Utilization of Whole Exome Sequencing to Identify Causative Mutations in Familial Congenital Heart Disease

Circulation: Cardiovascular Genetics

Volumn 9, Issue 4, 2016, Pages 320-329

  Lahaye, Stephanie ^a,b,d   Corsmeier, Don ^c   Basu, Madhumita ^a,b   Bowman, Jessica L ^b,e   Fitzgerald Butt, Sara ^a,b,e   Zender, Gloria ^a   Bosse, Kevin ^a   McBride, Kim L ^a,b,e   White, Peter ^c,e   Garg, Vidu ^a,b,d,e  

^a Research Institute   (United States)

^b Witebsky Center for Microbial Pathogenesis   (United States)

^c NATIONWIDE CHILDREN S HOSPITAL   (United States)

^d Department of Molecular Genetics ^*  (United States)

^e OHIO STATE UNIVERSITY   (United States)

Author keywords

ductus arteriosus, patent; exome; genetic testing; heart septal defects, atrial; tetralogy of Fallot

Indexed keywords

GENOMIC DNA; MESSENGER RNA; MYOSIN HEAVY CHAIN; MYOSIN HEAVY CHAIN 11; PEPTIDASE; TOLLOID LIKE 1 PROTEIN; TRANSCRIPTION FACTOR GATA 4; UNCLASSIFIED DRUG; GATA4 PROTEIN, HUMAN; GENETIC MARKER; MYH11 PROTEIN, HUMAN; TLL1 PROTEIN, HUMAN; TOLLOID METALLOPROTEINASE;

ADOLESCENT; ARTICLE; CHILD; CLINICAL ARTICLE; COMPUTER MODEL; CONGENITAL HEART DISEASE; ENZYME ACTIVITY; EXOME; FALLOT TETRALOGY; FAMILIAL DISEASE; FEMALE; GENE EXPRESSION; GENE FREQUENCY; GENE IDENTIFICATION; GENE MUTATION; GENE SEQUENCE; GENETIC VARIABILITY; HEART ATRIUM SEPTUM DEFECT; HELA CELL LINE; HUMAN; HUMAN CELL; MOLECULAR PATHOLOGY; PATENT DUCTUS ARTERIOSUS; PRIORITY JOURNAL; PULMONARY VALVE DISEASE; PULMONARY VALVE DYSPLASIA; RNA SPLICING; SINGLE NUCLEOTIDE POLYMORPHISM; TRANSACTIVATION; WHOLE EXOME SEQUENCING; BIOLOGICAL MODEL; CELL CULTURE; COMPUTER SIMULATION; DNA MUTATIONAL ANALYSIS; DUCTUS ARTERIOSUS, PATENT; GENETIC DATABASE; GENETIC MARKER; GENETIC PREDISPOSITION; GENETICS; GENOME-WIDE ASSOCIATION STUDY; HEART DEFECTS, CONGENITAL; HEART SEPTAL DEFECTS, ATRIAL; HEREDITY; HIGH THROUGHPUT SEQUENCING; INFANT; MALE; MUTATION; MUTATION RATE; PEDIGREE; PHENOTYPE; PRESCHOOL CHILD; PROCEDURES; RISK FACTOR; TETRALOGY OF FALLOT;

ADOLESCENT; CELLS, CULTURED; CHILD; CHILD, PRESCHOOL; COMPUTER SIMULATION; DATABASES, GENETIC; DNA MUTATIONAL ANALYSIS; DUCTUS ARTERIOSUS, PATENT; EXOME; FEMALE; GATA4 TRANSCRIPTION FACTOR; GENE FREQUENCY; GENETIC MARKERS; GENETIC PREDISPOSITION TO DISEASE; GENOME-WIDE ASSOCIATION STUDY; HEART DEFECTS, CONGENITAL; HEART SEPTAL DEFECTS, ATRIAL; HEREDITY; HIGH-THROUGHPUT NUCLEOTIDE SEQUENCING; HUMANS; INFANT; MALE; MODELS, GENETIC; MUTATION; MUTATION RATE; MYOSIN HEAVY CHAINS; PEDIGREE; PHENOTYPE; RISK FACTORS; TETRALOGY OF FALLOT; TOLLOID-LIKE METALLOPROTEINASES;

EID: 84982263920     PISSN: 1942325X     EISSN: 19423268     Source Type: Journal    
DOI: 10.1161/CIRCGENETICS.115.001324     Document Type: Article

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