Isabelle A. Meunier

Montpellier, France

Last Updated: 09/26/2026

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Found 132 publications

Clinical and molecular features of PRCD-associated retinopathy.

Clinical and molecular features of PRCD-associated retinopathy.

Journal: Acta ophthalmologica

Published: May 07, 2026

Building a National Interoperable Rare Eye Disease Data Warehouse: Methodological Framework and Implementation Report From the French Rare Eye Disease Database (FREDD) Initiative.

Building a National Interoperable Rare Eye Disease Data Warehouse: Methodological Framework and Implementation Report From the French Rare Eye Disease Database (FREDD) Initiative.

Journal: JMIR medical informatics

Published: April 23, 2026

Clinical and Genetic Spectrum of ACO2-Linked Dominant Optic Atrophy.

Clinical and Genetic Spectrum of ACO2-Linked Dominant Optic Atrophy.

Journal: JAMA ophthalmology

Published: April 09, 2026

Expanding phenotypic and genotypic spectrum of PDE6C-associated retinal disorders.

Expanding phenotypic and genotypic spectrum of PDE6C-associated retinal disorders.

Journal: Eye (London, England)

Published: April 02, 2026

A novel case of Heimler syndrome in a young child with compound heterozygous PEX26 mutations: clinical and genetic insights with literature review.

A novel case of Heimler syndrome in a young child with compound heterozygous PEX26 mutations: clinical and genetic insights with literature review.

Journal: Ophthalmic genetics

Published: March 29, 2026

Real-time documentation of acute pre-retinal hemorrhage in central retinal vein occlusion.

Real-time documentation of acute pre-retinal hemorrhage in central retinal vein occlusion.

Journal: Journal francais d'ophtalmologie

Published: March 28, 2026

Phenotypic Variations in a Large Family with Dominant Optic Atrophy Related to a Novel OPA1 Deletion.

Phenotypic Variations in a Large Family with Dominant Optic Atrophy Related to a Novel OPA1 Deletion.

Journal: Ophthalmology science

Published: February 13, 2026

Relevance of a macular phenotype characteristic of TJP2-related progressive familial intrahepatic cholestasis: a case report.

Relevance of a macular phenotype characteristic of TJP2-related progressive familial intrahepatic cholestasis: a case report.

Journal: Clinics and research in hepatology and gastroenterology

Published: February 06, 2026

Biallelic germline variants in the hematologic malignancy predisposition gene DDX41 cause retinal dystrophy through dysregulation of retinal homeostasis.

Biallelic germline variants in the hematologic malignancy predisposition gene DDX41 cause retinal dystrophy through dysregulation of retinal homeostasis.

Journal: medRxiv : the preprint server for health sciences

Published: February 06, 2026

Relevance of a macular phenotype characteristic of TJP2-related progressive familial intrahepatic cholestasis : A case report.

Relevance of a macular phenotype characteristic of TJP2-related progressive familial intrahepatic cholestasis : A case report.

Journal: Clinics and research in hepatology and gastroenterology

Published: January 25, 2026

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

Showing 1-12 of 132

Last Updated: 09/26/2026