Gain insight into research trends and influential papers with Research Intelligence.
doi.org/10.1038/s41436-020-0757-x

The Cardiac Genome Clinic: implementing genome sequencing in pediatric heart disease

..., Rebekah Jobling
16
Genetics in Medicine8.80
Volume: 22, Issue: 6, Pages: 1015 - 1024
Published: Jun 1, 2020
Abstract
PurposeThis study investigated the diagnostic utility of nontargeted genomic testing in patients with pediatric heart disease.MethodsWe analyzed genome sequencing data of 111 families with cardiac lesions for rare, disease-associated variation.ResultsIn 14 families (12.6%), we identified causative variants: seven were de novo (ANKRD11, KMT2D, NR2F2, POGZ, PTPN11, PURA, SALL1) and six were inherited from parents with no or subclinical heart...
Paper Fields
Paper Details
Title
The Cardiac Genome Clinic: implementing genome sequencing in pediatric heart disease
DOI
doi.org/10.1038/s41436-020-0757-x
Published Date
Jun 1, 2020
Journal
Genetics in Medicine
Volume
22
Issue
6
Pages
1015 - 1024
Citation AnalysisPro
  • Scinapse’s Top 10 Citation Journals & Affiliations graph reveals the quality and authenticity of citations received by a paper.
  • Discover whether citations have been inflated due to self-citations, or if citations include institutional bias.