Sabine Dhellemmes-Defoort - Publications

Long-term Visual Sequelae of Shaken Baby Syndrome: A Retrospective Study of 52 Cases.

Journal: Journal of pediatric ophthalmology and strabismus

Published: May 26, 2026

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

Journal: Eye (London, England)

Published: April 02, 2026

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

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

Journal: Human genetics

Published: April 23, 2025

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

Journal: Documenta ophthalmologica. Advances in ophthalmology

Published: March 12, 2025

Crossed VEP asymmetry in a patient with AHR-linked infantile nystagmus and foveal hypoplasia.

Journal: Documenta ophthalmologica. Advances in ophthalmology

Published: December 13, 2023

Mutational Spectrum, Ocular and Olfactory Phenotypes of CNGB1-Related RP-Olfactory Dysfunction Syndrome in a Multiethnic Cohort.

Journal: Genes

Published: January 29, 2023

Contribution of Whole-Genome Sequencing and Transcript Analysis to Decipher Retinal Diseases Associated with MFSD8 Variants.

Journal: International journal of molecular sciences

Published: March 07, 2022

CRB1-Related Retinal Dystrophies in a Cohort of 50 Patients: A Reappraisal in the Light of Specific Müller Cell and Photoreceptor CRB1 Isoforms.

Journal: International journal of molecular sciences

Published: October 29, 2021

Novel TTLL5 Variants Associated with Cone-Rod Dystrophy and Early-Onset Severe Retinal Dystrophy.

Journal: International journal of molecular sciences

Published: May 19, 2021

Characterization of SSBP1-related optic atrophy and foveopathy.

Journal: Scientific reports

Published: May 02, 2021

Retinitis Punctata Albescens and RLBP1-Allied Phenotypes: Phenotype-Genotype Correlation and Natural History in the Aim of Gene Therapy.

Journal: Ophthalmology science

Published: April 23, 2021