| Rank |
Title |
Journal |
Year |
PubWeight™‹?› |
|
1
|
Dominant and recessive deafness caused by mutations of a novel gene, TMC1, required for cochlear hair-cell function.
|
Nat Genet
|
2002
|
3.10
|
|
2
|
The tip-link antigen, a protein associated with the transduction complex of sensory hair cells, is protocadherin-15.
|
J Neurosci
|
2006
|
2.41
|
|
3
|
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
|
|
4
|
Beethoven, a mouse model for dominant, progressive hearing loss DFNA36.
|
Nat Genet
|
2002
|
2.31
|
|
5
|
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
|
|
6
|
Nonsyndromic recessive deafness DFNB18 and Usher syndrome type IC are allelic mutations of USHIC.
|
Hum Genet
|
2002
|
1.62
|
|
7
|
Mutations of MYO6 are associated with recessive deafness, DFNB37.
|
Am J Hum Genet
|
2003
|
1.51
|
|
8
|
Mutations in a novel gene, TMIE, are associated with hearing loss linked to the DFNB6 locus.
|
Am J Hum Genet
|
2002
|
1.37
|
|
9
|
Mutation spectrum of MYO7A and evaluation of a novel nonsyndromic deafness DFNB2 allele with residual function.
|
Hum Mutat
|
2008
|
1.27
|
|
10
|
Noncoding mutations of HGF are associated with nonsyndromic hearing loss, DFNB39.
|
Am J Hum Genet
|
2009
|
1.21
|
|
11
|
Mutations in TRIOBP, which encodes a putative cytoskeletal-organizing protein, are associated with nonsyndromic recessive deafness.
|
Am J Hum Genet
|
2005
|
1.10
|
|
12
|
Targeted amplicon sequencing (TAS): a scalable next-gen approach to multilocus, multitaxa phylogenetics.
|
Genome Biol Evol
|
2011
|
1.10
|
|
13
|
A new locus for nonsyndromic deafness DFNB49 maps to chromosome 5q12.3-q14.1.
|
Hum Genet
|
2004
|
0.99
|
|
14
|
Characterization of a new full length TMPRSS3 isoform and identification of mutant alleles responsible for nonsyndromic recessive deafness in Newfoundland and Pakistan.
|
BMC Med Genet
|
2004
|
0.98
|
|
15
|
Profound, prelingual nonsyndromic deafness maps to chromosome 10q21 and is caused by a novel missense mutation in the Usher syndrome type IF gene PCDH15.
|
Eur J Hum Genet
|
2008
|
0.95
|
|
16
|
DFNB48, a new nonsyndromic recessive deafness locus, maps to chromosome 15q23-q25.1.
|
Hum Genet
|
2005
|
0.89
|
|
17
|
DFNB3, spectrum of MYO15A recessive mutant alleles and an emerging genotype-phenotype correlation.
|
Adv Otorhinolaryngol
|
2002
|
0.87
|
|
18
|
Clinical manifestations of DFNB29 deafness.
|
Adv Otorhinolaryngol
|
2002
|
0.84
|
|
19
|
Clinical presentation of DFNB12 and Usher syndrome type 1D.
|
Adv Otorhinolaryngol
|
2002
|
0.83
|
|
20
|
Recent advances in the understanding of syndromic forms of hearing loss.
|
Ear Hear
|
2003
|
0.80
|
|
21
|
Genetic modifiers of hereditary hearing loss.
|
Adv Otorhinolaryngol
|
2002
|
0.77
|