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Page 1
De novo intrachromosomal gene conversion from OPN1MW to OPN1LW in the male germline results in Blue Cone Monochromacy.
Buena-Atienza E, Rüther K, Baumann B, Bergholz R, Birch D, De Baere E, Dollfus H, Greally MT, Gustavsson P, Hamel CP, Heckenlively JR, Leroy BP, Plomp AS, Pott JW, Rose K, Rosenberg T, Stark Z, Verheij JB, Weleber R, Zobor D, Weisschuh N, Kohl S, Wissinger B. Buena-Atienza E, et al. Sci Rep. 2016 Jun 24;6:28253. doi: 10.1038/srep28253. Sci Rep. 2016. PMID: 27339364 Free PMC article.
The landscape of submicroscopic structural variants at the OPN1LW/OPN1MW gene cluster on Xq28 underlying blue cone monochromacy.
Wissinger B, Baumann B, Buena-Atienza E, Ravesh Z, Cideciyan AV, Stingl K, Audo I, Meunier I, Bocquet B, Traboulsi EI, Hardcastle AJ, Gardner JC, Michaelides M, Branham KE, Rosenberg T, Andreasson S, Dollfus H, Birch D, Vincent AL, Martorell L, Català Mora J, Kellner U, Rüther K, Lorenz B, Preising MN, Manfredini E, Zarate YA, Vijzelaar R, Zrenner E, Jacobson SG, Kohl S. Wissinger B, et al. Among authors: buena atienza e. Proc Natl Acad Sci U S A. 2022 Jul 5;119(27):e2115538119. doi: 10.1073/pnas.2115538119. Epub 2022 Jun 27. Proc Natl Acad Sci U S A. 2022. PMID: 35759666 Free PMC article.
Splicing mutations in inherited retinal diseases.
Weisschuh N, Buena-Atienza E, Wissinger B. Weisschuh N, et al. Prog Retin Eye Res. 2021 Jan;80:100874. doi: 10.1016/j.preteyeres.2020.100874. Epub 2020 Jun 15. Prog Retin Eye Res. 2021. PMID: 32553897 Review.
Retinitis pigmentosa: impact of different Pde6a point mutations on the disease phenotype.
Sothilingam V, Garcia Garrido M, Jiao K, Buena-Atienza E, Sahaboglu A, Trifunović D, Balendran S, Koepfli T, Mühlfriedel R, Schön C, Biel M, Heckmann A, Beck SC, Michalakis S, Wissinger B, Seeliger MW, Paquet-Durand F. Sothilingam V, et al. Hum Mol Genet. 2015 Oct 1;24(19):5486-99. doi: 10.1093/hmg/ddv275. Epub 2015 Jul 17. Hum Mol Genet. 2015. PMID: 26188004
Multisystemic neurodegeneration caused by biallelic pentanucleotide expansions in RFC1.
Herrmann L, Gelderblom M, Bester M, Deininger N, Schütze T, Hidding U, Gross C, Buena-Atienza E, Dufke C, Gerloff C, Haack TB, Zittel S. Herrmann L, et al. Among authors: buena atienza e. Parkinsonism Relat Disord. 2022 Feb;95:54-56. doi: 10.1016/j.parkreldis.2022.01.001. Epub 2022 Jan 6. Parkinsonism Relat Disord. 2022. PMID: 35030450 No abstract available.
Efficient hybrid de novo assembly of human genomes with WENGAN.
Di Genova A, Buena-Atienza E, Ossowski S, Sagot MF. Di Genova A, et al. Nat Biotechnol. 2021 Apr;39(4):422-430. doi: 10.1038/s41587-020-00747-w. Epub 2020 Dec 14. Nat Biotechnol. 2021. PMID: 33318652 Free PMC article.
Author Correction: The European Reference Genome Atlas: piloting a decentralised approach to equitable biodiversity genomics.
