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Primary ciliary dyskinesia-causing mutations in Amish and Mennonite communities.
Ferkol TW, Puffenberger EG, Lie H, Helms C, Strauss KA, Bowcock A, Carson JL, Hazucha M, Morton DH, Patel AC, Leigh MW, Knowles MR, Zariwala MA. Ferkol TW, et al. J Pediatr. 2013 Aug;163(2):383-7. doi: 10.1016/j.jpeds.2013.01.061. Epub 2013 Mar 7. J Pediatr. 2013. PMID: 23477994 Free PMC article.
LRRC6 mutation causes primary ciliary dyskinesia with dynein arm defects.
Horani A, Ferkol TW, Shoseyov D, Wasserman MG, Oren YS, Kerem B, Amirav I, Cohen-Cymberknoh M, Dutcher SK, Brody SL, Elpeleg O, Kerem E. Horani A, et al. PLoS One. 2013;8(3):e59436. doi: 10.1371/journal.pone.0059436. Epub 2013 Mar 19. PLoS One. 2013. PMID: 23527195 Free PMC article.
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.