P369: Clinical genome sequencing in the neurodevelopmental clinic: A single center experience
A growing number of genes are associated with neurodevelopmental disorders and highlight the overlapping genetic architecture of autism spectrum disorder (ASD) and intellectual disability (ID). Children with ASD are often identified first by psychologists or neurologists and the extent of genetic testing or genetics referral is variable. Applying clinical genome sequencing (cGS) has the potential to circumvent the diagnostic odyssey through timely molecular diagnosis. Here we report the findings of a prospective study of the diagnostic efficacy and utility of cGS in a clinical ASD cohort.
Authors
- Themba Carr
- Atul Jindal (ORCID: https://orcid.org/0000-0002-0504-1077)
- Edwin F. Juarez (ORCID: https://orcid.org/0000-0003-1062-3642)
- Kristen M. Wigby (ORCID: https://orcid.org/0000-0001-8952-3534)
- Viridiana Murillo
- Matthew Bainbridge (ORCID: https://orcid.org/0000-0003-3193-3471)
- Jennifer Friedman (ORCID: https://orcid.org/0000-0002-3188-3788)
- Jerica Lenberg
- Lauren Gist
Institutions
- Children’s Institute (US)
- Rady Children's Hospital-San Diego (US)
- Universidad Católica Santo Domingo (DO)
Publication Details
- Journal
- Genetics in Medicine Open
- Published
- 2025-01-01
- DOI
- https://doi.org/10.1016/j.gimo.2025.102334
- Primary Topic
- Genomics and Rare Diseases
- Type
- article
- Field-Weighted Citation Impact
- 0.00