Lista de obras -

A 1.6-Mb microdeletion in chromosome 17q22 leads to NOG-related symphalangism spectrum disorder without intellectual disability

artículo científico publicado en 2015

A 7666-bp genomic deletion is frequent in Chinese Han deaf patients with non-syndromic enlarged vestibular aqueduct but without bi-allelic SLC26A4 mutations

artículo científico publicado en 2015

A Novel Missense Mutation of NOG Interferes With the Dimerization of NOG and Causes Proximal Symphalangism Syndrome in a Chinese Family

artículo científico publicado en 2015

A Novel p.G141R Mutation in ILDR1 Leads to Recessive Nonsyndromic Deafness DFNB42 in Two Chinese Han Families.

artículo científico publicado en 2018

A common variant in <i>AAK1</i> reduces risk of noise-induced hearing loss

scientific article published in 2023

A dominant mutation in the stereocilia-expressing gene TBC1D24 is a probable cause for nonsyndromic hearing impairment

artículo científico publicado en 2014

A dominant variant in DMXL2 is linked to nonsyndromic hearing loss.

artículo científico publicado en 2016

A homozygous MITF mutation leads to familial Waardenburg syndrome type 4

artículo científico publicado en 2018

A novel splice site mutation in DFNA5 causes late-onset progressive non-syndromic hearing loss in a Chinese family

artículo científico publicado en 2014

A novel splice site mutation in EYA4 causes DFNA10 hearing loss.

artículo científico publicado en 2007

Advances in basic and clinical research on deafness genes in China

artículo científico publicado en 2013

Analysis on correlation between GJB2 mutations and congenital malformations of inner ear

artículo científico publicado en 2013

Association of GRM7 variants with different phenotype patterns of age-related hearing impairment in an elderly male Han Chinese population

artículo científico publicado en 2013

Association of leukocyte telomere length and the risk of age-related hearing impairment in Chinese Hans

artículo científico publicado en 2017

Attitudes toward carrier screening and prenatal diagnosis for recessive hereditary deafness among the educated population in urban China

artículo científico publicado en 2016

Biallelic p.V37I variant in GJB2 is associated with increasing incidence of hearing loss with age

artículo científico publicado en 2022

Carcinoembryonic antigen-related cell adhesion molecule 16 interacts with alpha-tectorin and is mutated in autosomal dominant hearing loss (DFNA4).

artículo científico publicado en 2011

Carrier re-sequencing reveals rare but benign variants in recessive deafness genes

artículo científico publicado en 2017

Characterization of a knock-in mouse model of the homozygous p.V37I variant in Gjb2.

artículo científico publicado en 2016

Characterization of spectrum, de novo rate and genotype-phenotype correlation of dominant GJB2 mutations in Chinese hans

artículo científico publicado en 2014

Clinical characterization of a novel COCH mutation G87V in a Chinese DFNA9 family

artículo científico publicado en 2013

Compound Heterozygous Mutations in TMC1 and MYO15A Are Associated with Autosomal Recessive Nonsyndromic Hearing Loss in Two Chinese Han Families

scientific article published on 01 August 2020

Diagnosis, Intervention, and Prevention of Genetic Hearing Loss

artículo científico publicado en 2019

Disruption of Hars2 in Cochlear Hair Cells Causes Progressive Mitochondrial Dysfunction and Hearing Loss in Mice

artículo científico publicado en 2021

Double heterozygous mutations of MITF and PAX3 result in Waardenburg syndrome with increased penetrance in pigmentary defects ⬇️

artículo científico publicado el 5 de marzo de 2012

EYA1 mutations leads to Branchio-Oto syndrome in two Chinese Han deaf families

artículo científico publicado en 2019

Editorial: Hearing Loss: Mechanisms and Prevention

artículo científico publicado en 2022

Gene expression profiles between cystic and solid vestibular schwannoma indicate susceptible molecules and pathways in the cystic formation of vestibular schwannoma

artículo científico publicado en 2019

Genetic etiology study of the non-syndromic deafness in Chinese Hans by targeted next-generation sequencing

artículo científico publicado en 2013

Genetic heterogeneity of deafness phenotypes linked to DFNA4

artículo científico publicado en 2005

Genetic research of age-related hearing impairment

artículo científico publicado el 1 de enero de 2013

Genetic screening of a Chinese cohort of children with hearing loss using a next-generation sequencing panel

scientific article published in 2023

Genotype-phenotype correlations for SLC26A4-related deafness.

