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Commentary.
Druley TE. Druley TE. Clin Chem. 2013 Jan;59(1):50-1. doi: 10.1373/clinchem.2012.192310. Clin Chem. 2013. PMID: 23284014 No abstract available.
Whole-exome capture and sequencing identifies HEATR2 mutation as a cause of primary ciliary dyskinesia.
Horani A, Druley TE, Zariwala MA, Patel AC, Levinson BT, Van Arendonk LG, Thornton KC, Giacalone JC, Albee AJ, Wilson KS, Turner EH, Nickerson DA, Shendure J, Bayly PV, Leigh MW, Knowles MR, Brody SL, Dutcher SK, Ferkol TW. Horani A, et al. Am J Hum Genet. 2012 Oct 5;91(4):685-93. doi: 10.1016/j.ajhg.2012.08.022. Am J Hum Genet. 2012. PMID: 23040496 Free PMC article.
Traditional and targeted exome sequencing reveals common, rare and novel functional deleterious variants in RET-signaling complex in a cohort of living US patients with urinary tract malformations.
Chatterjee R, Ramos E, Hoffman M, VanWinkle J, Martin DR, Davis TK, Hoshi M, Hmiel SP, Beck A, Hruska K, Coplen D, Liapis H, Mitra R, Druley T, Austin P, Jain S. Chatterjee R, et al. Hum Genet. 2012 Nov;131(11):1725-38. doi: 10.1007/s00439-012-1181-3. Epub 2012 Jun 23. Hum Genet. 2012. PMID: 22729463 Free PMC article.
12 results