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Table representation of search results timeline featuring number of search results per year.

Year Number of Results
1953 3
1956 2
1969 1
1971 2
1973 1
1974 1
1976 2
1977 1
1978 2
1979 3
1980 1
1982 3
1983 4
1984 5
1985 5
1987 1
1988 8
1989 6
1990 3
1991 3
1992 6
1993 12
1994 4
1995 3
1996 5
1997 2
1998 5
1999 6
2000 6
2001 14
2002 15
2003 15
2004 19
2005 16
2006 16
2007 21
2008 18
2009 22
2010 25
2011 30
2012 40
2013 30
2014 21
2015 41
2016 36
2017 32
2018 34
2019 36
2020 33
2021 46
2022 36
2023 21
2024 36
2025 32
2026 23

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709 results

Results by year

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Page 1
Efficacy and safety of voretigene neparvovec (AAV2-hRPE65v2) in patients with RPE65-mediated inherited retinal dystrophy: a randomised, controlled, open-label, phase 3 trial.
Russell S, Bennett J, Wellman JA, Chung DC, Yu ZF, Tillman A, Wittes J, Pappas J, Elci O, McCague S, Cross D, Marshall KA, Walshire J, Kehoe TL, Reichert H, Davis M, Raffini L, George LA, Hudson FP, Dingfield L, Zhu X, Haller JA, Sohn EH, Mahajan VB, Pfeifer W, Weckmann M, Johnson C, Gewaily D, Drack A, Stone E, Wachtel K, Simonelli F, Leroy BP, Wright JF, High KA, Maguire AM. Russell S, et al. Among authors: leroy bp. Lancet. 2017 Aug 26;390(10097):849-860. doi: 10.1016/S0140-6736(17)31868-8. Epub 2017 Jul 14. Lancet. 2017. PMID: 28712537 Free PMC article. Clinical Trial.
Syndromic retinitis pigmentosa.
Karuntu JS, Almushattat H, Nguyen XT, Plomp AS, Wanders RJA, Hoyng CB, van Schooneveld MJ, Schalij-Delfos NE, Brands MM, Leroy BP, van Karnebeek CDM, Bergen AA, van Genderen MM, Boon CJF. Karuntu JS, et al. Among authors: leroy bp. Prog Retin Eye Res. 2025 Jul;107:101324. doi: 10.1016/j.preteyeres.2024.101324. Epub 2024 Dec 27. Prog Retin Eye Res. 2025. PMID: 39733931 Free article. Review.
Cost-effective sequence analysis of 113 genes in 1,192 probands with retinitis pigmentosa and Leber congenital amaurosis.
Panneman DM, Hitti-Malin RJ, Holtes LK, de Bruijn SE, Reurink J, Boonen EGM, Khan MI, Ali M, Andréasson S, De Baere E, Banfi S, Bauwens M, Ben-Yosef T, Bocquet B, De Bruyne M, de la Cerda B, Coppieters F, Farinelli P, Guignard T, Inglehearn CF, Karali M, Kjellström U, Koenekoop R, de Koning B, Leroy BP, McKibbin M, Meunier I, Nikopoulos K, Nishiguchi KM, Poulter JA, Rivolta C, Rodríguez de la Rúa E, Saunders P, Simonelli F, Tatour Y, Testa F, Thiadens AAHJ, Toomes C, Tracewska AM, Tran HV, Ushida H, Vaclavik V, Verhoeven VJM, van de Vorst M, Gilissen C, Hoischen A, Cremers FPM, Roosing S. Panneman DM, et al. Among authors: leroy bp. Front Cell Dev Biol. 2023 Feb 3;11:1112270. doi: 10.3389/fcell.2023.1112270. eCollection 2023. Front Cell Dev Biol. 2023. PMID: 36819107 Free PMC article.
Bardet-Biedl syndrome improved diagnosis criteria and management: Inter European Reference Networks consensus statement and recommendations.
Dollfus H, Lilien MR, Maffei P, Verloes A, Muller J, Bacci GM, Cetiner M, van den Akker ELT, Grudzinska Pechhacker M, Testa F, Lacombe D, Stokman MF, Simonelli F, Gouronc A, Gavard A, van Haelst MM, Koenig J, Rossignol S, Bergmann C, Zacchia M, Leroy BP, Mosbah H, Van Eerde AM, Mekahli D, Servais A, Poitou C, Valverde D. Dollfus H, et al. Among authors: leroy bp. Eur J Hum Genet. 2024 Nov;32(11):1347-1360. doi: 10.1038/s41431-024-01634-7. Epub 2024 Jul 31. Eur J Hum Genet. 2024. PMID: 39085583 Free PMC article. Review.
Stickler syndrome caused by COL2A1 mutations: genotype-phenotype correlation in a series of 100 patients.
