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2016 1
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Page 1
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.
Second international consensus report on gaps and opportunities for the clinical translation of precision diabetes medicine.
Tobias DK, Merino J, Ahmad A, Aiken C, Benham JL, Bodhini D, Clark AL, Colclough K, Corcoy R, Cromer SJ, Duan D, Felton JL, Francis EC, Gillard P, Gingras V, Gaillard R, Haider E, Hughes A, Ikle JM, Jacobsen LM, Kahkoska AR, Kettunen JLT, Kreienkamp RJ, Lim LL, Männistö JME, Massey R, Mclennan NM, Miller RG, Morieri ML, Most J, Naylor RN, Ozkan B, Patel KA, Pilla SJ, Prystupa K, Raghavan S, Rooney MR, Schön M, Semnani-Azad Z, Sevilla-Gonzalez M, Svalastoga P, Takele WW, Tam CH, Thuesen ACB, Tosur M, Wallace AS, Wang CC, Wong JJ, Yamamoto JM, Young K, Amouyal C, Andersen MK, Bonham MP, Chen M, Cheng F, Chikowore T, Chivers SC, Clemmensen C, Dabelea D, Dawed AY, Deutsch AJ, Dickens LT, DiMeglio LA, Dudenhöffer-Pfeifer M, Evans-Molina C, Fernández-Balsells MM, Fitipaldi H, Fitzpatrick SL, Gitelman SE, Goodarzi MO, Grieger JA, Guasch-Ferré M, Habibi N, Hansen T, Huang C, Harris-Kawano A, Ismail HM, Hoag B, Johnson RK, Jones AG, Koivula RW, Leong A, Leung GKW, Libman IM, Liu K, Long SA, Lowe WL Jr, Morton RW, Motala AA, Onengut-Gumuscu S, Pankow JS, Pathirana M, Pazmino S, Perez D, Petrie JR, Powe CE, Quinteros A, Jain R, Ray D, Ried-Larsen M, Saeed Z, Santhakumar V, Kanbour S, Sarkar … See abstract for full author list ➔ Tobias DK, et al. Nat Med. 2023 Oct;29(10):2438-2457. doi: 10.1038/s41591-023-02502-5. Epub 2023 Oct 5. Nat Med. 2023. PMID: 37794253 Free PMC article. Review.
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.
Non-coding variants disrupting a tissue-specific regulatory element in HK1 cause congenital hyperinsulinism.
Wakeling MN, Owens NDL, Hopkinson JR, Johnson MB, Houghton JAL, Dastamani A, Flaxman CS, Wyatt RC, Hewat TI, Hopkins JJ, Laver TW, van Heugten R, Weedon MN, De Franco E, Patel KA, Ellard S, Morgan NG, Cheesman E, Banerjee I, Hattersley AT, Dunne MJ; International Congenital Hyperinsulinism Consortium; Richardson SJ, Flanagan SE. Wakeling MN, et al. Among authors: patel ka. Nat Genet. 2022 Nov;54(11):1615-1620. doi: 10.1038/s41588-022-01204-x. Epub 2022 Nov 4. Nat Genet. 2022. PMID: 36333503 Free PMC article.
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.
Exocrine Proteins Including Trypsin(ogen) as a Key Biomarker in Type 1 Diabetes.
Bakinowska L, Vartak T, Phuthego T, Taylor M, Chandler K, Jerram ST, Williams S, Feldmann M, Johnson DG, Patel KA, Williams AJK, Long AE, Leslie RD, Gillespie KM; Action LADA Consortium; BOX Study Group. Bakinowska L, et al. Among authors: patel ka. Diabetes Care. 2023 Apr 1;46(4):714-721. doi: 10.2337/dc22-1317. Diabetes Care. 2023. PMID: 36701208
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.
47 results