Autosomal recessive cataract (CTRCT18) in the Yakut population isolate of Eastern Siberia: a novel founder variant in the FYCO1 gene

Lanosterol reverses protein aggregation in cataracts

Ling Zhao, Xiangjun Chen, Jie Zhu et al. · Nature · 2015 · 439 citations

Protein Function, Oxysterol, Biochemistry +5

Genetic analysis of idiopathic torsion dystonia in Ashkenazi Jews and their recent descent from a small founder population

Neil Risch, Deborah de Leon, Laurie J. Ozelius et al. · Nature Genetics · 1995 · 430 citations

Genetic Analysis, Genetic Disorder, Ashkenazi Jews +2

Cat-Map: putting cataract on the map.

Alan Shiels, Thomas M. Bennett, J. Fielding Hejtmancik · PubMed · 2010 · 266 citations · Full text

Genetics, Genetic Epidemiology, Mendelian Disorder +16

Measuring the strength of associations between HLA antigens and diseases

Bengt Bengtsson, Glenys Thomson · Tissue Antigens · 1981 · 239 citations

Mutations in the RNA Granule Component TDRD7 Cause Cataract and Glaucoma

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