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2022 11
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Reduced penetrance of MODY-associated HNF1A/HNF4A variants but not GCK variants in clinically unselected cohorts.
Mirshahi UL, Colclough K, Wright CF, Wood AR, Beaumont RN, Tyrrell J, Laver TW, Stahl R, Golden A, Goehringer JM; Geisinger-Regeneron DiscovEHR Collaboration; Frayling TF, Hattersley AT, Carey DJ, Weedon MN, Patel KA. Mirshahi UL, et al. Am J Hum Genet. 2022 Nov 3;109(11):2018-2028. doi: 10.1016/j.ajhg.2022.09.014. Epub 2022 Oct 17. Am J Hum Genet. 2022. PMID: 36257325 Free PMC article.
Penetrance of pathogenic genetic variants associated with premature ovarian insufficiency.
Shekari S, Stankovic S, Gardner EJ, Hawkes G, Kentistou KA, Beaumont RN, Mörseburg A, Wood AR, Prague JK, Mishra GD, Day FR, Baptista J, Wright CF, Weedon MN, Hoffmann ER, Ruth KS, Ong KK, Perry JRB, Murray A. Shekari S, et al. Nat Med. 2023 Jul;29(7):1692-1699. doi: 10.1038/s41591-023-02405-5. Epub 2023 Jun 22. Nat Med. 2023. PMID: 37349538
Prevalence of Fabry disease-causing variants in the UK Biobank.
Gilchrist M, Casanova F, Tyrrell JS, Cannon S, Wood AR, Fife N, Young K, Oram RA, Weedon MN. Gilchrist M, et al. J Med Genet. 2023 Apr;60(4):391-396. doi: 10.1136/jmg-2022-108523. Epub 2022 Aug 17. J Med Genet. 2023. PMID: 35977816 Free PMC article.
The impact of Mendelian sleep and circadian genetic variants in a population setting.
Weedon MN, Jones SE, Lane JM, Lee J, Ollila HM, Dawes A, Tyrrell J, Beaumont RN, Partonen T, Merikanto I, Rich SS, Rotter JI, Frayling TM, Rutter MK, Redline S, Sofer T, Saxena R, Wood AR. Weedon MN, et al. PLoS Genet. 2022 Sep 22;18(9):e1010356. doi: 10.1371/journal.pgen.1010356. eCollection 2022 Sep. PLoS Genet. 2022. PMID: 36137075 Free PMC article.
PLIN1 Haploinsufficiency Causes a Favorable Metabolic Profile.
Patel KA, Burman S, Laver TW, Hattersley AT, Frayling TM, Weedon MN. Patel KA, et al. J Clin Endocrinol Metab. 2022 May 17;107(6):e2318-e2323. doi: 10.1210/clinem/dgac104. J Clin Endocrinol Metab. 2022. PMID: 35235652 Free PMC article.
18 results