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Assessment of Diagnostic Outcomes of RNA Genetic Testing for Hereditary Cancer.
Karam R, Conner B, LaDuca H, McGoldrick K, Krempely K, Richardson ME, Zimmermann H, Gutierrez S, Reineke P, Hoang L, Allen K, Yussuf A, Farber-Katz S, Rana HQ, Culver S, Lee J, Nashed S, Toppmeyer D, Collins D, Haynes G, Pesaran T, Dolinsky JS, Tippin Davis B, Elliott A, Chao E. Karam R, et al. JAMA Netw Open. 2019 Oct 2;2(10):e1913900. doi: 10.1001/jamanetworkopen.2019.13900. JAMA Netw Open. 2019. PMID: 31642931 Free PMC article.
Schimke XLID syndrome results from a deletion in BCAP31.
Louie RJ, Collins DL, Friez MJ, Skinner C, Schwartz CE, Stevenson RE. Louie RJ, et al. Among authors: collins dl. Am J Med Genet A. 2020 Sep;182(9):2168-2174. doi: 10.1002/ajmg.a.61755. Epub 2020 Jul 18. Am J Med Genet A. 2020. PMID: 32681719
Colorectal Neoplasia in CDH1 Pathogenic Variant Carriers: A Multicenter Analysis.
Stanich PP, Elgindi D, Stoffel E, Koeppe E, Bansal A, Stetson R, Collins DL, Clark DF, Karloski E, Dudley B, Brand RE, Hall MJ, Chertock Y, Sullivan BA, Muller C, Hinton A, Katona BW, Kupfer SS. Stanich PP, et al. Among authors: collins dl. Am J Gastroenterol. 2022 Nov 1;117(11):1877-1879. doi: 10.14309/ajg.0000000000001996. Epub 2022 Sep 6. Am J Gastroenterol. 2022. PMID: 36087100
466 results