Tamar Yosef-Ben

Haifa, HA 31096, Israel

Last Updated: 09/26/2026

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Found 70 publications

Characterization of Ocular Developmental Disorders in the Israeli Population: Genotype-Phenotype Correlations and Novel Candidate Genes.

Characterization of Ocular Developmental Disorders in the Israeli Population: Genotype-Phenotype Correlations and Novel Candidate Genes.

Journal: Biomolecules

Published: July 29, 2026

Missense variants in KATNA1 alter microtubule dynamics and underlie dominant macular dystrophy.

Missense variants in KATNA1 alter microtubule dynamics and underlie dominant macular dystrophy.

Journal: Research square

Published: July 17, 2026

The AP5B1 p.(Leu785Pro) variant is a frequent cause of late-onset macular dystrophy with variable extraocular manifestations.

The AP5B1 p.(Leu785Pro) variant is a frequent cause of late-onset macular dystrophy with variable extraocular manifestations.

Journal: HGG advances

Published: June 23, 2026

The AP5B1 p.Leu785Pro variant is a frequent cause of late-onset macular dystrophy with variable extraocular manifestations.

The AP5B1 p.Leu785Pro variant is a frequent cause of late-onset macular dystrophy with variable extraocular manifestations.

Journal: HGG advances

Published: June 23, 2026

The Genetic Landscape of Inherited Retinal Diseases in the Israeli Population.

The Genetic Landscape of Inherited Retinal Diseases in the Israeli Population.

Journal: Investigative ophthalmology & visual science

Published: April 13, 2026

Idiopathic Acute Exudative Polymorphous Vitelliform Maculopathy - Case Series and Extended Features.

Idiopathic Acute Exudative Polymorphous Vitelliform Maculopathy - Case Series and Extended Features.

Journal: Retinal cases & brief reports

Published: July 25, 2025

Founder Homozygous Nonsense CREB3 Variant and Variable-Onset Retinal Degeneration.

Founder Homozygous Nonsense CREB3 Variant and Variable-Onset Retinal Degeneration.

Journal: JAMA ophthalmology

Published: July 17, 2025

De novo and inherited dominant variants in U4 and U6 snRNA genes cause retinitis pigmentosa.

De novo and inherited dominant variants in U4 and U6 snRNA genes cause retinitis pigmentosa.

Journal: Nature genetics

Published: June 02, 2025

Phenotypic and Genotypic Characterization of 171 Patients with Syndromic Inherited Retinal Diseases Highlights the Importance of Genetic Testing for Accurate Clinical Diagnosis.

Phenotypic and Genotypic Characterization of 171 Patients with Syndromic Inherited Retinal Diseases Highlights the Importance of Genetic Testing for Accurate Clinical Diagnosis.

Journal: Genes

Published: May 25, 2025

Loss-of-function variants in SAXO6, encoding a microtubule inner protein of photoreceptor cilia, cause a late-onset retinal dystrophy.

Loss-of-function variants in SAXO6, encoding a microtubule inner protein of photoreceptor cilia, cause a late-onset retinal dystrophy.

Journal: American journal of human genetics

Published: April 01, 2025

De novo and inherited dominant variants in U4 and U6 snRNAs cause retinitis pigmentosa.

De novo and inherited dominant variants in U4 and U6 snRNAs cause retinitis pigmentosa.

Journal: medRxiv : the preprint server for health sciences

Published: January 20, 2025

Bi-allelic variants in three genes encoding distinct subunits of the vesicular AP-5 complex cause hereditary macular dystrophy.

Bi-allelic variants in three genes encoding distinct subunits of the vesicular AP-5 complex cause hereditary macular dystrophy.

Journal: American journal of human genetics

Published: September 12, 2024

Showing 1-12 of 70

Last Updated: 09/26/2026