Distinct genetic architectures for syndromic and nonsyndromic congenital heart defects identified by exome sequencing

Nature Genetics

Volumn 48, Issue 9, 2016, Pages 1060-1065

  Sifrim, Alejandro ^a   Hitz, Marc Phillip ^a,b,c   Wilsdon, Anna ^d   Breckpot, Jeroen ^e   Turki, Saeed H Al ^a,f,g   Thienpont, Bernard ^h,i   McRae, Jeremy ^j,k   Fitzgerald, Tomas W ^c,l   Singh, Tarjinder ^m   Swaminathan, Ganesh Jawahar ⁿ   Prigmore, Elena ^o   Rajan, Diana ^p   Abdul Khaliq, Hashim ^q   Banka, Siddharth ^r,s   Bauer, Ulrike M M ^t   Bentham, Jamie ^u   Berger, Felix ^e   Bhattacharya, Shoumo ^v,w,x   Bu'Lock, Frances ^y   Canham, Natalie ^z   Colgiu, Irina Gabriela ^aa   Cosgrove, Catherine ^ab   Cox, Helen ^ac   Daehnert, Ingo ^ad   Daly, Allan ^f,ae   Danesh, John ^t   Fryer, Alan ^ag,ah   Gewillig, Marc ^af,ai   Hobson, Emma ^aj   Hoff, Kirstin ^ak   Homfray, Tessa ^al,am   Kahlert, Anne Karin ^an   Ketley, Ami ^ad,ao,ap   Kramer, Hans Heiner ^aq   Lachlan, Katherine ^f,ar   Lampe, Anne Katrin ^ar,as   Louw, Jacoba J ^n,at   Manickara, Ashok Kumar ^g   Manase, Dorin ^e   McCarthy, Karen P ⁱ   Metcalfe, Kay ^j   Moore, Carmel ^a   Newbury Ecob, Ruth ^b   Omer, Seham Osman ^c   Ouwehand, Willem H ^f   Park, Soo Mi ^h   Parker, Michael J ⁱ   Pickardt, Thomas ^g   Pollard, Martin O ^a   Robert, Leema ^g   Roberts, David J ^c   Sambrook, Jennifer ^f   Setchfield, Kerry ^h   Stiller, Brigitte ⁱ   Thornborough, Chris ^a   Toka, Okan ^b   Watkins, Hugh ^d   Williams, Denise ^h   Wright, Michael ^h   Mital, Seema ^g   Daubeney, Piers E F ^h   Keavney, Bernard ^j   Goodship, Judith ^a   Abu Sulaiman, Riyadh Mahdi ^b   Klaassen, Sabine ^c,n,ag   Wright, Caroline F ^a   Firth, Helen V ^at   Barrett, Jeffrey C ^a   Devriendt, Koenraad ^e   Fitzpatrick, David R ^e   Brook, J David ^d   Hurles, Matthew E ^a   more..

^a WELLCOME TRUST SANGER INSTITUTE   (United Kingdom)

^b UNIVERSITY HOSPITAL SCHLESWIG HOLSTEIN   (Germany)

^c DZHK GERMAN CENTRE FOR CARDIOVASCULAR RESEARCH   (Germany)

^d UNIVERSITY OF NOTTINGHAM   (United Kingdom)

^e UNIVERSITY HOSPITALS LEUVEN   (Belgium)

^f KING SAUD BIN ABDULAZIZ UNIVERSITY FOR HEALTH SCIENCES   (Saudi Arabia)

^g HARVARD MEDICAL SCHOOL   (United States)

^h DEPARTMENT OF PLANT SYSTEMS BIOLOGY   (Belgium)

ⁱ UNIVERSITY OF LEUVEN   (Belgium)

^j SAARLAND UNIVERSITY   (Germany)

^k UNIVERSITY OF MANCHESTER   (United Kingdom)

^l ST MARY S HOSPITAL   (United Kingdom)

^m Yorkshire Heart Centre   (United Kingdom)

