Adva Kimchi

Jerusalem, JM, Israel

Last Updated: 09/26/2026

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Found 13 publications

Progressive Visual Loss Without Retinal Detachment in Stickler Syndrome: An Uncommon and Novel Presentation.

Progressive Visual Loss Without Retinal Detachment in Stickler Syndrome: An Uncommon and Novel Presentation.

Journal: Turkish journal of ophthalmology
Published: January 04, 2021

Variable phenotype of Knobloch syndrome due to biallelic COL18A1 mutations in children.

Variable phenotype of Knobloch syndrome due to biallelic COL18A1 mutations in children.

Journal: European journal of ophthalmology
Published: November 26, 2020

Heterozygous deletions of noncoding parts of the PRPF31 gene cause retinitis pigmentosa via reduced gene expression.

Heterozygous deletions of noncoding parts of the PRPF31 gene cause retinitis pigmentosa via reduced gene expression.

Journal: Molecular vision
Published: July 29, 2020

An Ashkenazi Jewish founder mutation in CACNA1F causes retinal phenotype in both hemizygous males and heterozygous female carriers.

An Ashkenazi Jewish founder mutation in CACNA1F causes retinal phenotype in both hemizygous males and heterozygous female carriers.

Journal: Ophthalmic genetics
Published: October 26, 2019

Carrier frequency analysis of mutations causing autosomal-recessive-inherited retinal diseases in the Israeli population.

Carrier frequency analysis of mutations causing autosomal-recessive-inherited retinal diseases in the Israeli population.

Journal: European journal of human genetics : EJHG
Published: January 16, 2018

Nonsyndromic Retinitis Pigmentosa in the Ashkenazi Jewish Population: Genetic and Clinical Aspects.

Nonsyndromic Retinitis Pigmentosa in the Ashkenazi Jewish Population: Genetic and Clinical Aspects.

Journal: Ophthalmology
Published: October 02, 2017

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

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

Journal: Ophthalmology
Published: December 09, 2016

OR2W3 sequence variants are unlikely to cause inherited retinal diseases.

OR2W3 sequence variants are unlikely to cause inherited retinal diseases.

Journal: Ophthalmic genetics
Published: February 19, 2016

A missense mutation in ASRGL1 is involved in causing autosomal recessive retinal degeneration.

A missense mutation in ASRGL1 is involved in causing autosomal recessive retinal degeneration.

Journal: Human molecular genetics
Published: January 28, 2016

Mutations in POMGNT1 cause non-syndromic retinitis pigmentosa.

Mutations in POMGNT1 cause non-syndromic retinitis pigmentosa.

Journal: Human molecular genetics
Published: October 29, 2015

Nonsyndromic Early-Onset Cone-Rod Dystrophy and Limb-Girdle Muscular Dystrophy in a Consanguineous Israeli Family are Caused by Two Independent yet Linked Mutations in ALMS1 and DYSF.

Nonsyndromic Early-Onset Cone-Rod Dystrophy and Limb-Girdle Muscular Dystrophy in a Consanguineous Israeli Family are Caused by Two Independent yet Linked Mutations in ALMS1 and DYSF.

Journal: Human mutation
Published: April 22, 2015

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

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

Journal: Scientific reports
Published: March 13, 2015
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Last Updated: 09/26/2026