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Challenges and solutions for gene identification in the presence of familial locus heterogeneity.
Rehman AU, Santos-Cortez RL, Drummond MC, Shahzad M, Lee K, Morell RJ, Ansar M, Jan A, Wang X, Aziz A, Riazuddin S, Smith JD, Wang GT, Ahmed ZM, Gul K, Shearer AE, Smith RJ, Shendure J, Bamshad MJ, Nickerson DA; University of Washington Center for Mendelian Genomics; Hinnant J, Khan SN, Fisher RA, Ahmad W, Friderici KH, Riazuddin S, Friedman TB, Wilch ES, Leal SM. Rehman AU, et al. Among authors: friderici kh. Eur J Hum Genet. 2015 Sep;23(9):1207-15. doi: 10.1038/ejhg.2014.266. Epub 2014 Dec 10. Eur J Hum Genet. 2015. PMID: 25491636 Free PMC article.
Actin in hair cells and hearing loss.
Drummond MC, Belyantseva IA, Friderici KH, Friedman TB. Drummond MC, et al. Hear Res. 2012 Jun;288(1-2):89-99. doi: 10.1016/j.heares.2011.12.003. Epub 2011 Dec 13. Hear Res. 2012. PMID: 22200607 Free PMC article. Review.
Expression of GJB2 and GJB6 is reduced in a novel DFNB1 allele.
Wilch E, Zhu M, Burkhart KB, Regier M, Elfenbein JL, Fisher RA, Friderici KH. Wilch E, et al. Am J Hum Genet. 2006 Jul;79(1):174-9. doi: 10.1086/505333. Epub 2006 May 17. Am J Hum Genet. 2006. PMID: 16773579 Free PMC article.
Connexin 26 35delG does not represent a mutational hotspot.
Rothrock CR, Murgia A, Sartorato EL, Leonardi E, Wei S, Lebeis SL, Yu LE, Elfenbein JL, Fisher RA, Friderici KH. Rothrock CR, et al. Hum Genet. 2003 Jul;113(1):18-23. doi: 10.1007/s00439-003-0944-2. Epub 2003 Apr 9. Hum Genet. 2003. PMID: 12684873
A novel DFNB1 deletion allele supports the existence of a distant cis-regulatory region that controls GJB2 and GJB6 expression.
Wilch E, Azaiez H, Fisher RA, Elfenbein J, Murgia A, Birkenhäger R, Bolz H, Da Silva-Costa SM, Del Castillo I, Haaf T, Hoefsloot L, Kremer H, Kubisch C, Le Marechal C, Pandya A, Sartorato EL, Schneider E, Van Camp G, Wuyts W, Smith RJ, Friderici KH. Wilch E, et al. Among authors: friderici kh. Clin Genet. 2010 Sep;78(3):267-74. doi: 10.1111/j.1399-0004.2010.01387.x. Epub 2010 Mar 1. Clin Genet. 2010. PMID: 20236118 Free PMC article.
Gamma-actin is required for cytoskeletal maintenance but not development.
Belyantseva IA, Perrin BJ, Sonnemann KJ, Zhu M, Stepanyan R, McGee J, Frolenkov GI, Walsh EJ, Friderici KH, Friedman TB, Ervasti JM. Belyantseva IA, et al. Proc Natl Acad Sci U S A. 2009 Jun 16;106(24):9703-8. doi: 10.1073/pnas.0900221106. Epub 2009 Jun 3. Proc Natl Acad Sci U S A. 2009. PMID: 19497859 Free PMC article.
77 results