Dysmorphology-Based Prediction Model for Genetic Disorders in Infants With Congenital Heart Disease
The dysmorphology score is a novel screen for patients with CHD at high risk of having genetic diagnoses identified by genetic testing, including disorders not easily recognized by clinicians. We used these results to develop predicted probability plots for genetic diagnoses in patients with CHD.
Authors
- Stephanie M. Ware (ORCID: https://orcid.org/0000-0003-4714-0142)
- Benjamin M. Helm (ORCID: https://orcid.org/0000-0002-5597-0202)
- Benjamin J. Landis (ORCID: https://orcid.org/0000-0001-5837-8581)
- Leah Flury Wetherill (ORCID: https://orcid.org/0000-0003-2888-9051)
Institutions
- Richard M. Fairbanks Foundation (US)
- Indiana University – Purdue University Indianapolis (US)
Publication Details
- Journal
- Circulation Genomic and Precision Medicine
- Published
- 2025-03-28
- DOI
- https://doi.org/10.1161/circgen.124.004895
- Citations
- 2
- Primary Topic
- Congenital Heart Disease Studies
- Type
- article
- Field-Weighted Citation Impact
- 2.71