PubRank

Inna A Belyantseva

Author PubWeight™ 45.16‹?›

Top papers

Rank Title Journal Year PubWeight™‹?›
1 Targeted capture and next-generation sequencing identifies C9orf75, encoding taperin, as the mutated gene in nonsyndromic deafness DFNB79. Am J Hum Genet 2010 2.95
2 Alterations of the CIB2 calcium- and integrin-binding protein cause Usher syndrome type 1J and nonsyndromic deafness DFNB48. Nat Genet 2012 2.43
3 The tip-link antigen, a protein associated with the transduction complex of sensory hair cells, is protocadherin-15. J Neurosci 2006 2.41
4 Claudin 14 knockout mice, a model for autosomal recessive deafness DFNB29, are deaf due to cochlear hair cell degeneration. Hum Mol Genet 2003 2.36
5 Rapid renewal of auditory hair bundles. Nature 2002 2.28
6 PCDH15 is expressed in the neurosensory epithelium of the eye and ear and mutant alleles are responsible for both USH1F and DFNB23. Hum Mol Genet 2003 2.14
7 Genetic insights into the morphogenesis of inner ear hair cells. Nat Rev Genet 2004 2.11
8 Tricellulin is a tight-junction protein necessary for hearing. Am J Hum Genet 2006 2.05
9 Mutations in Mcoln3 associated with deafness and pigmentation defects in varitint-waddler (Va) mice. Proc Natl Acad Sci U S A 2002 2.03
10 Actin-bundling protein TRIOBP forms resilient rootlets of hair cell stereocilia essential for hearing. Cell 2010 1.94
11 Spatiotemporal pattern and isoforms of cadherin 23 in wild type and waltzer mice during inner ear hair cell development. Dev Biol 2005 1.82
12 Mutations of LRTOMT, a fusion gene with alternative reading frames, cause nonsyndromic deafness in humans. Nat Genet 2008 1.78
13 Molecular remodeling of tip links underlies mechanosensory regeneration in auditory hair cells. PLoS Biol 2013 1.77
14 Deafness and stria vascularis defects in S1P2 receptor-null mice. J Biol Chem 2007 1.66
15 Localization and functional studies of pendrin in the mouse inner ear provide insight about the etiology of deafness in pendred syndrome. J Assoc Res Otolaryngol 2003 1.27
16 Mutation spectrum of MYO7A and evaluation of a novel nonsyndromic deafness DFNB2 allele with residual function. Hum Mutat 2008 1.27
17 Twinfilin 2 regulates actin filament lengths in cochlear stereocilia. J Neurosci 2009 1.26
18 Expression of prestin, a membrane motor protein, in the mammalian auditory and vestibular periphery. Hear Res 2003 1.24
19 Functional null mutations of MSRB3 encoding methionine sulfoxide reductase are associated with human deafness DFNB74. Am J Hum Genet 2010 1.18
20 Auditory mechanotransduction in the absence of functional myosin-XVa. J Physiol 2006 1.17
21 Molecular basis of DFNB73: mutations of BSND can cause nonsyndromic deafness or Bartter syndrome. Am J Hum Genet 2009 1.15
22 Signatures from tissue-specific MPSS libraries identify transcripts preferentially expressed in the mouse inner ear. Genomics 2006 1.13
23 Tricellulin deficiency affects tight junction architecture and cochlear hair cells. J Clin Invest 2013 1.09
24 Actin in hair cells and hearing loss. Hear Res 2011 0.95
25 Mutations in Grxcr1 are the basis for inner ear dysfunction in the pirouette mouse. Am J Hum Genet 2010 0.90
26 A null mutation of mouse Kcna10 causes significant vestibular and mild hearing dysfunction. Hear Res 2013 0.88
27 Gene expression profile of the mouse organ of Corti at the onset of hearing. Genomics 2004 0.88
28 Phenotypic variability of CLDN14 mutations causing DFNB29 hearing loss in the Pakistani population. J Hum Genet 2012 0.80
29 Recent advances in the understanding of syndromic forms of hearing loss. Ear Hear 2003 0.80