Year |
Citation |
Score |
2018 |
Nakano Y, Kelly MC, Rehman AU, Boger ET, Morell RJ, Kelley MW, Friedman TB, Bánfi B. Defects in the Alternative Splicing-Dependent Regulation of REST Cause Deafness. Cell. PMID 29961578 DOI: 10.1016/J.Cell.2018.06.004 |
0.323 |
|
2010 |
Rehman AU, Morell RJ, Belyantseva IA, Khan SY, Boger ET, Shahzad M, Ahmed ZM, Riazuddin S, Khan SN, Riazuddin S, Friedman TB. Targeted capture and next-generation sequencing identifies C9orf75, encoding taperin, as the mutated gene in nonsyndromic deafness DFNB79. American Journal of Human Genetics. 86: 378-88. PMID 20170899 DOI: 10.1016/j.ajhg.2010.01.030 |
0.355 |
|
2008 |
Riazuddin S, Nazli S, Ahmed ZM, Yang Y, Zulfiqar F, Shaikh RS, Zafar AU, Khan SN, Sabar F, Javid FT, Wilcox ER, Tsilou E, Boger ET, Sellers JR, Belyantseva IA, et al. Mutation spectrum of MYO7A and evaluation of a novel nonsyndromic deafness DFNB2 allele with residual function. Human Mutation. 29: 502-11. PMID 18181211 DOI: 10.1002/Humu.20677 |
0.401 |
|
2007 |
Nal N, Ahmed ZM, Erkal E, Alper OM, Lüleci G, Dinç O, Waryah AM, Ain Q, Tasneem S, Husnain T, Chattaraj P, Riazuddin S, Boger E, Ghosh M, Kabra M, et al. Mutational spectrum of MYO15A: the large N-terminal extension of myosin XVA is required for hearing. Human Mutation. 28: 1014-9. PMID 17546645 DOI: 10.1002/Humu.20556 |
0.394 |
|
2005 |
Belyantseva IA, Boger ET, Naz S, Frolenkov GI, Sellers JR, Ahmed ZM, Griffith AJ, Friedman TB. Myosin-XVa is required for tip localization of whirlin and differential elongation of hair-cell stereocilia. Nature Cell Biology. 7: 148-56. PMID 15654330 DOI: 10.1038/Ncb1219 |
0.329 |
|
2003 |
Belyantseva IA, Boger ET, Friedman TB. Myosin XVa localizes to the tips of inner ear sensory cell stereocilia and is essential for staircase formation of the hair bundle. Proceedings of the National Academy of Sciences of the United States of America. 100: 13958-63. PMID 14610277 DOI: 10.1073/pnas.2334417100 |
0.465 |
|
2003 |
Belyantseva IA, Labay V, Boger ET, Griffith AJ, Friedman TB. Stereocilia: the long and the short of it. Trends in Molecular Medicine. 9: 458-61. PMID 14604820 DOI: 10.1016/j.molmed.2003.09.008 |
0.439 |
|
2002 |
Friedman TB, Hinnant JT, Ghosh M, Boger ET, Riazuddin S, Lupski JR, Potocki L, Wilcox ER. DFNB3, spectrum of MYO15A recessive mutant alleles and an emerging genotype-phenotype correlation. Advances in Oto-Rhino-Laryngology. 61: 124-30. PMID 12408074 DOI: 10.1159/000066824 |
0.444 |
|
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