Claire-marie M. Dhaenens - Publications

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

Journal: Eye (London, England)

Published: April 02, 2026

EGFLAM Pathogenic Variants and Congenital Stationary Night Blindness.

Journal: JAMA ophthalmology

Published: December 04, 2025

Benign foveal retinal pigment epithelium hypopigmentation without functional loss : pediatric case series.

Journal: Graefe's archive for clinical and experimental ophthalmology = Albrecht von Graefes Archiv fur klinische und experimentelle Ophthalmologie

Published: October 10, 2025

RPE65 Variant p.(E519K) Causes a Novel Dominant Adult-Onset Maculopathy in 83 Affected Individuals.

Journal: Investigative ophthalmology & visual science

Published: September 23, 2025

Novel BEST1 Variant Characterization in a Large French Cohort in Light of Updated Bestrophin-1 Structure-Function Correlation.

Journal: Investigative ophthalmology & visual science

Published: September 02, 2025

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

Journal: Nature genetics

Published: June 02, 2025

RPE65 variant p.(E519K) causes a novel dominant adult-onset maculopathy in 83 affected individuals.

Journal: Research square

Published: May 19, 2025

RPGRorf15 nanopore long-read sequencing improves retinitis pigmentosa molecular diagnosis for men and women.

Journal: Human genetics

Published: April 23, 2025

Phenotypic and Genotypic Characterization of RP1L1-Associated Retinopathy.

Journal: Investigative ophthalmology & visual science

Published: April 02, 2025

Intrafamilial variability of phenotype in CACNA2D4-associated retinal dysfunction: more or less.

Journal: Documenta ophthalmologica. Advances in ophthalmology

Published: March 12, 2025

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

Two case reports of RAB39B deletion displaying highly variable parkinsonism.

Journal: Parkinsonism & related disorders

Published: December 12, 2024