Anne-francoise F. Roux

Montpellier, France

Last Updated: 09/26/2026

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Found 65 publications

Erratum: Genome Editing in Patient iPSCs Corrects the Most Prevalent USH2A Mutations and Reveals Intriguing Mutant mRNA Expression Profiles.

Erratum: Genome Editing in Patient iPSCs Corrects the Most Prevalent USH2A Mutations and Reveals Intriguing Mutant mRNA Expression Profiles.

Journal: Molecular therapy. Methods & clinical development

Published: December 11, 2025

CEP76 impairment at the centrosome-cilium interface contributes to a spectrum of ciliopathies.

CEP76 impairment at the centrosome-cilium interface contributes to a spectrum of ciliopathies.

Journal: Science advances

Published: October 17, 2025

PubMatcher: a web app to support genomic data interpretation through simplified bibliographic research.

PubMatcher: a web app to support genomic data interpretation through simplified bibliographic research.

Journal: European journal of human genetics : EJHG

Published: July 27, 2025

Generation of a human iPSC line, INMi007-A, carrying compound heterozygous DCT variants associated with oculocutaneous albinism type 8.

Generation of a human iPSC line, INMi007-A, carrying compound heterozygous DCT variants associated with oculocutaneous albinism type 8.

Journal: Stem cell research

Published: April 29, 2025

Identification of IDH3G, encoding the gamma subunit of mitochondrial isocitrate dehydrogenase, as a novel candidate gene for X-linked retinitis pigmentosa.

Identification of IDH3G, encoding the gamma subunit of mitochondrial isocitrate dehydrogenase, as a novel candidate gene for X-linked retinitis pigmentosa.

Journal: Genetics in medicine : official journal of the American College of Medical Genetics

Published: December 12, 2024

Unilateral, bilateral symmetric or asymmetric isolated hearing loss in patients with heterozygous KITLG variants.

Unilateral, bilateral symmetric or asymmetric isolated hearing loss in patients with heterozygous KITLG variants.

Journal: Human genetics

Published: December 01, 2024

The phenotypic spectrum of CEP250 gene variants.

The phenotypic spectrum of CEP250 gene variants.

Journal: Ophthalmic genetics

Published: November 29, 2024

Validation of Nanopore long-read sequencing to resolve RPGR ORF15 genotypes in individuals with X-linked retinitis pigmentosa.

Validation of Nanopore long-read sequencing to resolve RPGR ORF15 genotypes in individuals with X-linked retinitis pigmentosa.

Journal: European journal of human genetics : EJHG

Published: December 12, 2023

Functional analysis of germline VANGL2 variants using rescue assays of vangl2 knockout zebrafish.

Functional analysis of germline VANGL2 variants using rescue assays of vangl2 knockout zebrafish.

Journal: Human molecular genetics

Published: July 27, 2023

USH2A variants causing retinitis pigmentosa or Usher syndrome provoke differential retinal phenotypes in disease-specific organoids.

USH2A variants causing retinitis pigmentosa or Usher syndrome provoke differential retinal phenotypes in disease-specific organoids.

Journal: HGG advances

Published: June 05, 2023

Evaluating the Transition from Targeted to Exome Sequencing: A Guide for Clinical Laboratories.

Evaluating the Transition from Targeted to Exome Sequencing: A Guide for Clinical Laboratories.

Journal: International journal of molecular sciences

Published: March 15, 2023

Identification and in vivo functional investigation of a HOMER2 nonstop variant causing hearing loss.

Identification and in vivo functional investigation of a HOMER2 nonstop variant causing hearing loss.

Journal: European journal of human genetics : EJHG

Published: March 13, 2023

Showing 1-12 of 65

Last Updated: 09/26/2026