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Ophthalmic Research|October 23, 2015
Colour Vision in Stargardt DiseaseTine Vandenbroucke, Ronald Buyl, Julie De Zaeytijd, et al.
Nature Communications|February 21, 2024
Multi-omics analysis in human retina uncovers ultraconserved cis-regulatory elements at rare eye disease lociVictor Lopez Soriano, Alfredo Dueñas Rey, Rajarshi Mukherjee, et al.
Clinical Genetics|March 12, 2024
Autozygome-guided exome-first study in a consanguineous cohort with early-onset retinal disease uncovers an isolated RIMS2 phenotype and a retina-enriched RIMS2 isoformMarta Del Pozo-Valero, Basamat Almoallem, Alfredo Dueñas Rey, et al.
Stem Cell Research|November 6, 2025
Generation and characterization of three human induced pluripotent stem cell lines (UGENTi005, UGENTi006 and UGENTi007) from patients with autosomal dominant adult-onset maculopathy due to RPE65 variant c.1555G>A, p.(E519K)Eline Van Vooren, Filip Van den Broeck, Esperanza Daal, et al.
Molecular Medicine (Cambridge, Mass.)|May 27, 2026
Systematic functional evaluation of CNGA1 missense variants associated with retinitis pigmentosaPeggy Reuter, Jennifer Schroeder, Marc Sturm, et al.
Genetics in Medicine : Official Journal of the American College of Medical Genetics|August 15, 2014
Early-onset autosomal recessive cerebellar ataxia associated with retinal dystrophy: new human hotfoot phenotype caused by homozygous GRID2 deletionKristof Van Schil, Françoise Meire, Marcus Karlstetter, et al.
Human Mutation|April 14, 2025
Compendium of Clinical Variant Classification for 2,246 Unique ABCA4 Variants to Clarify Variant Pathogenicity in Stargardt Disease Using a Modified ACMG/AMP FrameworkStéphanie S Cornelis, Miriam Bauwens, Lonneke Haer-Wigman, et al.
Proceedings of the National Academy of Sciences of the United States of America|April 9, 2020
Mapping the cis-regulatory architecture of the human retina reveals noncoding genetic variation in diseaseTimothy J Cherry, Marty G Yang, David A Harmin, et al.
Clinical Genetics|November 14, 2019
Functional characterization of novel MFSD8 pathogenic variants anticipates neurological involvement in juvenile isolated maculopathyMiriam Bauwens, Stephan Storch, Nicole Weisschuh, et al.
Genetics in Medicine : Official Journal of the American College of Medical Genetics|September 9, 2016
arrEYE: a customized platform for high-resolution copy number analysis of coding and noncoding regions of known and candidate retinal dystrophy genes and retinal noncoding RNAsCaroline Van Cauwenbergh, Kristof Van Schil, Robrecht Cannoodt, et al.
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