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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
Spectrum of FOXL2 gene mutations in blepharophimosis-ptosis-epicanthus inversus (BPES) families demonstrates a genotype–phenotype correlation
Elfride De Baere,Michael J. Dixon,Kent W. Small,Ethylin Wang Jabs,Bart P. Leroy,Koenraad Devriendt,Yves Gillerot,Geert Mortier,Françoise Meire,Lionel Van Maldergem,Winnie Courtens,Helle Hjalgrim,Shangzhi Huang,Inge Liebaers,Nicole Van Regemorter,Philippe Touraine,Verayuth Praphanphoj,Alain Verloes,Nitin Udar,Vivek S. Yellore,Meenal Chalukya,S. Yelchits,Anne De Paepe,F Kuttenn,Marc Fellous,Reiner A. Veitia,Ludwine Messiaen +26 more
TL;DR: It is demonstrated that there is a genotype--phenotype correlation for either types of BPES by the finding that mutations predicted to result in a truncated protein either lacking or containing the forkhead domain lead to BPES type I.
Journal ArticleDOI
TRPM1 Is Mutated in Patients with Autosomal-Recessive Complete Congenital Stationary Night Blindness
Isabelle Audo,Susanne Kohl,Bart P. Leroy,Francis L. Munier,Xavier Guillonneau,Xavier Guillonneau,Xavier Guillonneau,Saddek Mohand-Said,Kinga M. Bujakowska,Kinga M. Bujakowska,Kinga M. Bujakowska,Emeline F. Nandrot,Emeline F. Nandrot,Emeline F. Nandrot,Birgit Lorenz,Markus N. Preising,Ulrich Kellner,Agnes B. Renner,Antje Bernd,Aline Antonio,Veselina Moskova-Doumanova,Veselina Moskova-Doumanova,Veselina Moskova-Doumanova,Marie-Elise Lancelot,Marie-Elise Lancelot,Marie-Elise Lancelot,Charlotte M. Poloschek,Isabelle Drumare,Sabine Defoort-Dhellemmes,Bernd Wissinger,Thierry Léveillard,Thierry Léveillard,Thierry Léveillard,Christian P. Hamel,Daniel F. Schorderet,Elfride De Baere,Wolfgang Berger,Samuel G. Jacobson,Eberhart Zrenner,José-Alain Sahel,Shomi S. Bhattacharya,Christina Zeitz,Christina Zeitz,Christina Zeitz +43 more
TL;DR: It is proposed that the cCSNB phenotype in patients with complete X-linked and autosomal-recessive congenital stationary night blindness is due to the absence of functional TRPM1 in retinal ON bipolar cells.
Journal ArticleDOI
Efficacy, Safety, and Durability of Voretigene Neparvovec-rzyl in RPE65 Mutation-Associated Inherited Retinal Dystrophy: Results of Phase 1 and 3 Trials.
Albert M. Maguire,Albert M. Maguire,Stephen R. Russell,Jennifer Wellman,Daniel C. Chung,Zi-Fan Yu,Amy Tillman,Janet Wittes,Julie Pappas,Okan U. Elci,Kathleen A. Marshall,Sarah McCague,Hannah Reichert,Maria C. Davis,Francesca Simonelli,Bart P. Leroy,J. Fraser Wright,Katherine A. High,Jean Bennett +18 more
TL;DR: After VN gene augmentation therapy, there was a favorable benefit-to-risk profile with similar improvement demonstrated in navigational ability and light sensitivity among 3 groups of subjects with RPE65 mutation-associated IRD, a degenerative disease that progresses to complete blindness.
Journal ArticleDOI
Mutations of VMD2 Splicing Regulators Cause Nanophthalmos and Autosomal Dominant Vitreoretinochoroidopathy (ADVIRC)
Jill Yardley,Bart P. Leroy,Niki Hart-Holden,B. A. Lafaut,Bart Loeys,Ludwine Messiaen,Rahat Perveen,M. Ashwin Reddy,Shomi S. Bhattacharya,Elias I. Traboulsi,Diana Baralle,Jean-Jacques De Laey,Bernard Puech,Philippe Kestelyn,Anthony T. Moore,Forbes D C Manson,Forbes D C Manson,Forbes D C Manson,Graeme C.M. Black,Graeme C.M. Black,Graeme C.M. Black +20 more
TL;DR: The data showed that V MD2 mutations caused defects of ocular patterning, supporting the hypothesized role for the RPE, and specifically VMD2, in the normal growth and development of the eye.
Journal ArticleDOI
Homozygosity mapping reveals PDE6C mutations in patients with early-onset cone photoreceptor disorders.
Alberta A H J Thiadens,Alberta A H J Thiadens,Anneke I. den Hollander,Anneke I. den Hollander,Susanne Roosing,Sander B. Nabuurs,Renate C. Zekveld-Vroon,Rob W.J. Collin,Rob W.J. Collin,Elfride De Baere,Robert K. Koenekoop,Mary J. van Schooneveld,Tim M. Strom,Janneke J.C. van Lith-Verhoeven,Andrew J. Lotery,Norka van Moll-Ramirez,Bart P. Leroy,L. Ingeborgh van den Born,Carel B. Hoyng,Frans P.M. Cremers,Frans P.M. Cremers,Caroline C W Klaver +21 more
TL;DR: The findings identify PDE6C as a gene for cone photoreceptor disorders and show that arCD and ACHM constitute genetically and clinically overlapping phenotypes.