Diagnostic yield of exome and genome sequencing for critically ill pediatric cardiac patients
ES and GS provided high diagnostic yield in critically ill cardiac patients across various phenotypes. As next-generation sequencing technologies and interpretation capabilities mature, diagnostic abilities in pediatric cardiac disease will continue to advance.
Authors
- Rachel Gosselin (ORCID: https://orcid.org/0000-0002-4811-7916)
- Amee M. Bigelow (ORCID: https://orcid.org/0000-0003-1606-9144)
- Angela Onorato
- Peter White
- Chance Alvarado (ORCID: https://orcid.org/0000-0001-7266-6344)
- Vidu Garg
- Bimal P. Chaudhari
Institutions
- Nationwide Children's Hospital (US)
- The Ohio State University Wexner Medical Center (US)
- The Ohio State University (US)
Publication Details
- Journal
- Translational Pediatrics
- Published
- 2026-02-01
- DOI
- https://doi.org/10.21037/tp-2025-1-877
- Primary Topic
- Genomics and Rare Diseases
- Type
- article
- Field-Weighted Citation Impact
- 0.00
Funders
- American Heart Association
- Ohio State University
- National Institutes of Health
- National Center for Advancing Translational Sciences