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Year Number of Results
2020 11
2021 22
2022 12
2023 13
2024 3

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Page 1
PharmVar GeneFocus: CYP4F2.
Zubiaur P, Rodríguez-Antona C, Boone EC, Daly AK, Tsermpini EE, Khasawneh LQ, Sangkuhl K, Duconge J, Botton MR, Savieo J, Nofziger C, Whirl-Carrillo M, Klein TE, Gaedigk A. Zubiaur P, et al. Clin Pharmacol Ther. 2024 Aug 13. doi: 10.1002/cpt.3405. Online ahead of print. Clin Pharmacol Ther. 2024. PMID: 39135485 Review.
PharmVar GeneFocus: CYP2A6.
Langlois AWR, Chenoweth MJ, Twesigomwe D, Scantamburlo G, Whirl-Carrillo M, Sangkuhl K, Klein TE, Nofziger C, Tyndale RF, Gaedigk A. Langlois AWR, et al. Clin Pharmacol Ther. 2024 Jul 25. doi: 10.1002/cpt.3387. Online ahead of print. Clin Pharmacol Ther. 2024. PMID: 39051767 Review.
PharmGKB summary: disulfiram pathway.
Gonzalez-Suarez AD, Thorn CF, Whirl-Carrillo M, Klein TE. Gonzalez-Suarez AD, et al. 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. 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.
Promises and challenges in pharmacoepigenetics.
Smith DA, Sadler MC, Altman RB. Smith DA, et al. Camb Prism Precis Med. 2023 Feb 9;1:e18. doi: 10.1017/pcm.2023.6. eCollection 2023. Camb Prism Precis Med. 2023. PMID: 37560024 Free PMC article. Review.
CYP3A4 and CYP3A5 Genotyping Recommendations: A Joint Consensus Recommendation of the Association for Molecular Pathology, Clinical Pharmacogenetics Implementation Consortium, College of American Pathologists, Dutch Pharmacogenetics Working Group of the Royal Dutch Pharmacists Association, European Society for Pharmacogenomics and Personalized Therapy, and Pharmacogenomics Knowledgebase.
Pratt VM, Cavallari LH, Fulmer ML, Gaedigk A, Hachad H, Ji Y, Kalman LV, Ly RC, Moyer AM, Scott SA, van Schaik RHN, Whirl-Carrillo M, Weck KE. Pratt VM, et al. J Mol Diagn. 2023 Sep;25(9):619-629. doi: 10.1016/j.jmoldx.2023.06.008. Epub 2023 Jul 6. J Mol Diagn. 2023. PMID: 37419245 Free PMC article. Review.
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. Genet Med. 2023 Aug;25(8):100866. doi: 10.1016/j.gim.2023.100866. Epub 2023 Jun 22. Genet Med. 2023. PMID: 37347242 Free PMC article.
An Introductory Tutorial on Cardiovascular Pharmacogenetics for Healthcare Providers.
Oni-Orisan A, Tuteja S, Hoffecker G, Smith DM, Castrichini M, Crews KR, Murphy WA, Nguyen NHK, Huang Y, Lteif C, Friede KA, Tantisira K, Aminkeng F, Voora D, Cavallari LH, Whirl-Carrillo M, Duarte JD, Luzum JA; Pharmacogenomics Global Research Network (PGRN) Publications Committee. Oni-Orisan A, et al. Clin Pharmacol Ther. 2023 Aug;114(2):275-287. doi: 10.1002/cpt.2957. Epub 2023 Jun 12. Clin Pharmacol Ther. 2023. PMID: 37303270 Free PMC article.
Clinical Pharmacogenetics Implementation Consortium (CPIC) Guideline for CYP2D6, CYP2C19, CYP2B6, SLC6A4, and HTR2A Genotypes and Serotonin Reuptake Inhibitor Antidepressants.
Bousman CA, Stevenson JM, Ramsey LB, Sangkuhl K, Hicks JK, Strawn JR, Singh AB, Ruaño G, Mueller DJ, Tsermpini EE, Brown JT, Bell GC, Leeder JS, Gaedigk A, Scott SA, Klein TE, Caudle KE, Bishop JR. Bousman CA, et al. Clin Pharmacol Ther. 2023 Jul;114(1):51-68. doi: 10.1002/cpt.2903. Epub 2023 May 30. Clin Pharmacol Ther. 2023. PMID: 37032427 Free PMC article.
How to Run the Pharmacogenomics Clinical Annotation Tool (PharmCAT).
