Elucidation of the unique mutation spectrum of severe hearing loss in a Vietnamese pediatric population

[1]  anonymous,et al.  Comprehensive review , 2019 .

[2]  T. Casavant,et al.  Genomic Landscape and Mutational Signatures of Deafness-Associated Genes , 2018, American journal of human genetics.

[3]  W. Park,et al.  Expansion of phenotypic spectrum of MYO15A pathogenic variants to include postlingual onset of progressive partial deafness , 2018, BMC Medical Genetics.

[4]  A. Salas,et al.  Phylogeographic and genome-wide investigations of Vietnam ethnic groups reveal signatures of complex historical demographic movements , 2017, Scientific Reports.

[5]  Haibo Wang,et al.  Prevalence of Mutations in Deafness‐Causing Genes in Cochlear Implanted Patients with Profound Nonsyndromic Sensorineural Hearing Loss in Shandong Province, China , 2017, Annals of human genetics.

[6]  F. Zarei,et al.  An update of common autosomal recessive non-syndromic hearing loss genes in Iranian population. , 2017, International journal of pediatric otorhinolaryngology.

[7]  D. Oh,et al.  Discovery of MYH14 as an important and unique deafness gene causing prelingually severe autosomal dominant nonsyndromic hearing loss , 2017, The journal of gene medicine.

[8]  R. Pfundt,et al.  The diagnostic yield of whole-exome sequencing targeting a gene panel for hearing impairment in The Netherlands , 2016, European Journal of Human Genetics.

[9]  D. Kolbe,et al.  Heterogeneity of Hereditary Hearing Loss in Iran: a Comprehensive Review. , 2016, Archives of Iranian medicine.

[10]  B. Choi,et al.  Establishment of a Flexible Real-Time Polymerase Chain Reaction-Based Platform for Detecting Prevalent Deafness Mutations Associated with Variable Degree of Sensorineural Hearing Loss in Koreans , 2016, PloS one.

[11]  Jason J. Corneveaux,et al.  DNA Diagnostics of Hereditary Hearing Loss: A Targeted Resequencing Approach Combined with a Mutation Classification System , 2016, Human mutation.

[12]  Haibo Wang,et al.  GJB2, SLC26A4, and mitochondrial DNA12S rRNA hot-spots in 156 subjects with non-syndromic hearing loss in Tengzhou, China , 2016, Acta oto-laryngologica.

[13]  W. Park,et al.  Unraveling of Enigmatic Hearing-Impaired GJB2 Single Heterozygotes by Massive Parallel Sequencing: DFNB1 or Not? , 2016, Medicine.

[14]  Amy E. Weaver,et al.  Comprehensive genetic testing in the clinical evaluation of 1119 patients with hearing loss , 2016, Human Genetics.

[15]  Liang Xu,et al.  [Analysis common gene mutation spots of 127 non-syndromic deafness natients in Guangxi Drovince]. , 2015, Lin chuang er bi yan hou tou jing wai ke za zhi = Journal of clinical otorhinolaryngology, head, and neck surgery.

[16]  W. Park,et al.  Strong founder effect of p.P240L in CDH23 in Koreans and its significant contribution to severe-to-profound nonsyndromic hearing loss in a Korean pediatric population , 2015, Journal of Translational Medicine.

[17]  Xiufeng Xu,et al.  Mutation Spectrum of Common Deafness-Causing Genes in Patients with Non-Syndromic Deafness in the Xiamen Area, China , 2015, PloS one.

[18]  Richard J. H. Smith,et al.  Massively Parallel Sequencing for Genetic Diagnosis of Hearing Loss , 2015, Otolaryngology--head and neck surgery : official journal of American Academy of Otolaryngology-Head and Neck Surgery.

[19]  Guo-jian Wang,et al.  The Relationship between the p.V37I Mutation in GJB2 and Hearing Phenotypes in Chinese Individuals , 2015, PloS one.

[20]  B. Choi,et al.  Residual Hearing in DFNB1 Deafness and Its Clinical Implication in a Korean Population , 2015, PloS one.

[21]  Yan-Li Wang,et al.  Common molecular etiology of nonsyndromic hearing loss in 484 patients of 3 ethnicities in northwest China , 2015, Acta oto-laryngologica.

