Adva Kimchi
Hebrew University of Jerusalem(IL)Hadassah Medical Center(IL)
Publications by Year
Research Areas
Retinal Development and Disorders, Retinal Diseases and Treatments, RNA regulation and disease, melanin and skin pigmentation, Cellular transport and secretion
Most-Cited Works
- → Whole Exome Sequencing Reveals Mutations in Known Retinal Disease Genes in 33 out of 68 Israeli Families with Inherited Retinopathies(2015)79 cited
- → Mutations inPOMGNT1cause non-syndromic retinitis pigmentosa(2016)47 cited
- → Whole-Exome Sequencing Identifies Biallelic IDH3A Variants as a Cause of Retinitis Pigmentosa Accompanied by Pseudocoloboma(2017)47 cited
- → Nonsyndromic Retinitis Pigmentosa in the Ashkenazi Jewish Population(2017)39 cited
- → Whole Exome Sequencing Reveals GUCY2D as a Major Gene Associated With Cone and Cone-Rod Dystrophy in Israel(2014)34 cited
- → Nonsyndromic Early-Onset Cone-Rod Dystrophy and Limb-Girdle Muscular Dystrophy in a Consanguineous Israeli Family are Caused by Two Independent yet Linked Mutations inALMS1andDYSF(2015)28 cited
- → Carrier frequency analysis of mutations causing autosomal-recessive-inherited retinal diseases in the Israeli population(2018)21 cited
- → A missense mutation inASRGL1is involved in causing autosomal recessive retinal degeneration(2016)19 cited
- → OR2W3 sequence variants are unlikely to cause inherited retinal diseases(2016)15 cited
- → Heterozygous deletions of noncoding parts of the PRPF31 gene cause retinitis pigmentosa via reduced gene expression(2021)13 cited