Associated Papers
Comprehensive analysis of coding variants highlights genetic complexity in developmental and epileptic encephalopathy.
Takata A et al.
Nature Communications, 2019
Systematic evaluation of gene variants linked to hearing loss based on allele frequency threshold and filtering allele frequency.
Rim JH et al.
Scientific Reports, 2019
Genomic Landscape and Mutational Signatures of Deafness-Associated Genes.
Azaiez H et al.
American Journal of Human Genetics, 2018
Molecular study of patients with auditory neuropathy.
Carvalho GM et al.
Molecular Medicine Reports, 2016
Identification of a novel splice site variant of OTOF in the Korean nonsyndromic hearing loss population with low prevalence of the OTOF mutations.
Jin YJ et al.
International Journal of Pediatric Otorhinolaryngology, 2014
OTOF mutation screening in Japanese severe to profound recessive hearing loss patients.
Iwasa Y et al.
Bmc Medical Genetics, 2013
Performance evaluation of the next-generation sequencing approach for molecular diagnosis of hereditary hearing loss.
Sivakumaran TA et al.
Otolaryngology--head and Neck Surgery : Official Journal of American Academy of Otolaryngology-head and Neck Surgery, 2013
A prevalent founder mutation and genotype-phenotype correlations of OTOF in Japanese patients with auditory neuropathy.
Matsunaga T et al.
Clinical Genetics, 2012
Variants of OTOF and PJVK genes in Chinese patients with auditory neuropathy spectrum disorder.
Wang J et al.
Plos One, 2011
Screening mutations of OTOF gene in Chinese patients with auditory neuropathy, including a familial case of temperature-sensitive auditory neuropathy.
Wang DY et al.
Bmc Medical Genetics, 2010
[Analyzing GRIA3 gene mutations located in AUNX1 locus in a Chinese pedigree with auditory neuropathy].
Liu Q et al.
Xi Bao Yu Fen Zi Mian Yi Xue Za Zhi = Chinese Journal of Cellular and Molecular Immunology, 2010
High-throughput detection of mutations responsible for childhood hearing loss using resequencing microarrays.
Kothiyal P et al.
Bmc Biotechnology, 2010
Novel OTOF mutations in Brazilian patients with auditory neuropathy.
Romanos J et al.
Journal of Human Genetics, 2009
A multicenter study on the prevalence and spectrum of mutations in the otoferlin gene (OTOF) in subjects with nonsyndromic hearing impairment and auditory neuropathy.
Rodríguez-Ballesteros M et al.
Human Mutation, 2008
In silico functional and structural characterisation of ferlin proteins by mapping disease-causing mutations and evolutionary information onto three-dimensional models of their C2 domains.
Jiménez JL et al.
Journal of the Neurological Sciences, 2007
OTOF mutations revealed by genetic analysis of hearing loss families including a potential temperature sensitive auditory neuropathy allele.
Varga R et al.
Journal of Medical Genetics, 2006