Chromosome microarray testing for patients with congenital heart defects reveals novel disease causing loci and high diagnostic yield

BMC Genomics

Volumn 15, Issue 1, 2014, Pages

  Geng, Juan ^a,b   Picker, Jonathan ^b   Zheng, Zhaojing ^a   Zhang, Xiaoqing ^a   Wang, Jian ^a,b   Hisama, Fuki ^b,d   Brown, David W ^b   Mullen, Mary P ^b   Harris, David ^b   Stoler, Joan ^b   Seman, Ann ^b,c   Miller, David T ^b   Fu, Qihua ^a   Roberts, Amy E ^b   Shen, Yiping ^a,b,c  

^a SHANGHAI JIAO TONG UNIVERSITY SCHOOL OF MEDICINE   (China)

^b BOSTON CHILDREN S HOSPITAL   (United States)

^c Boston Children's Hospital Division of Genetics ^*  (United States)

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

Author keywords

Chromosomal microarray analysis; Congenital heart defects; Copy number variant; Diagnostic yield

Indexed keywords

ARTICLE; CHILD; CHROMOSOMAL MICROARRAY; CHROMOSOME ANALYSIS; CONGENITAL HEART MALFORMATION; CONTROLLED STUDY; COPY NUMBER VARIATION; DIAGNOSTIC VALUE; FEMALE; GENE IDENTIFICATION; GENE LOCUS; GENETIC ASSOCIATION; GENETIC SCREENING; GENOTYPE PHENOTYPE CORRELATION; HUMAN; MAJOR CLINICAL STUDY; MALE; MICROARRAY ANALYSIS; MONOSOMY X; PARTIAL TRISOMY; PRESCHOOL CHILD; RETROSPECTIVE STUDY; SCHOOL CHILD; TRISOMY 18; TRISOMY 21; ADOLESCENT; CHROMOSOME ABERRATION; CHROMOSOME MAP; COMPARATIVE GENOMIC HYBRIDIZATION; GENE FREQUENCY; GENETICS; HEART DEFECTS, CONGENITAL; INFANT; PHENOTYPE; QUANTITATIVE TRAIT LOCUS;

ADOLESCENT; CHILD; CHILD, PRESCHOOL; CHROMOSOME ABERRATIONS; CHROMOSOME MAPPING; COMPARATIVE GENOMIC HYBRIDIZATION; DNA COPY NUMBER VARIATIONS; FEMALE; GENE FREQUENCY; GENETIC ASSOCIATION STUDIES; HEART DEFECTS, CONGENITAL; HUMANS; INFANT; MALE; PHENOTYPE; QUANTITATIVE TRAIT LOCI;

EID: 84925689196     PISSN: None     EISSN: 14712164     Source Type: Journal    
DOI: 10.1186/1471-2164-15-1127     Document Type: Article

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