Contribution of rare inherited and de novo variants in 2,871 congenital heart disease probands

Nature Genetics

Volumn 49, Issue 11, 2017, Pages 1593-1601

  Jin, Sheng Chih ^a,c   Homsy, Jason ^b,c   Zaidi, Samir ^a   Lu, Qiongshi ^d   Morton, Sarah ^e   Depalma, Steven R ^b   Zeng, Xue ^a   Qi, Hongjian ^f   Chang, Weni ^g   Sierant, Michael C ^a   Hung, Wei Chien ^a   Haider, Shozeb ^h   Zhang, Junhui ^a   Knight, James ^a   Bjornson, Robert D ^a   Castaldi, Christopher ^a   Tikhonoa, Irina R ^a   Bilguvar, Kaya ^a   Mane, Shrikant M ^a   Sanders, Stephan J ⁱ   Mital, Seema ^j   Russell, Mark W ^k   Gaynor, J William ^l   Deanfield, John ^m   Giardini, Alessandro ^m   Porter, George A ⁿ   Srivastava, Deepak ^i,o,p   Lo, Cecelia W ^q   Shen, Yufeng ^g   Watkins, W Scott ^r   Yandell, Mark ^r,s   Yost, H Joseph ^r   Tristani Firouzi, Martin ^r   Newburger, Jane W ^e   Roberts, Amy E ^e   Kim, Richard ^t   Zhao, Hongyu ^d   Kaltman, Jonathan R ^u   Goldmuntz, Elizabeth ^v   Chung, Wendy K ^g   Seidman, Jonathan G ^b   Gelb, Bruce D ^w   Seidman, Christine E ^b,c,x   Lifton, Richard P ^a,y   Brueckner, Martina ^a   more..

^a YALE UNIVERSITY SCHOOL OF MEDICINE   (United States)

^b HARVARD MEDICAL SCHOOL   (United States)

^c BRIGHAM AND WOMEN S HOSPITAL   (United States)

^d YALE UNIVERSITY   (United States)

^e BOSTON CHILDREN S HOSPITAL   (United States)

^f Columbia University ^*  (United States)

^g NewYork Presbyterian Hospital   (United States)

^h UNIVERSITY OF LONDON   (United Kingdom)

ⁱ UNIVERSITY OF CALIFORNIA   (United States)

^j HOSPITAL FOR SICK CHILDREN   (Canada)

^k UNIVERSITY OF MICHIGAN MEDICAL SCHOOL   (United States)

^l CHILDREN S HOSPITAL OF PHILADELPHIA   (United States)

^m UNIVERSITY COLLEGE LONDON   (United Kingdom)

ⁿ UNIVERSITY OF ROCHESTER SCHOOL OF MEDICINE AND DENTISTRY   (United States)

^o GLADSTONE INSTITUTE OF CARDIOVASCULAR DISEASE   (United States)

^p Roddenberry Center for Stem Cell Biology and Medicine at Gladstone   (United States)

^q UNIVERSITY OF PITTSBURGH SCHOOL OF MEDICINE   (United States)

^r UNIVERSITY OF UTAH SCHOOL OF MEDICINE   (United States)

^s UNIVERSITY OF UTAH   (United States)

^t CHILDREN S HOSPITAL LOS ANGELES   (United States)

^u NATIONAL HEART LUNG AND BLOOD INSTITUTE   (United States)

^v UNIVERSITY OF PENNSYLVANIA   (United States)

^w MOUNT SINAI SCHOOL OF MEDICINE   (United States)

^x HARVARD UNIVERSITY   (United States)

^y ROCKEFELLER UNIVERSITY   (United States)

more..

Author keywords

[No Author keywords available]

Indexed keywords

BONE MORPHOGENETIC PROTEIN 2; GENOMIC DNA; GROWTH DIFFERENTIATION FACTOR 1; NOTCH1 RECEPTOR; PHOSPHATIDYLINOSITOL 3,4,5 TRISPHOSPHATE 3 PHOSPHATASE; SMAD2 PROTEIN; SMAD6 PROTEIN; TRANSCRIPTION FACTOR GATA 6; VASCULOTROPIN RECEPTOR 3; CARDIAC MYOSIN; FLT4 PROTEIN, HUMAN; GDF1 PROTEIN, HUMAN; MYH6 PROTEIN, HUMAN; MYOSIN HEAVY CHAIN;

ARTICLE; AUTISM; BICUSPID AORTIC VALVE; C21ORF2 GENE; CCDC154 GENE; CHD7 GENE; CHILD; CHROMOSOME BAND; COHORT ANALYSIS; CONGENITAL HEART DISEASE; CONTROLLED STUDY; DE NOVO MUTATION; DISEASE SEVERITY; DOMINANT GENE; ELN GENE; FRYL GENE; GENE FREQUENCY; GENE MUTATION; GENETIC VARIABILITY; GENOTYPE; GPBAR1 GENE; H1FOO GENE; HETEROZYGOTE; HOMOZYGOTE; HUMAN; INDEL MUTATION; KDM5B GENE; KMT2D GENE; MAJOR CLINICAL STUDY; MITRAL VALVE DISEASE; MODIFIER GENE; NODAL GENE; NONHUMAN; NSD1 GENE; PENETRANCE; PHENOTYPE; POGZ GENE; PRIORITY JOURNAL; PROGENY; PTPN11 GENE; RARE DISEASE; RBFOX2 GENE; RECESSIVE GENE; RPL5 GENE; SAMD11 GENE; SLCO1B3 GENE; SOS1 GENE; TBX18 GENE; TRISOMY; WHOLE EXOME SEQUENCING; ADULT; CASE CONTROL STUDY; CONGENITAL HEART MALFORMATION; EXOME; FEMALE; GENE EXPRESSION; GENETIC PREDISPOSITION; GENETICS; GENOME-WIDE ASSOCIATION STUDY; HIGH THROUGHPUT SEQUENCING; MALE; MUTATION; PATHOLOGY; PEDIGREE; RISK;

ADULT; AUTISTIC DISORDER; CARDIAC MYOSINS; CASE-CONTROL STUDIES; CHILD; EXOME; FEMALE; GENE EXPRESSION; GENETIC PREDISPOSITION TO DISEASE; GENOME-WIDE ASSOCIATION STUDY; GROWTH DIFFERENTIATION FACTOR 1; HEART DEFECTS, CONGENITAL; HETEROZYGOTE; HIGH-THROUGHPUT NUCLEOTIDE SEQUENCING; HOMOZYGOTE; HUMANS; MALE; MUTATION; MYOSIN HEAVY CHAINS; PEDIGREE; RISK; VASCULAR ENDOTHELIAL GROWTH FACTOR RECEPTOR-3;

EID: 85032451853     PISSN: 10614036     EISSN: 15461718     Source Type: Journal    
DOI: 10.1038/ng.3970     Document Type: Article

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