Mingma Sherpa

Biallelic Mutations in MRPS34 Lead to Instability of the Small Mitoribosomal Subunit and Leigh Syndrome

The American Journal of Human Genetics · 2017 · 92 citations

Heterozygous Pathogenic Variant in DACT1 Causes an Autosomal-Dominant Syndrome with Features Overlapping Townes-Brocks Syndrome

Human Mutation · 2017 · 20 citations