Li B, Sangkuhl K, Keat K, Whaley RM, Woon M, Verma S, Dudek S, Tuteja S, Verma A, Whirl-Carrillo M, Ritchie MD, Klein TE. Li B, et al. Clin Pharmacol Ther. 2023 May;113(5):1036-1047. doi: 10.1002/cpt.2790. Epub 2022 Dec 23. Clin Pharmacol Ther. 2023. PMID: 36350094 Free PMC article.
TPMT and NUDT15 Genotyping Recommendations: A Joint Consensus Recommendation of the Association for Molecular Pathology, Clinical Pharmacogenetics Implementation Consortium, College of American Pathologists, Dutch Pharmacogenetics Working Group of the Royal Dutch Pharmacists Association, European Society for Pharmacogenomics and Personalized Therapy, and Pharmacogenomics Knowledgebase.
Pratt VM, Cavallari LH, Fulmer ML, Gaedigk A, Hachad H, Ji Y, Kalman LV, Ly RC, Moyer AM, Scott SA, van Schaik RHN, Whirl-Carrillo M, Weck KE. Pratt VM, et al. J Mol Diagn. 2022 Oct;24(10):1051-1063. doi: 10.1016/j.jmoldx.2022.06.007. Epub 2022 Aug 2. J Mol Diagn. 2022. PMID: 35931343 Free PMC article. Review.
PharmVar GeneFocus: SLCO1B1.
Ramsey LB, Gong L, Lee SB, Wagner JB, Zhou X, Sangkuhl K, Adams SM, Straka RJ, Empey PE, Boone EC, Klein TE, Niemi M, Gaedigk A. Ramsey LB, et al. Clin Pharmacol Ther. 2023 Apr;113(4):782-793. doi: 10.1002/cpt.2705. Epub 2022 Jul 27. Clin Pharmacol Ther. 2023. PMID: 35797228 Free PMC article. Review.
PharmGKB summary: acyclovir/ganciclovir pathway.
Maillard M, Gong L, Nishii R, Yang JJ, Whirl-Carrillo M, Klein TE. Maillard M, et al. Pharmacogenet Genomics. 2022 Jul 1;32(5):201-208. doi: 10.1097/FPC.0000000000000474. Epub 2022 May 30. Pharmacogenet Genomics. 2022. PMID: 35665708 Free PMC article. No abstract available.
PharmVar GeneFocus: CYP3A5.
Rodriguez-Antona C, Savieo JL, Lauschke VM, Sangkuhl K, Drögemöller BI, Wang D, van Schaik RHN, Gilep AA, Peter AP, Boone EC, Ramey BE, Klein TE, Whirl-Carrillo M, Pratt VM, Gaedigk A. Rodriguez-Antona C, et al. Clin Pharmacol Ther. 2022 Dec;112(6):1159-1171. doi: 10.1002/cpt.2563. Epub 2022 Mar 29. Clin Pharmacol Ther. 2022. PMID: 35202484 Free PMC article. Review.
The Clinical Pharmacogenetics Implementation Consortium Guideline for SLCO1B1, ABCG2, and CYP2C9 genotypes and Statin-Associated Musculoskeletal Symptoms.
Cooper-DeHoff RM, Niemi M, Ramsey LB, Luzum JA, Tarkiainen EK, Straka RJ, Gong L, Tuteja S, Wilke RA, Wadelius M, Larson EA, Roden DM, Klein TE, Yee SW, Krauss RM, Turner RM, Palaniappan L, Gaedigk A, Giacomini KM, Caudle KE, Voora D. Cooper-DeHoff RM, et al. Clin Pharmacol Ther. 2022 May;111(5):1007-1021. doi: 10.1002/cpt.2557. Epub 2022 Mar 11. Clin Pharmacol Ther. 2022. PMID: 35152405 Free PMC article.
Clinical Pharmacogenetics Implementation Consortium Guideline for CYP2C19 Genotype and Clopidogrel Therapy: 2022 Update.
Lee CR, Luzum JA, Sangkuhl K, Gammal RS, Sabatine MS, Stein CM, Kisor DF, Limdi NA, Lee YM, Scott SA, Hulot JS, Roden DM, Gaedigk A, Caudle KE, Klein TE, Johnson JA, Shuldiner AR. Lee CR, et al. Clin Pharmacol Ther. 2022 Nov;112(5):959-967. doi: 10.1002/cpt.2526. Epub 2022 Feb 8. Clin Pharmacol Ther. 2022. PMID: 35034351 Free PMC article.
Genomewide Association Studies in Pharmacogenomics.
