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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: haefliger c. 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.
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: haefliger c. 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. Among authors: haefliger c. 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. Among authors: haefliger c. 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.
Spontaneous Coronary Artery Dissection: Insights on Rare Genetic Variation From Genome Sequencing.
Carss KJ, Baranowska AA, Armisen J, Webb TR, Hamby SE, Premawardhana D, Al-Hussaini A, Wood A, Wang Q, Deevi SVV, Vitsios D, Lewis SH, Kotecha D, Bouatia-Naji N, Hesselson S, Iismaa SE, Tarr I, McGrath-Cadell L, Muller DW, Dunwoodie SL, Fatkin D, Graham RM, Giannoulatou E, Samani NJ, Petrovski S, Haefliger C, Adlam D. Carss KJ, et al. Among authors: haefliger c. Circ Genom Precis Med. 2020 Dec;13(6):e003030. doi: 10.1161/CIRCGEN.120.003030. Epub 2020 Oct 30. Circ Genom Precis Med. 2020. PMID: 33125268 Free PMC article.
Assessing the Role of Rare Genetic Variation in Patients With Heart Failure.
Povysil G, Chazara O, Carss KJ, Deevi SVV, Wang Q, Armisen J, Paul DS, Granger CB, Kjekshus J, Aggarwal V, Haefliger C, Goldstein DB. Povysil G, et al. Among authors: haefliger c. JAMA Cardiol. 2021 Apr 1;6(4):379-386. doi: 10.1001/jamacardio.2020.6500. JAMA Cardiol. 2021. PMID: 33326012 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: haefliger c. 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.
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: haefliger c. 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.
Pharmacogenomic study of heart failure and candesartan response from the CHARM programme.
Dubé MP, Chazara O, Lemaçon A, Asselin G, Provost S, Barhdadi A, Lemieux Perreault LP, Mongrain I, Wang Q, Carss K, Paul DS, Cunningham JW, Rouleau J, Solomon SD, McMurray JJV, Yusuf S, Granger CB, Haefliger C, de Denus S, Tardif JC. Dubé MP, et al. Among authors: haefliger c. ESC Heart Fail. 2022 Oct;9(5):2997-3008. doi: 10.1002/ehf2.14026. Epub 2022 Jun 23. ESC Heart Fail. 2022. PMID: 35736394 Free PMC article.
Metabolic dysfunction-related liver disease as a risk factor for cancer.
Taylor A, Siddiqui MK, Ambery P, Armisen J, Challis BG, Haefliger C, Pearson ER, Doney ASF, Dillon JF, Palmer CNA. Taylor A, et al. Among authors: haefliger c. BMJ Open Gastroenterol. 2022 Mar;9(1):e000817. doi: 10.1136/bmjgast-2021-000817. BMJ Open Gastroenterol. 2022. PMID: 35338048 Free PMC article.
24 results