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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
Childhood-Onset Autosomal Recessive Bestrophinopathy
Arundhati Dev Borman,Alice E. Davidson,James O'Sullivan,Dorothy A. Thompson,Anthony G. Robson,Elfride De Baere,Graeme C.M. Black,Andrew R. Webster,Graham E. Holder,Bart P. Leroy,Forbes D C Manson,Anthony T. Moore +11 more
TL;DR: After 8 months of treatment, the patient remained intellectually impaired and continued to require an augmentative communication device, but his behavioral difficulties appeared to be subsiding.
Journal ArticleDOI
Massively parallel sequencing for early molecular diagnosis in Leber congenital amaurosis
Frauke Coppieters,Bram De Wilde,Steve Lefever,Ellen De Meester,Nina De Rocker,Caroline Van Cauwenbergh,Filip Pattyn,Françoise Meire,Bart P. Leroy,Bart P. Leroy,Jan Hellemans,Jo Vandesompele,Elfride De Baere +12 more
TL;DR: A novel targeted MPS-based approach is proposed that is suitable for accurate, fast, and cost-effective early molecular testing in LCA, and easily applicable in other genetic disorders.
Journal ArticleDOI
Large deletions of the KCNV2 gene are common in patients with cone dystrophy with supernormal rod response
Bernd Wissinger,Simone Schaich,Britta Baumann,Michael Bonin,Herbert Jägle,Christoph Friedburg,Balázs Varsányi,Carel B. Hoyng,Hélène Dollfus,John R. Heckenlively,Thomas Rosenberg,Günter Rudolph,Ulrich Kellner,Roberto Salati,Astrid S. Plomp,Elfride De Baere,Monika Andrassi-Darida,Alexandra Sauer,Christiane Wolf,Ditta Zobor,Antje Bernd,Bart P. Leroy,Péter Enyedi,Frans P.M. Cremers,Birgit Lorenz,Eberhart Zrenner,Susanne Kohl +26 more
TL;DR: It is found that KCNV2 mutations are present in a substantial fraction of a sample of 367 independent patients with a variety of initial clinical diagnoses of cone malfunction, indicating that CDSRR is underdiagnosed and more common than previously thought.
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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 RNAs
Caroline Van Cauwenbergh,Kristof Van Schil,Robrecht Cannoodt,Robrecht Cannoodt,Miriam Bauwens,Thalia Van Laethem,Sarah De Jaegere,Wouter Steyaert,Tom Sante,Björn Menten,Bart P. Leroy,Bart P. Leroy,Frauke Coppieters,Elfride De Baere +13 more
TL;DR: The arrEYE platform revealed subtle single-exon to larger CNVs in iRD genes that could be characterized at the nucleotide level, facilitated by the high resolution of the platform.
Journal ArticleDOI
Mutations in Splicing Factor Genes Are a Major Cause of Autosomal Dominant Retinitis Pigmentosa in Belgian Families.
Caroline Van Cauwenbergh,Frauke Coppieters,Dimitri Roels,Sarah De Jaegere,Helena Flipts,Helena Flipts,Julie De Zaeytijd,Sophie Walraedt,Charlotte Claes,Erik Fransén,Guy Van Camp,Fanny Depasse,Ingele Casteels,Thomy de Ravel,Bart P. Leroy,Bart P. Leroy,Elfride De Baere +16 more
TL;DR: The molecular spectrum of PRPH2, PRPF8, RHO, RP1, SNRNP200, and TOPORS-associated adRP was expanded by the identification of 17 novel mutations, including four missense mutations in RHO and five frameshift mutations in RP1.