artículo científico publicado en 2007

Genotype–phenotype correlation of two prevalent GJB2 mutations in chinese newborn infants ascertained from the Universal Newborn Hearing Screening Program ⬇️

artículo científico publicado el 1 de noviembre de 2010

Hearing consequences in Gjb2 knock-in mice: implications for human p.V37I mutation

artículo científico publicado en 2019

Identification of a novel CDH23 gene variant associated with non-syndromic progressive hearing loss in a Chinese family: Individualized hearing rehabilitation guided by genetic diagnosis

artículo científico publicado en 2019

Identification of both MT-RNR1 m.1555A>G and bi-allelic GJB2 mutations in probands with non-syndromic hearing loss

artículo científico publicado en 2014

Identification of novel OTOF compound heterozygous mutations by targeted next-generation sequencing in a Chinese patient with auditory neuropathy spectrum disorder

artículo científico publicado en 2013

Investigation of clinical features and detection of 79 known deafness genes in a large Chinese family with dominant non-syndromic hearing loss

artículo científico publicado en 2014

Machine learning-based genetic diagnosis models for hereditary hearing loss by the GJB2, SLC26A4 and MT-RNR1 variants

scientific article published in 2021

MiR-205 inhibits sporadic vestibular schwannoma cells proliferation by targeting cyclin-dependent kinase 14

artículo científico publicado en 2020

Molecular epidemiology of Chinese Han deaf patients with bi-allelic and mono-allelic GJB2 mutations

artículo científico publicado en 2020

Molecular etiology and genotype-phenotype correlation of Chinese Han deaf patients with type I and type II Waardenburg Syndrome

scientific article published on 19 October 2016

Molecular etiology of hearing impairment associated with nonsyndromic enlarged vestibular aqueduct in East China

scientific article published on 05 August 2013

Molecular etiology of non-dominant, non-syndromic, mild-to-moderate childhood hearing impairment in Chinese Hans

artículo científico publicado en 2014

Mono-allelic mutations of SLC26A4 is over-presented in deaf patients with non-syndromic enlarged vestibular aqueduct

artículo científico publicado en 2015

Mutation analysis of seven consanguineous Uyghur families with non-syndromic deafness

artículo científico publicado en 2014

Mutation in PCDH15 may modify the phenotypic expression of the 7511T>C mutation in MT-TS1 in a Chinese Han family with maternally inherited nonsyndromic hearing loss

artículo científico publicado en 2015

Mutation in the Hair Cell Specific Gene POU4F3 Is a Common Cause for Autosomal Dominant Nonsyndromic Hearing Loss in Chinese Hans

artículo científico publicado en 2016

Mutation spectrum and differential gene expression in cystic and solid vestibular schwannoma

artículo científico publicado en 2013

Mutations in KARS cause early-onset hearing loss and leukoencephalopathy: Potential pathogenic mechanism.

artículo científico publicado en 2017

Mutations of KCNJ10 together with mutations of SLC26A4 cause digenic nonsyndromic hearing loss associated with enlarged vestibular aqueduct syndrome

artículo científico publicado en 2009

NLRP3 Is Expressed in the Spiral Ganglion Neurons and Associated with Both Syndromic and Nonsyndromic Sensorineural Deafness.

artículo científico publicado en 2016

Newborn dried blood-spot screening of the p.V37I variant of GJB2 by high-resolution melting analysis

artículo científico publicado en 2014

Novel mutations in ATP6V0A4 are associated with atypical progressive sensorineural hearing loss in a Chinese patient with distal renal tubular acidosis

artículo científico publicado en 2011

Postnatal Development of Microglia-Like Cells in Mouse Cochlea

scientific article published on 31 July 2018

Screening for delayed-onset hearing loss in preschool children who previously passed the newborn hearing screening

artículo científico publicado en 2011

THOC1 deficiency leads to late-onset nonsyndromic hearing loss through p53-mediated hair cell apoptosis

artículo científico publicado en 2020

Targeted Next-Generation Sequencing Identified Compound Heterozygous Mutations in MYO15A as the Probable Cause of Nonsyndromic Deafness in a Chinese Han Family

artículo científico publicado en 2020

Targeted next-generation sequencing and parental genotyping in sporadic Chinese Han deaf patients.

artículo científico publicado en 2017

Targeted next-generation sequencing in Uyghur families with non-syndromic sensorineural hearing loss

artículo científico publicado en 2015

The European GWAS-identified risk SNP rs457717 within IQGAP2 is not associated with age-related hearing impairment in Han male Chinese population

artículo científico publicado en 2015

The c.-103T>C variant in the 5'-UTR of SLC26A4 gene: a pathogenic mutation or coincidental polymorphism?

