U24 HG010615/HG/NHGRI NIH HHS/United States[Grant Number] - Search Results

Year	Number of Results
2020	11
2021	22
2022	13
2023	14
2024	8
2025	6
2026	0

1

The Clinical Pharmacogenetics Implementation Consortium's consensus-based framework for assigning allele function.

Tibben BM, Gaedigk A, Gong L, Sangkuhl K, Whirl-Carrillo M, Relling MV, Donnelly RS, Klein TE, Caudle KE. Tibben BM, et al. Am J Hum Genet. 2025 Dec 4;112(12):2842-2859. doi: 10.1016/j.ajhg.2025.10.004. Epub 2025 Oct 31. Am J Hum Genet. 2025. PMID: 41175864 Free PMC article. Review.

2

Clinical Pharmacogenetics Implementation Consortium Guideline for NAT2 Genotype and Hydralazine Therapy.

Eadon MT, Hein DW, Andersen MA, Chapman AB, Cooper-DeHoff RM, Desta Z, Duarte JD, Elchynski AL, Gaedigk A, Karol SE, Limdi NA, Lteif C, Sosinski L, Zubiaur P, Whirl-Carrillo M, Klein TE, Caudle KE, Donnelly RS, Agúndez JAG. Eadon MT, et al. Clin Pharmacol Ther. 2025 Dec;118(6):1430-1436. doi: 10.1002/cpt.70071. Epub 2025 Sep 19. Clin Pharmacol Ther. 2025. PMID: 40974042 Free PMC article.

3

Toward an integrated resource for pharmacogenomics (PGx): Survey findings from the genomic medicine communities.

Klein CJ, Gong L, Caudle KE, Naik H, Empey PE, Hoffman JM, Scherer S, Iwuchukwu OF, Gregornik D, Monte AA, Swen JJ, Scott SA, Whirl-Carrillo M, Klein TE. Klein CJ, et al. Genet Med. 2025 Oct;27(10):101529. doi: 10.1016/j.gim.2025.101529. Epub 2025 Jul 12. Genet Med. 2025. PMID: 40662343

4

Leveraging large-scale biobank EHRs to enhance pharmacogenetics of cardiometabolic disease medications.

Sadler MC, Apostolov A, Cevallos C, Auwerx C, Ribeiro DM, Altman RB, Kutalik Z. Sadler MC, et al. Nat Commun. 2025 Mar 25;16(1):2913. doi: 10.1038/s41467-025-58152-3. Nat Commun. 2025. PMID: 40133288 Free PMC article.

5

Applications of genome sequencing as a single platform for clinical constitutional genetic testing.

Yang Y, Del Gaudio D, Santani A, Scott SA. Yang Y, et al. Genet Med Open. 2024 Mar 20;2:101840. doi: 10.1016/j.gimo.2024.101840. eCollection 2024. Genet Med Open. 2024. PMID: 39822265 Free PMC article. Review.

6

Integrating Pharmacogenomics into the Broader Construct of Genomic Medicine: Efforts by the ClinGen Pharmacogenomics Working Group (PGxWG).

Gong L, Klein CJ, Caudle KE, Moyer AM, Scott SA, Whirl-Carrillo M, Klein TE; ClinGen Pharmacogenomics Working Group (PGxWG). Gong L, et al. Clin Chem. 2025 Jan 3;71(1):36-44. doi: 10.1093/clinchem/hvae181. Clin Chem. 2025. PMID: 39749515 Free PMC article.

7

PGxQA: A Resource for Evaluating LLM Performance for Pharmacogenomic QA Tasks.

Keat K, Venkatesh R, Huang Y, Kumar R, Tuteja S, Sangkuhl K, Li B, Gong L, Whirl-Carrillo M, Klein TE, Ritchie MD, Kim D. Keat K, et al. Pac Symp Biocomput. 2025;30:229-246. doi: 10.1142/9789819807024_0017. Pac Symp Biocomput. 2025. PMID: 39670373 Free PMC article.

8

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 Oct;116(4):963-975. doi: 10.1002/cpt.3405. Epub 2024 Aug 13. Clin Pharmacol Ther. 2024. PMID: 39135485 Free PMC article. Review.

9

The Value of Clinical Pharmacogenomic Guidelines That Recommend Standard of Care Over Genotype-Based Prescribing.

