Exome sequencing identifies rare variants in multiple genes in atrioventricular septal defect

Genetics in Medicine

Volumn 18, Issue 2, 2016, Pages 189-198

  D'Alessandro, Lisa C A ^a   Al Turki, Saeed ^b,c   Manickaraj, Ashok Kumar ^a   Manase, Dorin ^a   Mulder, Barbara J M ^d   Bergin, Lynn ^e   Rosenberg, Herschel C ^e   Mondal, Tapas ^f   Gordon, Elaine ^f   Lougheed, Jane ^g   Smythe, John ^h   Devriendt, Koen ⁱ   Bhattacharya, Shoumo ^j   Watkins, Hugh ^j   Bentham, Jamie ^k   Bowdin, Sarah ^a   Hurles, Matthew E ^b   Mital, Seema ^a  

^a HOSPITAL FOR SICK CHILDREN   (Canada)

^b WELLCOME TRUST SANGER INSTITUTE   (United Kingdom)

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

^d ACADEMIC MEDICAL CENTER   (Netherlands)

^e LONDON HEALTH SCIENCES CENTRE   (Canada)

^f HAMILTON HEALTH SCIENCES   (Canada)

^g CHILDREN S HOSPITAL OF EASTERN ONTARIO   (Canada)

^h KINGSTON GENERAL HOSPITAL   (Canada)

ⁱ UNIVERSITY OF LEUVEN   (Belgium)

^j UNIVERSITY OF OXFORD   (United Kingdom)

^k BOSTON CHILDREN S HOSPITAL   (United States)

more..

Author keywords

atrioventricular septal defect; CHARGE syndrome; Cornelia de Lange syndrome; endocardial cushion defect; wholeexome sequencing

Indexed keywords

ADOLESCENT; ARTICLE; ATRIOVENTRICULAR SEPTAL DEFECT; BMPR1A GENE; CEP152 GENE; CHD7 GENE; CONFIDENCE INTERVAL; CONTROLLED STUDY; FALLOT TETRALOGY; FEMALE; GENE; GENE SEQUENCE; GENETIC ANALYZER; GENETIC ASSOCIATION; HUMAN; MAJOR CLINICAL STUDY; MALE; MDM4 GENE; NIPBL GENE; ODDS RATIO; WHOLE EXOME SEQUENCING; WHOLE EXOME SEQUENCING KIT; ZFPM2 GENE; COHORT ANALYSIS; DNA MUTATIONAL ANALYSIS; DNA SEQUENCE; EXOME; GENETIC VARIATION; GENETICS; GENOTYPE; HEART SEPTUM DEFECT; MUTATION; PHENOTYPE;

ADOLESCENT; COHORT STUDIES; DNA MUTATIONAL ANALYSIS; EXOME; FEMALE; GENETIC VARIATION; GENOTYPE; HEART SEPTAL DEFECTS; HUMANS; MALE; MUTATION; PHENOTYPE; SEQUENCE ANALYSIS, DNA;

EID: 84957701686     PISSN: 10983600     EISSN: 15300366     Source Type: Journal    
DOI: 10.1038/gim.2015.60     Document Type: Article

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