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Rare variant associations with birth weight identify genes involved in adipose tissue regulation, placental function and insulin-like growth factor signalling.
Kentistou KA, Lim BEM, Kaisinger LR, Steinthorsdottir V, Sharp LN, Patel KA, Tragante V, Hawkes G, Gardner EJ, Olafsdottir T, Wood AR, Zhao Y, Thorleifsson G, Day FR, Ozanne SE, Hattersley AT, O'Rahilly S, Stefansson K, Ong KK, Beaumont RN, Perry JRB, Freathy RM. Kentistou KA, et al. Among authors: patel ka. medRxiv [Preprint]. 2024 Apr 3:2024.04.03.24305248. doi: 10.1101/2024.04.03.24305248. medRxiv. 2024. PMID: 38633783 Free PMC article. Preprint.
Precision diabetes: learning from monogenic diabetes.
Hattersley AT, Patel KA. Hattersley AT, et al. Among authors: patel ka. Diabetologia. 2017 May;60(5):769-777. doi: 10.1007/s00125-017-4226-2. Epub 2017 Mar 17. Diabetologia. 2017. PMID: 28314945 Free PMC article. Review.
All thresholds of maternal hyperglycaemia from the WHO 2013 criteria for gestational diabetes identify women with a higher genetic risk for type 2 diabetes.
Hughes AE, Hayes MG, Egan AM, Patel KA, Scholtens DM, Lowe LP, Lowe WL Jr, Dunne FP, Hattersley AT, Freathy RM. Hughes AE, et al. Among authors: patel ka. Wellcome Open Res. 2021 Mar 23;5:175. doi: 10.12688/wellcomeopenres.16097.3. eCollection 2020. Wellcome Open Res. 2021. PMID: 33869792 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.
Recurrent 17q12 microduplications contribute to renal disease but not diabetes.
Cannon S, Clissold R, Sukcharoen K, Tuke M, Hawkes G, Beaumont RN, Wood AR, Gilchrist M, Hattersley AT, Oram RA, Patel K, Wright C, Weedon MN. Cannon S, et al. J Med Genet. 2023 May;60(5):491-497. doi: 10.1136/jmg-2022-108615. Epub 2022 Sep 15. J Med Genet. 2023. PMID: 36109160 Free PMC article.
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: patel ka. 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.
Systematic Review of Treatment of Beta-Cell Monogenic Diabetes.
Naylor RN, Patel KA, Kettunen JLT, Männistö JME, Støy J, Beltrand J, Polak M; ADA/EASD PMDI; Vilsbøll T, Greeley SAW, Hattersley AT, Tuomi T. Naylor RN, et al. Among authors: patel ka. medRxiv [Preprint]. 2023 Sep 22:2023.05.12.23289807. doi: 10.1101/2023.05.12.23289807. medRxiv. 2023. PMID: 37214872 Free PMC article. Preprint.
217 results