Donnelly RS, Whirl-Carrillo M, Klein TE, Caudle KE. Donnelly RS, et al. Clin Pharmacol Ther. 2024 Oct;116(4):897-898. doi: 10.1002/cpt.3401. Epub 2024 Aug 8. Clin Pharmacol Ther. 2024. PMID: 39115927 Free PMC article. No abstract available.

10

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 Oct;116(4):948-962. doi: 10.1002/cpt.3387. Epub 2024 Jul 25. Clin Pharmacol Ther. 2024. PMID: 39051767 Free PMC article. Review.

11

Clinical Pharmacogenetics Implementation Consortium Guideline (CPIC) for CYP2D6, ADRB1, ADRB2, ADRA2C, GRK4, and GRK5 Genotypes and Beta-Blocker Therapy.

Duarte JD, Thomas CD, Lee CR, Huddart R, Agundez JAG, Baye JF, Gaedigk A, Klein TE, Lanfear DE, Monte AA, Nagy M, Schwab M, Stein CM, Uppugunduri CRS, van Schaik RHN, Donnelly RS, Caudle KE, Luzum JA. Duarte JD, et al. Clin Pharmacol Ther. 2024 Oct;116(4):939-947. doi: 10.1002/cpt.3351. Epub 2024 Jul 1. Clin Pharmacol Ther. 2024. PMID: 38951961 Free PMC article.

12

Leveraging large-scale biobank EHRs to enhance pharmacogenetics of cardiometabolic disease medications.

Sadler MC, Apostolov A, Cevallos C, Ribeiro DM, Altman RB, Kutalik Z. Sadler MC, et al. medRxiv [Preprint]. 2024 Apr 7:2024.04.06.24305415. doi: 10.1101/2024.04.06.24305415. medRxiv. 2024. Update in: Nat Commun. 2025 Mar 25;16(1):2913. doi: 10.1038/s41467-025-58152-3. PMID: 38633781 Free PMC article. Updated. Preprint.

13

Knowledge and attitudes on implementing cardiovascular pharmacogenomic testing.

Russell C, Campion M, Grove ME, Matsuda K, Klein TE, Ashley E, Naik H, Wheeler MT, Scott SA. Russell C, et al. Clin Transl Sci. 2024 Mar;17(3):e13737. doi: 10.1111/cts.13737. Clin Transl Sci. 2024. PMID: 38421234 Free PMC article.

14

CAGI, the Critical Assessment of Genome Interpretation, establishes progress and prospects for computational genetic variant interpretation methods.

Critical Assessment of Genome Interpretation Consortium. Critical Assessment of Genome Interpretation Consortium. Genome Biol. 2024 Feb 22;25(1):53. doi: 10.1186/s13059-023-03113-6. Genome Biol. 2024. PMID: 38389099 Free PMC article.

15

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. medRxiv [Preprint]. 2023 Dec 7:2023.12.05.23299140. doi: 10.1101/2023.12.05.23299140. medRxiv. 2023. Update in: Clin Pharmacol Ther. 2025 May;117(5):1313-1324. doi: 10.1002/cpt.3552. PMID: 38106031 Free PMC article. Updated. Preprint.

16

Pharmacogenomic knowledge and awareness among diverse patients treated with angiotensin converting enzyme inhibitors.

Naik H, O'Connor MY, Sanderson SC, Pinnell N, Dong M, Wiegand A, Obeng AO, Abul-Husn NS, Scott SA. Naik H, et al. Pharmacogenomics. 2023 Dec;24(18):921-930. doi: 10.2217/pgs-2023-0191. Epub 2023 Dec 6. Pharmacogenomics. 2023. PMID: 38054855 Free PMC article.

17

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 Free PMC article. No abstract available.

18

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 Free PMC article. Review.

19

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.

20

The Genetic Testing Reference Materials Coordination Program: Over 10 Years of Support for Pharmacogenomic Testing.

Scott SA. Scott SA. J Mol Diagn. 2023 Sep;25(9):630-633. doi: 10.1016/j.jmoldx.2023.07.001. Epub 2023 Jul 20. J Mol Diagn. 2023. PMID: 37481236 Free PMC article. No abstract available.

21

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.

22

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.

23

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.

24

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.

25

The Role of Global and Local Ancestry on Clopidogrel Response in African Americans.

Yang G, Alarcon C, Friedman P, Gong L, Klein T, O'Brien T, Nutescu EA, Tuck M, Meltzer D, Perera MA. Yang G, et al. Pac Symp Biocomput. 2023;28:221-232. Pac Symp Biocomput. 2023. PMID: 36540979 Free PMC article.

