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Page 1
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.
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.
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.
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.
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 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.
Genome-wide Enrichment of TERT Rare Variants in Idiopathic Pulmonary Fibrosis Patients of Latino Ancestry.
Zhang D, Povysil G, Newton CA, Maher TM, Molyneaux PL, Noth I, Martinez FJ, Raghu G, Todd JL, Palmer SM, Platt A, Petrovski S, Goldstein DB, Garcia CK. Zhang D, et al. Among authors: platt a. Am J Respir Crit Care Med. 2022 Oct 1;206(7):903-905. doi: 10.1164/rccm.202203-0622LE. Am J Respir Crit Care Med. 2022. PMID: 35666822 Free PMC article. No abstract available.
Recontacting biobank participants to collect lifestyle, behavioural and cognitive information via online questionnaires: lessons from a pilot study within FinnGen.
Rodosthenous RS, Niemi MEK, Kallio L, Perala M, Terho P, Knopp T, Punkka E, Makkonen EM, Nurmi P, Makela J, Wihuri P, Hautalahti M, Moffatt C, Martini P, Germine L, Makela VA, Karhunen OA, Lahti J, Hiekkalinna TS, Jyrhama T, Shen HY, Runz H, Palotie A, Perola M, Ganna A; FinnGen. Rodosthenous RS, et al. BMJ Open. 2022 Oct 5;12(10):e064695. doi: 10.1136/bmjopen-2022-064695. BMJ Open. 2022. PMID: 36198465 Free PMC article.
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.
366 results