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Page 1
CADA: phenotype-driven gene prioritization based on a case-enriched knowledge graph.
Peng C, Dieck S, Schmid A, Ahmad A, Knaus A, Wenzel M, Mehnert L, Zirn B, Haack T, Ossowski S, Wagner M, Brunet T, Ehmke N, Danyel M, Rosnev S, Kamphans T, Nadav G, Fleischer N, Fröhlich H, Krawitz P. Peng C, et al. Among authors: wenzel m. NAR Genom Bioinform. 2021 Sep 3;3(3):lqab078. doi: 10.1093/nargab/lqab078. eCollection 2021 Sep. NAR Genom Bioinform. 2021. PMID: 34514393 Free PMC article.
De novo stop-loss variants in CLDN11 cause hypomyelinating leukodystrophy.
Riedhammer KM, Stockler S, Ploski R, Wenzel M, Adis-Dutschmann B, Ahting U, Alhaddad B, Blaschek A, Haack TB, Kopajtich R, Lee J, Murcia Pienkowski V, Pollak A, Szymanska K, Tarailo-Graovac M, van der Lee R, van Karnebeek CD, Meitinger T, Krägeloh-Mann I, Vill K. Riedhammer KM, et al. Among authors: wenzel m. Brain. 2021 Mar 3;144(2):411-419. doi: 10.1093/brain/awaa410. Brain. 2021. PMID: 33313762 Free PMC article.
UBR7 functions with UBR5 in the Notch signaling pathway and is involved in a neurodevelopmental syndrome with epilepsy, ptosis, and hypothyroidism.
Li C, Beauregard-Lacroix E, Kondratev C, Rousseau J, Heo AJ, Neas K, Graham BH, Rosenfeld JA, Bacino CA, Wagner M, Wenzel M, Al Mutairi F, Al Deiab H, Gleeson JG, Stanley V, Zaki MS, Kwon YT, Leroux MR, Campeau PM. Li C, et al. Among authors: wenzel m. Am J Hum Genet. 2021 Jan 7;108(1):134-147. doi: 10.1016/j.ajhg.2020.11.018. Epub 2020 Dec 18. Am J Hum Genet. 2021. PMID: 33340455 Free PMC article.
Mutations in the BAF-Complex Subunit DPF2 Are Associated with Coffin-Siris Syndrome.
Vasileiou G, Vergarajauregui S, Endele S, Popp B, Büttner C, Ekici AB, Gerard M, Bramswig NC, Albrecht B, Clayton-Smith J, Morton J, Tomkins S, Low K, Weber A, Wenzel M, Altmüller J, Li Y, Wollnik B, Hoganson G, Plona MR, Cho MT; Deciphering Developmental Disorders Study; Thiel CT, Lüdecke HJ, Strom TM, Calpena E, Wilkie AOM, Wieczorek D, Engel FB, Reis A. Vasileiou G, et al. Among authors: wenzel m. Am J Hum Genet. 2018 Mar 1;102(3):468-479. doi: 10.1016/j.ajhg.2018.01.014. Epub 2018 Feb 8. Am J Hum Genet. 2018. PMID: 29429572 Free PMC article.
New insights into the imprinted MEG8-DMR in 14q32 and clinical and molecular description of novel patients with Temple syndrome.
Beygo J, Küchler A, Gillessen-Kaesbach G, Albrecht B, Eckle J, Eggermann T, Gellhaus A, Kanber D, Kordaß U, Lüdecke HJ, Purmann S, Rossier E, van de Nes J, van der Werf IM, Wenzel M, Wieczorek D, Horsthemke B, Buiting K. Beygo J, et al. Among authors: wenzel m. Eur J Hum Genet. 2017 Aug;25(8):935-945. doi: 10.1038/ejhg.2017.91. Epub 2017 Jun 21. Eur J Hum Genet. 2017. PMID: 28635951 Free PMC article.
NR4A2 and Dystonia with Dopa Responsiveness.
Winter B, Krämer J, Meinhardt T, Berner D, Alt K, Wenzel M, Winkelmann J, Zech M. Winter B, et al. Among authors: wenzel m. Mov Disord. 2021 Sep;36(9):2203-2204. doi: 10.1002/mds.28701. Epub 2021 Jun 21. Mov Disord. 2021. PMID: 34155693 No abstract available.
[8.5 mm cannulas on IVODI prefilled syringes].
Wenzel M, Bisorca-Gassendorf L, Januschowski K. Wenzel M, et al. Ophthalmologie. 2025 Jan 15. doi: 10.1007/s00347-024-02163-w. Online ahead of print. Ophthalmologie. 2025. PMID: 39812668 German. No abstract available.
Patient-side performance metrics in robotic surgery: international Delphi-based consensus from the Junior European Association of Urology Robotic Section/Young Academic Urologists.
Würnschimmel C, Paciotti M, Wenzel M, Bravi CA, De Groote R, Dell'Oglio P, Di Maida F, Moschovas MC, Piramide F, Turri F, Andras I, Sorce G, Liakos N, Gallagher A, Veneziano D, Brouwers T, Liatsikos E, Breda A, Larcher A. Würnschimmel C, et al. Among authors: wenzel m. BJU Int. 2025 Jan 14. doi: 10.1111/bju.16638. Online ahead of print. BJU Int. 2025. PMID: 39807761 No abstract available.
786 results