Researcher
Bart Leroy
- Disciplines:Optometry, Ophthalmology, Optical technology, Epigenetics, Molecular medicine, Ophthalmology and optometry not elsewhere classified, Clinical genetics and molecular diagnostics, Immunogenetics, Genetics
Affiliations
- Department of Head and Skin (Department)
Member
From1 Oct 2018 → Today - Department of Ophthalmology (Department)
Responsible
From1 Oct 2014 → 30 Sep 2018 - Department of Ophthalmology (Department)
Member
From1 Oct 2014 → 30 Sep 2018 - Department of Ophthalmology (Department)
Member
From1 Oct 1998 → 30 Sep 2018
Projects
1 - 4 of 4
- An integrated CRISPR/iPSC-based approach to elucidate uncertain variation in RPE65, a target for gene therapyFrom1 Nov 2022 → TodayFunding: FWO Strategic Basic Research Grant
- Holistic mixed approaches to capture the real life of children with Rare Eye Diseases (SeeMyLife).From1 Nov 2022 → TodayFunding: FWO research project (including WEAVE projects)
- Precision medicine in inherited blindness using integrated omics in human and animal modelsFrom1 Jan 2020 → TodayFunding: BOF - projects
- Cis-regulatorische mapping van de RPE-geexpresseerde transcriptie factor OTX2From1 Nov 2012 → 31 Oct 2016Funding: Marie Curie - People
Publications
31 - 40 of 65
- The ADAMTS18 gene is responsible for autosomal recessive early onset severe retinal dystrophy(2013)
Authors: Ivana Peluso, Ivan Conte, Francesco Testa, Gopuraja Dharmalingam, Mariateresa Pizzo, Rob WJ Collin, Nicola Meola, Sara Barbato, Margherita Mutarelli, Carmela Ziviello, et al.
- Whole-exome sequencing identifies LRIT3 mutations as a cause of autosomal-recessive complete congenital stationary night blindness(2013)
Authors: Christina Zeitz, Samuel G Jacobson, Christian P Hamel, Kinga Bujakowska, Marion Neuillé, Elise Orhan, Xavier Zanlonghi, Marie-Elise Lancelot, Christelle Michiels, Sharon B Schwartz, et al.
Pages: 67 - 75 - Maternal uniparental isodisomy of chromosome 6 reveals a TULP1 mutation as a novel cause of cone dysfunction(2013)
Authors: Susanne Roosing, L Ingeborgh van den Bon, Carel B Hoyng, Alberta AHJ Thiadeus, Elfride De Baere, Rob WJ Collin, Robert K Koenekoop, Bart Leroy, Norka van Moll-Ramirez, Hanka Venselaar, et al.
Pages: 1239 - 1246 - Familial cases of a submicroscopic Xp22.2 deletion : genotype-phenotype correlation in microphthalmia with linear skin defects syndrome(2013)
Authors: Sarah Vergult, Bart Leroy, Ilse Claerhout, Björn Menten
Pages: 311 - 318 - Clinical course, genetic etiology, and visual outcome in cone and cone-rod dystrophy(2012)
Authors: Alberta AHJ Thiadens, T My Lan Phan, Renate C Zekveld-Vroon, Bart Leroy, L Ingeborgh van den Born, Crel B Hoyng, Caroline CW Klaver, Susanne Roosing, Jan-Willem R Pott, Mary J van Schooneveld, et al.
Pages: 819 - 826 - A nonsense mutation in PDE6H causes autosomal-recessive incomplete achromatopsia(2012)
Authors: Susanne Kohl, Frauke Coppieters, Françoise Meire, Simone Schaich, Susanne Roosing, Christina Brennenstuhl, Sylvia Bolz, Maria M van Genderen, Frans CC Riemslag, the European Retinal Disease Consortium, et al.
Pages: 527 - 532 - BBS1 mutations in a wide spectrum of phenotypes ranging from nonsyndromic retinitis pigmentosa to Bardet-Biedl syndrome(2012)
Authors: Alejandro Estrada-Cuzcano, Robert K Koenekoop, Audrey Senechal, Elfride De Baere, Thomy de Ravel, Sandro Banfi, Ssusanne Kohl, Carmen Ayuso, Dror Sharon, Carel B Hoyng, et al.
Pages: 1425 - 1432 - Enhanced S-cone syndrome with preserved macular structure and severely depressed retinal function(2012)
Authors: Ivan Cima, Jelka Brecelj, Maja Sustar, Frauke Coppieters, Bart Leroy, Elfride De Baere, Marko Hawlina
Pages: 161 - 168 - Clinical utility gene card for: BEST1-related dystrophies (Bestrophinopathies)(2012)
Authors: Simon C Ramsden, Alice E Davidson, Bart Leroy, Anthony T Moore, Andrew R Webster, Graeme CM Black, Forbes DC Manson
- Mutations in C8orf37, encoding a ciliary protein, are associated with autosomal-recessive retinal dystrophies with early macular involvement(2012)
Authors: Alejandro Estrada-Cuzcano, Kornelis Neveling, Susanne Kohl, Eyal Banin, Ygal Rotenstreich, Dror Sharon, Tzipora C Falik-Zaccai, Stephanie Hipp, Ronald Roepman, Bernd Wissinger, et al.
Pages: 102 - 109