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ACMG SF v3.2 list for reporting of secondary findings in clinical exome and genome sequencing: A policy statement of the American College of Medical Genetics and Genomics (ACMG).
Miller DT, Lee K, Abul-Husn NS, Amendola LM, Brothers K, Chung WK, Gollob MH, Gordon AS, Harrison SM, Hershberger RE, Klein TE, Richards CS, Stewart DR, Martin CL; ACMG Secondary Findings Working Group. Electronic address: documents@acmg.net. Miller DT, et al. Among authors: klein te. Genet Med. 2023 Aug;25(8):100866. doi: 10.1016/j.gim.2023.100866. Epub 2023 Jun 22. Genet Med. 2023. PMID: 37347242
Generating Clinical-Grade Gene-Disease Validity Classifications Through the ClinGen Data Platforms.
Wright MW, Thaxton CL, Nelson T, DiStefano MT, Savatt JM, Brush MH, Cheung G, Mandell ME, Wulf B, Ward TJ, Goehringer S, O'Neill T, Weller P, Preston CG, Keseler IM, Goldstein JL, Strande NT, McGlaughon J, Azzariti DR, Cordova I, Dziadzio H, Babb L, Riehle K, Milosavljevic A, Martin CL, Rehm HL, Plon SE, Berg JS, Riggs ER, Klein TE. Wright MW, et al. Among authors: klein te. Annu Rev Biomed Data Sci. 2024 Apr 25. doi: 10.1146/annurev-biodatasci-102423-112456. Online ahead of print. Annu Rev Biomed Data Sci. 2024. PMID: 38663031 Review.
Investigation of genomic and transcriptomic risk factors in clopidogrel response in African Americans.
Yang G, Alarcon C, Chanfreau C, Lee NH, Friedman P, Nutescu E, Tuck M, O'Brien T, Gong L, Klein TE, Chang KM, Tsao PS, Meltzer DO; Million Veteran Program; Tuteja S, Perera MA. Yang G, et al. Among authors: klein te. medRxiv [Preprint]. 2023 Dec 7:2023.12.05.23299140. doi: 10.1101/2023.12.05.23299140. medRxiv. 2023. PMID: 38106031 Free PMC article. Preprint.
PharmGKB summary: disulfiram pathway.
Gonzalez-Suarez AD, Thorn CF, Whirl-Carrillo M, Klein TE. Gonzalez-Suarez AD, et al. Among authors: klein te. Pharmacogenet Genomics. 2023 Dec 1;33(9):207-216. doi: 10.1097/FPC.0000000000000509. Epub 2023 Sep 20. Pharmacogenet Genomics. 2023. PMID: 37728645 No abstract available.
PharmVar Tutorial on CYP2D6 Structural Variation Testing and Recommendations on Reporting.
Turner AJ, Nofziger C, Ramey BE, Ly RC, Bousman CA, Agúndez JAG, Sangkuhl K, Whirl-Carrillo M, Vanoni S, Dunnenberger HM, Ruaño G, Kennedy MA, Phillips MS, Hachad H, Klein TE, Moyer AM, Gaedigk A. Turner AJ, et al. Among authors: klein te. Clin Pharmacol Ther. 2023 Dec;114(6):1220-1237. doi: 10.1002/cpt.3044. Epub 2023 Sep 28. Clin Pharmacol Ther. 2023. PMID: 37669183 Review.
300 results