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Page 1
Updated Structure of CNBP Repeat Expansions in Patients With Myotonic Dystrophy Type 2 and Its Implication for Standard Diagnostics.
Wendlandt M, Erdmann H, Rost S, Lucas MC, Becker K, Kleinle S, Timmer M, Bier A, Wunderlich G, Wenninger S, Walter MC, Neuhann T, Schoser B, Holinski-Feder E, Abicht A. Wendlandt M, et al. Neurol Genet. 2024 Dec 18;11(1):e200220. doi: 10.1212/NXG.0000000000200220. eCollection 2025 Feb. Neurol Genet. 2024. PMID: 39703464 Free PMC article.
Parallel in-depth analysis of repeat expansions in ataxia patients by long-read sequencing.
Erdmann H, Schöberl F, Giurgiu M, Leal Silva RM, Scholz V, Scharf F, Wendlandt M, Kleinle S, Deschauer M, Nübling G, Heide W, Babacan SS, Schneider C, Neuhann T, Hahn K, Schoser B, Holinski-Feder E, Wolf DA, Abicht A. Erdmann H, et al. Among authors: wendlandt m. Brain. 2023 May 2;146(5):1831-1843. doi: 10.1093/brain/awac377. Brain. 2023. PMID: 36227727
Optical Genome Mapping as a Potential Routine Clinical Diagnostic Method.
Barseghyan H, Eisenreich D, Lindt E, Wendlandt M, Scharf F, Benet-Pages A, Sendelbach K, Neuhann T, Abicht A, Holinski-Feder E, Koehler U. Barseghyan H, et al. Among authors: wendlandt m. Genes (Basel). 2024 Mar 7;15(3):342. doi: 10.3390/genes15030342. Genes (Basel). 2024. PMID: 38540401 Free PMC article.
PSMD11 loss-of-function variants correlate with a neurobehavioral phenotype, obesity, and increased interferon response.
Deb W, Rosenfelt C, Vignard V, Papendorf JJ, Möller S, Wendlandt M, Studencka-Turski M, Cogné B, Besnard T, Ruffier L, Toutain B, Poirier L, Cuinat S, Kritzer A, Crunk A, diMonda J, Vengoechea J, Mercier S, Kleinendorst L, van Haelst MM, Zuurbier L, Sulem T, Katrínardóttir H, Friðriksdóttir R, Sulem P, Stefansson K, Jonsdottir B, Zeidler S, Sinnema M, Stegmann APA, Naveh N, Skraban CM, Gray C, Murrell JR, Isikay S, Pehlivan D, Calame DG, Posey JE, Nizon M, McWalter K, Lupski JR, Isidor B, Bolduc FV, Bézieau S, Krüger E, Küry S, Ebstein F. Deb W, et al. Among authors: wendlandt m. Am J Hum Genet. 2024 Jul 11;111(7):1352-1369. doi: 10.1016/j.ajhg.2024.05.016. Epub 2024 Jun 11. Am J Hum Genet. 2024. PMID: 38866022
Biallelic USP14 variants cause a syndromic neurodevelopmental disorder.
Ebstein F, Latypova X, Sharon Hung KY, Prado MA, Lee BH, Möller S, Wendlandt M, Zieba BA, Florenceau L, Vignard V, Poirier L, Toutain B, Moroni I, Dubucs C, Chassaing N, Horvath J, Prokisch H, Küry S, Bézieau S, Paulo JA, Finley D, Krüger E, Ghezzi D, Isidor B. Ebstein F, et al. Among authors: wendlandt m. Genet Med. 2024 Jun;26(6):101120. doi: 10.1016/j.gim.2024.101120. Epub 2024 Mar 10. Genet Med. 2024. PMID: 38469793 Free PMC article.
[Risk factors for anastomotic leakage after colorectal surgery].
Stumpf M, Junge K, Wendlandt M, Krones C, Ulmer F, Klinge U, Schumpelick V. Stumpf M, et al. Among authors: wendlandt m. Zentralbl Chir. 2009 Jun;134(3):242-8. doi: 10.1055/s-0028-1098773. Epub 2009 Jun 17. Zentralbl Chir. 2009. PMID: 19536719 German.
11 results