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Diagnostic criteria for constitutional mismatch repair deficiency (CMMRD): recommendations from the international consensus working group.
Aronson M, Colas C, Shuen A, Hampel H, Foulkes WD, Baris Feldman H, Goldberg Y, Muleris M, Wolfe Schneider K, McGee RB, Jasperson K, Rangaswami A, Brugieres L, Tabori U. Aronson M, et al. Among authors: jasperson k. J Med Genet. 2022 Apr;59(4):318-327. doi: 10.1136/jmedgenet-2020-107627. Epub 2021 Feb 23. J Med Genet. 2022. PMID: 33622763
An alternative approach to establishing unbiased colorectal cancer risk estimation in Lynch syndrome.
Suerink M, Rodríguez-Girondo M, van der Klift HM, Colas C, Brugieres L, Lavoine N, Jongmans M, Munar GC, Evans DG, Farrell MP, Genuardi M, Goldberg Y, Gomez-Garcia E, Heinimann K, Hoell JI, Aretz S, Jasperson KW, Kedar I, Modi MB, Nikolaev S, van Os TAM, Ripperger T, Rueda D, Senter L, Sjursen W, Sunde L, Therkildsen C, Tibiletti MG, Trainer AH, Vos YJ, Wagner A, Winship I, Wimmer K, Zimmermann SY, Vasen HF, van Asperen CJ, Houwing-Duistermaat JJ, Ten Broeke SW, Nielsen M. Suerink M, et al. Among authors: jasperson kw. Genet Med. 2019 Dec;21(12):2706-2712. doi: 10.1038/s41436-019-0577-z. Epub 2019 Jun 17. Genet Med. 2019. PMID: 31204389 Free article.
Risk assessment and genetic counseling for Lynch syndrome - Practice resource of the National Society of Genetic Counselors and the Collaborative Group of the Americas on Inherited Gastrointestinal Cancer.
Holter S, Hall MJ, Hampel H, Jasperson K, Kupfer SS, Larsen Haidle J, Mork ME, Palaniapppan S, Senter L, Stoffel EM, Weissman SM, Yurgelun MB. Holter S, et al. Among authors: jasperson k. J Genet Couns. 2022 Jun;31(3):568-583. doi: 10.1002/jgc4.1546. Epub 2022 Jan 9. J Genet Couns. 2022. PMID: 35001450 Review.
Implementing screening for Lynch syndrome among patients with newly diagnosed colorectal cancer: summary of a public health/clinical collaborative meeting.
Bellcross CA, Bedrosian SR, Daniels E, Duquette D, Hampel H, Jasperson K, Joseph DA, Kaye C, Lubin I, Meyer LJ, Reyes M, Scheuner MT, Schully SD, Senter L, Stewart SL, St Pierre J, Westman J, Wise P, Yang VW, Khoury MJ. Bellcross CA, et al. Among authors: jasperson k. Genet Med. 2012 Jan;14(1):152-62. doi: 10.1038/gim.0b013e31823375ea. Epub 2011 Oct 27. Genet Med. 2012. PMID: 22237445 Free PMC article.
Identification of individuals at risk for Lynch syndrome using targeted evaluations and genetic testing: National Society of Genetic Counselors and the Collaborative Group of the Americas on Inherited Colorectal Cancer joint practice guideline.
Weissman SM, Burt R, Church J, Erdman S, Hampel H, Holter S, Jasperson K, Kalady MF, Haidle JL, Lynch HT, Palaniappan S, Wise PE, Senter L. Weissman SM, et al. Among authors: jasperson k. J Genet Couns. 2012 Aug;21(4):484-93. doi: 10.1007/s10897-011-9465-7. Epub 2011 Dec 14. J Genet Couns. 2012. PMID: 22167527
Somatic TP53 variants frequently confound germ-line testing results.
Weitzel JN, Chao EC, Nehoray B, Van Tongeren LR, LaDuca H, Blazer KR, Slavin T, Facmg DABMD, Pesaran T, Rybak C, Solomon I, Niell-Swiller M, Dolinsky JS, Castillo D, Elliott A, Gau CL, Speare V, Jasperson K. Weitzel JN, et al. Among authors: jasperson k. Genet Med. 2018 Aug;20(8):809-816. doi: 10.1038/gim.2017.196. Epub 2017 Nov 30. Genet Med. 2018. PMID: 29189820 Free PMC article.
48 results