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Ensembl Genomes 2022: an expanding genome resource for non-vertebrates.
Yates AD, Allen J, Amode RM, Azov AG, Barba M, Becerra A, Bhai J, Campbell LI, Carbajo Martinez M, Chakiachvili M, Chougule K, Christensen M, Contreras-Moreira B, Cuzick A, Da Rin Fioretto L, Davis P, De Silva NH, Diamantakis S, Dyer S, Elser J, Filippi CV, Gall A, Grigoriadis D, Guijarro-Clarke C, Gupta P, Hammond-Kosack KE, Howe KL, Jaiswal P, Kaikala V, Kumar V, Kumari S, Langridge N, Le T, Luypaert M, Maslen GL, Maurel T, Moore B, Muffato M, Mushtaq A, Naamati G, Naithani S, Olson A, Parker A, Paulini M, Pedro H, Perry E, Preece J, Quinton-Tulloch M, Rodgers F, Rosello M, Ruffier M, Seager J, Sitnik V, Szpak M, Tate J, Tello-Ruiz MK, Trevanion SJ, Urban M, Ware D, Wei S, Williams G, Winterbottom A, Zarowiecki M, Finn RD, Flicek P. Yates AD, et al. Among authors: rosello m. Nucleic Acids Res. 2022 Jan 7;50(D1):D996-D1003. doi: 10.1093/nar/gkab1007. Nucleic Acids Res. 2022. PMID: 34791415 Free PMC article.
Ensembl Genomes 2020-enabling non-vertebrate genomic research.
Howe KL, Contreras-Moreira B, De Silva N, Maslen G, Akanni W, Allen J, Alvarez-Jarreta J, Barba M, Bolser DM, Cambell L, Carbajo M, Chakiachvili M, Christensen M, Cummins C, Cuzick A, Davis P, Fexova S, Gall A, George N, Gil L, Gupta P, Hammond-Kosack KE, Haskell E, Hunt SE, Jaiswal P, Janacek SH, Kersey PJ, Langridge N, Maheswari U, Maurel T, McDowall MD, Moore B, Muffato M, Naamati G, Naithani S, Olson A, Papatheodorou I, Patricio M, Paulini M, Pedro H, Perry E, Preece J, Rosello M, Russell M, Sitnik V, Staines DM, Stein J, Tello-Ruiz MK, Trevanion SJ, Urban M, Wei S, Ware D, Williams G, Yates AD, Flicek P. Howe KL, et al. Among authors: rosello m. Nucleic Acids Res. 2020 Jan 8;48(D1):D689-D695. doi: 10.1093/nar/gkz890. Nucleic Acids Res. 2020. PMID: 31598706 Free PMC article.
Scripting Analyses of Genomes in Ensembl Plants.
Contreras-Moreira B, Naamati G, Rosello M, Allen JE, Hunt SE, Muffato M, Gall A, Flicek P. Contreras-Moreira B, et al. Among authors: rosello m. Methods Mol Biol. 2022;2443:27-55. doi: 10.1007/978-1-0716-2067-0_2. Methods Mol Biol. 2022. PMID: 35037199 Free PMC article.
The European Nucleotide Archive in 2018.
Harrison PW, Alako B, Amid C, Cerdeño-Tárraga A, Cleland I, Holt S, Hussein A, Jayathilaka S, Kay S, Keane T, Leinonen R, Liu X, Martínez-Villacorta J, Milano A, Pakseresht N, Rajan J, Reddy K, Richards E, Rosello M, Silvester N, Smirnov D, Toribio AL, Vijayaraja S, Cochrane G. Harrison PW, et al. Among authors: rosello m. Nucleic Acids Res. 2019 Jan 8;47(D1):D84-D88. doi: 10.1093/nar/gky1078. Nucleic Acids Res. 2019. PMID: 30395270 Free PMC article.
European Nucleotide Archive in 2016.
Toribio AL, Alako B, Amid C, Cerdeño-Tarrága A, Clarke L, Cleland I, Fairley S, Gibson R, Goodgame N, Ten Hoopen P, Jayathilaka S, Kay S, Leinonen R, Liu X, Martínez-Villacorta J, Pakseresht N, Rajan J, Reddy K, Rosello M, Silvester N, Smirnov D, Vaughan D, Zalunin V, Cochrane G. Toribio AL, et al. Among authors: rosello m. Nucleic Acids Res. 2017 Jan 4;45(D1):D32-D36. doi: 10.1093/nar/gkw1106. Epub 2016 Nov 29. Nucleic Acids Res. 2017. PMID: 27899630 Free PMC article.
De novo missense variants in phosphatidylinositol kinase PIP5KIγ underlie a neurodevelopmental syndrome associated with altered phosphoinositide signaling.
Morleo M, Venditti R, Theodorou E, Briere LC, Rosello M, Tirozzi A, Tammaro R, Al-Badri N, High FA, Shi J; Undiagnosed Diseases Network; Telethon Undiagnosed Diseases Program; Putti E, Ferrante L, Cetrangolo V, Torella A, Walker MA, Tenconi R, Iascone M, Mei D, Guerrini R, van der Smagt J, Kroes HY, van Gassen KLI, Bilal M, Umair M, Pingault V, Attie-Bitach T, Amiel J, Ejaz R, Rodan L, Zollino M, Agrawal PB, Del Bene F, Nigro V, Sweetser DA, Franco B. Morleo M, et al. Among authors: rosello m. Am J Hum Genet. 2023 Aug 3;110(8):1377-1393. doi: 10.1016/j.ajhg.2023.06.012. Epub 2023 Jul 13. Am J Hum Genet. 2023. PMID: 37451268 Free PMC article.
130 results