ⁿ CHARITÉ UNIVERSITÄTSMEDIZIN BERLIN   (Germany)

^o UNIVERSITY OF OXFORD   (United Kingdom)

^p GLENFIELD HOSPITAL   (United Kingdom)

^q EALING HOSPITAL NHS TRUST   (United Kingdom)

^r BIRMINGHAM WOMEN S HOSPITAL   (United Kingdom)

^s UNIVERSITY OF LEIPZIG   (Germany)

^t UNIVERSITY OF CAMBRIDGE   (United Kingdom)

^u LIVERPOOL WOMEN'S NHS FOUNDATION TRUST   (United Kingdom)

^v CHAPEL ALLERTON HOSPITAL   (United Kingdom)

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

^x DRESDEN UNIVERSITY OF TECHNOLOGY   (Germany)

^y PRINCESS ANNE HOSPITAL   (United Kingdom)

^z SALISBURY DISTRICT HOSPITAL   (United Kingdom)

^aa UNIVERSITY OF SOUTHAMPTON   (United Kingdom)

^ab WESTERN GENERAL HOSPITAL   (United Kingdom)

^ac HOSPITAL FOR SICK CHILDREN   (Canada)

^ad ROYAL BROMPTON HOSPITAL   (United Kingdom)

^ae ST MICHAEL'S HOSPITAL   (United Kingdom)

^af NHS BLOOD AND TRANSPLANT   (United Kingdom)

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

^ah SHEFFIELD CHILDREN S HOSPITAL   (United Kingdom)

^ai GUY S HOSPITAL   (United Kingdom)

^aj JOHN RADCLIFFE HOSPITAL   (United Kingdom)

^ak UNIVERSITY OF OXFORD   (United Kingdom)

^al UNIVERSITY OF FREIBURG   (Germany)

^am UNIVERSITY OF ERLANGEN NUREMBERG   (Germany)

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

^ao IMPERIAL COLLEGE LONDON   (United Kingdom)

^ap UNIVERSITY OF MANCHESTER   (United Kingdom)

^aq NEWCASTLE UNIVERSITY   (United Kingdom)

^ar KING SAUD BIN ABDULAZIZ UNIVERSITY FOR HEALTH SCIENCES   (Saudi Arabia)

^as MAX DELBRÜCK CENTER FOR MOLECULAR MEDICINE   (Germany)

^at UNIVERSITY OF EDINBURGH   (United Kingdom)

more..

Author keywords

[No Author keywords available]

Indexed keywords

PROTEIN TYROSINE PHOSPHATASE SHP 2; AUTOANTIGEN; CDK13 PROTEIN, HUMAN; CHD4 PROTEIN, HUMAN; CYCLIN DEPENDENT KINASE 1; HISTONE DEACETYLASE; PROTEIN KINASE C; PROTEIN KINASE D;

ARTICLE; CHILD; CONGENITAL HEART MALFORMATION; CONTROLLED STUDY; EXOME; FRAMESHIFT MUTATION; GENE SEQUENCE; GENOME ANALYSIS; HUMAN; MAJOR CLINICAL STUDY; MISSENSE MUTATION; NONSENSE MUTATION; PATHOGENESIS; PRIORITY JOURNAL; SILENT MUTATION; CHEMISTRY; COMPARATIVE STUDY; FEMALE; GENE DELETION; GENETICS; MALE; MUTATION; PROTEIN CONFORMATION; SYNDROME;

AUTOANTIGENS; CDC2 PROTEIN KINASE; EXOME; FEMALE; HEART DEFECTS, CONGENITAL; HUMANS; MALE; MI-2 NUCLEOSOME REMODELING AND DEACETYLASE COMPLEX; MUTATION; PROTEIN CONFORMATION; PROTEIN KINASE C; SEQUENCE DELETION; SYNDROME;

EID: 84980370998     PISSN: 10614036     EISSN: 15461718     Source Type: Journal    
DOI: 10.1038/ng.3627     Document Type: Article

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