Skip to main page content
U.S. flag

An official website of the United States government

Dot gov

The .gov means it’s official.
Federal government websites often end in .gov or .mil. Before sharing sensitive information, make sure you’re on a federal government site.

Https

The site is secure.
The https:// ensures that you are connecting to the official website and that any information you provide is encrypted and transmitted securely.

Access keys NCBI Homepage MyNCBI Homepage Main Content Main Navigation

Search Page

Filters

My Custom Filters

Results by year

Table representation of search results timeline featuring number of search results per year.

Year Number of Results
2003 3
2004 3
2005 7
2006 8
2007 7
2008 11
2009 16
2010 13
2011 17
2012 15
2013 12
2014 13
2015 18
2016 14
2017 13
2018 18
2019 16
2020 16
2021 17
2022 14
2023 17
2024 11
2025 6

Publication date

Text availability

Article attribute

Article type

Additional filters

Article Language

Species

Sex

Age

Other

Search Results

257 results

Results by year

Filters applied: . Clear all
Page 1
Rare disease gene association discovery in the 100,000 Genomes Project.
Cipriani V, Vestito L, Magavern EF, Jacobsen JOB, Arno G, Behr ER, Benson KA, Bertoli M, Bockenhauer D, Bowl MR, Burley K, Chan LF, Chinnery P, Conlon PJ, Costa MA, Davidson AE, Dawson SJ, Elhassan EAE, Flanagan SE, Futema M, Gale DP, García-Ruiz S, Corcia CG, Griffin HR, Hambleton S, Hicks AR, Houlden H, Houlston RS, Howles SA, Kleta R, Lekkerkerker I, Lin S, Liskova P, Mitchison HH, Morsy H, Mumford AD, Newman WG, Neatu R, O'Toole EA, Ong ACM, Pagnamenta AT, Rahman S, Rajan N, Robinson PN, Ryten M, Sadeghi-Alavijeh O, Sayer JA, Shovlin CL, Taylor JC, Teltsh O, Tomlinson I, Tucci A, Turnbull C, van Eerde AM, Ware JS, Watts LM, Webster AR, Westbury SK, Zheng SL, Caulfield M, Smedley D. Cipriani V, et al. Among authors: caulfield m. Nature. 2025 Feb 26. doi: 10.1038/s41586-025-08623-w. Online ahead of print. Nature. 2025. PMID: 40011789
A United Kingdom nationally representative survey of public attitudes towards pharmacogenomics.
Magavern EF, Marengo G; Participant Panel at Genomics England; Sivathasan C, Mezzanzanica M, Wright AJ, Keen J, Sharma V, McDermott JH, Duckett C, McCormick D, Simmonds S, Walters E; National Centre for Social Research Team; Weinman J, Parry V, Newman WG, Caulfield MJ. Magavern EF, et al. Among authors: caulfield mj. QJM. 2025 Feb 20:hcaf035. doi: 10.1093/qjmed/hcaf035. Online ahead of print. QJM. 2025. PMID: 39971322
GWAS of CRP response to statins further supports the role of APOE in statin response: A GIST consortium study.
Magavern EF, Deshmukh H, Asselin G, Theusch E, Trompet S, Li X, Noordam R, Chen YI, Seeman TE, Taylor KD, Post WS, Tardif JC, Paul DS, Benjamin EJ, Heard-Costa NL, Vasan RS, Rotter JI, Krauss RM, Jukema JW, Ridker PM, Munroe PB, Caulfield MJ, Chasman DI, Dubé MP, Hitman GA, Warren HR; Genomic Investigation of Statin Therapy Consortium (GIST). Magavern EF, et al. Among authors: caulfield mj. Pharmacol Res. 2025 Feb;212:107575. doi: 10.1016/j.phrs.2024.107575. Epub 2025 Jan 9. Pharmacol Res. 2025. PMID: 39798939 Free article.
