Veronika Vaclavik

Lausanne, VD 1004, Switzerland

Last Updated: 09/26/2026

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Found 36 publications

Systematic functional evaluation of CNGA1 missense variants associated with retinitis pigmentosa.

Systematic functional evaluation of CNGA1 missense variants associated with retinitis pigmentosa.

Journal: Molecular medicine (Cambridge, Mass.)

Published: February 03, 2026

Bi-allelic variants in FSD1L cause retinitis pigmentosa with or without neurological involvement.

Bi-allelic variants in FSD1L cause retinitis pigmentosa with or without neurological involvement.

Journal: American journal of human genetics

Published: August 13, 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

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

A novel recurrent ARL3 variant c.209G > A p.(Gly70Glu) causes variable non-syndromic dominant retinal dystrophy with defective lipidated protein transport in human retinal stem cell models.

A novel recurrent ARL3 variant c.209G > A p.(Gly70Glu) causes variable non-syndromic dominant retinal dystrophy with defective lipidated protein transport in human retinal stem cell models.

Journal: Human molecular genetics

Published: October 25, 2024

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

Variants in the AGBL5 gene are responsible for autosomal recessive Retinitis pigmentosa with hearing loss.

Variants in the AGBL5 gene are responsible for autosomal recessive Retinitis pigmentosa with hearing loss.

Journal: European journal of human genetics : EJHG

Published: May 02, 2024

Substitution of a single non-coding nucleotide upstream of TMEM216 causes non-syndromic retinitis pigmentosa and is associated with reduced TMEM216 expression.

Substitution of a single non-coding nucleotide upstream of TMEM216 causes non-syndromic retinitis pigmentosa and is associated with reduced TMEM216 expression.

Journal: American journal of human genetics

Published: March 29, 2024

Characterization of the Retinal Phenotype Using Multimodal Imaging in Novel Compound Heterozygote Variants of CYP2U1.

Characterization of the Retinal Phenotype Using Multimodal Imaging in Novel Compound Heterozygote Variants of CYP2U1.

Journal: Ophthalmology science

Published: March 03, 2024

Detection of elusive DNA copy-number variations in hereditary disease and cancer through the use of noncoding and off-target sequencing reads.

Detection of elusive DNA copy-number variations in hereditary disease and cancer through the use of noncoding and off-target sequencing reads.

Journal: American journal of human genetics

Published: October 23, 2023

GNB1-Related Rod-Cone Dystrophy: A Case Report.

GNB1-Related Rod-Cone Dystrophy: A Case Report.

Journal: Case reports in ophthalmology

Published: September 26, 2023

Acute bilateral blindness due to diffuse outer retinopathy following clear lens exchange: a case report.

Acute bilateral blindness due to diffuse outer retinopathy following clear lens exchange: a case report.

Journal: BMC ophthalmology

Published: July 24, 2023

Showing 1-12 of 36

Last Updated: 09/26/2026