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

Year Number of Results
1965 1
1985 1
1986 1
1987 2
1988 2
1989 4
1990 5
1991 1
1992 1
1993 1
1996 2
1998 2
1999 2
2000 1
2001 4
2002 4
2003 3
2004 2
2005 3
2006 5
2007 6
2008 4
2009 2
2010 5
2011 13
2012 10
2013 12
2014 9
2015 14
2016 15
2017 19
2018 13
2019 13
2020 12
2021 27
2022 19
2023 20
2024 11

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244 results

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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: simonelli f. 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.
Reply.
Newman H, Perlman I, Pras E, Rozenberg A, Ben-Yosef T, Iovino C, Simonelli F, Di Iorio V, Rotenstreich Y, Katzburg E, Ehrenberg M, Iglicki M, Zur D. Newman H, et al. Among authors: simonelli f. Retina. 2022 Oct 1;42(10):e49. doi: 10.1097/IAE.0000000000003564. Retina. 2022. PMID: 36129272 No abstract available.
Genetic epidemiology of inherited retinal diseases in a large patient cohort followed at a single center in Italy.
Karali M, Testa F, Di Iorio V, Torella A, Zeuli R, Scarpato M, Romano F, Onore ME, Pizzo M, Melillo P, Brunetti-Pierri R, Passerini I, Pelo E, Cremers FPM, Esposito G, Nigro V, Simonelli F, Banfi S. Karali M, et al. Among authors: simonelli f. Sci Rep. 2022 Dec 2;12(1):20815. doi: 10.1038/s41598-022-24636-1. Sci Rep. 2022. PMID: 36460718 Free PMC article.
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: simonelli f. 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.
Intein-mediated protein trans-splicing expands adeno-associated virus transfer capacity in the retina.
Tornabene P, Trapani I, Minopoli R, Centrulo M, Lupo M, de Simone S, Tiberi P, Dell'Aquila F, Marrocco E, Iodice C, Iuliano A, Gesualdo C, Rossi S, Giaquinto L, Albert S, Hoyng CB, Polishchuk E, Cremers FPM, Surace EM, Simonelli F, De Matteis MA, Polishchuk R, Auricchio A. Tornabene P, et al. Among authors: simonelli f. Sci Transl Med. 2019 May 15;11(492):eaav4523. doi: 10.1126/scitranslmed.aav4523. Sci Transl Med. 2019. PMID: 31092694 Free PMC article.
An innovative strategy for the molecular diagnosis of Usher syndrome identifies causal biallelic mutations in 93% of European patients.
Bonnet C, Riahi Z, Chantot-Bastaraud S, Smagghe L, Letexier M, Marcaillou C, Lefèvre GM, Hardelin JP, El-Amraoui A, Singh-Estivalet A, Mohand-Saïd S, Kohl S, Kurtenbach A, Sliesoraityte I, Zobor D, Gherbi S, Testa F, Simonelli F, Banfi S, Fakin A, Glavač D, Jarc-Vidmar M, Zupan A, Battelino S, Martorell Sampol L, Claveria MA, Catala Mora J, Dad S, Møller LB, Rodriguez Jorge J, Hawlina M, Auricchio A, Sahel JA, Marlin S, Zrenner E, Audo I, Petit C. Bonnet C, et al. Among authors: simonelli f. Eur J Hum Genet. 2016 Dec;24(12):1730-1738. doi: 10.1038/ejhg.2016.99. Epub 2016 Jul 27. Eur J Hum Genet. 2016. PMID: 27460420 Free PMC article.
Safety and efficacy of gene transfer for Leber's congenital amaurosis.
Maguire AM, Simonelli F, Pierce EA, Pugh EN Jr, Mingozzi F, Bennicelli J, Banfi S, Marshall KA, Testa F, Surace EM, Rossi S, Lyubarsky A, Arruda VR, Konkle B, Stone E, Sun J, Jacobs J, Dell'Osso L, Hertle R, Ma JX, Redmond TM, Zhu X, Hauck B, Zelenaia O, Shindler KS, Maguire MG, Wright JF, Volpe NJ, McDonnell JW, Auricchio A, High KA, Bennett J. Maguire AM, et al. Among authors: simonelli f. N Engl J Med. 2008 May 22;358(21):2240-8. doi: 10.1056/NEJMoa0802315. Epub 2008 Apr 27. N Engl J Med. 2008. PMID: 18441370 Free PMC article. Clinical Trial.
Resolving the dark matter of ABCA4 for 1054 Stargardt disease probands through integrated genomics and transcriptomics.
Khan M, Cornelis SS, Pozo-Valero MD, Whelan L, Runhart EH, Mishra K, Bults F, AlSwaiti Y, AlTalbishi A, De Baere E, Banfi S, Banin E, Bauwens M, Ben-Yosef T, Boon CJF, van den Born LI, Defoort S, Devos A, Dockery A, Dudakova L, Fakin A, Farrar GJ, Sallum JMF, Fujinami K, Gilissen C, Glavač D, Gorin MB, Greenberg J, Hayashi T, Hettinga YM, Hoischen A, Hoyng CB, Hufendiek K, Jägle H, Kamakari S, Karali M, Kellner U, Klaver CCW, Kousal B, Lamey TM, MacDonald IM, Matynia A, McLaren TL, Mena MD, Meunier I, Miller R, Newman H, Ntozini B, Oldak M, Pieterse M, Podhajcer OL, Puech B, Ramesar R, Rüther K, Salameh M, Salles MV, Sharon D, Simonelli F, Spital G, Steehouwer M, Szaflik JP, Thompson JA, Thuillier C, Tracewska AM, van Zweeden M, Vincent AL, Zanlonghi X, Liskova P, Stöhr H, Roach JN, Ayuso C, Roberts L, Weber BHF, Dhaenens CM, Cremers FPM. Khan M, et al. Among authors: simonelli f. Genet Med. 2020 Jul;22(7):1235-1246. doi: 10.1038/s41436-020-0787-4. Epub 2020 Apr 20. Genet Med. 2020. PMID: 32307445 Free article.
Efficacy, Safety, and Durability of Voretigene Neparvovec-rzyl in RPE65 Mutation-Associated Inherited Retinal Dystrophy: Results of Phase 1 and 3 Trials.
Maguire AM, Russell S, Wellman JA, Chung DC, Yu ZF, Tillman A, Wittes J, Pappas J, Elci O, Marshall KA, McCague S, Reichert H, Davis M, Simonelli F, Leroy BP, Wright JF, High KA, Bennett J. Maguire AM, et al. Among authors: simonelli f. Ophthalmology. 2019 Sep;126(9):1273-1285. doi: 10.1016/j.ophtha.2019.06.017. Epub 2019 Jun 22. Ophthalmology. 2019. PMID: 31443789 Free article. Clinical Trial.
A multidisciplinary approach to inherited retinal dystrophies from diagnosis to initial care: a narrative review with inputs from clinical practice.
Murro V, Banfi S, Testa F, Iarossi G, Falsini B, Sodi A, Signorini S, Iolascon A, Russo R, Mucciolo DP, Caputo R, Bacci GM, Bargiacchi S, Turco S, Fortini S, Simonelli F. Murro V, et al. Among authors: simonelli f. Orphanet J Rare Dis. 2023 Jul 31;18(1):223. doi: 10.1186/s13023-023-02798-z. Orphanet J Rare Dis. 2023. PMID: 37525225 Free PMC article. Review.
244 results