Author

C. Gonzaga-Jauregui

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Review Open access Oct 2026

Compound heterozygous and digenic inheritance in early-onset Parkinson’s disease: a systematic review

These findings support comprehensive detection of structural and sequence variants while highlighting the need for segregation, functional, and replication evidence to distinguish causal DI from modifier effects or coincidental variant co-occurrence.

V. Flores-Ocampo, G. Sevilla-Parra, Fang-Yuan Cao et al. · Frontiers in Aging Neuroscie... · 0 citations

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