Voretigene Neparvovec for the Treatment of RPE65-Associated Retinal Dystrophy: Consensus and Recommendations from Korea RPE65-IRD Consensus Paper Committee.
Korean Journal Of Ophthalmology : Kjo
Han, Jinu J; Joo, Kwangsic K; Kim, Ungsoo Samuel US; Woo, Se Joon SJ; Lee, Eun Kyoung EK; Lee, Joo Yong JY; Park, Tae Kwann TK; Kim, Sang Jin SJ; Byeon, Suk Ho SH; ,
Network expansion of genetic associations defines a pleiotropy map of human cell biology.
Nature Genetics
Barrio-Hernandez, Inigo I; Schwartzentruber, Jeremy J; Shrivastava, Anjali A; Del-Toro, Noemi N; Gonzalez, Asier A; Zhang, Qian Q; Mountjoy, Edward E; Suveges, Daniel D; Ochoa, David D; Ghoussaini, Maya M; Bradley, Glyn G; Hermjakob, Henning H; Orchard, Sandra S; Dunham, Ian I; Anderson, Carl A CA; Porras, Pablo P; Beltrao, Pedro P
Publication Date: 2023-02-23
Variant appearance in text: RPE65: 1543C>T; Arg515Trp
Gene Therapy with Voretigene Neparvovec Improves Vision and Partially Restores Electrophysiological Function in Pre-School Children with Leber Congenital Amaurosis.
Biomedicines
Gerhardt, Maximilian J MJ; Priglinger, Claudia S CS; Rudolph, Günther G; Hufendiek, Karsten K; Framme, Carsten C; Jägle, Herbert H; Salchow, Daniel J DJ; Anschütz, Andreas A; Michalakis, Stylianos S; Priglinger, Siegfried G SG
Genetic epidemiology of inherited retinal diseases in a large patient cohort followed at a single center in Italy.
Scientific Reports
Karali, Marianthi M; Testa, Francesco F; Di Iorio, Valentina V; Torella, Annalaura A; Zeuli, Roberta R; Scarpato, Margherita M; Romano, Francesca F; Onore, Maria Elena ME; Pizzo, Mariateresa M; Melillo, Paolo P; Brunetti-Pierri, Raffaella R; Passerini, Ilaria I; Pelo, Elisabetta E; Cremers, Frans P M FPM; Esposito, Gabriella G; Nigro, Vincenzo V; Simonelli, Francesca F; Banfi, Sandro S
Publication Date: 2022-12-02
Variant appearance in text: RPE65: 1543C>T; Arg515Trp
Visual function and retinal changes after voretigene neparvovec treatment in children with biallelic RPE65-related inherited retinal dystrophy.
Scientific Reports
Testa, Francesco F; Melillo, Paolo P; Di Iorio, Valentina V; Iovino, Claudio C; Farinaro, Francesco F; Karali, Marianthi M; Banfi, Sandro S; Rossi, Settimio S; Della Corte, Michele M; Simonelli, Francesca F
Retinal Structure in RPE65-Associated Retinal Dystrophy.
Investigative Ophthalmology & Visual Science
Kumaran, Neruban N; Georgiou, Michalis M; Bainbridge, James W B JWB; Bertelsen, Mette M; Larsen, Michael M; Blanco-Kelly, Fiona F; Ayuso, Carmen C; Tran, Hoai Viet HV; Munier, Francis L FL; Kalitzeos, Angelos A; Michaelides, Michel M
Assessing the Pathogenicity, Penetrance, and Expressivity of Putative Disease-Causing Variants in a Population Setting.
American Journal Of Human Genetics
Wright, Caroline F CF; West, Ben B; Tuke, Marcus M; Jones, Samuel E SE; Patel, Kashyap K; Laver, Thomas W TW; Beaumont, Robin N RN; Tyrrell, Jessica J; Wood, Andrew R AR; Frayling, Timothy M TM; Hattersley, Andrew T AT; Weedon, Michael N MN
Publication Date: 2019-02-07
Variant appearance in text: RPE65: R515W; rs121917745
The Natural History of Inherited Retinal Dystrophy Due to Biallelic Mutations in the RPE65 Gene.
American Journal Of Ophthalmology
Chung, Daniel C DC; Bertelsen, Mette M; Lorenz, Birgit B; Pennesi, Mark E ME; Leroy, Bart P BP; Hamel, Christian P CP; Pierce, Eric E; Sallum, Juliana J; Larsen, Michael M; Stieger, Knut K; Preising, Markus M; Weleber, Richard R; Yang, Paul P; Place, Emily E; Liu, Emily E; Schaefer, Grace G; DiStefano-Pappas, Julie J; Elci, Okan U OU; McCague, Sarah S; Wellman, Jennifer A JA; High, Katherine A KA; Reape, Kathleen Z KZ
Publication Date: 2019-03
Variant appearance in text: RPE65: 1543C>T; Arg515Trp
Comprehensive genotyping reveals RPE65 as the most frequently mutated gene in Leber congenital amaurosis in Denmark.
European Journal Of Human Genetics : Ejhg
Astuti, Galuh D N GD; Bertelsen, Mette M; Preising, Markus N MN; Ajmal, Muhammad M; Lorenz, Birgit B; Faradz, Sultana M H SM; Qamar, Raheel R; Collin, Rob W J RW; Rosenberg, Thomas T; Cremers, Frans P M FP