Bart Leroy

The Natural History of Inherited Retinal Dystrophy Due to Biallelic Mutations in the RPE65 Gene

Daniel C. Chung, Mette Bertelsen, Birgit Lorenz et al. · American Journal of Ophthalmology · 2018 · 120 citations

Biallelic Mutations, Rpe65 Gene, Retina +8

Isolated and Syndromic Retinal Dystrophy Caused by Biallelic Mutations in RCBTB1 , a Gene Implicated in Ubiquitination

Frauke Coppieters, Giulia Ascari, Katharina Dannhausen et al. · The American Journal of Human Genetics · 2016 · 49 citations · Full text

Clinical and electrophysiological findings in autosomal dominant vitreoretinochoroidopathy: report of a new pedigree

B. A. Lafaut, Bart Loeys, Bart Leroy et al. · Graefe s Archive for Clinical and Experimental Ophthalmology · 2001 · 44 citations

Electrophysiological Findings, New Pedigree, Autosomal Dominant Vitreoretinochoroidopathy +1

Maternal Uniparental Isodisomy of Chromosome 6 Reveals a TULP1 Mutation as a Novel Cause of Cone Dysfunction

Susanne Roosing, L. Ingeborgh van den Born, Carel B. Hoyng et al. · Ophthalmology · 2013 · 42 citations

Developmental Anomaly, Cytogenetics, Genetic Disorder +10

Where are the missing gene defects in inherited retinal disorders? Intronic and synonymous variants contribute at least to 4% of <i>CACNA1F</i> ‐mediated inherited retinal disorders

Christina Zeitz, Christelle Michiels, Marion Neuillé et al. · Human Mutation · 2019 · 30 citations · Full text

Ocular Disease, Genetics, Pathology +21