Diagnostic and clinical utility of exome sequencing and chromosomal microarray in children with GDD/iD: a meta-analysis
In children with unexplained GDD/ID, WES demonstrates superior diagnostic and clinical utility compared to CMA. Incorporating WES as a first-line investigation in the diagnostic evaluation of GDD/ID may be warranted.
Authors
- Manit Srisurapanont (ORCID: https://orcid.org/0000-0001-6203-1206)
- Narueporn Likhitweerawong (ORCID: https://orcid.org/0000-0002-1175-0021)
- Nonglak Boonchooduang (ORCID: https://orcid.org/0000-0001-9163-2916)
- Orawan Louthrenoo (ORCID: https://orcid.org/0000-0002-7728-1117)
- Maliwan Tengsujaritkul
Institutions
- Chiang Mai University (TH)
Publication Details
- Journal
- Annals of Medicine
- Published
- 2025-12-30
- DOI
- https://doi.org/10.1080/07853890.2025.2609424
- Primary Topic
- Genomics and Rare Diseases
- Type
- article
- Field-Weighted Citation Impact
- 0.00