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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 Apr 29. doi: 10.1038/s41588-024-01719-5. Online ahead of print. Nat Genet. 2024. PMID: 38684900
Author Correction: Accurate long-read sequencing identified GBA1 as major risk factor in the Luxembourgish Parkinson's study.
Pachchek S, Landoulsi Z, Pavelka L, Schulte C, Buena-Atienza E, Gross C, Hauser AK, Reddy Bobbili D, Casadei N, May P, Krüger R; NCER-PD Consortium. Pachchek S, et al. Among authors: buena atienza e. NPJ Parkinsons Dis. 2023 Dec 18;9(1):168. doi: 10.1038/s41531-023-00613-x. NPJ Parkinsons Dis. 2023. PMID: 38110362 Free PMC article. No abstract available.
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.
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.
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. Among authors: buena atienza e. 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.
14 results