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A novel ICK mutation causes ciliary disruption and lethal endocrine-cerebro-osteodysplasia syndrome.
Oud MM, Bonnard C, Mans DA, Altunoglu U, Tohari S, Ng AYJ, Eskin A, Lee H, Rupar CA, de Wagenaar NP, Wu KM, Lahiry P, Pazour GJ, Nelson SF, Hegele RA, Roepman R, Kayserili H, Venkatesh B, Siu VM, Reversade B, Arts HH. Oud MM, et al. Among authors: hegele ra. Cilia. 2016 Apr 11;5:8. doi: 10.1186/s13630-016-0029-1. eCollection 2016. Cilia. 2016. PMID: 27069622 Free PMC article.
Cardiomyopathy in congenital complete lipodystrophy.
Bhayana S, Siu VM, Joubert GI, Clarson CL, Cao H, Hegele RA. Bhayana S, et al. Among authors: hegele ra. Clin Genet. 2002 Apr;61(4):283-7. doi: 10.1034/j.1399-0004.2002.610407.x. Clin Genet. 2002. PMID: 12030893
Genetics of metabolic syndrome.
Joy T, Lahiry P, Pollex RL, Hegele RA. Joy T, et al. Among authors: hegele ra. Curr Diab Rep. 2008 Apr;8(2):141-8. doi: 10.1007/s11892-008-0025-y. Curr Diab Rep. 2008. PMID: 18445357 Review.
A multiplex human syndrome implicates a key role for intestinal cell kinase in development of central nervous, skeletal, and endocrine systems.
Lahiry P, Wang J, Robinson JF, Turowec JP, Litchfield DW, Lanktree MB, Gloor GB, Puffenberger EG, Strauss KA, Martens MB, Ramsay DA, Rupar CA, Siu V, Hegele RA. Lahiry P, et al. Among authors: hegele ra. Am J Hum Genet. 2009 Feb;84(2):134-47. doi: 10.1016/j.ajhg.2008.12.017. Epub 2009 Jan 29. Am J Hum Genet. 2009. PMID: 19185282 Free PMC article.
Uncloaking the genetic determinants of metabolic syndrome.
Lahiry P, Pollex RL, Hegele RA. Lahiry P, et al. Among authors: hegele ra. J Nutrigenet Nutrigenomics. 2008;1(3):118-25. doi: 10.1159/000112459. Epub 2008 Feb 20. J Nutrigenet Nutrigenomics. 2008. PMID: 19776621 Review.
962 results