[22]  Y. Chen,et al.  The homozygous p.V37I variant of GJB2 is associated with diverse hearing phenotypes , 2015, Clinical genetics.

[23]  Bale,et al.  Standards and Guidelines for the Interpretation of Sequence Variants: A Joint Consensus Recommendation of the American College of Medical Genetics and Genomics and the Association for Molecular Pathology , 2015, Genetics in Medicine.

[24]  W. Park,et al.  Whole-exome sequencing reveals diverse modes of inheritance in sporadic mild to moderate sensorineural hearing loss in a pediatric population , 2015, Genetics in Medicine.

[25]  W. Park,et al.  Exploration of molecular genetic etiology for Korean cochlear implantees with severe to profound hearing loss and its implication , 2014, Orphanet Journal of Rare Diseases.

[26]  Thomas L Casavant,et al.  Utilizing ethnic-specific differences in minor allele frequency to recategorize reported pathogenic deafness variants. , 2014, American journal of human genetics.

[27]  Bei-bei Yang,et al.  Prevalence and range of GJB2 and SLC26A4 mutations in patients with autosomal recessive non‑syndromic hearing loss. , 2014, Molecular medicine reports.

[28]  Christina M. Sloan,et al.  Copy number variants are a common cause of non-syndromic hearing loss , 2014, Genome Medicine.

[29]  D. Chan,et al.  GJB2‐associated hearing loss: Systematic review of worldwide prevalence, genotype, and auditory phenotype , 2014, The Laryngoscope.

[30]  F. Moreno,et al.  A Novel Splice-Site Mutation in the GJB2 Gene Causing Mild Postlingual Hearing Impairment , 2013, PloS one.

[31]  W. Park,et al.  Diagnostic Application of Targeted Resequencing for Familial Nonsyndromic Hearing Loss , 2013, PloS one.

[32]  W. Park,et al.  Prevalence of p.V37I Variant of GJB2 in Mild or Moderate Hearing Loss in a Pediatric Population and the Interpretation of Its Pathogenicity , 2013, PloS one.

[33]  Toshikazu Yamaguchi,et al.  Simultaneous Screening of Multiple Mutations by Invader Assay Improves Molecular Diagnosis of Hereditary Hearing Loss: A Multicenter Study , 2012, PloS one.

[34]  L. Hickson,et al.  Prognostic indicators in paediatric cochlear implant surgery: a systematic literature review , 2011, Cochlear implants international.

[35]  M. Ramsay,et al.  Absence of GJB2 gene mutations, the GJB6 deletion (GJB6-D13S1830) and four common mitochondrial mutations in nonsyndromic genetic hearing loss in a South African population. , 2011, International journal of pediatric otorhinolaryngology.

[36]  S. Nishio,et al.  A large cohort study of GJB2 mutations in Japanese hearing loss patients , 2010, Clinical genetics.

[37]  A. Pandya,et al.  A novel DFNB1 deletion allele supports the existence of a distant cis‐regulatory region that controls GJB2 and GJB6 expression , 2010, Clinical genetics.

[38]  Y. You,et al.  Comprehensive molecular etiology analysis of nonsyndromic hearing impairment from typical areas in China , 2009, Journal of Translational Medicine.

[39]  F. Denoyelle,et al.  A new large deletion in the DFNB1 locus causes nonsyndromic hearing loss. , 2009, European journal of medical genetics.

[40]  S. Riazuddin,et al.  SLC26A4 mutation spectrum associated with DFNB4 deafness and Pendred's syndrome in Pakistanis , 2009, Journal of Human Genetics.

[41]  B. Wu,et al.  GJB2 mutation spectrum in 2063 Chinese patients with nonsyndromic hearing impairment , 2009, Journal of Translational Medicine.

[42]  Rick Kittles,et al.  Hypo‐Functional SLC26A4 variants associated with nonsyndromic hearing loss and enlargement of the vestibular aqueduct: Genotype‐phenotype correlation or coincidental polymorphisms? , 2009, Human mutation.

[43]  Shelly Chadha,et al.  Functional consequences of novel connexin 26 mutations associated with hereditary hearing loss , 2009, European Journal of Human Genetics.

