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122 results

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Page 1
Detection of distant relatedness in biobanks for identification of undiagnosed carriers of a Mendelian disease variant: application to Long QT Syndrome.
Lancaster MC, Chen HH, Shoemaker MB, Fleming MR, Baker JT, Evans G, Polikowsky HG, Samuels DC, Huff CD, Roden DM, Below JE. Lancaster MC, et al. Among authors: below je. Res Sq [Preprint]. 2023 Sep 15:rs.3.rs-3314860. doi: 10.21203/rs.3.rs-3314860/v1. Res Sq. 2023. PMID: 37790303 Free PMC article. Preprint.
Rare variants in PPARG with decreased activity in adipocyte differentiation are associated with increased risk of type 2 diabetes.
Majithia AR, Flannick J, Shahinian P, Guo M, Bray MA, Fontanillas P, Gabriel SB; GoT2D Consortium; NHGRI JHS/FHS Allelic Spectrum Project; SIGMA T2D Consortium; T2D-GENES Consortium; Rosen ED, Altshuler D. Majithia AR, et al. Proc Natl Acad Sci U S A. 2014 Sep 9;111(36):13127-32. doi: 10.1073/pnas.1410428111. Epub 2014 Aug 25. Proc Natl Acad Sci U S A. 2014. PMID: 25157153 Free PMC article.
Mutations in ECEL1 cause distal arthrogryposis type 5D.
McMillin MJ, Below JE, Shively KM, Beck AE, Gildersleeve HI, Pinner J, Gogola GR, Hecht JT, Grange DK, Harris DJ, Earl DL, Jagadeesh S, Mehta SG, Robertson SP, Swanson JM, Faustman EM, Mefford HC, Shendure J, Nickerson DA, Bamshad MJ; University of Washington Center for Mendelian Genomics. McMillin MJ, et al. Among authors: below je. Am J Hum Genet. 2013 Jan 10;92(1):150-6. doi: 10.1016/j.ajhg.2012.11.014. Epub 2012 Dec 20. Am J Hum Genet. 2013. PMID: 23261301 Free PMC article.
Genome-wide association and meta-analysis in populations from Starr County, Texas, and Mexico City identify type 2 diabetes susceptibility loci and enrichment for expression quantitative trait loci in top signals.
Below JE, Gamazon ER, Morrison JV, Konkashbaev A, Pluzhnikov A, McKeigue PM, Parra EJ, Elbein SC, Hallman DM, Nicolae DL, Bell GI, Cruz M, Cox NJ, Hanis CL. Below JE, et al. Diabetologia. 2011 Aug;54(8):2047-55. doi: 10.1007/s00125-011-2188-3. Epub 2011 Jun 7. Diabetologia. 2011. PMID: 21647700 Free PMC article.
A genome-wide association study identifies a novel major locus for glycemic control in type 1 diabetes, as measured by both A1C and glucose.
Paterson AD, Waggott D, Boright AP, Hosseini SM, Shen E, Sylvestre MP, Wong I, Bharaj B, Cleary PA, Lachin JM; MAGIC (Meta-Analyses of Glucose and Insulin-related traits Consortium); Below JE, Nicolae D, Cox NJ, Canty AJ, Sun L, Bull SB; Diabetes Control and Complications Trial/Epidemiology of Diabetes Interventions and Complications Research Group. Paterson AD, et al. Among authors: below je. Diabetes. 2010 Feb;59(2):539-49. doi: 10.2337/db09-0653. Epub 2009 Oct 29. Diabetes. 2010. PMID: 19875614 Free PMC article.
Correlation of rare coding variants in the gene encoding human glucokinase regulatory protein with phenotypic, cellular, and kinetic outcomes.
Rees MG, Ng D, Ruppert S, Turner C, Beer NL, Swift AJ, Morken MA, Below JE, Blech I; NISC Comparative Sequencing Program; Mullikin JC, McCarthy MI, Biesecker LG, Gloyn AL, Collins FS. Rees MG, et al. Among authors: below je. J Clin Invest. 2012 Jan;122(1):205-17. doi: 10.1172/JCI46425. Epub 2011 Dec 19. J Clin Invest. 2012. PMID: 22182842 Free PMC article.
Insulin gene mutations as a cause of permanent neonatal diabetes.
Støy J, Edghill EL, Flanagan SE, Ye H, Paz VP, Pluzhnikov A, Below JE, Hayes MG, Cox NJ, Lipkind GM, Lipton RB, Greeley SA, Patch AM, Ellard S, Steiner DF, Hattersley AT, Philipson LH, Bell GI; Neonatal Diabetes International Collaborative Group. Støy J, et al. Among authors: below je. Proc Natl Acad Sci U S A. 2007 Sep 18;104(38):15040-4. doi: 10.1073/pnas.0707291104. Epub 2007 Sep 12. Proc Natl Acad Sci U S A. 2007. PMID: 17855560 Free PMC article.
122 results