McInnes G, Yee SW, Pershad Y, Altman RB. McInnes G, et al. Clin Pharmacol Ther. 2021 Sep;110(3):637-648. doi: 10.1002/cpt.2349. Epub 2021 Jul 18. Clin Pharmacol Ther. 2021. PMID: 34185318 Free PMC article. Review.
Recommendations for Clinical CYP2D6 Genotyping Allele Selection: A Joint Consensus Recommendation of the Association for Molecular Pathology, College of American Pathologists, Dutch Pharmacogenetics Working Group of the Royal Dutch Pharmacists Association, and the European Society for Pharmacogenomics and Personalized Therapy.
Pratt VM, Cavallari LH, Del Tredici AL, Gaedigk A, Hachad H, Ji Y, Kalman LV, Ly RC, Moyer AM, Scott SA, van Schaik RHN, Whirl-Carrillo M, Weck KE. Pratt VM, et al. J Mol Diagn. 2021 Sep;23(9):1047-1064. doi: 10.1016/j.jmoldx.2021.05.013. Epub 2021 Jun 10. J Mol Diagn. 2021. PMID: 34118403 Free PMC article. Review.
PharmVar GeneFocus: CYP2C9.
Sangkuhl K, Claudio-Campos K, Cavallari LH, Agundez JAG, Whirl-Carrillo M, Duconge J, Del Tredici AL, Wadelius M, Rodrigues Botton M, Woodahl EL, Scott SA, Klein TE, Pratt VM, Daly AK, Gaedigk A. Sangkuhl K, et al. Clin Pharmacol Ther. 2021 Sep;110(3):662-676. doi: 10.1002/cpt.2333. Epub 2021 Jul 12. Clin Pharmacol Ther. 2021. PMID: 34109627 Free PMC article. Review.
Expanding evidence leads to new pharmacogenomics payer coverage.
Empey PE, Pratt VM, Hoffman JM, Caudle KE, Klein TE. Empey PE, et al. Genet Med. 2021 May;23(5):830-832. doi: 10.1038/s41436-021-01117-w. Epub 2021 Feb 24. Genet Med. 2021. PMID: 33627827 Free PMC article. No abstract available.
PharmVar GeneFocus: CYP2B6.
Desta Z, El-Boraie A, Gong L, Somogyi AA, Lauschke VM, Dandara C, Klein K, Miller NA, Klein TE, Tyndale RF, Whirl-Carrillo M, Gaedigk A. Desta Z, et al. Clin Pharmacol Ther. 2021 Jul;110(1):82-97. doi: 10.1002/cpt.2166. Epub 2021 Mar 11. Clin Pharmacol Ther. 2021. PMID: 33448339 Free PMC article. Review.
Clinical Pharmacogenetics Implementation Consortium Guideline for CYP2D6, OPRM1, and COMT Genotypes and Select Opioid Therapy.
Crews KR, Monte AA, Huddart R, Caudle KE, Kharasch ED, Gaedigk A, Dunnenberger HM, Leeder JS, Callaghan JT, Samer CF, Klein TE, Haidar CE, Van Driest SL, Ruano G, Sangkuhl K, Cavallari LH, Müller DJ, Prows CA, Nagy M, Somogyi AA, Skaar TC. Crews KR, et al. Clin Pharmacol Ther. 2021 Oct;110(4):888-896. doi: 10.1002/cpt.2149. Epub 2021 Feb 9. Clin Pharmacol Ther. 2021. PMID: 33387367 Free PMC article.
Verifying nomenclature of DNA variants in submitted manuscripts: Guidance for journals.
Higgins J, Dalgleish R, den Dunnen JT, Barsh G, Freeman PJ, Cooper DN, Cullinan S, Davies KE, Dorkins H, Gong L, Imoto I, Klein TE, Korf B, Misra A, Paalman MH, Ratzel S, Reichardt JKV, Rehm HL, Tokunaga K, Weck KE, Cutting GR. Higgins J, et al. Hum Mutat. 2021 Jan;42(1):3-7. doi: 10.1002/humu.24144. Epub 2020 Dec 10. Hum Mutat. 2021. PMID: 33252176 Free PMC article.
Pharmacogenetics at Scale: An Analysis of the UK Biobank.
McInnes G, Lavertu A, Sangkuhl K, Klein TE, Whirl-Carrillo M, Altman RB. McInnes G, et al. Clin Pharmacol Ther. 2021 Jun;109(6):1528-1537. doi: 10.1002/cpt.2122. Epub 2020 Dec 17. Clin Pharmacol Ther. 2021. PMID: 33237584 Free PMC article.
Variant Interpretation in Current Pharmacogenetic Testing.