26

Evaluating the frequency and the impact of pharmacogenetic alleles in an ancestrally diverse Biobank population.

Verma SS, Keat K, Li B, Hoffecker G, Risman M; Regeneron Genetics Center; Sangkuhl K, Whirl-Carrillo M, Dudek S, Verma A, Klein TE, Ritchie MD, Tuteja S. Verma SS, et al. J Transl Med. 2022 Nov 28;20(1):550. doi: 10.1186/s12967-022-03745-5. J Transl Med. 2022. PMID: 36443877 Free PMC article.

27

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.

28

Expanded Clinical Pharmacogenetics Implementation Consortium Guideline for Medication Use in the Context of G6PD Genotype.

Gammal RS, Pirmohamed M, Somogyi AA, Morris SA, Formea CM, Elchynski AL, Oshikoya KA, McLeod HL, Haidar CE, Whirl-Carrillo M, Klein TE, Caudle KE, Relling MV. Gammal RS, et al. Clin Pharmacol Ther. 2023 May;113(5):973-985. doi: 10.1002/cpt.2735. Epub 2022 Sep 24. Clin Pharmacol Ther. 2023. PMID: 36049896 Free PMC article.

29

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.

30

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.

31

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.

32

Apixaban Concentrations in Routine Clinical Care of Older Adults With Nonvalvular Atrial Fibrillation.

Thomas A, Fang MC, Kogan S, Hubbard CC, Friedman PN, Gong L, Klein TE, Nutescu EA, O'Brien TJ, Tuck M, Perera MA, Schwartz JB. Thomas A, et al. JACC Adv. 2022 Jun;1(2):100039. doi: 10.1016/j.jacadv.2022.100039. Epub 2022 May 23. JACC Adv. 2022. PMID: 37961076 Free PMC article.

33

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.

34

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.

35

PharmGKB summary: heparin-induced thrombocytopenia pathway, adverse drug reaction.

Miller E, Norwood C, Giles JB, Huddart R, Karnes JH, Whirl-Carrillo M, Klein TE. Miller E, et al. Pharmacogenet Genomics. 2022 Apr 1;32(3):117-124. doi: 10.1097/FPC.0000000000000465. Pharmacogenet Genomics. 2022. PMID: 35102073 Free PMC article. No abstract available.

36

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.

37

An Investigation of the Knowledge Overlap between Pharmacogenomics and Disease Genetics.

Li B, Whirl-Carrillo M, Wright MW, Babb L, Rehm HL, Klein TE. Li B, et al. Pac Symp Biocomput. 2022;27:385-396. Pac Symp Biocomput. 2022. PMID: 34890165 Free PMC article.

38

Quantifying the Severity of Adverse Drug Reactions Using Social Media: Network Analysis.

Lavertu A, Hamamsy T, Altman RB. Lavertu A, et al. J Med Internet Res. 2021 Oct 21;23(10):e27714. doi: 10.2196/27714. J Med Internet Res. 2021. PMID: 34673524 Free PMC article.

39

PharmGKB, an Integrated Resource of Pharmacogenomic Knowledge.

Gong L, Whirl-Carrillo M, Klein TE. Gong L, et al. Curr Protoc. 2021 Aug;1(8):e226. doi: 10.1002/cpz1.226. Curr Protoc. 2021. PMID: 34387941 Free PMC article.

40

Advancing Precision Medicine Through the New Pharmacogenomics Global Research Network.

Giacomini KM, Karnes JH, Crews KR, Monte AA, Murphy WA, Oni-Orisan A, Ramsey LB, Yang JJ, Whirl-Carrillo M. Giacomini KM, et al. Clin Pharmacol Ther. 2021 Sep;110(3):559-562. doi: 10.1002/cpt.2340. Epub 2021 Jul 28. Clin Pharmacol Ther. 2021. PMID: 34318925 Free PMC article.

41

An Evidence-Based Framework for Evaluating Pharmacogenomics Knowledge for Personalized Medicine.

Whirl-Carrillo M, Huddart R, Gong L, Sangkuhl K, Thorn CF, Whaley R, Klein TE. Whirl-Carrillo M, et al. Clin Pharmacol Ther. 2021 Sep;110(3):563-572. doi: 10.1002/cpt.2350. Epub 2021 Jul 22. Clin Pharmacol Ther. 2021. PMID: 34216021 Free PMC article.

