De novo mutations in congenital heart disease with neurodevelopmental and other congenital anomalies

Science

Volumn 350, Issue 6265, 2015, Pages 1262-1266

  Homsy, Jason ^a,b   Zaidi, Samir ^c   Shen, Yufeng ^d   Ware, James S ^a,e,f   Samocha, Kaitlin E ^a,b   Karczewski, Konrad J ^a,b   DePalma, Steven R ^a,g   McKean, David ^a   Wakimoto, Hiroko ^a   Gorham, Josh ^a   Jin, Sheng Chih ^c   Deanfield, John ^h   Giardini, Alessandro ^h   Porter, George A ⁱ   Kim, Richard ^j   Bilguvar, Kaya ^c   López Giráldez, Francesc ^c   Tikhonova, Irina ^c   Mane, Shrikant ^c   Romano Adesman, Angela ^k   Qi, Hongjian ^d,l   Vardarajan, Badri ^d   Ma, Lijiang ^d   Daly, Mark ^a,b   Roberts, Amy E ^m   Russell, Mark W ⁿ   Mital, Seema ^o   Newburger, Jane W ^m   Gaynor, J William ^p   Breitbart, Roger E ^m   Iossifov, Ivan ^q   Ronemus, Michael ^q   Sanders, Stephan J ^r   Kaltman, Jonathan R ^s   Seidman, Jonathan G ^a   Brueckner, Martina ^c   Gelb, Bruce D ^t   Goldmuntz, Elizabeth ^p,u   Lifton, Richard P ^c,v   Seidman, Christine E ^a,g   Chung, Wendy K ^d   more..

^a HARVARD MEDICAL SCHOOL   (United States)

^b MASSACHUSETTS GENERAL HOSPITAL   (United States)

^c YALE UNIVERSITY SCHOOL OF MEDICINE   (United States)

^d NewYork Presbyterian Hospital   (United States)

^e ROYAL BROMPTON AND HAREFIELD NHS FOUNDATION TRUST   (United Kingdom)

^f NATIONAL HEART AND LUNG INSTITUTE   (United Kingdom)

^g HARVARD UNIVERSITY   (United States)

^h UNIVERSITY COLLEGE LONDON   (United Kingdom)

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

^j UNIVERSITY OF SOUTHERN CALIFORNIA   (United States)

^k Northwell Health   (United States)

^l Columbia University ^*  (United States)

^m BOSTON CHILDREN S HOSPITAL   (United States)

ⁿ UNIVERSITY OF MICHIGAN MEDICAL SCHOOL   (United States)

^o HOSPITAL FOR SICK CHILDREN   (Canada)

^p CHILDREN S HOSPITAL OF PHILADELPHIA   (United States)

^q Howard Hughes Medical Institute Cold Spring Harbor Laboratory Cold Spring Harbor   (United States)

^r UNIVERSITY OF CALIFORNIA   (United States)

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

^t MOUNT SINAI SCHOOL OF MEDICINE   (United States)

^u UNIVERSITY OF PENNSYLVANIA   (United States)

^v YALE UNIVERSITY   (United States)

more..

Author keywords

[No Author keywords available]

Indexed keywords

MESSENGER RNA; RBFOX2 PROTEIN, HUMAN; REPRESSOR PROTEIN; RNA BINDING PROTEIN;

BRAIN; CARDIOVASCULAR DISEASE; CHROMOSOME; DISABILITY; DISEASE PREVALENCE; GENE EXPRESSION; HEALTH RISK; MORPHOGENESIS; MUTATION; PROTEIN;

ARTICLE; BRAIN; CHROMATIN; CONGENITAL HEART DISEASE; CONGENITAL MALFORMATION; CONTROLLED STUDY; DEVELOPMENTAL DISORDER; EXOME; GENE; GENE EXPRESSION; GENE MUTATION; GENE SEQUENCE; GENETIC ASSOCIATION; HEART; HUMAN; MORPHOGENESIS; NEURODEVELOPMENTAL DISABILITY; NEUROLOGIC DISEASE; PARENT; PHENOTYPE; PREVALENCE; PRIORITY JOURNAL; PROGENY; RBFOX2 GENE; RNA SPLICING; TRANSCRIPTION REGULATION; CHILD; CONGENITAL DISORDER; GENETIC TRANSCRIPTION; GENETICS; HEART DEFECTS, CONGENITAL; METABOLISM; MUTATION; NERVOUS SYSTEM DEVELOPMENT; NERVOUS SYSTEM MALFORMATION; PROGNOSIS;

BRAIN; CHILD; CONGENITAL ABNORMALITIES; EXOME; HEART DEFECTS, CONGENITAL; HUMANS; MUTATION; NERVOUS SYSTEM MALFORMATIONS; NEUROGENESIS; PROGNOSIS; REPRESSOR PROTEINS; RNA SPLICING; RNA, MESSENGER; RNA-BINDING PROTEINS; TRANSCRIPTION, GENETIC;

EID: 84949008129     PISSN: 00368075     EISSN: 10959203     Source Type: Journal    
DOI: 10.1126/science.aac9396     Document Type: Article

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