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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: gross c. Int J Mol Sci. 2023 Sep 28;24(19):14716. doi: 10.3390/ijms241914716. Int J Mol Sci. 2023. PMID: 37834164 Free PMC article.
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: gross c. 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.
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: gross c. Nat Genet. 2024 Apr 29. doi: 10.1038/s41588-024-01719-5. Online ahead of print. Nat Genet. 2024. PMID: 38684900
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: gross c. 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.
Whole genome analysis of two sympatric human Mansonella: Mansonella perstans and Mansonella sp "DEUX".
Rodi M, Gross C, Sandri TL, Berner L, Marcet-Houben M, Kocak E, Pogoda M, Casadei N, Köhler C, Kreidenweiss A, Agnandji ST, Gabaldón T, Ossowski S, Held J. Rodi M, et al. Among authors: gross c. Front Cell Infect Microbiol. 2023 Apr 14;13:1159814. doi: 10.3389/fcimb.2023.1159814. eCollection 2023. Front Cell Infect Microbiol. 2023. PMID: 37124042 Free PMC article.
Identification of Drug Resistance Determinants in a Clinical Isolate of Pseudomonas aeruginosa by High-Density Transposon Mutagenesis.
Sonnabend MS, Klein K, Beier S, Angelov A, Kluj R, Mayer C, Groß C, Hofmeister K, Beuttner A, Willmann M, Peter S, Oberhettinger P, Schmidt A, Autenrieth IB, Schütz M, Bohn E. Sonnabend MS, et al. Among authors: gross c. Antimicrob Agents Chemother. 2020 Feb 21;64(3):e01771-19. doi: 10.1128/AAC.01771-19. Print 2020 Feb 21. Antimicrob Agents Chemother. 2020. PMID: 31818817 Free PMC article.
2,515 results