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Bart P. Leroy
Researcher at Children's Hospital of Philadelphia
Publications - 157
Citations - 7988
Bart P. Leroy is an academic researcher from Children's Hospital of Philadelphia. The author has contributed to research in topics: Retinitis pigmentosa & Visual acuity. The author has an hindex of 40, co-authored 139 publications receiving 6460 citations. Previous affiliations of Bart P. Leroy include Ghent University Hospital & Ghent University.
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Journal ArticleDOI
Disease Expression in Autosomal Recessive Retinal Dystrophy Associated With Mutations in the DRAM2 Gene.
Panagiotis I. Sergouniotis,Martin McKibbin,Anthony G. Robson,Hanno J. Bolz,Elfride De Baere,Philipp L. Müller,Raoul Heller,Mohammed E El-Asrag,Kristof Van Schil,Vincent Plagnol,Carmel Toomes,Manir Ali,Graham E. Holder,Peter Charbel Issa,Bart P. Leroy,Chris F. Inglehearn,Andrew R. Webster +16 more
TL;DR: Patients with DRAM2-retinopathy are typically asymptomatic in the first two decades of life and present with central visual loss and a maculopathy, and a faint hyperautofluorescent ring on FAF can be a suggestive feature.
Journal ArticleDOI
Mutations in the gene PDE6C encoding the catalytic subunit of the cone photoreceptor phosphodiesterase in patients with achromatopsia.
Nicole Weisschuh,Katarina Stingl,Isabelle Audo,Isabelle Audo,Saskia Biskup,Béatrice Bocquet,Kari Branham,Marie Burstedt,Elfride De Baere,Meindert De Vries,Irina Golovleva,Andrew R Green,John R. Heckenlively,Bart P. Leroy,Bart P. Leroy,Isabelle Meunier,Elias I. Traboulsi,Bernd Wissinger,Susanne Kohl +18 more
TL;DR: This study comprises 176 genetically preselected patients who remained unsolved after Sanger sequencing of the most frequent genes accounting for ACHM, and were subsequently screened for exonic and splice site variants in PDE6C applying a targeted next generation sequencing approach, and was able to identify potentially pathogenic biallelic variants in 15 index cases.
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Clinico-molecular analysis of eleven patients with Hermansky-Pudlak type 5 syndrome, a mild form of HPS.
Vincent Michaud,Eulalie Lasseaux,Claudio Plaisant,Alain Verloes,Y Perdomo-Trujillo,Christian P. Hamel,Nursel Elcioglu,Nursel Elcioglu,Bart P. Leroy,Josseline Kaplan,Pierre-Simon Jouk,Didier Lacombe,Patricia Fergelot,Fanny Morice-Picard,Benoit Arveiler +14 more
TL;DR: HPS‐5 appears as a mild form of HPS, which is often clinically undistinguishable from mild oculocutaneous or ocular forms of albinism, and has consequences in terms of prognosis and of clinical management of the patients.
Journal ArticleDOI
Functional characterization of the first missense variant in CEP78, a founder allele associated with cone-rod dystrophy, hearing loss, and reduced male fertility.
Giulia Ascari,Frank Peelman,Pietro Farinelli,Pietro Farinelli,Toon Rosseel,Nina Lambrechts,Kirsten A. Wunderlich,Kirsten A. Wunderlich,Matias Wagner,Konstantinos Nikopoulos,Pernille Martens,Irina Balikova,Irina Balikova,Lara Derycke,Gabriele Holtappels,Olga Krysko,Thalia Van Laethem,Sarah De Jaegere,Brecht Guillemyn,Riet De Rycke,Jan De Bleecker,David Creytens,Jo Van Dorpe,Jan Gerris,Claus Bachert,Christiane Neuhofer,Sophie Walraedt,Almut Turid Bischoff,Lotte B. Pedersen,Thomas Klopstock,Thomas Klopstock,Carlo Rivolta,Bart P. Leroy,Bart P. Leroy,Elfride De Baere,Frauke Coppieters +35 more
TL;DR: The data indicate that a missense founder allele in CEP78 underlies the same sensorineural CRDHL phenotype previously associated with inactivating variants, which has been possibly expanded with male infertility.