Published in Gene Ther on March 17, 2015
Methionine Sulfoxide Reductase B3-Targeted In Utero Gene Therapy Rescues Hearing Function in a Mouse Model of Congenital Sensorineural Hearing Loss. Antioxid Redox Signal (2016) 0.77
Genetic hearing loss: the journey of discovery to destination - how close are we to therapy? Mol Genet Genomic Med (2016) 0.75
Emerging Gene Therapies for Genetic Hearing Loss. J Assoc Res Otolaryngol (2017) 0.75
Newborn hearing screening--a silent revolution. N Engl J Med (2006) 6.75
Pendred syndrome is caused by mutations in a putative sulphate transporter gene (PDS). Nat Genet (1997) 4.43
Sensorineural hearing loss in children. Lancet (2005) 4.05
A deletion involving the connexin 30 gene in nonsyndromic hearing impairment. N Engl J Med (2002) 4.00
Myosin VIIa, harmonin and cadherin 23, three Usher I gene products that cooperate to shape the sensory hair cell bundle. EMBO J (2002) 3.53
Sensorineural deafness and seizures in mice lacking vesicular glutamate transporter 3. Neuron (2008) 2.96
Nonsyndromic hearing impairment: unparalleled heterogeneity. Am J Hum Genet (1997) 2.82
Development of the mouse inner ear and origin of its sensory organs. J Neurosci (1998) 2.81
Regulation of cell fate in the sensory epithelia of the inner ear. Nat Rev Neurosci (2006) 2.77
Targeted ablation of connexin26 in the inner ear epithelial gap junction network causes hearing impairment and cell death. Curr Biol (2002) 2.72
GJB2 (connexin 26) variants and nonsyndromic sensorineural hearing loss: a HuGE review. Genet Med (2002) 2.49
An antisense oligonucleotide against SOD1 delivered intrathecally for patients with SOD1 familial amyotrophic lateral sclerosis: a phase 1, randomised, first-in-man study. Lancet Neurol (2013) 2.43
The Pendred syndrome gene encodes a chloride-iodide transport protein. Nat Genet (1999) 2.32
Vertebrate cranial placodes I. Embryonic induction. Dev Biol (2001) 2.22
Connexin30 (Gjb6)-deficiency causes severe hearing impairment and lack of endocochlear potential. Hum Mol Genet (2003) 2.17
Pendrin: an apical Cl-/OH-/HCO3- exchanger in the kidney cortex. Am J Physiol Renal Physiol (2001) 2.08
Restoration of hearing in the VGLUT3 knockout mouse using virally mediated gene therapy. Neuron (2012) 2.00
Prevalence and evolutionary origins of the del(GJB6-D13S1830) mutation in the DFNB1 locus in hearing-impaired subjects: a multicenter study. Am J Hum Genet (2003) 1.79
Hearing loss and retarded cochlear development in mice lacking type 2 iodothyronine deiodinase. Proc Natl Acad Sci U S A (2004) 1.68
Cochlear gap junctions coassembled from Cx26 and 30 show faster intercellular Ca2+ signaling than homomeric counterparts. Am J Physiol Cell Physiol (2005) 1.49
Development of the vertebrate ear: insights from knockouts and mutants. Trends Neurosci (1999) 1.25
Rescue of hearing and vestibular function by antisense oligonucleotides in a mouse model of human deafness. Nat Med (2013) 1.20
Sensory organ development in the inner ear: molecular and cellular mechanisms. Br Med Bull (2002) 1.13
Phase I clinical trial of Smad7 knockdown using antisense oligonucleotide in patients with active Crohn's disease. Mol Ther (2012) 1.13
Epithelial cell stretching and luminal acidification lead to a retarded development of stria vascularis and deafness in mice lacking pendrin. PLoS One (2011) 1.12
Kinetics of SRY gene appearance in maternal serum: detection by real time PCR in early pregnancy after assisted reproductive technique. Hum Reprod (2003) 1.10
Mechanoelectric transduction of adult inner hair cells. J Neurosci (2007) 1.09
Specific and efficient transduction of Cochlear inner hair cells with recombinant adeno-associated virus type 3 vector. Mol Ther (2005) 1.07
Mouse model of enlarged vestibular aqueducts defines temporal requirement of Slc26a4 expression for hearing acquisition. J Clin Invest (2011) 1.07
Hereditary non-syndromic sensorineural hearing loss: transforming silence to sound. J Mol Diagn (2004) 1.02
Mitochondrial ribosomal proteins: candidate genes for mitochondrial disease. Genet Med (2004) 1.00
Virally expressed connexin26 restores gap junction function in the cochlea of conditional Gjb2 knockout mice. Gene Ther (2013) 0.99
Genetics Evaluation Guidelines for the Etiologic Diagnosis of Congenital Hearing Loss. Genetic Evaluation of Congenital Hearing Loss Expert Panel. ACMG statement. Genet Med (2002) 0.98
Gene therapy for the inner ear. Hear Res (2012) 0.93
SLC26A4 targeted to the endolymphatic sac rescues hearing and balance in Slc26a4 mutant mice. PLoS Genet (2013) 0.92
Development of the ear and hearing. J Perinatol (2000) 0.91
Medical evaluation of pediatric hearing loss. Laboratory, radiographic, and genetic testing. Otolaryngol Clin North Am (2002) 0.91
SLC26A4 genotypes and phenotypes associated with enlargement of the vestibular aqueduct. Cell Physiol Biochem (2011) 0.87
Genetic testing for hearing loss in the United States should include deletion/duplication analysis for the deafness/infertility locus at 15q15.3. Mol Cytogenet (2013) 0.87
Immunolocalization of connexin 26 in the developing mouse cochlea. Brain Res Brain Res Rev (2000) 0.87
A novel missense mutation in the connexin30 causes nonsyndromic hearing loss. PLoS One (2011) 0.86
Mouse otocyst transuterine gene transfer restores hearing in mice with connexin 30 deletion-associated hearing loss. Mol Ther (2013) 0.83
Non-invasive prenatal testing using massively parallel sequencing of maternal plasma DNA: from molecular karyotyping to fetal whole-genome sequencing. Reprod Biomed Online (2013) 0.83
Molecular mechanism of a frequent genetic form of deafness. N Engl J Med (2003) 0.80
Spectrum and frequency of GJB2 mutations in a cohort of 264 Portuguese nonsyndromic sensorineural hearing loss patients. Int J Audiol (2013) 0.77
Strategies for replacing lost cochlear hair cells. Neuroreport (2004) 0.77