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Structural Variants Create New Topological-Associated Domains and Ectopic Retinal Enhancer-Gene Contact in Dominant Retinitis Pigmentosa.
de Bruijn SE, Fiorentino A, Ottaviani D, Fanucchi S, Melo US, Corral-Serrano JC, Mulders T, Georgiou M, Rivolta C, Pontikos N, Arno G, Roberts L, Greenberg J, Albert S, Gilissen C, Aben M, Rebello G, Mead S, Raymond FL, Corominas J, Smith CEL, Kremer H, Downes S, Black GC, Webster AR, Inglehearn CF, van den Born LI, Koenekoop RK, Michaelides M, Ramesar RS, Hoyng CB, Mundlos S, Mhlanga MM, Cremers FPM, Cheetham ME, Roosing S, Hardcastle AJ. de Bruijn SE, et al. Among authors: ottaviani d. Am J Hum Genet. 2020 Nov 5;107(5):802-814. doi: 10.1016/j.ajhg.2020.09.002. Epub 2020 Oct 5. Am J Hum Genet. 2020. PMID: 33022222 Free PMC article.
Modeling and Rescue of RP2 Retinitis Pigmentosa Using iPSC-Derived Retinal Organoids.
Lane A, Jovanovic K, Shortall C, Ottaviani D, Panes AB, Schwarz N, Guarascio R, Hayes MJ, Palfi A, Chadderton N, Farrar GJ, Hardcastle AJ, Cheetham ME. Lane A, et al. Among authors: ottaviani d. Stem Cell Reports. 2020 Jul 14;15(1):67-79. doi: 10.1016/j.stemcr.2020.05.007. Epub 2020 Jun 11. Stem Cell Reports. 2020. PMID: 32531192 Free PMC article.
DYNC2H1 hypomorphic or retina-predominant variants cause nonsyndromic retinal degeneration.
Vig A, Poulter JA, Ottaviani D, Tavares E, Toropova K, Tracewska AM, Mollica A, Kang J, Kehelwathugoda O, Paton T, Maynes JT, Wheway G, Arno G; Genomics England Research Consortium; Khan KN, McKibbin M, Toomes C, Ali M, Di Scipio M, Li S, Ellingford J, Black G, Webster A, Rydzanicz M, Stawiński P, Płoski R, Vincent A, Cheetham ME, Inglehearn CF, Roberts A, Heon E. Vig A, et al. Among authors: ottaviani d. Genet Med. 2020 Dec;22(12):2041-2051. doi: 10.1038/s41436-020-0915-1. Epub 2020 Aug 5. Genet Med. 2020. PMID: 32753734 Free PMC article.
Eupatilin Improves Cilia Defects in Human CEP290 Ciliopathy Models.
Corral-Serrano JC, Sladen PE, Ottaviani D, Rezek OF, Athanasiou D, Jovanovic K, van der Spuy J, Mansfield BC, Cheetham ME. Corral-Serrano JC, et al. Among authors: ottaviani d. Cells. 2023 Jun 7;12(12):1575. doi: 10.3390/cells12121575. Cells. 2023. PMID: 37371046 Free PMC article.
Maturation of hiPSC-derived cardiomyocytes promotes adult alternative splicing of SCN5A and reveals changes in sodium current associated with cardiac arrhythmia.
Campostrini G, Kosmidis G, Ward-van Oostwaard D, Davis RP, Yiangou L, Ottaviani D, Veerman CC, Mei H, Orlova VV, Wilde AAM, Bezzina CR, Verkerk AO, Mummery CL, Bellin M. Campostrini G, et al. Among authors: ottaviani d. Cardiovasc Res. 2023 Mar 17;119(1):167-182. doi: 10.1093/cvr/cvac059. Cardiovasc Res. 2023. PMID: 35394010 Free PMC article.
Artificial intelligence of imaging and clinical neurological data for predictive, preventive and personalized (P3) medicine for Parkinson Disease: The NeuroArtP3 protocol for a multi-center research study.
Malaguti MC, Gios L, Giometto B, Longo C, Riello M, Ottaviani D, Pellegrini M, Di Giacopo R, Donner D, Rozzanigo U, Chierici M, Moroni M, Jurman G, Bincoletto G, Pardini M, Bacchin R, Nobili F, Di Biasio F, Avanzino L, Marchese R, Mandich P, Garbarino S, Pagano M, Campi C, Piana M, Marenco M, Uccelli A, Osmani V. Malaguti MC, et al. Among authors: ottaviani d. PLoS One. 2024 Mar 14;19(3):e0300127. doi: 10.1371/journal.pone.0300127. eCollection 2024. PLoS One. 2024. PMID: 38483951 Free PMC article.
134 results