Bart P Leroy
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Explore the profile of Bart P Leroy including associated specialties, affiliations and a list of published articles.
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163
Citations
5198
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Recent Articles
1.
Kaminska K, Cancellieri F, Quinodoz M, Moye A, Bauwens M, Lin S, et al.
Am J Hum Genet
. 2025 Mar;
PMID: 40081374
Inherited retinal diseases (IRDs) are a genetically heterogeneous group of Mendelian disorders that often lead to progressive vision loss and involve approximately 300 distinct genes. Although variants in these loci...
2.
Corral-Serrano J, Vaclavik V, Van de Sompele S, Kaminska K, Jovanovic K, Escher P, et al.
Hum Mol Genet
. 2025 Mar;
PMID: 40037334
Inherited retinal dystrophies (IRDs) are characterized by their high clinical and genetic heterogeneity. Despite significant advances in the identification of genes associated with IRDs, many individuals and families still have...
3.
Abramowicz S, Meunier A, Draganova D, Caspers L, De Bruyne M, Van de Sompele S, et al.
Retina
. 2025 Feb;
45(3):509-521.
PMID: 39964824
Purpose: To evaluate the presence of American College of Medical Genetics and Genomics class 3, 4, and 5 genetic variants in inherited retinal disease (IRD) genes in posterior or panuveitis...
4.
Quinodoz M, Rodenburg K, Cvackova Z, Kaminska K, de Bruijn S, Iglesias-Romero A, et al.
medRxiv
. 2025 Jan;
PMID: 39830270
The U4 small nuclear RNA (snRNA) forms a duplex with the U6 snRNA and, together with U5 and ~30 proteins, is part of the U4/U6.U5 tri-snRNP complex, located at the...
5.
Balfoort B, Van den Broeck F, Boon C, Brouwers M, Diederen R, Dhillon P, et al.
J Inherit Metab Dis
. 2025 Jan;
48(1):e12842.
PMID: 39761806
Gyrate atrophy of the choroid and retina (GACR, OMIM #258870) is a rare inherited metabolic disorder characterized by progressive chorioretinal degeneration and hyperornithinemia. Current therapeutic modalities potentially slow disease progression...
6.
Karuntu J, Almushattat H, Nguyen X, Plomp A, Wanders R, Hoyng C, et al.
Prog Retin Eye Res
. 2024 Dec;
:101324.
PMID: 39733931
Retinitis pigmentosa (RP) is a progressive inherited retinal dystrophy, characterized by the degeneration of photoreceptors, presenting as a rod-cone dystrophy. Approximately 20-30% of patients with RP also exhibit extra-ocular manifestations...
7.
Maguire M, Birch D, Duncan J, Ayala A, Ayton L, Cheetham J, et al.
Transl Vis Sci Technol
. 2024 Oct;
13(10):15.
PMID: 39382872
Purpose: To evaluate functional and structural assessments as endpoints for clinical trials for USH2A-related retinal degeneration. Methods: People with biallelic disease-causing variants in USH2A, visual acuity ≥ 20/80, and visual...
8.
de Muijnck C, Haer-Wigman L, van Everdingen J, Lushchyk T, Heutinck P, van Dooren M, et al.
Sci Rep
. 2024 Oct;
14(1):22956.
PMID: 39363032
This study aims to describe the ophthalmic characteristics of autosomal dominant (AD) WFS1-associated optic atrophy (AD WFS1-OA), and to explore phenotypic differences with dominant optic atrophy (DOA) caused by mutations...
9.
Dangreau L, Hosen M, De Zaeytijd J, Leroy B, Coucke P, Vanakker O
Curr Issues Mol Biol
. 2024 Sep;
46(9):9998-10007.
PMID: 39329949
Germline mosaicism in autosomal recessive disorders is considered a rare disease mechanism with important consequences for diagnosis and patient counseling. In this report, we present two families with PXE in...
10.
Abramowicz S, Meunier A, Postelmans L, Caspers L, Corazza F, De Bruyne M, et al.
Retina
. 2024 Aug;
44(9):1597-1607.
PMID: 39167581
Purpose: Evaluating the presence of class 3, 4, and 5 genetic variants in inherited retinal disease (IRD) genes in patients with retinopathy of unknown origin (RUO). Methods: Multicentric retrospective study...