Publications
Whole-exome sequencing revealed HKDC1 as a candidate gene associated with autosomal-recessive retinitis pigmentosa. Hum Mol Genet. 2018 ;27(23):4157-4168.
. The phenotypic variability of HK1-associated retinal dystrophy. Sci Rep. 2017 ;7(1):7051.
. Variants in SKP1, PROB1, and IL17B genes at keratoconus 5q31.1-q35.3 susceptibility locus identified by whole-exome sequencing. Eur J Hum Genet. 2017 ;25(1):73-78.
. A missense mutation in HK1 leads to autosomal dominant retinitis pigmentosa. Invest Ophthalmol Vis Sci. 2014 ;55(11):7159-64.
. Characterization of human genomic yeast artificial chromosome inserts containing hexokinase 1 coding information on chromosome 10. Biochem Med Metab Biol. 1992 ;47(3):265-9.
. Porin interaction with hexokinase and glycerol kinase: metabolic microcompartmentation at the outer mitochondrial membrane. Biochem Med Metab Biol. 1991 ;45(3):271-91.
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