E R Wilcox

Author PubWeight™ 37.83‹?›

Top papers

Rank Title Journal Year PubWeight™‹?›
1 Usher syndrome 1D and nonsyndromic autosomal recessive deafness DFNB12 are caused by allelic mutations of the novel cadherin-like gene CDH23. Am J Hum Genet 2000 3.48
2 Mutations of the protocadherin gene PCDH15 cause Usher syndrome type 1F. Am J Hum Genet 2001 3.42
3 Association of unconventional myosin MYO15 mutations with human nonsyndromic deafness DFNB3. Science 1998 3.00
4 Origins and frequencies of SLC26A4 (PDS) mutations in east and south Asians: global implications for the epidemiology of deafness. J Med Genet 2003 2.52
5 A mutation in PDS causes non-syndromic recessive deafness. Nat Genet 1998 1.79
6 The molecular genetics of Usher syndrome. Clin Genet 2003 1.68
7 Novel mutations of MYO15A associated with profound deafness in consanguineous families and moderately severe hearing loss in a patient with Smith-Magenis syndrome. Hum Genet 2001 1.66
8 OTOF encodes multiple long and short isoforms: genetic evidence that the long ones underlie recessive deafness DFNB9. Am J Hum Genet 2000 1.52
9 Mutations of ESPN cause autosomal recessive deafness and vestibular dysfunction. J Med Genet 2004 1.48
10 Dominant modifier DFNM1 suppresses recessive deafness DFNB26. Nat Genet 2000 1.22
11 Novel mutations of TMPRSS3 in four DFNB8/B10 families segregating congenital autosomal recessive deafness. J Med Genet 2001 1.17
12 An autosomal recessive nonsyndromic form of sensorineural hearing loss maps to 3p-DFNB6. Genome Res 1995 1.09
13 Correlation between Waardenburg syndrome phenotype and genotype in a population of individuals with identified PAX3 mutations. Hum Genet 1998 1.02
14 A gene for recessive nonsyndromic sensorineural deafness (DFNB18) maps to the chromosomal region 11p14-p15.1 containing the Usher syndrome type 1C gene. Genomics 1998 1.02
15 Distinctive audiometric profile associated with DFNB21 alleles of TECTA. J Med Genet 2003 0.96
16 Some aspects of the mechanism of complexation of red kidney bean alpha-amylase inhibitor and alpha-amylase. Biochemistry 1984 0.96
17 Further elucidation of the genomic structure of PAX3, and identification of two different point mutations within the PAX3 homeobox that cause Waardenburg syndrome type 1 in two families. Am J Hum Genet 1995 0.95
18 A new nonsyndromic X-linked sensorineural hearing impairment linked to Xp21.2. Am J Hum Genet 1994 0.95
19 A gene for autosomal dominant late-onset progressive non-syndromic hearing loss, DFNA10, maps to chromosome 6. Hum Mol Genet 1996 0.94
20 A new locus for nonsyndromic hereditary hearing impairment, DFNA17, maps to chromosome 22 and represents a gene for cochleosaccular degeneration. Am J Hum Genet 1999 0.92
21 Epidemiology of Van der Woude syndrome from mutational analyses in affected patients from Pakistan. Clin Genet 2010 0.89
22 A five-generation family with late-onset progressive hereditary hearing impairment due to cochleosaccular degeneration. Audiol Neurootol 1998 0.85
23 Genetic mapping refines DFNB3 to 17p11.2, suggests multiple alleles of DFNB3, and supports homology to the mouse model shaker-2. Am J Hum Genet 1998 0.83
24 A PAX3 polymorphism (T315K) in a family exhibiting Waardenburg Syndrome type 2. Mol Cell Probes 1998 0.83
25 Novel lip pit phenotypes and mutations of IRF6 in Van der Woude syndrome patients from Pakistan. Clin Genet 2013 0.83
26 DFNB3 families and Shaker-2 mice: mutations in an unconventional myosin, myo 15. Adv Otorhinolaryngol 2000 0.81
27 A novel and simple methodology to generate subtracted cDNA libraries. Nucleic Acids Res 1995 0.81
28 A novel zinc finger gene preferentially expressed in the retina and the organ of Corti localizes to human chromosome 12q24.3. Biochim Biophys Acta 1996 0.81
29 Characterization of autosomal dominant non-syndromic hearing loss loci: DFNA 4, 6, 10 and 13. Adv Otorhinolaryngol 2000 0.75
30 Genotype-phenotype correlations in type 1 Waardenburg syndrome. Laryngoscope 1996 0.75
31 A splice-site mutation affecting the paired box of PAX3 in a three generation family with Waardenburg syndrome type I (WS1). Mol Cell Probes 1997 0.75