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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.
Papers
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Journal ArticleDOI
Cost-effective sequence analysis of 113 genes in 1,192 probands with retinitis pigmentosa and Leber congenital amaurosis
Daan M. Panneman,Rebekkah J. Hitti-Malin,Lara K. Holtes,Suzanne E. de Bruijn,Janine Reurink,E Boonen,Muhammad Imran Khan,Manir Ali,Sten Andréasson,Elfride De Baere,Sandro Banfi,Miriam Bauwens,Tamar Ben-Yosef,Béatrice Bocquet,Marieke De Bruyne,B. de la Cerda,Frauke Coppieters,Pietro Farinelli,Thomas Guignard,Chris F. Inglehearn,Marianthi Karali,Ulrika Kjellström,Robert K. Koenekoop,Bart de Koning,Bart P. Leroy,Martin McKibbin,Isabelle Meunier,Konstantinos Nikopoulos,Koji M. Nishiguchi,James A. Poulter,Carlo Rivolta,Enrique Rodríguez de la Rúa,Patrick Saunders,Francesca Simonelli,Yasmin Tatour,Francesco Testa,Alberta A H J Thiadens,Carmel Toomes,Anna M Tracewska,Hoai Viet Tran,Hiroaki Ushida,Veronika Vaclavik,Virginie J. M. Verhoeven,Maartje van de Vorst,Christian Gilissen,Alexander Hoischen,Frans P.M. Cremers,Susanne Roosing +47 more
TL;DR: In this paper , the exons and splice sites of all currently known genes associated with retinitis pigmentosa (RP) and Leber congenital amaurosis (LCA) were used to screen 1,192 probands from an international cohort of predominantly RP and LCA cases.
Journal ArticleDOI
Multi-omics approach dissects cis-regulatory mechanisms underlying North Carolina macular dystrophy, a retinal enhanceropathy
Stijn Van De Sompele,Kent W. Small,M. B. Cicekdal,Víctor López Soriano,Eva D'haene,Fadi Shaya,Steven Agemy,Thijs Van der Snickt,Alfredo Dueñas Rey,Toon Rosseel,Mattias Van Heetvelde,Sarah Vergult,Irina Balikova,Arthur A.B. Bergen,Camiel J. F. Boon,Julie De Zaeytijd,Chris F. Inglehearn,Bohdan Kousal,Bart P. Leroy,Carlo Rivolta,Veronika Vaclavik,Jenneke van den Ende,Mary J. van Schooneveld,José Luis Gómez-Skarmeta,Juan J. Tena,Juan Ramón Martínez-Morales,Petra Liskova,Kris Vleminckx,Elfride De Baere +28 more
TL;DR: In this paper , a genome-wide multi-omics retinal database, RegRet, was used for fine-mapping of the interactions of the PRDM13 and IRX1 promoters and the identification of eighteen candidate cis-regulatory elements (cCREs), the activity of which was investigated by luciferase and Xenopus enhancer assays.
Book ChapterDOI
Clinical features & retinal function in patients with adult Refsum syndrome.
Bart P. Leroy,Chris Hogg,Pamela R Rath,Vicky Mcbain,Philippe Kestelyn,Alan C. Bird,Graham E. Holder +6 more
TL;DR: To characterise the clinical findings, and retinal function in patients with Adult Refsum Syndrome (ARS) using clinical examination and electroretinography, and to evaluate possible effects of treatment.
Journal ArticleDOI
New variants and in silico analyses in GRK1 associated Oguchi disease
James A. Poulter,Molly S. C. Gravett,Rachel L. Taylor,Kaoru Fujinami,Julie De Zaeytijd,James Bellingham,Atta Ur Rehman,Takaaki Hayashi,Mineo Kondo,Abdur Rehman,Muhammad Ansar,Dan Donnelly,Carmel Toomes,Manir Ali,Elfride De Baere,Bart P. Leroy,Nigel P. Davies,Nigel P. Davies,Robert H. Henderson,Andrew R. Webster,Carlo Rivolta,Carlo Rivolta,Omar A. Mahroo,Omar A. Mahroo,Gavin Arno,Gavin Arno,Graeme C.M. Black,Graeme C.M. Black,Martin McKibbin,Martin McKibbin,Sarah A. Harris,Sarah A. Harris,Kamron N. Khan,Chris F. Inglehearn,Chris F. Inglehearn +34 more
TL;DR: To aid future clinical interpretation, the bioinformatics tools best able to differentiate disease associated from nondisease associated variants were identified and investigated how disease‐causing variants may impede protein function in‐silico.
Journal Article
Results of a phase 1b/2 trial of intravitreal (IVT) sepofarsen (QR-110) antisense oligonucleotide in Leber congenital amaurosis 10 (LCA10) due to p.Cys998X mutation in the CEP290 gene
Stephen R. Russell,Arlene V. Drack,Artur V. Cideciyan,Samuel G. Jacobson,Bart P. Leroy,Bart P. Leroy,Wanda L. Pfeifer,Alina V. Dumitrescu,Alexandra V. Garafolo,Allen C. Ho,Caroline Van Cauwenbergh,Julie De Zaeytijd,Aniz Girach,Wil den Hollander,Michael D. Schwartz,David M. Rodman +15 more