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Page 1
Application of a 5-tiered scheme for standardized classification of 2,360 unique mismatch repair gene variants in the InSiGHT locus-specific database.
Thompson BA, Spurdle AB, Plazzer JP, Greenblatt MS, Akagi K, Al-Mulla F, Bapat B, Bernstein I, Capellá G, den Dunnen JT, du Sart D, Fabre A, Farrell MP, Farrington SM, Frayling IM, Frebourg T, Goldgar DE, Heinen CD, Holinski-Feder E, Kohonen-Corish M, Robinson KL, Leung SY, Martins A, Moller P, Morak M, Nystrom M, Peltomaki P, Pineda M, Qi M, Ramesar R, Rasmussen LJ, Royer-Pokora B, Scott RJ, Sijmons R, Tavtigian SV, Tops CM, Weber T, Wijnen J, Woods MO, Macrae F, Genuardi M. Thompson BA, et al. Nat Genet. 2014 Feb;46(2):107-115. doi: 10.1038/ng.2854. Epub 2013 Dec 22. Nat Genet. 2014. PMID: 24362816 Free PMC article.
Tumor-independent Detection of Inherited Mismatch Repair Deficiency for the Diagnosis of Lynch Syndrome with High Specificity and Sensitivity.
Kansikas M, Vähätalo L, Kantelinen J, Kasela M, Putula J, Døhlen A, Paloviita P, Kärkkäinen E, Lahti N, Arnez P, Kilpinen S, Alcala-Repo B, Pylvänäinen K, Pöyhönen M, Peltomäki P, Järvinen HJ, Seppälä TT, Renkonen-Sinisalo L, Lepistö A, Mecklin JP, Nyström M. Kansikas M, et al. Cancer Res Commun. 2023 Mar 2;3(3):361-370. doi: 10.1158/2767-9764.CRC-22-0384. eCollection 2023 Mar. Cancer Res Commun. 2023. PMID: 36875157 Free PMC article.
MutSbeta exceeds MutSalpha in dinucleotide loop repair.
Kantelinen J, Kansikas M, Korhonen MK, Ollila S, Heinimann K, Kariola R, Nyström M. Kantelinen J, et al. Among authors: kansikas m. Br J Cancer. 2010 Mar 16;102(6):1068-73. doi: 10.1038/sj.bjc.6605531. Epub 2010 Feb 16. Br J Cancer. 2010. PMID: 20160730 Free PMC article.
Agenesis of the corpus callosum and gray matter heterotopia in three patients with constitutional mismatch repair deficiency syndrome.
Baas AF, Gabbett M, Rimac M, Kansikas M, Raphael M, Nievelstein RA, Nicholls W, Offerhaus J, Bodmer D, Wernstedt A, Krabichler B, Strasser U, Nyström M, Zschocke J, Robertson SP, van Haelst MM, Wimmer K. Baas AF, et al. Among authors: kansikas m. Eur J Hum Genet. 2013 Jan;21(1):55-61. doi: 10.1038/ejhg.2012.117. Epub 2012 Jun 13. Eur J Hum Genet. 2013. PMID: 22692065 Free PMC article.