, S L ^a   Goodship, J ^p   Goudie, D ^k   Gray, E ^a   Greene, P ^aa   Greenhalgh, L ^z   Harrison, L ^b,c,d   Hawkins, R ^ab   Hellens, S ^p   Henderson, A ^p   Hobson, E ^l   Holden, S ^h   Holder, S ^m   Hollingsworth, G ^r   Homfray, T ^e   Humphreys, M ^w   Hurst, J ^r   Ingram, S ⁱ   Irving, M ^t   Jarvis, J ^o   Jenkins, L ^r   Johnson, D ⁱ   Jones, D ^a   Jones, E ^s   Josifova, D ^t   Joss, S ^w   Kaemba, B ^u   Kazembe, S ^u   Kerr, B ^s   Kini, U ⁿ   Kinning, E ^x   Kirby, G ^o   Kirk, C ^w   Kivuva, E ^q   Kraus, A ^l   Kumar, D ^f,g   Lachlan, K ^b,c,d   Lam, W ^aa   Lampe, A ^aa   Langman, C ^t   Lees, M ^r   Lim, D ^o   Lowther, G ^x   Lynch, S A ^ac   Magee, A ^w   Maher, E ^aa   Mansour, S ^e   Marks, K ^e   Martin, K ^v   Maye, U ^z   McCann, E ^f,g   McConnell, V ^w   McEntagart, M ^e   McGowan, R ^j   McKay, K ^o   McKee, S ^w   McMullan, D J ^o   McNerlan, S ^w   Mehta, S ^h   Metcalfe, K ^s   Miles, E ^s   Mohammed, S ^t   Montgomery, T ^p   Moore, D ^aa   Morgan, S ^f,g   Morris, A ^ad   Morton, J ^o   Mugalaasi, H ^f,g   Murday, V ^x   Nevitt, L ⁱ   Newbury Ecob, R ^ab   Norman, A ^o   O'Shea, R ^ac   Ogilvie, C ^t   Park, S ^h   Parker, M J ^i,af   Patel, C ^o   Paterson, J ^h   Payne, S ^m   Phipps, J ⁿ   Pilz, D T ^f,g   Porteous, D ^aa   Pratt, N ^k   Prescott, K ^l   Price, S ⁿ   Pridham, A ⁿ   Procter, A ^f,g   Purnell, H ⁿ   Ragge, N ^o   Rankin, J ^q   Raymond, L ^h   Rice, D ^k   Robert, L ^t   Roberts, E ^ab   Roberts, G ^z   Roberts, J ^h   Roberts, P ^l   Ross, A ^j   Rosser, E ^r   Saggar, A ^e   Samant, S ^j   Sandford, R ^h   Sarkar, A ^v   Schweiger, S ^k   Scott, C ^a   Scott, R ^r   Selby, A ^v   Seller, A ⁿ   Sequeira, C ^m   Shannon, N ^v   Sharif, S ^o   Shaw Smith, C ^q   Shearing, E ⁱ   Shears, D ⁿ   Simonic, I ^h   Simpkin, D ^a   Singzon, R ^m   Skitt, Z ^s   Smith, A ^l   Smith, B ^ae   Smith, K ⁱ   Smithson, S ^ab   Sneddon, L ^p   Splitt, M ^p   Squires, M ^l   Stewart, F ^w   Stewart, H ⁿ   Suri, M ^v   Sutton, V ^z   Swaminathan, G J ^a   Sweeney, E ^z   Tatton Brown, K ^e   Taylor, C ⁱ   Taylor, R ^e   Tein, M ^o   Temple, I K ^b,c,d   Thomson, J ^l   Tolmie, J ^x   Torokwa, A ^b,c,d   Treacy, B ^h   Turner, C ^q   Turnpenny, P ^q   Tysoe, C ^q   Vandersteen, A ^m   Vasudevan, P ^u   Vogt, J ^o   Wakeling, E ^m   Walker, D ^a   Waters, J ^r   Weber, A ^z   Wellesley, D ^b,c,d   Whiteford, M ^x   Widaa, S ^a   Wilcox, S ^h   Williams, D ^o   Williams, N ^x   Woods, G ^h   Wragg, C ^ab   Wright, M ^p   Yang, F ^a   Yau, M ^t   Carter, N P ^a   Firth, H V ^a,h   FitzPatrick, D R ^aa   Wright, C F ^a   Barrett, J C ^a   Hurles, M E ^a   more..

