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A functional assay-based procedure to classify mismatch repair gene variants in Lynch syndrome.
Drost M, Tiersma Y, Thompson BA, Frederiksen JH, Keijzers G, Glubb D, Kathe S, Osinga J, Westers H, Pappas L, Boucher KM, Molenkamp S, Zonneveld JB, van Asperen CJ, Goldgar DE, Wallace SS, Sijmons RH, Spurdle AB, Rasmussen LJ, Greenblatt MS, de Wind N, Tavtigian SV. Drost M, et al. Among authors: sijmons rh. Genet Med. 2019 Jul;21(7):1486-1496. doi: 10.1038/s41436-018-0372-2. Epub 2018 Dec 3. Genet Med. 2019. PMID: 30504929 Free PMC article.
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.
Calibration of multiple in silico tools for predicting pathogenicity of mismatch repair gene missense substitutions.
Thompson BA, Greenblatt MS, Vallee MP, Herkert JC, Tessereau C, Young EL, Adzhubey IA, Li B, Bell R, Feng B, Mooney SD, Radivojac P, Sunyaev SR, Frebourg T, Hofstra RM, Sijmons RH, Boucher K, Thomas A, Goldgar DE, Spurdle AB, Tavtigian SV. Thompson BA, et al. Among authors: sijmons rh. Hum Mutat. 2013 Jan;34(1):255-65. doi: 10.1002/humu.22214. Epub 2012 Oct 22. Hum Mutat. 2013. PMID: 22949387 Free PMC article.
MUTYH and the mismatch repair system: partners in crime?
Niessen RC, Sijmons RH, Ou J, Olthof SG, Osinga J, Ligtenberg MJ, Hogervorst FB, Weiss MM, Tops CM, Hes FJ, de Bock GH, Buys CH, Kleibeuker JH, Hofstra RM. Niessen RC, et al. Among authors: sijmons rh. Hum Genet. 2006 Mar;119(1-2):206-11. doi: 10.1007/s00439-005-0118-5. Epub 2006 Jan 12. Hum Genet. 2006. PMID: 16408224
PMS2 involvement in patients suspected of Lynch syndrome.
Niessen RC, Kleibeuker JH, Westers H, Jager PO, Rozeveld D, Bos KK, Boersma-van Ek W, Hollema H, Sijmons RH, Hofstra RM. Niessen RC, et al. Among authors: sijmons rh. Genes Chromosomes Cancer. 2009 Apr;48(4):322-9. doi: 10.1002/gcc.20642. Genes Chromosomes Cancer. 2009. PMID: 19132747
Evaluation of CADD Scores in Curated Mismatch Repair Gene Variants Yields a Model for Clinical Validation and Prioritization.
van der Velde KJ, Kuiper J, Thompson BA, Plazzer JP, van Valkenhoef G, de Haan M, Jongbloed JD, Wijmenga C, de Koning TJ, Abbott KM, Sinke R, Spurdle AB, Macrae F, Genuardi M, Sijmons RH, Swertz MA; InSiGHT Group. van der Velde KJ, et al. Among authors: sijmons rh. Hum Mutat. 2015 Jul;36(7):712-9. doi: 10.1002/humu.22798. Epub 2015 May 20. Hum Mutat. 2015. PMID: 25871441 Free PMC article.
191 results