Luzy Bahr

Schlieren, ZH 8952, Switzerland

Last Updated: 09/26/2026

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Found 13 publications

Functional Analysis of a Novel, Non-Canonical RPGR Splice Variant Causing X-Linked Retinitis Pigmentosa.

Functional Analysis of a Novel, Non-Canonical RPGR Splice Variant Causing X-Linked Retinitis Pigmentosa.

Journal: Genes

Published: March 20, 2023

Homozygosity for a Novel DOCK7 Variant Due to Segmental Uniparental Isodisomy of Chromosome 1 Associated with Early Infantile Epileptic Encephalopathy (EIEE) and Cortical Visual Impairment.

Homozygosity for a Novel DOCK7 Variant Due to Segmental Uniparental Isodisomy of Chromosome 1 Associated with Early Infantile Epileptic Encephalopathy (EIEE) and Cortical Visual Impairment.

Journal: International journal of molecular sciences

Published: June 03, 2022

Genetic Analysis in a Swiss Cohort of Bilateral Congenital Cataract.

Genetic Analysis in a Swiss Cohort of Bilateral Congenital Cataract.

Journal: JAMA ophthalmology

Published: May 20, 2021

Long-Range PCR-Based NGS Applications to Diagnose Mendelian Retinal Diseases.

Long-Range PCR-Based NGS Applications to Diagnose Mendelian Retinal Diseases.

Journal: International journal of molecular sciences

Published: January 04, 2021

Whole Exome Sequencing in Coloboma/Microphthalmia: Identification of Novel and Recurrent Variants in Seven Genes.

Whole Exome Sequencing in Coloboma/Microphthalmia: Identification of Novel and Recurrent Variants in Seven Genes.

Journal: Genes

Published: November 20, 2020

Severe retinal degeneration in a patient with Canavan disease.

Severe retinal degeneration in a patient with Canavan disease.

Journal: Ophthalmic genetics

Published: September 25, 2020

Genotype-phenotype spectrum in isolated and syndromic nanophthalmos.

Genotype-phenotype spectrum in isolated and syndromic nanophthalmos.

Journal: Acta ophthalmologica

Published: April 17, 2020

Exome Sequencing in a Swiss Childhood Glaucoma Cohort Reveals CYP1B1 and FOXC1 Variants as Most Frequent Causes.

Exome Sequencing in a Swiss Childhood Glaucoma Cohort Reveals CYP1B1 and FOXC1 Variants as Most Frequent Causes.

Journal: Translational vision science & technology

Published: February 05, 2020

Atonal homolog 7 (ATOH7) loss-of-function mutations in predominant bilateral optic nerve hypoplasia.

Atonal homolog 7 (ATOH7) loss-of-function mutations in predominant bilateral optic nerve hypoplasia.

Journal: Human molecular genetics

Published: August 27, 2019

Genotype-Phenotype Analysis of a Novel Recessive and a Recurrent Dominant SNRNP200 Variant Causing Retinitis Pigmentosa.

Genotype-Phenotype Analysis of a Novel Recessive and a Recurrent Dominant SNRNP200 Variant Causing Retinitis Pigmentosa.

Journal: Investigative ophthalmology & visual science

Published: July 02, 2019

C2orf71 Mutations as a Frequent Cause of Autosomal-Recessive Retinitis Pigmentosa: Clinical Analysis and Presentation of 8 Novel Mutations.

C2orf71 Mutations as a Frequent Cause of Autosomal-Recessive Retinitis Pigmentosa: Clinical Analysis and Presentation of 8 Novel Mutations.

Journal: Investigative ophthalmology & visual science

Published: August 02, 2017

Biallelic Mutations in CRB1 Underlie Autosomal Recessive Familial Foveal Retinoschisis.

Biallelic Mutations in CRB1 Underlie Autosomal Recessive Familial Foveal Retinoschisis.

Journal: Investigative ophthalmology & visual science

Published: June 04, 2016

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Last Updated: 09/26/2026