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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

Compound heterozygous (CH) genotypes represent an established biallelic autosomal-recessive mechanism in early-onset Parkinson’s disease (EOPD), whereas digenic inheritance (DI) has been proposed for variant combinations across two genes but is more difficult to establish. We systematically evaluated the genetic ar...

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

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