42

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.

43

Genome-Wide Approach to Measure Variant-Based Heritability of Drug Outcome Phenotypes.

Muhammad A, Aka IT, Birdwell KA, Gordon AS, Roden DM, Wei WQ, Mosley JD, Van Driest SL. Muhammad A, et al. Clin Pharmacol Ther. 2021 Sep;110(3):714-722. doi: 10.1002/cpt.2323. Epub 2021 Jul 12. Clin Pharmacol Ther. 2021. PMID: 34151428 Free PMC article.

44

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.

45

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.

46

Pharmacogene Variation Consortium: A Global Resource and Repository for Pharmacogene Variation.

Gaedigk A, Casey ST, Whirl-Carrillo M, Miller NA, Klein TE. Gaedigk A, et al. Clin Pharmacol Ther. 2021 Sep;110(3):542-545. doi: 10.1002/cpt.2321. Epub 2021 Jun 29. Clin Pharmacol Ther. 2021. PMID: 34091888 Free PMC article. No abstract available.

47

Clinical Pharmacogenetics Implementation Consortium Guideline for the Use of Aminoglycosides Based on MT-RNR1 Genotype.

McDermott JH, Wolf J, Hoshitsuki K, Huddart R, Caudle KE, Whirl-Carrillo M, Steyger PS, Smith RJH, Cody N, Rodriguez-Antona C, Klein TE, Newman WG. McDermott JH, et al. Clin Pharmacol Ther. 2022 Feb;111(2):366-372. doi: 10.1002/cpt.2309. Epub 2021 Jun 20. Clin Pharmacol Ther. 2022. PMID: 34032273 Free PMC article.

48

Opportunities and challenges for the computational interpretation of rare variation in clinically important genes.

McInnes G, Sharo AG, Koleske ML, Brown JEH, Norstad M, Adhikari AN, Wang S, Brenner SE, Halpern J, Koenig BA, Magnus DC, Gallagher RC, Giacomini KM, Altman RB. McInnes G, et al. Am J Hum Genet. 2021 Apr 1;108(4):535-548. doi: 10.1016/j.ajhg.2021.03.003. Am J Hum Genet. 2021. PMID: 33798442 Free PMC article. Review.

49

Drug Response Pharmacogenetics for 200,000 UK Biobank Participants.

McInnes G, Altman RB. McInnes G, et al. Pac Symp Biocomput. 2021;26:184-195. Pac Symp Biocomput. 2021. PMID: 33691016 Free PMC article.

50

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.

51

Modeling drug response using network-based personalized treatment prediction (NetPTP) with applications to inflammatory bowel disease.

Han L, Sayyid ZN, Altman RB. Han L, et al. PLoS Comput Biol. 2021 Feb 5;17(2):e1008631. doi: 10.1371/journal.pcbi.1008631. eCollection 2021 Feb. PLoS Comput Biol. 2021. PMID: 33544718 Free PMC article.

52

A New Era in Pharmacovigilance: Toward Real-World Data and Digital Monitoring.

Lavertu A, Vora B, Giacomini KM, Altman R, Rensi S. Lavertu A, et al. Clin Pharmacol Ther. 2021 May;109(5):1197-1202. doi: 10.1002/cpt.2172. Epub 2021 Feb 28. Clin Pharmacol Ther. 2021. PMID: 33492663 Free PMC article. Review.

53

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.

54

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.

55

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.

56

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.

57

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.

58

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.

59

PharmGKB Tutorial for Pharmacogenomics of Drugs Potentially Used in the Context of COVID-19.

Huddart R, Whirl-Carrillo M, Altman RB, Klein TE. Huddart R, et al. Clin Pharmacol Ther. 2021 Jan;109(1):116-122. doi: 10.1002/cpt.2067. Epub 2020 Oct 24. Clin Pharmacol Ther. 2021. PMID: 32978778 Free PMC article.

60

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.

61

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.

62

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.

63

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.

64

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.

65

Response to: Unveiling the guidance heterogeneity for genome-informed drug treatment interventions among regulatory bodies and research consortia.

Huddart R, Gong L, Sangkuhl K, Thorn CF, Whirl-Carrillo M, Caudle KE, Relling MV, Klein TE. Huddart R, et al. Pharmacol Res. 2020 Aug;158:104838. doi: 10.1016/j.phrs.2020.104838. Epub 2020 May 12. Pharmacol Res. 2020. PMID: 32407955 No abstract available.

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