Hoornaert KP, Vereecke I, Dewinter C, Rosenberg T, Beemer FA, Leroy JG, Bendix L, Björck E, Bonduelle M, Boute O, Cormier-Daire V, De Die-Smulders C, Dieux-Coeslier A, Dollfus H, Elting M, Green A, Guerci VI, Hennekam RC, Hilhorts-Hofstee Y, Holder M, Hoyng C, Jones KJ, Josifova D, Kaitila I, Kjaergaard S, Kroes YH, Lagerstedt K, Lees M, Lemerrer M, Magnani C, Marcelis C, Martorell L, Mathieu M, McEntagart M, Mendicino A, Morton J, Orazio G, Paquis V, Reish O, Simola KO, Smithson SF, Temple KI, Van Aken E, Van Bever Y, van den Ende J, Van Hagen JM, Zelante L, Zordania R, De Paepe A, Leroy BP, De Buyzere M, Coucke PJ, Mortier GR. Hoornaert KP, et al. Among authors: leroy bp. Eur J Hum Genet. 2010 Aug;18(8):872-80. doi: 10.1038/ejhg.2010.23. Epub 2010 Feb 24. Eur J Hum Genet. 2010. PMID: 20179744 Free PMC article.
De novo and inherited dominant variants in U4 and U6 snRNAs cause retinitis pigmentosa.
Quinodoz M, Rodenburg K, Cvackova Z, Kaminska K, de Bruijn SE, Iglesias-Romero AB, Boonen EGM, Ullah M, Zomer N, Folcher M, Bijon J, Holtes LK, Tsang SH, Corradi Z, Freund KB, Shliaga S, Panneman DM, Hitti-Malin RJ, Ali M, AlTalbishi A, Andréasson S, Ansari G, Arno G, Astuti GDN, Ayuso C, Ayyagari R, Banfi S, Banin E, Barboni MTS, Bauwens M, Ben-Yosef T, Birch DG, Biswas P, Blanco-Kelly F, Bocquet B, Boon CJF, Branham K, Britten-Jones AC, Bujakowska KM, Cadena EL, Calzetti G, Cancellieri F, Cattaneo L, Issa PC, Chadderton N, Coutinho-Santos L, Daiger SP, De Baere E, de la Cerda B, De Roach JN, De Zaeytijd J, Derks R, Dhaenens CM, Dudakova L, Duncan JL, Farrar GJ, Feltgen N, Fernández-Caballero L, Sallum JMF, Gana S, Garanto A, Gardner JC, Gilissen C, Goto K, Gonzàlez-Duarte R, Griffiths-Jones S, Haack TB, Haer-Wigman L, Hardcastle AJ, Hayashi T, Héon E, Hoischen A, Holtan JP, Hoyng CB, Ibanez MBB 4th, Inglehearn CF, Iwata T, Jones K, Kalatzis V, Kamakari S, Karali M, Kellner U, Knézy K, Klaver CCW, Koenekoop RK, Kohl S, Kominami T, Kühlewein L, Lamey TM, Leroy BP, Martín-Gutiérrez MP, Martins N, Mauring L, Leibu R, Lin S, Liskova P, Lopez I, López-Rodríguez VRJ, Mahroo OA, … See abstract for full author list ➔ Quinodoz M, et al. Among authors: leroy bp. medRxiv [Preprint]. 2025 Jan 6:2025.01.06.24317169. doi: 10.1101/2025.01.06.24317169. medRxiv. 2025. Update in: Nat Genet. 2026 Jan;58(1):169-179. doi: 10.1038/s41588-025-02451-4. PMID: 39830270 Free PMC article. Updated. Preprint.
Hydroxychloroquine hitting the headlines-retinal considerations.
Downes SM, Leroy BP, Sharma SM, Sivaprasad S, Dollfus H. Downes SM, et al. Among authors: leroy bp. Eye (Lond). 2020 Jul;34(7):1158-1160. doi: 10.1038/s41433-020-0934-9. Epub 2020 May 19. Eye (Lond). 2020. PMID: 32427967 Free PMC article. No abstract available.
Bi-allelic variants in three genes encoding distinct subunits of the vesicular AP-5 complex cause hereditary macular dystrophy.
Kaminska K, Cancellieri F, Quinodoz M, Moye AR, Bauwens M, Lin S, Janeschitz-Kriegl L, Hayman T, Barberán-Martínez P, Schlaeger R, Van den Broeck F, Ávila Fernández A, Fernández-Caballero L, Perea-Romero I, García-García G, Salom D, Mazzola P, Zuleger T, Poths K, Haack TB, Jacob J, Vermeer S, Terbeek F, Feltgen N, Moulin AP, Koutroumanou L, Papadakis G, Browning AC, Madhusudhan S, Gränse L, Banin E, Sousa AB, Coutinho Santos L, Kuehlewein L, De Angeli P, Leroy BP, Mahroo OA, Sedgwick F, Eden J, Pfau M, Andréasson S, Scholl HPN, Ayuso C, Millán JM, Sharon D, Tsilimbaris MK, Vaclavik V, Tran HV, Ben-Yosef T, De Baere E, Webster AR, Arno G, Sergouniotis PI, Kohl S, Santos C, Rivolta C. Kaminska K, et al. Among authors: leroy bp. Am J Hum Genet. 2025 Apr 3;112(4):808-828. doi: 10.1016/j.ajhg.2025.02.015. Epub 2025 Mar 12. Am J Hum Genet. 2025. PMID: 40081374 Free PMC article.
Reply.
Foveau P, Leroy B, Berrod JP, Conart JB. Foveau P, et al. Among authors: leroy b. Am J Ophthalmol. 2018 Nov;195:244-245. doi: 10.1016/j.ajo.2018.07.039. Epub 2018 Sep 1. Am J Ophthalmol. 2018. PMID: 30177217 No abstract available.
709 results