Mc Cartney AM, Formenti G, Mouton A, De Panis D, Marins LS, Leitão HG, Diedericks G, Kirangwa J, Morselli M, Salces-Ortiz J, Escudero N, Iannucci A, Natali C, Svardal H, Fernández R, De Pooter T, Joris G, Strazisar M, Wood JMD, Herron KE, Seehausen O, Watts PC, Shaw F, Davey RP, Minotto A, Fernández JM, Böhne A, Alegria C, Alioto T, Alves PC, Amorim IR, Aury JM, Backstrom N, Baldrian P, Baltrunaite L, Barta E, BedHom B, Belser C, Bergsten J, Bertrand L, Bilandija H, Binzer-Panchal M, Bista I, Blaxter M, Borges PAV, Dias GB, Bosse M, Brown T, Bruggmann R, Buena-Atienza E, Burgin J, Buzan E, Cariani A, Casadei N, Chiara M, Chozas S, Čiampor F Jr, Crottini A, Cruaud C, Cruz F, Dalen L, De Biase A, Del Campo J, Delic T, Dennis AB, Derks MFL, Diroma MA, Djan M, Duprat S, Eleftheriadi K, Feulner PGD, Flot JF, Forni G, Fosso B, Fournier P, Fournier-Chambrillon C, Gabaldon T, Garg S, Gissi C, Giupponi L, Gomez-Garrido J, González J, Grilo ML, Grüning B, Guerin T, Guiglielmoni N, Gut M, Haesler MP, Hahn C, Halpern B, Harrison PW, Heintz J, Hindrikson M, Höglund J, Howe K, Hughes GM, Istace B, Cock MJ, Janžekovič F, Jonsson ZO, Joye-Dind S, Koskimäki JJ, Krystufek B, Kubacka J, Kuhl … See abstract for full author list ➔ Mc Cartney AM, et al. Among authors: buena atienza e. NPJ Biodivers. 2024 Oct 15;3(1):31. doi: 10.1038/s44185-024-00065-3. NPJ Biodivers. 2024. PMID: 39407030 Free PMC article. No abstract available.
The European Reference Genome Atlas: piloting a decentralised approach to equitable biodiversity genomics.
Mc Cartney AM, Formenti G, Mouton A, De Panis D, Marins LS, Leitão HG, Diedericks G, Kirangwa J, Morselli M, Salces-Ortiz J, Escudero N, Iannucci A, Natali C, Svardal H, Fernández R, De Pooter T, Joris G, Strazisar M, Wood JMD, Herron KE, Seehausen O, Watts PC, Shaw F, Davey RP, Minotto A, Fernández JM, Böhne A, Alegria C, Alioto T, Alves PC, Amorim IR, Aury JM, Backstrom N, Baldrian P, Baltrunaite L, Barta E, BedHom B, Belser C, Bergsten J, Bertrand L, Bilandija H, Binzer-Panchal M, Bista I, Blaxter M, Borges PAV, Dias GB, Bosse M, Brown T, Bruggmann R, Buena-Atienza E, Burgin J, Buzan E, Cariani A, Casadei N, Chiara M, Chozas S, Čiampor F Jr, Crottini A, Cruaud C, Cruz F, Dalen L, De Biase A, Del Campo J, Delic T, Dennis AB, Derks MFL, Diroma MA, Djan M, Duprat S, Eleftheriadi K, Feulner PGD, Flot JF, Forni G, Fosso B, Fournier P, Fournier-Chambrillon C, Gabaldon T, Garg S, Gissi C, Giupponi L, Gomez-Garrido J, González J, Grilo ML, Grüning B, Guerin T, Guiglielmoni N, Gut M, Haesler MP, Hahn C, Halpern B, Harrison PW, Heintz J, Hindrikson M, Höglund J, Howe K, Hughes GM, Istace B, Cock MJ, Janžekovič F, Jonsson ZO, Joye-Dind S, Koskimäki JJ, Krystufek B, Kubacka J, Kuhl … See abstract for full author list ➔ Mc Cartney AM, et al. Among authors: buena atienza e. NPJ Biodivers. 2024 Sep 17;3(1):28. doi: 10.1038/s44185-024-00054-6. NPJ Biodivers. 2024. PMID: 39289538 Free PMC article.
16 results