Ciliopathy variant burden and developmental delay in children with hypoplastic left heart syndrome.

Gabrielle C GeddesKarl D StammMichael MitchellKathleen A MussattoAoy Tomita-Mitchell

Published in: Genetics in medicine : official journal of the American College of Medical Genetics (2016)

Genetically complex disorders such as ciliopathies can be assessed to determine phenotypic risk with summative C-score in appropriately chosen gene sets. If these results are replicated in subsequent cohorts, a diagnostic gene panel could identify risk for developmental delay and other ciliopathy-related comorbidities in infants with congenital heart disease.Genet Med advance online publication 27 October 2016Genetics in Medicine (2016); doi:10.1038/gim.2016.167.

Keyphrases

copy number
genome wide
heart failure
young adults
social media
risk factors
health information