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Author

N. Almontashiri

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Open access Oct 2026

Bi-allelic UQCC1 variants impair mitochondrial complex III assembly causing early-onset mitochondrial disease

Mitochondrial disease arises from variants in either the mitochondrial or nuclear genome that impair mitochondrial oxidative phosphorylation. Complex III (ubiquinol:cytochrome c oxidoreductase, CIII2) is a key enzyme of the mitochondrial respiratory chain, catalyzing electron transfer from reduced coenzyme Q10 (ubiquin...

R. W. Taylor, S. Smith, S. Saadi et al. · 0 citations
Open access Sep 2026

De novo start-loss mutation in PHYKPL associated with a novel sclerosing and fibro-osseous bone dysplasia

A novel, de novo start-loss mutation in the PHYKPL gene (NM_153373.4:c.2T>C (p.?) was identified in a patient with fibro-osseous bone dysplasia, introducing a novel candidate gene-disease association that warrants future confirmatory studies to define its role in skeletal metabolic matrix health.

Naif A. M. Almontashiri · 0 citations
Review Open access Aug 2026

Approaches to solving undiagnosed rare genetic diseases in consanguineous populations

This review evaluates the global and regional burdens of undiagnosed rare genetic diseases and outlines a strategic, multi-omics functional workflow tailored to address complex, hidden variants in the highly consanguineous population of Saudi Arabia.

Naif A. M. Almontashiri · 1 citation

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