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Page 1
Low adenoma burden in unselected patients with a pathogenic APC variant.
Schwiter R, Rocha H, Johns A, Savatt JM, Diehl DL, Kelly MA, Williams MS, Buchanan AH. Schwiter R, et al. Among authors: buchanan ah. Genet Med. 2023 Dec;25(12):100949. doi: 10.1016/j.gim.2023.100949. Epub 2023 Aug 2. Genet Med. 2023. PMID: 37542411 Free article.
Rare coding variants in CHRNB2 reduce the likelihood of smoking.
Rajagopal VM, Watanabe K, Mbatchou J, Ayer A, Quon P, Sharma D, Kessler MD, Praveen K, Gelfman S, Parikshak N, Otto JM, Bao S, Chim SM, Pavlopoulos E, Avbersek A, Kapoor M, Chen E, Jones MB, Leblanc M, Emberson J, Collins R, Torres J, Morales PK, Tapia-Conyer R, Alegre J, Berumen J; GHS-REGN DiscovEHR collaboration; Regeneron Genetics Center; Shuldiner AR, Balasubramanian S, Abecasis GR, Kang HM, Marchini J, Stahl EA, Jorgenson E, Sanchez R, Liedtke W, Anderson M, Cantor M, Lederer D, Baras A, Coppola G. Rajagopal VM, et al. Nat Genet. 2023 Jul;55(7):1138-1148. doi: 10.1038/s41588-023-01417-8. Epub 2023 Jun 12. Nat Genet. 2023. PMID: 37308787 Free PMC article.
Genetic sex validation for sample tracking in next-generation sequencing clinical testing.
Hu J, Korchina V, Zouk H, Harden MV, Murdock D, Macbeth A, Harrison SM, Lennon N, Kovar C, Balasubramanian A, Zhang L, Chandanavelli G, Pasham D, Rowley R, Wiley K, Smith ME, Gordon A, Jarvik GP, Sleiman P, Kelly MA, Bland HT, Murugan M, Venner E, Boerwinkle E; eMERGE III consortium; Prows C, Mahanta L, Rehm HL, Gibbs RA, Muzny DM. Hu J, et al. BMC Res Notes. 2024 Mar 3;17(1):62. doi: 10.1186/s13104-024-06723-w. BMC Res Notes. 2024. PMID: 38433186 Free PMC article.
Implementing evidence-based assertions of clinical actionability in the context of secondary findings: Updates from the ClinGen Actionability Working Group.
Pak CM, Gilmore MJ, Bulkley JE, Chakraborty P, Dagan-Rosenfeld O, Foreman AKM, Gollob MH, Jenkins CL, Katz AE, Lee K, Meeks N, O'Daniel JM, Posey JE, Rego SM, Shah N, Steiner RD, Stergachis AB, Subramanian SL, Trotter T, Wallace K, Williams MS, Goddard KAB, Buchanan AH, Manickam K, Powell B, Ezzell Hunter J; ClinGen Resource. Pak CM, et al. Among authors: buchanan ah. Genet Med. 2024 Aug;26(8):101164. doi: 10.1016/j.gim.2024.101164. Epub 2024 May 14. Genet Med. 2024. PMID: 38757444 Free article.
Measuring perceived utility of genomic sequencing: Development and validation of the GENEtic Utility (GENE-U) scale for adult screening.
Smith HS, Rubanovich CK, Robinson JO, Levchenko AN, Classen SA, Malek J, Buchanan AH, Biesecker B, Brothers KB, Wilfond BS, Rini C, Bloss CS, McGuire AL, Knight SJ. Smith HS, et al. Among authors: buchanan ah. Genet Med. 2024 Nov;26(11):101240. doi: 10.1016/j.gim.2024.101240. Epub 2024 Aug 10. Genet Med. 2024. PMID: 39140259
81 results