Associated Papers
Comparative analyses of disease-linked missense mutations in the RNA exosome modeled in budding yeast reveal distinct functional consequences in translation.
Sterrett MC et al.
Rna (new York, N.y.), 2025
Genetic disease risks of under-represented founder populations in New York City.
Isshiki M et al.
Plos Genetics, 2025
40554605 (PubMed )
Supplement: pgen.1011755.s006.xlsx › TableS2
Comparative analyses of disease-linked missense mutations in the RNA exosome modeled in budding yeast reveal distinct functional consequences in translation.
Sterrett MC et al.
Biorxiv : the Preprint Server for Biology, 2025
Genetic disease risks of under-represented founder populations in New York City.
Isshiki M et al.
Medrxiv : the Preprint Server for Health Sciences, 2024
39399040 (PubMed )
Supplement: media-1.xlsx › TableS2
Risk of sudden cardiac death in EXOSC5-related disease.
Calame DG et al.
American Journal of Medical Genetics. Part A, 2021
Biallelic variants in the RNA exosome gene EXOSC5 are associated with developmental delays, short stature, cerebellar hypoplasia and motor weakness.
Slavotinek A et al.
Human Molecular Genetics, 2020
Identification of disease-causing variants in the EXOSC gene family underlying autosomal recessive intellectual disability in Iranian families.
Beheshtian M et al.
Clinical Genetics, 2019
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