Luvsantseren S, Whirl-Carrillo M, Sangkuhl K, Shin N, Wen A, Empey P, Alam B, David S, Dunnenberger HM, Orlando L, Altman R, Palaniappan L. Luvsantseren S, et al. J Pers Med. 2020 Oct 31;10(4):204. doi: 10.3390/jpm10040204. J Pers Med. 2020. PMID: 33142667 Free PMC article.
Transfer learning enables prediction of CYP2D6 haplotype function.
McInnes G, Dalton R, Sangkuhl K, Whirl-Carrillo M, Lee SB, Tsao PS, Gaedigk A, Altman RB, Woodahl EL. McInnes G, et al. PLoS Comput Biol. 2020 Nov 2;16(11):e1008399. doi: 10.1371/journal.pcbi.1008399. eCollection 2020 Nov. PLoS Comput Biol. 2020. PMID: 33137098 Free PMC article.
Gaussian Embedding for Large-scale Gene Set Analysis.
Wang S, Flynn ER, Altman RB. Wang S, et al. Nat Mach Intell. 2020 Jul;2(7):387-395. doi: 10.1038/s42256-020-0193-2. Epub 2020 Jun 15. Nat Mach Intell. 2020. PMID: 32968711 Free PMC article.
Effect of CYP3A4*22 and PPAR-α Genetic Variants on Platelet Reactivity in Patients Treated with Clopidogrel and Lipid-Lowering Drugs Undergoing Elective Percutaneous Coronary Intervention.
Bergmeijer TO, Yasmina A, Vos GJA, Janssen PWA, Hackeng CM, Kelder JC, Verma SS, Ritchie MD, Gong L, Klein TE, Icpc Investigators, de Boer A, Klungel OH, Ten Berg JM, Deneer VHM. Bergmeijer TO, et al. Genes (Basel). 2020 Sep 11;11(9):1068. doi: 10.3390/genes11091068. Genes (Basel). 2020. PMID: 32932966 Free PMC article.
Clinical Pharmacogenetics Implementation Consortium (CPIC) Guideline for CYP2C19 and Proton Pump Inhibitor Dosing.
Lima JJ, Thomas CD, Barbarino J, Desta Z, Van Driest SL, El Rouby N, Johnson JA, Cavallari LH, Shakhnovich V, Thacker DL, Scott SA, Schwab M, Uppugunduri CRS, Formea CM, Franciosi JP, Sangkuhl K, Gaedigk A, Klein TE, Gammal RS, Furuta T. Lima JJ, et al. Clin Pharmacol Ther. 2021 Jun;109(6):1417-1423. doi: 10.1002/cpt.2015. Epub 2020 Sep 20. Clin Pharmacol Ther. 2021. PMID: 32770672 Free PMC article.
PharmVar GeneFocus: CYP2C19.
Botton MR, Whirl-Carrillo M, Del Tredici AL, Sangkuhl K, Cavallari LH, Agúndez JAG, Duconge J, Lee MTM, Woodahl EL, Claudio-Campos K, Daly AK, Klein TE, Pratt VM, Scott SA, Gaedigk A. Botton MR, et al. Clin Pharmacol Ther. 2021 Feb;109(2):352-366. doi: 10.1002/cpt.1973. Epub 2020 Jul 22. Clin Pharmacol Ther. 2021. PMID: 32602114 Free PMC article. Review.
Genomewide Association Study of Platelet Reactivity and Cardiovascular Response in Patients Treated With Clopidogrel: A Study by the International Clopidogrel Pharmacogenomics Consortium.
Verma SS, Bergmeijer TO, Gong L, Reny JL, Lewis JP, Mitchell BD, Alexopoulos D, Aradi D, Altman RB, Bliden K, Bradford Y, Campo G, Chang K, Cleator JH, Déry JP, Dridi NP, Fernandez-Cadenas I, Fontana P, Gawaz M, Geisler T, Gensini GF, Giusti B, Gurbel PA, Hochholzer W, Holmvang L, Kim EY, Kim HS, Marcucci R, Montaner J, Backman JD, Pakyz RE, Roden DM, Schaeffeler E, Schwab M, Shin JG, Siller-Matula JM, Ten Berg JM, Trenk D, Valgimigli M, Wallace J, Wen MS, Kubo M, Lee MTM, Whaley R, Winter S, Klein TE, Shuldiner AR, Ritchie MD; ICPC Investigators. Verma SS, et al. Clin Pharmacol Ther. 2020 Nov;108(5):1067-1077. doi: 10.1002/cpt.1911. Epub 2020 Jul 9. Clin Pharmacol Ther. 2020. PMID: 32472697 Free PMC article.