Large-Scale Pharmacogenomics Analysis of Patients With Cancer Within the 100,000 Genomes Project Combining Whole-Genome Sequencing and Medical Records to Inform Clinical Practice.
Leong IUS, Cabrera CP, Cipriani V, Ross PJ, Turner RM, Stuckey A, Sanghvi S, Pasko D, Moutsianas L, Odhams CA, Elgar GS, Chan G, Giess A, Walker S, Foulger RE, Williams EM, Daugherty LC, Rueda-Martin A, Rhodes DJ, Niblock O, Pickard A, Marks L, Leigh SEA, Welland MJ, Bleda M, Snow C, Deans Z, Murugaesu N, Scott RH, Barnes MR, Brown MA, Rendon A, Hill S, Sosinsky A, Caulfield MJ, McDonagh EM. Leong IUS, et al. Among authors: caulfield mj. J Clin Oncol. 2025 Feb 20;43(6):682-693. doi: 10.1200/JCO.23.02761. Epub 2024 Oct 31. J Clin Oncol. 2025. PMID: 39481076 Free PMC article.
Increased frequency of repeat expansion mutations across different populations.
Ibañez K, Jadhav B, Zanovello M, Gagliardi D, Clarkson C, Facchini S, Garg P, Martin-Trujillo A, Gies SJ, Galassi Deforie V, Dalmia A, Hensman Moss DJ, Vandrovcova J, Rocca C, Moutsianas L, Marini-Bettolo C, Walker H, Turner C, Shoai M, Long JD, Fratta P, Langbehn DR, Tabrizi SJ, Caulfield MJ, Cortese A, Escott-Price V, Hardy J, Houlden H, Sharp AJ, Tucci A. Ibañez K, et al. Among authors: caulfield mj. Nat Med. 2024 Nov;30(11):3357-3368. doi: 10.1038/s41591-024-03190-5. Epub 2024 Oct 1. Nat Med. 2024. PMID: 39354197 Free PMC article.
Large-scale exome array summary statistics resources for glycemic traits to aid effector gene prioritization.
Willems SM, Ng NHJ, Fernandez J, Fine RS, Wheeler E, Wessel J, Kitajima H, Marenne G, Sim X, Yaghootkar H, Wang S, Chen S, Chen Y, Chen YI, Grarup N, Li-Gao R, Varga TV, Asimit JL, Feng S, Strawbridge RJ, Kleinbrink EL, Ahluwalia TS, An P, Appel EV, Arking DE, Auvinen J, Bielak LF, Bihlmeyer NA, Bork-Jensen J, Brody JA, Campbell A, Chu AY, Davies G, Demirkan A, Floyd JS, Giulianini F, Guo X, Gustafsson S, Jackson AU, Jakobsdottir J, Järvelin MR, Jensen RA, Kanoni S, Keinanen-Kiukaanniemi S, Li M, Lu Y, Luan J, Manning AK, Marten J, Meidtner K, Mook-Kanamori DO, Muka T, Pistis G, Prins B, Rice KM, Sanna S, Smith AV, Smith JA, Southam L, Stringham HM, Tragante V, van der Laan SW, Warren HR, Yao J, Yiorkas AM, Zhang W, Zhao W, Graff M, Highland HM, Justice AE, Marouli E, Medina-Gomez C, Afaq S, Alhejily WA, Amin N, Asselbergs FW, Bonnycastle LL, Bots ML, Brandslund I, Chen J, Danesh J, de Mutsert R, Dehghan A, Ebeling T, Elliott P; EPIC-Interact Consortium; Farmaki AE, Faul JD, Franks PW, Franks S, Fritsche A, Gjesing AP, Goodarzi MO, Gudnason V, Hallmans G, Harris TB, Herzig KH, Hivert MF, Jørgensen T, Jørgensen ME, Jousilahti P, Kajantie E, Karaleftheri M, Kardia SLR, Kinnunen L, K… See abstract for full author list ➔ Willems SM, et al. Among authors: caulfield mj. Wellcome Open Res. 2023 Oct 20;8:483. doi: 10.12688/wellcomeopenres.18754.1. eCollection 2023. Wellcome Open Res. 2023. PMID: 39280063 Free PMC article.
A Genomics England haplotype reference panel and imputation of UK Biobank.
Shi S, Rubinacci S, Hu S, Moutsianas L, Stuckey A, Need AC, Palamara PF, Caulfield M, Marchini J, Myers S. Shi S, et al. Among authors: caulfield m. Nat Genet. 2024 Sep;56(9):1800-1803. doi: 10.1038/s41588-024-01868-7. Epub 2024 Aug 12. Nat Genet. 2024. PMID: 39134668 Free PMC article.
257 results