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Exome sequencing identifies mutations in CCDC114 as a cause of primary ciliary dyskinesia.
Knowles MR, Leigh MW, Ostrowski LE, Huang L, Carson JL, Hazucha MJ, Yin W, Berg JS, Davis SD, Dell SD, Ferkol TW, Rosenfeld M, Sagel SD, Milla CE, Olivier KN, Turner EH, Lewis AP, Bamshad MJ, Nickerson DA, Shendure J, Zariwala MA; Genetic Disorders of Mucociliary Clearance Consortium. Knowles MR, et al. Among authors: ferkol tw. Am J Hum Genet. 2013 Jan 10;92(1):99-106. doi: 10.1016/j.ajhg.2012.11.003. Epub 2012 Dec 20. Am J Hum Genet. 2013. PMID: 23261302 Free PMC article.
Cystic fibrosis pulmonary exacerbations.
Ferkol T, Rosenfeld M, Milla CE. Ferkol T, et al. J Pediatr. 2006 Feb;148(2):259-64. doi: 10.1016/j.jpeds.2005.10.019. J Pediatr. 2006. PMID: 16492439 Review. No abstract available.
Genetic modifiers of liver disease in cystic fibrosis.
Bartlett JR, Friedman KJ, Ling SC, Pace RG, Bell SC, Bourke B, Castaldo G, Castellani C, Cipolli M, Colombo C, Colombo JL, Debray D, Fernandez A, Lacaille F, Macek M Jr, Rowland M, Salvatore F, Taylor CJ, Wainwright C, Wilschanski M, Zemková D, Hannah WB, Phillips MJ, Corey M, Zielenski J, Dorfman R, Wang Y, Zou F, Silverman LM, Drumm ML, Wright FA, Lange EM, Durie PR, Knowles MR; Gene Modifier Study Group. Bartlett JR, et al. JAMA. 2009 Sep 9;302(10):1076-83. doi: 10.1001/jama.2009.1295. JAMA. 2009. PMID: 19738092 Free PMC article.
Primary ciliary dyskinesia in Amish communities.
Lie H, Zariwala MA, Helms C, Bowcock AM, Carson JL, Brown DE 3rd, Hazucha MJ, Forsen J, Molter D, Knowles MR, Leigh MW, Ferkol TW. Lie H, et al. Among authors: ferkol tw. J Pediatr. 2010 Jun;156(6):1023-1025. doi: 10.1016/j.jpeds.2010.01.054. Epub 2010 Mar 29. J Pediatr. 2010. PMID: 20350728 Free PMC article.
Hitting the target: new treatments for cystic fibrosis.
Davis SD, Ferkol TW. Davis SD, et al. Among authors: ferkol tw. Am J Respir Crit Care Med. 2010 Dec 15;182(12):1460-1. doi: 10.1164/rccm.201008-1311ED. Am J Respir Crit Care Med. 2010. PMID: 21159902 No abstract available.
Diagnostic yield of nasal scrape biopsies in primary ciliary dyskinesia: a multicenter experience.
Olin JT, Burns K, Carson JL, Metjian H, Atkinson JJ, Davis SD, Dell SD, Ferkol TW, Milla CE, Olivier KN, Rosenfeld M, Baker B, Leigh MW, Knowles MR, Sagel SD; Genetic Disorders of Mucociliary Clearance Consortium. Olin JT, et al. Among authors: ferkol tw. Pediatr Pulmonol. 2011 May;46(5):483-8. doi: 10.1002/ppul.21402. Epub 2011 Jan 31. Pediatr Pulmonol. 2011. PMID: 21284095 Free PMC article.
The emerging genetics of primary ciliary dyskinesia.
Zariwala MA, Omran H, Ferkol TW. Zariwala MA, et al. Among authors: ferkol tw. Proc Am Thorac Soc. 2011 Sep;8(5):430-3. doi: 10.1513/pats.201103-023SD. Proc Am Thorac Soc. 2011. PMID: 21926394 Free PMC article. Review.
159 results