artículo científico publicado en 2009

The effect of GJB2 and SLC26A4 gene mutations on rehabilitative outcomes in pediatric cochlear implant patients

artículo científico publicado en 2013

The natural history of OTOF-related auditory neuropathy spectrum disorders: a multicenter study

artículo científico publicado en 2021

The p.R206C Mutation in MYO7A Leads to Autosomal Dominant Nonsyndromic Hearing Loss

scientific article published on 19 May 2020

The p.V37I Exclusive Genotype Of GJB2: A Genetic Risk-Indicator of Postnatal Permanent Childhood Hearing Impairment ⬇️

artículo científico publicado el 4 de mayo de 2012

The role of Efr3a in age-related hearing loss

artículo científico publicado en 2016

The role of NF2 gene mutations and pathogenesis-related proteins in sporadic vestibular schwannomas in young individuals

artículo científico publicado en 2014

Transcriptional control of SLC26A4 is involved in Pendred syndrome and nonsyndromic enlargement of vestibular aqueduct (DFNB4)

artículo científico publicado en 2007

Utilizing ethnic-specific differences in minor allele frequency to recategorize reported pathogenic deafness variants.

artículo científico publicado en 2014

Whole-exome sequencing identifies rare pathogenic and candidate variants in sporadic Chinese Han deaf patients

scientific article published on 10 September 2019

[Clinical practice guidelines for hereditary non-syndromic deafness]

artículo científico publicado en 2020

[Prenatal screening and diagnosis of genetic deafness by microarray]

artículo científico publicado en 2012

Lista de obras de

A 1.6-Mb microdeletion in chromosome 17q22 leads to NOG-related symphalangism spectrum disorder without intellectual disability

A 7666-bp genomic deletion is frequent in Chinese Han deaf patients with non-syndromic enlarged vestibular aqueduct but without bi-allelic SLC26A4 mutations

A Novel Missense Mutation of NOG Interferes With the Dimerization of NOG and Causes Proximal Symphalangism Syndrome in a Chinese Family

A Novel p.G141R Mutation in ILDR1 Leads to Recessive Nonsyndromic Deafness DFNB42 in Two Chinese Han Families.

A common variant in <i>AAK1</i> reduces risk of noise-induced hearing loss

A dominant mutation in the stereocilia-expressing gene TBC1D24 is a probable cause for nonsyndromic hearing impairment

A dominant variant in DMXL2 is linked to nonsyndromic hearing loss.

A homozygous MITF mutation leads to familial Waardenburg syndrome type 4

A novel splice site mutation in DFNA5 causes late-onset progressive non-syndromic hearing loss in a Chinese family

A novel splice site mutation in EYA4 causes DFNA10 hearing loss.

Advances in basic and clinical research on deafness genes in China

Analysis on correlation between GJB2 mutations and congenital malformations of inner ear

Association of GRM7 variants with different phenotype patterns of age-related hearing impairment in an elderly male Han Chinese population

Association of leukocyte telomere length and the risk of age-related hearing impairment in Chinese Hans

Attitudes toward carrier screening and prenatal diagnosis for recessive hereditary deafness among the educated population in urban China

Biallelic p.V37I variant in GJB2 is associated with increasing incidence of hearing loss with age

Carcinoembryonic antigen-related cell adhesion molecule 16 interacts with alpha-tectorin and is mutated in autosomal dominant hearing loss (DFNA4).

Carrier re-sequencing reveals rare but benign variants in recessive deafness genes

Characterization of a knock-in mouse model of the homozygous p.V37I variant in Gjb2.

Characterization of spectrum, de novo rate and genotype-phenotype correlation of dominant GJB2 mutations in Chinese hans

Clinical characterization of a novel COCH mutation G87V in a Chinese DFNA9 family

Compound Heterozygous Mutations in TMC1 and MYO15A Are Associated with Autosomal Recessive Nonsyndromic Hearing Loss in Two Chinese Han Families

Diagnosis, Intervention, and Prevention of Genetic Hearing Loss

Disruption of Hars2 in Cochlear Hair Cells Causes Progressive Mitochondrial Dysfunction and Hearing Loss in Mice

Double heterozygous mutations of MITF and PAX3 result in Waardenburg syndrome with increased penetrance in pigmentary defects ⬇️

EYA1 mutations leads to Branchio-Oto syndrome in two Chinese Han deaf families

Editorial: Hearing Loss: Mechanisms and Prevention

Gene expression profiles between cystic and solid vestibular schwannoma indicate susceptible molecules and pathways in the cystic formation of vestibular schwannoma

Genetic etiology study of the non-syndromic deafness in Chinese Hans by targeted next-generation sequencing

Genetic heterogeneity of deafness phenotypes linked to DFNA4

Genetic research of age-related hearing impairment

Genetic screening of a Chinese cohort of children with hearing loss using a next-generation sequencing panel

Genotype-phenotype correlations for SLC26A4-related deafness.

