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Applying a genetic risk score model to enhance prediction of future multiple sclerosis diagnosis at first presentation with optic neuritis.
Loginovic P, Wang F, Li J, Ferrat L, Mirshahi UL, Rao HS, Petzold A, Tyrrell J, Green HD, Weedon MN, Ganna A, Tuomi T, Carey DJ; UKBB Eye & Vision Consortium; FinnGen; Geisinger-Regeneron DiscovEHR Collaboration; Oram RA, Braithwaite T. Loginovic P, et al. Among authors: oram ra. Nat Commun. 2024 Feb 28;15(1):1415. doi: 10.1038/s41467-024-44917-9. Nat Commun. 2024. PMID: 38418465 Free PMC article.
An in-frame deletion at the polymerase active site of POLD1 causes a multisystem disorder with lipodystrophy.
Weedon MN, Ellard S, Prindle MJ, Caswell R, Lango Allen H, Oram R, Godbole K, Yajnik CS, Sbraccia P, Novelli G, Turnpenny P, McCann E, Goh KJ, Wang Y, Fulford J, McCulloch LJ, Savage DB, O'Rahilly S, Kos K, Loeb LA, Semple RK, Hattersley AT. Weedon MN, et al. Nat Genet. 2013 Aug;45(8):947-50. doi: 10.1038/ng.2670. Epub 2013 Jun 16. Nat Genet. 2013. PMID: 23770608 Free PMC article.
Genetic risk scores in adult-onset type 1 diabetes - Authors' reply.
Thomas NJ, Jones SE, Weedon MN, Shields BM, Hattersley AT, Oram RA. Thomas NJ, et al. Among authors: oram ra. Lancet Diabetes Endocrinol. 2018 Mar;6(3):169. doi: 10.1016/S2213-8587(18)30046-9. Lancet Diabetes Endocrinol. 2018. PMID: 29475496 No abstract available.
Genetic scores to stratify risk of developing multiple islet autoantibodies and type 1 diabetes: A prospective study in children.
Bonifacio E, Beyerlein A, Hippich M, Winkler C, Vehik K, Weedon MN, Laimighofer M, Hattersley AT, Krumsiek J, Frohnert BI, Steck AK, Hagopian WA, Krischer JP, Lernmark Å, Rewers MJ, She JX, Toppari J, Akolkar B, Oram RA, Rich SS, Ziegler AG; TEDDY Study Group. Bonifacio E, et al. Among authors: oram ra. PLoS Med. 2018 Apr 3;15(4):e1002548. doi: 10.1371/journal.pmed.1002548. eCollection 2018 Apr. PLoS Med. 2018. PMID: 29614081 Free PMC article.
Clinical and research uses of genetic risk scores in type 1 diabetes.
Sharp SA, Weedon MN, Hagopian WA, Oram RA. Sharp SA, et al. Among authors: oram ra. Curr Opin Genet Dev. 2018 Jun;50:96-102. doi: 10.1016/j.gde.2018.03.009. Epub 2018 Apr 24. Curr Opin Genet Dev. 2018. PMID: 29702327 Free PMC article. Review.
105 results