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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. Among authors: laver tw. 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.
Heterozygous RFX6 protein truncating variants are associated with MODY with reduced penetrance.
Patel KA, Kettunen J, Laakso M, Stančáková A, Laver TW, Colclough K, Johnson MB, Abramowicz M, Groop L, Miettinen PJ, Shepherd MH, Flanagan SE, Ellard S, Inagaki N, Hattersley AT, Tuomi T, Cnop M, Weedon MN. Patel KA, et al. Among authors: laver tw. Nat Commun. 2017 Oct 12;8(1):888. doi: 10.1038/s41467-017-00895-9. Nat Commun. 2017. PMID: 29026101 Free PMC article.
PLIN1 Haploinsufficiency Is Not Associated With Lipodystrophy.
Laver TW, Patel KA, Colclough K, Curran J, Dale J, Davis N, Savage DB, Flanagan SE, Ellard S, Hattersley AT, Weedon MN. Laver TW, et al. J Clin Endocrinol Metab. 2018 Sep 1;103(9):3225-3230. doi: 10.1210/jc.2017-02662. J Clin Endocrinol Metab. 2018. PMID: 30020498 Free PMC article.
31 results