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Multigene testing of moderate-risk genes: be mindful of the missense.
Young EL, Feng BJ, Stark AW, Damiola F, Durand G, Forey N, Francy TC, Gammon A, Kohlmann WK, Kaphingst KA, McKay-Chopin S, Nguyen-Dumont T, Oliver J, Paquette AM, Pertesi M, Robinot N, Rosenthal JS, Vallee M, Voegele C, Hopper JL, Southey MC, Andrulis IL, John EM, Hashibe M, Gertz J; Breast Cancer Family Registry; Le Calvez-Kelm F, Lesueur F, Goldgar DE, Tavtigian SV. Young EL, et al. Among authors: kaphingst ka. J Med Genet. 2016 Jun;53(6):366-76. doi: 10.1136/jmedgenet-2015-103398. Epub 2016 Jan 19. J Med Genet. 2016. PMID: 26787654 Free PMC article.
Linking genetic counseling communication skills to patient outcomes and experiences using a community-engagement and provider-engagement approach: research protocol for the GC-PRO mixed methods sequential explanatory study.
Fisher ER, Cragun D, Dedrick RF, Lumpkins CY, Ramírez M, Kaphingst KA, Petersen A, MacFarlane IM, Redlinger-Grosse K, Shire A, Culhane-Pera KA, Zierhut HA. Fisher ER, et al. Among authors: kaphingst ka. BMJ Open. 2024 Apr 17;14(4):e085472. doi: 10.1136/bmjopen-2024-085472. BMJ Open. 2024. PMID: 38631834 Free PMC article.
Enhanced family history-based algorithms increase the identification of individuals meeting criteria for genetic testing of hereditary cancer syndromes but would not reduce disparities on their own.
Bradshaw RL, Kawamoto K, Bather JR, Goodman MS, Kohlmann WK, Chavez-Yenter D, Volkmar M, Monahan R, Kaphingst KA, Del Fiol G. Bradshaw RL, et al. Among authors: kaphingst ka. J Biomed Inform. 2024 Jan;149:104568. doi: 10.1016/j.jbi.2023.104568. Epub 2023 Dec 9. J Biomed Inform. 2024. PMID: 38081564 Free PMC article.
158 results