^a WELLCOME TRUST SANGER INSTITUTE   (United Kingdom)

^b PRINCESS ANNE HOSPITAL   (United Kingdom)

^c SALISBURY DISTRICT HOSPITAL   (United Kingdom)

^d UNIVERSITY OF SOUTHAMPTON   (United Kingdom)

^e ST GEORGE'S UNIVERSITY OF LONDON   (United Kingdom)

^f UNIVERSITY HOSPITAL OF WALES   (United Kingdom)

^g GLAN CLWYD HOSPITAL   (United Kingdom)

^h CAMBRIDGE UNIVERSITY HOSPITALS NHS FOUNDATION TRUST   (United Kingdom)

ⁱ SHEFFIELD CHILDREN'S NHS FOUNDATION TRUST   (United Kingdom)

^j UNIVERSITY OF ABERDEEN   (United Kingdom)

^k NINEWELLS HOSPITAL   (United Kingdom)

^l CHAPEL ALLERTON HOSPITAL   (United Kingdom)

^m EALING HOSPITAL NHS TRUST   (United Kingdom)

ⁿ OXFORD UNIVERSITY HOSPITALS NHS FOUNDATION TRUST   (United Kingdom)

^o BIRMINGHAM WOMEN S HOSPITAL   (United Kingdom)

^p NEWCASTLE UPON TYNE HOSPITALS NHS FOUNDATION TRUST   (United Kingdom)

^q ROYAL DEVON AND EXETER HOSPITAL   (United Kingdom)

^r GREAT ORMOND STREET HOSPITAL   (United Kingdom)

^s MANCHESTER UNIVERSITY NHS FOUNDATION TRUST   (United Kingdom)

^t GUY S HOSPITAL   (United Kingdom)

^u UNIVERSITY HOSPITALS OF LEICESTER NHS TRUST   (United Kingdom)

^v NOTTINGHAM CITY HOSPITAL   (United Kingdom)

^w BELFAST CITY HOSPITAL   (United Kingdom)

^x ROYAL HOSPITAL FOR SICK CHILDREN   (United Kingdom)

^y UNIVERSITY OF GLASGOW   (United Kingdom)

^z ALDER HEY CHILDREN S HOSPITAL   (United Kingdom)

^aa UNIVERSITY OF EDINBURGH   (United Kingdom)

^ab ST MICHAEL'S HOSPITAL   (United Kingdom)

^ac OUR LADY S CHILDREN S HOSPITAL   (Ireland)

^ad UNIVERSITY OF EDINBURGH   (United Kingdom)

^ae UNIVERSITY OF DUNDEE   (United Kingdom)

^af UNIVERSITY OF OXFORD   (United Kingdom)

more..

Author keywords

[No Author keywords available]

Indexed keywords

MESSENGER RNA;

ANIMAL EXPERIMENT; ANIMAL MODEL; AUTISM; AUTOSOMAL DOMINANT INHERITANCE; BRAIN DISEASE; CHILD; CHROMOSOME REARRANGEMENT; COMPARATIVE GENOMIC HYBRIDIZATION; CONGENITAL HEART MALFORMATION; CONTROLLED STUDY; DEVELOPMENTAL DISORDER; DIAGNOSTIC VALUE; EPILEPSY; EXOME; FEMALE; GAIN OF FUNCTION MUTATION; GENE FUNCTION; GENE IDENTIFICATION; GENE SEQUENCE; GENE SILENCING; GENETIC ANALYSIS; GENETIC ASSOCIATION; GENETIC SCREENING; GENETIC VARIABILITY; GENOTYPE; HUMAN; INTELLECTUAL IMPAIRMENT; LETTER; LOSS OF FUNCTION MUTATION; MAJOR CLINICAL STUDY; MALE; MICROARRAY ANALYSIS; MISSENSE MUTATION; MOLECULAR PATHOLOGY; NONHUMAN; PATHOGENICITY; PHENOTYPE; PREDICTIVE VALUE; PRIORITY JOURNAL; SCHIZOPHRENIA; SEX DIFFERENCE; SYSTEMATIC REVIEW (TOPIC); ADOLESCENT; ANIMAL; CHROMOSOME ABERRATION; DEVELOPMENTAL DISABILITIES; DOMINANT GENE; GENE EXPRESSION REGULATION; GENETICS; GREAT BRITAIN; HUMAN GENOME; INFANT; NEWBORN; PARENT; PRESCHOOL CHILD; RARE DISEASE; ZEBRA FISH;

ADOLESCENT; ANIMALS; CHILD; CHILD, PRESCHOOL; CHROMOSOME ABERRATIONS; DEVELOPMENTAL DISABILITIES; EXOME; FEMALE; GENE EXPRESSION REGULATION, DEVELOPMENTAL; GENES, DOMINANT; GENOME, HUMAN; GREAT BRITAIN; HUMANS; INFANT; INFANT, NEWBORN; MALE; MUTATION, MISSENSE; PARENTS; RARE DISEASES; ZEBRAFISH;

EID: 84924666082     PISSN: 00280836     EISSN: 14764687     Source Type: Journal    
DOI: 10.1038/nature14135     Document Type: Letter

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