Use of Clinical Exome Sequencing in Isolated Congenital Heart Disease

Circ Cardiovasc Genet. 2017 Jun;10(3):e001581. doi: 10.1161/CIRCGENETICS.116.001581.

Authors

Laura Zahavich¹, Sarah Bowdin¹, Seema Mital²

Affiliations

¹ From the Division of Cardiology, Department of Pediatrics, University of Toronto, Hospital for Sick Children, Toronto, Ontario, Canada.
² From the Division of Cardiology, Department of Pediatrics, University of Toronto, Hospital for Sick Children, Toronto, Ontario, Canada. seema.mital@sickkids.ca.

PMID: 28473349
DOI: 10.1161/CIRCGENETICS.116.001581

No abstract available

Publication types

Case Reports

MeSH terms

Exome / genetics
Exome Sequencing*
Fatal Outcome
Female
Genetic Variation
Heart Defects, Congenital / genetics*
Heterozygote
Humans
Infant
Infant, Newborn
Male
Models, Molecular
Pedigree
Pregnancy
Protein Domains
Receptor, Notch1 / chemistry
Receptor, Notch1 / genetics
Sequence Deletion

Substances

NOTCH1 protein, human
Receptor, Notch1