Author

Toni I. Pollin

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Jul 2026

Implementation of exome sequencing for rare undiagnosed diseases in LMICs: the G2MC rare diseases exome sequencing pilot project

The feasibility, effectiveness, and adaptability of implementing exome sequencing in resource-limited settings are demonstrated and its potential to transform rare disease diagnosis and care in low- and middle-income countries is highlighted.

Yasas D. Kolambage, C. Gonzaga-Jauregui, Guillermo Lay-Son et al. · Human Genetics · 0 citations

Open access Jul 2026

Clinical, cellular, and genomic consequences of a population-enriched SETD1A missense variant

Findings link a population-enriched missense variant to disrupted chromatin regulation, genome stability, and neurodevelopmental timing, bridging human genetic risk with cellular pathophysiology.

R. Lease, Rediet T. Oshone, Yumna Ahmed et al. · Research Square · 0 citations