The diagnostic value of next generation sequencing in familial nonsyndromic congenital heart defects

American Journal of Medical Genetics, Part A

Volumn 167, Issue 8, 2015, Pages 1822-1829

  Jia, Yaojuan ^a   Louw, Jacoba J ^a,b   Breckpot, Jeroen ^a,b   Callewaert, Bert ^c   Barrea, Catherine ^d   Sznajer, Yves ^d   Gewillig, Marc ^b   Souche, Erika ^a   Dehaspe, Luc ^a   Vermeesch, Joris Robert ^a   Lambrechts, Diether ^a,e   Devriendt, Koenraad ^a   Corveleyn, Anniek ^a  

^a UNIVERSITY OF LEUVEN   (Belgium)

^b UNIVERSITY HOSPITALS LEUVEN   (Belgium)

^c GHENT UNIVERSITY HOSPITAL   (Belgium)

^d UNIVERSITÉ CATHOLIQUE DE LOUVAIN   (Belgium)

^e DEPARTMENT OF PLANT SYSTEMS BIOLOGY   (Belgium)

Author keywords

Congenital heart defects; Genetic testing; Massive parallel sequencing

Indexed keywords

NOTCH1 RECEPTOR;

ARTICLE; AUTOSOMAL DOMINANT INHERITANCE; CLINICAL ARTICLE; CONGENITAL HEART MALFORMATION; DIAGNOSTIC VALUE; FAMILY ASSESSMENT; FEMALE; GENE; GENE EXPRESSION; GENE IDENTIFICATION; GENE MUTATION; GENE SEQUENCE; GENETIC CODE; GENETIC HETEROGENEITY; GENETIC SCREENING; GENETIC VARIABILITY; GENOTYPE PHENOTYPE CORRELATION; HEART ATRIUM SEPTUM DEFECT; HEART LEFT VENTRICLE OUTFLOW TRACT OBSTRUCTION; HEART RIGHT VENTRICLE DOUBLE OUTLET; HEART VENTRICLE SEPTUM DEFECT; HUMAN; HYPOPLASTIC LEFT HEART SYNDROME; MALE; MYH6 GENE; NEXT GENERATION SEQUENCING; NOTCH1 GENE; PEDIGREE ANALYSIS; PRIORITY JOURNAL; PROMOTER REGION; PULMONARY VALVE STENOSIS; TBX5 GENE; GENETICS; HEART DEFECTS, CONGENITAL; PEDIGREE;

FEMALE; HEART DEFECTS, CONGENITAL; HUMANS; MALE; PEDIGREE;

EID: 84937975584     PISSN: 15524825     EISSN: 15524833     Source Type: Journal    
DOI: 10.1002/ajmg.a.37108     Document Type: Article

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