De Novo and Rare Variants at Multiple Loci Support the Oligogenic Origins of Atrioventricular Septal Heart Defects

PLoS Genetics

Volumn 12, Issue 4, 2016, Pages

  Priest, James R ^a   Osoegawa, Kazutoyo ^a   Mohammed, Nebil ^b   Nanda, Vivek ^a   Kundu, Ramendra ^a   Schultz, Kathleen ^b   Lammer, Edward J ^b   Girirajan, Santhosh ^c   Scheetz, Todd ^d   Waggott, Daryl ^a   Haddad, Francois ^a   Reddy, Sushma ^a   Bernstein, Daniel ^a   Burns, Trudy ^e   Steimle, Jeffrey D ^f   Yang, Xinan H ^f   Moskowitz, Ivan P ^f   Hurles, Matthew ^g   Lifton, Richard P ^h,i   Nickerson, Debbie ^j   Bamshad, Michael ^j,k   Eichler, Evan E ^i,j   Mital, Seema ^l   Sheffield, Val ^i,m   Quertermous, Thomas ^a   Gelb, Bruce D ⁿ   Portman, Michael ^k   Ashley, Euan A ^a   more..

^a STANFORD UNIVERSITY SCHOOL OF MEDICINE   (United States)

^b UNIVERSITY OF CALIFORNIA   (United States)

^c PENNSYLVANIA STATE UNIVERSITY   (United States)

^d IA United States   (United States)

^e UNIVERSITY OF IOWA   (United States)

^f UNIVERSITY OF CHICAGO   (United States)

^g WELLCOME TRUST SANGER INSTITUTE   (United Kingdom)

^h YALE UNIVERSITY SCHOOL OF MEDICINE   (United States)

ⁱ HOWARD HUGHES MEDICAL INSTITUTE   (United States)

^j UNIVERSITY OF WASHINGTON   (United States)

^k UNIVERSITY OF WASHINGTON SCHOOL OF MEDICINE   (United States)

^l UNIVERSITY OF TORONTO   (Canada)

^m UNIVERSITY OF IOWA   (United States)

ⁿ MOUNT SINAI SCHOOL OF MEDICINE   (United States)

more..

Author keywords

[No Author keywords available]

Indexed keywords

ALLELE; ANIMAL CELL; ANIMAL EXPERIMENT; ANIMAL TISSUE; ARTICLE; ATRIOVENTRICULAR SEPTAL DEFECT; COHORT ANALYSIS; CONGENITAL HEART MALFORMATION; CONGESTIVE CARDIOMYOPATHY; CONTROLLED STUDY; DNA BINDING; EMBRYO; EXOME; FEMALE; GENE; GENE FUNCTION; GENE LOCUS; GENE MUTATION; GENE REPLICATION; GENE SEQUENCE; GENETIC ASSOCIATION; GENETIC RISK; GENETIC TRANSCRIPTION; GENETIC VARIABILITY; GENETIC VARIATION; HUMAN; HUMAN CELL; INHERITANCE; MAJOR CLINICAL STUDY; MOUSE; MOUSE MODEL; NONHUMAN; NR1D2 GENE; PROTEIN DOMAIN; PROTEIN INTERACTION; SECONDARY ANALYSIS; TRANSACTIVATION; UMBILICAL VEIN ENDOTHELIAL CELL; ANIMAL; GENETICS; HEART SEPTUM DEFECT; HETEROZYGOTE; HOMOZYGOTE; KNOCKOUT MOUSE; MALE; MUTATION; PEDIGREE;

ANIMALS; FEMALE; HEART SEPTAL DEFECTS; HETEROZYGOTE; HOMOZYGOTE; HUMANS; MALE; MICE; MICE, KNOCKOUT; MUTATION; PEDIGREE;

EID: 84964832856     PISSN: 15537390     EISSN: 15537404     Source Type: Journal    
DOI: 10.1371/journal.pgen.1005963     Document Type: Article

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