Clinical manifestations of chromosome 19p13.11 duplication
This is the first comprehensive clinical and molecular characterisation of 19p13.11 duplications, suggesting a recurring multisystem phenotype driven by gene dosage sensitivity. These findings support the inclusion of 19p13.11 duplications in diagnostic evaluations for neurodevelopmental and multisystem disorders.
Authors
- Scott C. Smith (ORCID: https://orcid.org/0000-0003-2938-6202)
- Claire A. Boring
- Dibyendu Dutta (ORCID: https://orcid.org/0009-0003-8537-2515)
- Abdulrazak Alali
- Ria Garg (ORCID: https://orcid.org/0000-0003-3980-4981)
- Kristina Peron
- Megan Keeney
- Nicole Matthews
- Bobbi McGivern
- Ariel F Martinez
Institutions
- West Virginia University (US)
- SUNY Upstate Medical University (US)
- East Tennessee Children's Hospital (US)
Publication Details
- Journal
- Journal of Medical Genetics
- Published
- 2026-01-16
- DOI
- https://doi.org/10.1136/jmg-2025-111154
- Primary Topic
- Genomic variations and chromosomal abnormalities
- Type
- article
- Field-Weighted Citation Impact
- 0.00