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Page 1
Variant-specific pathophysiological mechanisms of AFF3 differently influence transcriptome profiles.
Bassani S, Chrast J, Ambrosini G, Voisin N, Schütz F, Brusco A, Sirchia F, Turban L, Schubert S, Abou Jamra R, Schlump JU, DeMille D, Bayrak-Toydemir P, Nelson GR, Wong KN, Duncan L, Mosera M, Gilissen C, Vissers LELM, Pfundt R, Kersseboom R, Yttervik H, Hansen GÅM, Smeland MF, Butler KM, Lyons MJ, Carvalho CMB, Zhang C, Lupski JR, Potocki L, Flores-Gallegos L, Morales-Toquero R, Petit F, Yalcin B, Tuttle A, Elloumi HZ, McCormick L, Kukolich M, Klaas O, Horvath J, Scala M, Iacomino M, Operto F, Zara F, Writzl K, Maver A, Haanpää MK, Pohjola P, Arikka H, Kievit AJA, Calandrini C, Iseli C, Guex N, Reymond A. Bassani S, et al. Among authors: writzl k. Genome Med. 2024 May 30;16(1):72. doi: 10.1186/s13073-024-01339-y. Genome Med. 2024. PMID: 38811945 Free PMC article.
Red cell pyruvate kinase deficiency: 17 new mutations of the PK-LR gene.
Fermo E, Bianchi P, Chiarelli LR, Cotton F, Vercellati C, Writzl K, Baker K, Hann I, Rodwell R, Valentini G, Zanella A. Fermo E, et al. Among authors: writzl k. Br J Haematol. 2005 Jun;129(6):839-46. doi: 10.1111/j.1365-2141.2005.05520.x. Br J Haematol. 2005. PMID: 15953013 Free article.
An Organismal CNV Mutator Phenotype Restricted to Early Human Development.
Liu P, Yuan B, Carvalho CMB, Wuster A, Walter K, Zhang L, Gambin T, Chong Z, Campbell IM, Coban Akdemir Z, Gelowani V, Writzl K, Bacino CA, Lindsay SJ, Withers M, Gonzaga-Jauregui C, Wiszniewska J, Scull J, Stankiewicz P, Jhangiani SN, Muzny DM, Zhang F, Chen K, Gibbs RA, Rautenstrauss B, Cheung SW, Smith J, Breman A, Shaw CA, Patel A, Hurles ME, Lupski JR. Liu P, et al. Among authors: writzl k. Cell. 2017 Feb 23;168(5):830-842.e7. doi: 10.1016/j.cell.2017.01.037. Cell. 2017. PMID: 28235197 Free PMC article.
Improving diagnostics of rare genetic diseases with NGS approaches.
Vinkšel M, Writzl K, Maver A, Peterlin B. Vinkšel M, et al. Among authors: writzl k. J Community Genet. 2021 Apr;12(2):247-256. doi: 10.1007/s12687-020-00500-5. Epub 2021 Jan 15. J Community Genet. 2021. PMID: 33452619 Free PMC article.
51 results