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Page 1
Combining a prioritization strategy and functional studies nominates 5'UTR variants underlying inherited retinal disease.
Dueñas Rey A, Del Pozo Valero M, Bouckaert M, Wood KA, Van den Broeck F, Daich Varela M, Thomas HB, Van Heetvelde M, De Bruyne M, Van de Sompele S, Bauwens M, Lenaerts H, Mahieu Q, Josifova D; Genomics England Research Consortium; Rivolta C, O'Keefe RT, Ellingford J, Webster AR, Arno G, Ayuso C, De Zaeytijd J, Leroy BP, De Baere E, Coppieters F. Dueñas Rey A, et al. Among authors: rivolta c. Genome Med. 2024 Jan 6;16(1):7. doi: 10.1186/s13073-023-01277-1. Genome Med. 2024. PMID: 38184646 Free PMC article.
TBC1D32 variants disrupt retinal ciliogenesis and cause retinitis pigmentosa.
Bocquet B, Borday C, Erkilic N, Mamaeva D, Donval A, Masson C, Parain K, Kaminska K, Quinodoz M, Perea-Romero I, Garcia-Garcia G, Jimenez-Medina C, Boukhaddaoui H, Coget A, Leboucq N, Calzetti G, Gandolfi S, Percesepe A, Barili V, Uliana V, Delsante M, Bozzetti F, Scholl HP, Corton M, Ayuso C, Millan JM, Rivolta C, Meunier I, Perron M, Kalatzis V. Bocquet B, et al. Among authors: rivolta c. JCI Insight. 2023 Nov 8;8(21):e169426. doi: 10.1172/jci.insight.169426. JCI Insight. 2023. PMID: 37768732 Free PMC article.
GNB1-Related Rod-Cone Dystrophy: A Case Report.
Conti GM, Cancellieri F, Quinodoz M, Kaminska K, Vaclavik V, Rivolta C, Tran HV. Conti GM, et al. Among authors: rivolta c. Case Rep Ophthalmol. 2024 Mar 18;15(1):230-237. doi: 10.1159/000537997. eCollection 2024 Jan-Dec. Case Rep Ophthalmol. 2024. PMID: 38500542 Free PMC article.
Retinal oxygen metabolic function in choroideremia and retinitis pigmentosa.
Prétot D, Della Volpe Waizel M, Kaminska K, Valmaggia P, Placidi G, Falsini B, Fries FN, Szentmáry N, Rivolta C, Scholl HPN, Calzetti G. Prétot D, et al. Among authors: rivolta c. Graefes Arch Clin Exp Ophthalmol. 2024 Oct 12. doi: 10.1007/s00417-024-06659-8. Online ahead of print. Graefes Arch Clin Exp Ophthalmol. 2024. PMID: 39394491
A Unique Presentation of Bilateral Chorioretinal Atrophy.
Grosso A, Yannuzzi LA, Tsang SH, Ceruti P, Sarraf D, Zamir E, Kaminska K, Quinodoz M, Amoroso A, Deaglio S, Francis JH, Fioretto M, Rivolta C, Calzetti G. Grosso A, et al. Among authors: rivolta c. Asia Pac J Ophthalmol (Phila). 2023 Sep-Oct 01;12(5):500-501. doi: 10.1097/APO.0000000000000563. Epub 2022 Oct 28. Asia Pac J Ophthalmol (Phila). 2023. PMID: 36650090 Free article. No abstract available.
High-efficiency base editing in the retina in primates and human tissues.
Muller A, Sullivan J, Schwarzer W, Wang M, Park-Windhol C, Hasler PW, Janeschitz-Kriegl L, Duman M, Klingler B, Matsell J, Hostettler SM, Galliker P, Hou Y, Balmer P, Virág T, Barrera LA, Young L, Xu Q, Magda DP, Kilin F, Khadka A, Moreau PH, Fellmann L, Azoulay T, Quinodoz M, Karademir D, Leppert J, Fratzl A, Kosche G, Sharma R, Montford J, Cattaneo M, Croyal M, Cronin T, Picelli S, Grison A, Cowan CS, Kusnyerik Á, Anders P, Renner M, Nagy ZZ, Szabó A, Bharti K, Rivolta C, Scholl HPN, Bryson D, Ciaramella G, Roska B, György B. Muller A, et al. Among authors: rivolta c. Nat Med. 2025 Jan 8. doi: 10.1038/s41591-024-03422-8. Online ahead of print. Nat Med. 2025. PMID: 39779923
Variants in the AGBL5 gene are responsible for autosomal recessive Retinitis pigmentosa with hearing loss.
Karali M, García-García G, Kaminska K, AlTalbishi A, Cancellieri F, Testa F, Barillari MR, Panagiotou ES, Psillas G, Vaclavik V, Tran VH, Janeschitz-Kriegl L, Scholl HP, Salameh M, Barberán-Martínez P, Rodríguez-Muñoz A, Armengot M, Scarpato M, Zeuli R, Quinodoz M, Simonelli F, Rivolta C, Banfi S, Millán JM. Karali M, et al. Among authors: rivolta c. Eur J Hum Genet. 2024 Dec 13. doi: 10.1038/s41431-024-01768-8. Online ahead of print. Eur J Hum Genet. 2024. PMID: 39672920
231 results