Adva Kimchi

Whole Exome Sequencing Reveals Mutations in Known Retinal Disease Genes in 33 out of 68 Israeli Families with Inherited Retinopathies

Avigail Beryozkin, Elia Shevah, Adva Kimchi et al. · Scientific Reports · 2015 · 78 citations · Full text

Mutations in<i>POMGNT1</i>cause non-syndromic retinitis pigmentosa

Mingchu Xu, Takeyuki Yamada, Zixi Sun et al. · Human Molecular Genetics · 2016 · 47 citations · Full text

Whole-Exome Sequencing Identifies Biallelic IDH3A Variants as a Cause of Retinitis Pigmentosa Accompanied by Pseudocoloboma

Laurence Pierrache, Adva Kimchi, Rinki Ratnapriya et al. · Ophthalmology · 2017 · 47 citations · Full text

Somatic Variant, Mendelian Disorder, Genetic Disorder +7

Nonsyndromic Retinitis Pigmentosa in the Ashkenazi Jewish Population

Adva Kimchi, Samer Khateb, Rong Wen et al. · Ophthalmology · 2017 · 39 citations

Ophthalmology, Pathogenesis, Ashkenazi Jewish Population +3

Whole Exome Sequencing Reveals GUCY2D as a Major Gene Associated With Cone and Cone-Rod Dystrophy in Israel

Csilla H. Lazar, Mousumi Mutsuddi, Adva Kimchi et al. · Investigative Ophthalmology & Visual Science · 2014 · 34 citations · Full text