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Model matchmaking via the Solve-RD Rare Disease Models & Mechanisms Network (RDMM-Europe).
Ellwanger K, Brill JA, de Boer E, Efthymiou S, Elgersma Y, Icmat M, Lecoquierre F, Lobato AG, Morleo M, Ori M, Schaffer AE, Vitobello A, Wells S, Yalcin B, Zhai RG, Sturm M, Zurek B, Graessner H, Bermejo-Sánchez E, Evangelista T, Hoogerbrugge N, Nigro V, Schüle R, Verloes A, Brunner H, Campeau PM, Lasko P, Riess O. Ellwanger K, et al. Among authors: sturm m. Lab Anim (NY). 2024 Jun 24. doi: 10.1038/s41684-024-01395-2. Online ahead of print. Lab Anim (NY). 2024. PMID: 38914824 No abstract available.
Limitations in next-generation sequencing-based genotyping of breast cancer polygenic risk score loci.
Baumann A, Ruckert C, Meier C, Hutschenreiter T, Remy R, Schnur B, Döbel M, Fankep RCN, Skowronek D, Kutz O, Arnold N, Katzke AL, Forster M, Kobiela AL, Thiedig K, Zimmer A, Ritter J, Weber BHF, Honisch E, Hackmann K; Bioinformatics Working Group of the German Consortium for Hereditary Breast & Ovarian Cancer; Schmidt G, Sturm M, Ernst C. Baumann A, et al. Among authors: sturm m. Eur J Hum Genet. 2024 Jun 21. doi: 10.1038/s41431-024-01647-2. Online ahead of print. Eur J Hum Genet. 2024. PMID: 38907004
Multiomic ALS signatures highlight subclusters and sex differences suggesting the MAPK pathway as therapeutic target.
Caldi Gomes L, Hänzelmann S, Hausmann F, Khatri R, Oller S, Parvaz M, Tzeplaeff L, Pasetto L, Gebelin M, Ebbing M, Holzapfel C, Columbro SF, Scozzari S, Knöferle J, Cordts I, Demleitner AF, Deschauer M, Dufke C, Sturm M, Zhou Q, Zelina P, Sudria-Lopez E, Haack TB, Streb S, Kuzma-Kozakiewicz M, Edbauer D, Pasterkamp RJ, Laczko E, Rehrauer H, Schlapbach R, Carapito C, Bonetto V, Bonn S, Lingor P. Caldi Gomes L, et al. Among authors: sturm m. Nat Commun. 2024 Jun 7;15(1):4893. doi: 10.1038/s41467-024-49196-y. Nat Commun. 2024. PMID: 38849340 Free PMC article.
Quality assurance within the context of genome diagnostics (a german perspective).
Florian K, Benet-Pagès A, Berner D, Teubert A, Eck S, Arnold N, Bauer P, Begemann M, Sturm M, Kleinle S, B Haack T, Eggermann T. Florian K, et al. Among authors: sturm m. Med Genet. 2023 Jun 13;35(2):91-104. doi: 10.1515/medgen-2023-2028. eCollection 2023 Jun. Med Genet. 2023. PMID: 38840862 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: sturm m. Nat Genet. 2024 Jun;56(6):1080-1089. doi: 10.1038/s41588-024-01719-5. Epub 2024 Apr 29. Nat Genet. 2024. PMID: 38684900
318 results