Targeted next-generation sequencing identifies pathogenic variants in familial congenital heart disease

Journal of the American College of Cardiology

Volumn 64, Issue 23, 2014, Pages 2498-2506

  Blue, Gillian M ^a,b   Kirk, Edwin P ^c,d   Giannoulatou, Eleni ^d,e   Dunwoodie, Sally L ^d,e   Ho, Joshua W K ^d,e   Hilton, Desiree C K ^a   White, Susan M ^f,g   Sholler, Gary F ^a,b   Harvey, Richard P ^d,e   Winlaw, David S ^a,b  

^a CHILDREN S HOSPITAL AT WESTMEAD   (Australia)

^b UNIVERSITY OF SYDNEY   (Australia)

^c SYDNEY CHILDREN'S HOSPITAL   (Australia)

^d UNIVERSITY OF NEW SOUTH WALES   (Australia)

^e VICTOR CHANG CARDIAC RESEARCH INSTITUTE   (Australia)

^f ROYAL CHILDREN'S HOSPITAL   (Australia)

^g UNIVERSITY OF MELBOURNE   (Australia)

Author keywords

Congenital heart defects; Gene panel; Molecular diagnosis

Indexed keywords

ELASTIN; GENOMIC DNA; NOTCH1 RECEPTOR; TRANSCRIPTION FACTOR TBX5;

ARTICLE; CLINICAL ARTICLE; COHORT ANALYSIS; COMPUTER MODEL; CONGENITAL HEART DISEASE; CONTROLLED STUDY; DNA SPLICING; ELN GENE; FAMILIAL DISEASE; FEMALE; GENE FREQUENCY; GENETIC DATABASE; GENETIC SCREENING; GENETIC VARIABILITY; HUMAN; INDEL MUTATION; MALE; MOLECULAR DIAGNOSIS; NEXT GENERATION SEQUENCING; NONSENSE MUTATION; NOTCH1 GENE; PHENOTYPE; PREDICTION; PRIORITY JOURNAL; R25C GENE; RECURRENCE RISK; SEGREGATION ANALYSIS; TBX5 GENE; CASE CONTROL STUDY; CONGENITAL HEART MALFORMATION; DNA SEQUENCE; EXOME; GENETIC PREDISPOSITION; GENETICS; HIGH THROUGHPUT SEQUENCING; PEDIGREE; SINGLE NUCLEOTIDE POLYMORPHISM; STATISTICAL MODEL;

CASE-CONTROL STUDIES; EXOME; GENE FREQUENCY; GENETIC PREDISPOSITION TO DISEASE; HEART DEFECTS, CONGENITAL; HIGH-THROUGHPUT NUCLEOTIDE SEQUENCING; HUMANS; LINEAR MODELS; PEDIGREE; POLYMORPHISM, SINGLE NUCLEOTIDE; SEQUENCE ANALYSIS, DNA;

EID: 84926339009     PISSN: 07351097     EISSN: 15583597     Source Type: Journal    
DOI: 10.1016/j.jacc.2014.09.048     Document Type: Article

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