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Page 1
Rare variant associations with plasma protein levels in the UK Biobank.
Dhindsa RS, Burren OS, Sun BB, Prins BP, Matelska D, Wheeler E, Mitchell J, Oerton E, Hristova VA, Smith KR, Carss K, Wasilewski S, Harper AR, Paul DS, Fabre MA, Runz H, Viollet C, Challis B, Platt A; AstraZeneca Genomics Initiative; Vitsios D, Ashley EA, Whelan CD, Pangalos MN, Wang Q, Petrovski S. Dhindsa RS, et al. Among authors: platt a. Nature. 2023 Oct;622(7982):339-347. doi: 10.1038/s41586-023-06547-x. Epub 2023 Oct 4. Nature. 2023. PMID: 37794183 Free PMC article.
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. Among authors: platt a. 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.
Identification of a missense variant in SPDL1 associated with idiopathic pulmonary fibrosis.
Dhindsa RS, Mattsson J, Nag A, Wang Q, Wain LV, Allen R, Wigmore EM, Ibanez K, Vitsios D, Deevi SVV, Wasilewski S, Karlsson M, Lassi G, Olsson H, Muthas D, Monkley S, Mackay A, Murray L, Young S, Haefliger C; FinnGen Consortium; Maher TM, Belvisi MG, Jenkins G, Molyneaux PL, Platt A, Petrovski S. Dhindsa RS, et al. Among authors: platt a. Commun Biol. 2021 Mar 23;4(1):392. doi: 10.1038/s42003-021-01910-y. Commun Biol. 2021. PMID: 33758299 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.
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: platt a. 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.
Rare and Common Variants in KIF15 Contribute to Genetic Risk of Idiopathic Pulmonary Fibrosis.
Zhang D, Povysil G, Kobeissy PH, Li Q, Wang B, Amelotte M, Jaouadi H, Newton CA, Maher TM, Molyneaux PL, Noth I, Martinez FJ, Raghu G, Todd JL, Palmer SM, Haefliger C, Platt A, Petrovski S, Garcia JA, Goldstein DB, Garcia CK. Zhang D, et al. Among authors: platt a. Am J Respir Crit Care Med. 2022 Jul 1;206(1):56-69. doi: 10.1164/rccm.202110-2439OC. Am J Respir Crit Care Med. 2022. PMID: 35417304 Free PMC article.
Genetic architecture of telomere length in 462,666 UK Biobank whole-genome sequences.
Burren OS, Dhindsa RS, Deevi SVV, Wen S, Nag A, Mitchell J, Hu F, Loesch DP, Smith KR, Razdan N, Olsson H, Platt A, Vitsios D, Wu Q; AstraZeneca Genomics Initiative; Codd V, Nelson CP, Samani NJ, March RE, Wasilewski S, Carss K, Fabre M, Wang Q, Pangalos MN, Petrovski S. Burren OS, et al. Among authors: platt a. Nat Genet. 2024 Sep;56(9):1832-1840. doi: 10.1038/s41588-024-01884-7. Epub 2024 Aug 27. Nat Genet. 2024. PMID: 39192095 Free PMC article.
Virtual terminator nucleotides for next-generation DNA sequencing.
Bowers J, Mitchell J, Beer E, Buzby PR, Causey M, Efcavitch JW, Jarosz M, Krzymanska-Olejnik E, Kung L, Lipson D, Lowman GM, Marappan S, McInerney P, Platt A, Roy A, Siddiqi SM, Steinmann K, Thompson JF. Bowers J, et al. Among authors: platt a. Nat Methods. 2009 Aug;6(8):593-5. doi: 10.1038/nmeth.1354. Epub 2009 Jul 20. Nat Methods. 2009. PMID: 19620973 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: platt a. 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.
Dysregulation of COVID-19 related gene expression in the COPD lung.
Watson A, Öberg L, Angermann B, Spalluto CM, Hühn M, Burke H, Cellura D, Freeman A, Muthas D, Etal D, Belfield G, Karlsson F, Nordström K, Ostridge K, Staples KJ, Wilkinson T; MICA II Studygroup. Watson A, et al. Respir Res. 2021 May 29;22(1):164. doi: 10.1186/s12931-021-01755-3. Respir Res. 2021. PMID: 34051791 Free PMC article.
382 results