[44]  S. Riazuddin,et al.  Identities and frequencies of mutations of the otoferlin gene (OTOF) causing DFNB9 deafness in Pakistan , 2009, Clinical genetics.

[45]  Hong-Joon Park,et al.  Carrier frequency of GJB2 (connexin-26) mutations causing inherited deafness in the Korean population , 2008, Journal of Human Genetics.

[46]  Chuan-Jen Hsu,et al.  Predominance of genetic diagnosis and imaging results as predictors in determining the speech perception performance outcome after cochlear implantation in children. , 2008, Archives of pediatrics & adolescent medicine.

[47]  R. Płoski,et al.  M34T and V37I mutations in GJB2 associated hearing impairment: Evidence for pathogenicity and reduced penetrance , 2007, American journal of medical genetics. Part A.

[48]  D. Jagger,et al.  A novel hearing loss-related mutation occurring in the GJB2 basal promoter , 2007, Journal of Medical Genetics.

[49]  M. Tekin,et al.  The c.IVS1+1G>A mutation intheGJB2 gene is prevalent and large deletions involving theGJB6 gene are not present in the Turkish population , 2006, Journal of Genetics.

[50]  S. Langlois,et al.  V37I connexin 26 allele in patients with sensorineural hearing loss: Evidence of its pathogenicity , 2006, American journal of medical genetics. Part A.

[51]  C. Morton,et al.  Newborn hearing screening--a silent revolution. , 2006, The New England journal of medicine.

[52]  A. Pandya,et al.  A novel deletion involving the connexin-30 gene, del(GJB6-d13s1854), found in trans with mutations in the GJB2 gene (connexin-26) in subjects with DFNB1 non-syndromic hearing impairment , 2005, Journal of Medical Genetics.

[53]  P. Duggal,et al.  High prevalence of V37I genetic variant in the connexin‐26 (GJB2) gene among non‐syndromic hearing‐impaired and control Thai individuals , 2004, Clinical genetics.

[54]  H. Rehm.  Molecular Diagnosis of Hearing Loss , 2004, Current protocols in human genetics.

[55]  K. White.  Early hearing detection and intervention programs: Opportunities for genetic services , 2004, American journal of medical genetics. Part A.

[56]  C. Meyer,et al.  Low frequency of deafness‐associated GJB2 variants in Kenya and Sudan and novel GJB2 variants , 2004, Human mutation.

[57]  Y. Matsubara,et al.  GJB2 (Connexin 26) Mutations and Childhood Deafness in Thailand , 2001, Otology & neurotology : official publication of the American Otological Society, American Neurotology Society [and] European Academy of Otology and Neurotology.

[58]  R. Williamson,et al.  Prevalence and nature of connexin 26 mutations in children with non-syndromic deafness. , 2001, The Medical journal of Australia.

[59]  R. Williamson,et al.  Prevalence and nature of connexin 26 mutations in children with non‐syndromic deafness , 2001 .

[60]  C. Petit,et al.  Determination of the frequency of connexin 26 mutations in inherited sensorineural deafness and carrier rates in the Tunisian population using DGGE , 2000 .

[61]  Steve D. M. Brown,et al.  Autosomal dominant non-syndromic deafness caused by a mutation in the myosin VIIA gene , 1997, Nature Genetics.

[62]  C. Petit,et al.  Prelingual deafness: high prevalence of a 30delG mutation in the connexin 26 gene. , 1997, Human molecular genetics.

[63]  Steve D. M. Brown,et al.  Mutations in the myosin VIIA gene cause non-syndromic recessive deafness , 1997, Nature Genetics.

[64]  Steve D. M. Brown,et al.  Defective myosin VIIA gene responsible for Usher syndrome type IB , 1995, Nature.

[65]  C. Murray.  New Standard of Care. , 2011 .

[66]  Teresa Foo,et al.  : SYSTEMATIC LITERATURE REVIEW , 2004 .

[67]  K. Avraham,et al.  The prevalence and expression of inherited connexin 26 mutations associated with nonsyndromic hearing loss in the Israeli population , 1999, Human Genetics.