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Page 1
Exome Sequencing and Optical Genome Mapping in Molecularly Unsolved Cases of Duchenne Muscular Dystrophy: Identification of a Causative X-Chromosomal Inversion Disrupting the DMD Gene.
Erbe LS, Hoffjan S, Janßen S, Kneifel M, Krause K, Gerding WM, Döring K, Güttsches AK, Roos A, Buena Atienza E, Gross C, Lücke T, Nguyen HHP, Vorgerd M, Köhler C. Erbe LS, et al. Among authors: buena atienza e. Int J Mol Sci. 2023 Sep 28;24(19):14716. doi: 10.3390/ijms241914716. Int J Mol Sci. 2023. PMID: 37834164 Free PMC article.
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.
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.
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.
A GGC-repeat expansion in ZFHX3 encoding polyglycine causes spinocerebellar ataxia type 4 and impairs autophagy.
Figueroa KP, Gross C, Buena-Atienza E, Paul S, Gandelman M, Kakar N, Sturm M, Casadei N, Admard J, Park J, Zühlke C, Hellenbroich Y, Pozojevic J, Balachandran S, Händler K, Zittel S, Timmann D, Erdlenbruch F, Herrmann L, Feindt T, Zenker M, Klopstock T, Dufke C, Scoles DR, Koeppen A, Spielmann M, Riess O, Ossowski S, Haack TB, Pulst SM. Figueroa KP, et al. Among authors: buena atienza e. Nat Genet. 2024 Jun;56(6):1080-1089. doi: 10.1038/s41588-024-01719-5. Epub 2024 Apr 29. Nat Genet. 2024. PMID: 38684900
16 results