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Rare variant contribution to human disease in 281,104 UK Biobank exomes.
Wang Q, Dhindsa RS, Carss K, Harper AR, Nag A, Tachmazidou I, Vitsios D, Deevi SVV, Mackay A, Muthas D, Hühn M, Monkley S, Olsson H; AstraZeneca Genomics Initiative; Wasilewski S, Smith KR, March R, Platt A, Haefliger C, Petrovski S. Wang Q, et al. Among authors: march r. Nature. 2021 Sep;597(7877):527-532. doi: 10.1038/s41586-021-03855-y. Epub 2021 Aug 10. Nature. 2021. PMID: 34375979 Free PMC article.
Advancing human genetics research and drug discovery through exome sequencing of the UK Biobank.
Szustakowski JD, Balasubramanian S, Kvikstad E, Khalid S, Bronson PG, Sasson A, Wong E, Liu D, Wade Davis J, Haefliger C, Katrina Loomis A, Mikkilineni R, Noh HJ, Wadhawan S, Bai X, Hawes A, Krasheninina O, Ulloa R, Lopez AE, Smith EN, Waring JF, Whelan CD, Tsai EA, Overton JD, Salerno WJ, Jacob H, Szalma S, Runz H, Hinkle G, Nioi P, Petrovski S, Miller MR, Baras A, Mitnaul LJ, Reid JG; UKB-ESC Research Team. Szustakowski JD, et al. Nat Genet. 2021 Jul;53(7):942-948. doi: 10.1038/s41588-021-00885-0. Epub 2021 Jun 28. Nat Genet. 2021. PMID: 34183854 Review.
Exome-Based Rare-Variant Analyses in CKD.
Cameron-Christie S, Wolock CJ, Groopman E, Petrovski S, Kamalakaran S, Povysil G, Vitsios D, Zhang M, Fleckner J, March RE, Gelfman S, Marasa M, Li Y, Sanna-Cherchi S, Kiryluk K, Allen AS, Fellström BC, Haefliger C, Platt A, Goldstein DB, Gharavi AG. Cameron-Christie S, et al. J Am Soc Nephrol. 2019 Jun;30(6):1109-1122. doi: 10.1681/ASN.2018090909. Epub 2019 May 13. J Am Soc Nephrol. 2019. PMID: 31085678 Free PMC article.
Diagnostic Utility of Exome Sequencing for Kidney Disease.
Groopman EE, Marasa M, Cameron-Christie S, Petrovski S, Aggarwal VS, Milo-Rasouly H, Li Y, Zhang J, Nestor J, Krithivasan P, Lam WY, Mitrotti A, Piva S, Kil BH, Chatterjee D, Reingold R, Bradbury D, DiVecchia M, Snyder H, Mu X, Mehl K, Balderes O, Fasel DA, Weng C, Radhakrishnan J, Canetta P, Appel GB, Bomback AS, Ahn W, Uy NS, Alam S, Cohen DJ, Crew RJ, Dube GK, Rao MK, Kamalakaran S, Copeland B, Ren Z, Bridgers J, Malone CD, Mebane CM, Dagaonkar N, Fellström BC, Haefliger C, Mohan S, Sanna-Cherchi S, Kiryluk K, Fleckner J, March R, Platt A, Goldstein DB, Gharavi AG. Groopman EE, et al. Among authors: march r. N Engl J Med. 2019 Jan 10;380(2):142-151. doi: 10.1056/NEJMoa1806891. Epub 2018 Dec 26. N Engl J Med. 2019. PMID: 30586318 Free PMC article.
Impact of a five-dimensional framework on R&D productivity at AstraZeneca.
Morgan P, Brown DG, Lennard S, Anderton MJ, Barrett JC, Eriksson U, Fidock M, Hamrén B, Johnson A, March RE, Matcham J, Mettetal J, Nicholls DJ, Platz S, Rees S, Snowden MA, Pangalos MN. Morgan P, et al. Nat Rev Drug Discov. 2018 Mar;17(3):167-181. doi: 10.1038/nrd.2017.244. Epub 2018 Jan 19. Nat Rev Drug Discov. 2018. PMID: 29348681
Integrated analyses of growth differentiation factor-15 concentration and cardiometabolic diseases in humans.
Lemmelä S, Wigmore EM, Benner C, Havulinna AS, Ong RMY, Kempf T, Wollert KC, Blankenberg S, Zeller T, Peters JE, Salomaa V, Fritsch M, March R, Palotie A, Daly M, Butterworth AS, Kinnunen M, Paul DS, Matakidou A. Lemmelä S, et al. Among authors: march r. Elife. 2022 Aug 2;11:e76272. doi: 10.7554/eLife.76272. Elife. 2022. PMID: 35916366 Free PMC article.
Structural Variants at the BRCA1/2 Loci are a Common Source of Homologous Repair Deficiency in High-grade Serous Ovarian Carcinoma.
Ewing A, Meynert A, Churchman M, Grimes GR, Hollis RL, Herrington CS, Rye T, Bartos C, Croy I, Ferguson M, Lennie M, McGoldrick T, McPhail N, Siddiqui N, Dowson S, Glasspool R, Mackean M, Nussey F, McDade B, Ennis D, McMahon L, Matakidou A, Dougherty B, March R, Barrett JC, McNeish IA; Scottish Genomes Partnership; Biankin AV, Roxburgh P, Gourley C, Semple CA. Ewing A, et al. Among authors: march r. Clin Cancer Res. 2021 Jun 1;27(11):3201-3214. doi: 10.1158/1078-0432.CCR-20-4068. Epub 2021 Mar 19. Clin Cancer Res. 2021. PMID: 33741650 Free PMC article.
Multiomic Characterization of High-Grade Serous Ovarian Carcinoma Enables High-Resolution Patient Stratification.
Hollis RL, Meynert AM, Michie CO, Rye T, Churchman M, Hallas-Potts A, Croy I, McCluggage WG, Williams ARW, Bartos C, Iida Y, Okamoto A, Dougherty B, Barrett JC, March R, Matakidou A, Roxburgh P, Semple CA, Harkin DP, Kennedy R, Herrington CS, Gourley C. Hollis RL, et al. Among authors: march r. Clin Cancer Res. 2022 Aug 15;28(16):3546-3556. doi: 10.1158/1078-0432.CCR-22-0368. Clin Cancer Res. 2022. PMID: 35696721 Free PMC article.
A novel automated SARS-CoV-2 saliva PCR test protects a global asymptomatic workforce.
Carter N, Clausen M, Halpin RA, Blackmore C, Cai K, Delpuech O, Kohlmann A, Magnusson O, March R, O'Neill D, Prakash K, Sherwood J, Sundin T, Swift J, Tarakameh A, Wijdicks M, Wise D, Fidock M. Carter N, et al. Among authors: march r. Sci Rep. 2021 Jun 16;11(1):12676. doi: 10.1038/s41598-021-92070-w. Sci Rep. 2021. PMID: 34135391 Free PMC article.
198 results