Burden of potentially pathologic copy number variants is higher in children with isolated congenital heart disease and significantly impairs covariate-adjusted transplant-free survival

Journal of Thoracic and Cardiovascular Surgery

Volumn 151, Issue 4, 2016, Pages 1147-1151.e4

  Kim, Daniel Seung ^a,b   Kim, Jerry H ^b   Burt, Amber A ^a   Crosslin, David R ^a,b   Burnham, Nancy ^c   Kim, Cecilia E ^c   McDonald Mcginn, Donna M ^c   Zackai, Elaine H ^c   Nicolson, Susan C ^c   Spray, Thomas L ^c   Stanaway, Ian B ^b   Nickerson, Deborah A ^b   Heagerty, Patrick J ^b   Hakonarson, Hakon ^c   Gaynor, J William ^c   Jarvik, Gail P ^a,b  

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

^b UNIVERSITY OF WASHINGTON   (United States)

^c CHILDREN S HOSPITAL OF PHILADELPHIA   (United States)

Author keywords

congenital heart disease; copy number variation; genetics; survival

Indexed keywords

BLOOD SAMPLING; CONFERENCE PAPER; CONGENITAL HEART DISEASE; CONTROLLED STUDY; COPY NUMBER VARIATION; ELECTRONIC MEDICAL RECORD; FEMALE; GENE FREQUENCY; GENOTYPING TECHNIQUE; GESTATIONAL AGE; HUMAN; MAJOR CLINICAL STUDY; MALE; MORBIDITY; MORTALITY; NEWBORN; ORAL BIOPSY; POLYMERASE CHAIN REACTION; PRIORITY JOURNAL; RISK ASSESSMENT; SURVIVAL; TRANSPLANT FREE SURVIVAL; CASE CONTROL STUDY; CHI SQUARE DISTRIBUTION; CHILD; DISEASE FREE SURVIVAL; ELECTRONIC HEALTH RECORD; GENE DOSAGE; GENETIC MARKER; GENETIC PREDISPOSITION; GENETICS; HEART DEFECTS, CONGENITAL; HEART TRANSPLANTATION; INFANT; KAPLAN MEIER METHOD; PHENOTYPE; PREDICTIVE VALUE; PRESCHOOL CHILD; PROPORTIONAL HAZARDS MODEL; PROSPECTIVE STUDY; RISK FACTOR; TIME FACTOR;

GENETIC MARKER;

CASE-CONTROL STUDIES; CHI-SQUARE DISTRIBUTION; CHILD; CHILD, PRESCHOOL; DISEASE-FREE SURVIVAL; DNA COPY NUMBER VARIATIONS; ELECTRONIC HEALTH RECORDS; FEMALE; GENE DOSAGE; GENETIC MARKERS; GENETIC PREDISPOSITION TO DISEASE; HEART DEFECTS, CONGENITAL; HEART TRANSPLANTATION; HUMANS; INFANT; KAPLAN-MEIER ESTIMATE; MALE; PHENOTYPE; POLYMERASE CHAIN REACTION; PREDICTIVE VALUE OF TESTS; PROPORTIONAL HAZARDS MODELS; PROSPECTIVE STUDIES; RISK FACTORS; TIME FACTORS;

EID: 84961154568     PISSN: 00225223     EISSN: 1097685X     Source Type: Journal    
DOI: 10.1016/j.jtcvs.2015.09.136     Document Type: Conference Paper

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