Genotype–phenotype correlation of two prevalent GJB2 mutations in chinese newborn infants ascertained from the Universal Newborn Hearing Screening Program ⬇️

Hearing consequences in Gjb2 knock-in mice: implications for human p.V37I mutation

Identification of a novel CDH23 gene variant associated with non-syndromic progressive hearing loss in a Chinese family: Individualized hearing rehabilitation guided by genetic diagnosis

Identification of both MT-RNR1 m.1555A>G and bi-allelic GJB2 mutations in probands with non-syndromic hearing loss

Identification of novel OTOF compound heterozygous mutations by targeted next-generation sequencing in a Chinese patient with auditory neuropathy spectrum disorder

Investigation of clinical features and detection of 79 known deafness genes in a large Chinese family with dominant non-syndromic hearing loss

Machine learning-based genetic diagnosis models for hereditary hearing loss by the GJB2, SLC26A4 and MT-RNR1 variants

MiR-205 inhibits sporadic vestibular schwannoma cells proliferation by targeting cyclin-dependent kinase 14

Molecular epidemiology of Chinese Han deaf patients with bi-allelic and mono-allelic GJB2 mutations

Molecular etiology and genotype-phenotype correlation of Chinese Han deaf patients with type I and type II Waardenburg Syndrome

Molecular etiology of hearing impairment associated with nonsyndromic enlarged vestibular aqueduct in East China

Molecular etiology of non-dominant, non-syndromic, mild-to-moderate childhood hearing impairment in Chinese Hans

Mono-allelic mutations of SLC26A4 is over-presented in deaf patients with non-syndromic enlarged vestibular aqueduct

Mutation analysis of seven consanguineous Uyghur families with non-syndromic deafness

Mutation in PCDH15 may modify the phenotypic expression of the 7511T>C mutation in MT-TS1 in a Chinese Han family with maternally inherited nonsyndromic hearing loss

Mutation in the Hair Cell Specific Gene POU4F3 Is a Common Cause for Autosomal Dominant Nonsyndromic Hearing Loss in Chinese Hans

Mutation spectrum and differential gene expression in cystic and solid vestibular schwannoma

Mutations in KARS cause early-onset hearing loss and leukoencephalopathy: Potential pathogenic mechanism.

Mutations of KCNJ10 together with mutations of SLC26A4 cause digenic nonsyndromic hearing loss associated with enlarged vestibular aqueduct syndrome

NLRP3 Is Expressed in the Spiral Ganglion Neurons and Associated with Both Syndromic and Nonsyndromic Sensorineural Deafness.

Newborn dried blood-spot screening of the p.V37I variant of GJB2 by high-resolution melting analysis

Novel mutations in ATP6V0A4 are associated with atypical progressive sensorineural hearing loss in a Chinese patient with distal renal tubular acidosis

Postnatal Development of Microglia-Like Cells in Mouse Cochlea

Screening for delayed-onset hearing loss in preschool children who previously passed the newborn hearing screening

THOC1 deficiency leads to late-onset nonsyndromic hearing loss through p53-mediated hair cell apoptosis

Targeted Next-Generation Sequencing Identified Compound Heterozygous Mutations in MYO15A as the Probable Cause of Nonsyndromic Deafness in a Chinese Han Family

Targeted next-generation sequencing and parental genotyping in sporadic Chinese Han deaf patients.

Targeted next-generation sequencing in Uyghur families with non-syndromic sensorineural hearing loss

The European GWAS-identified risk SNP rs457717 within IQGAP2 is not associated with age-related hearing impairment in Han male Chinese population

The c.-103T>C variant in the 5'-UTR of SLC26A4 gene: a pathogenic mutation or coincidental polymorphism?

The effect of GJB2 and SLC26A4 gene mutations on rehabilitative outcomes in pediatric cochlear implant patients

The natural history of OTOF-related auditory neuropathy spectrum disorders: a multicenter study

The p.R206C Mutation in MYO7A Leads to Autosomal Dominant Nonsyndromic Hearing Loss

The p.V37I Exclusive Genotype Of GJB2: A Genetic Risk-Indicator of Postnatal Permanent Childhood Hearing Impairment ⬇️

The role of Efr3a in age-related hearing loss

The role of NF2 gene mutations and pathogenesis-related proteins in sporadic vestibular schwannomas in young individuals

Transcriptional control of SLC26A4 is involved in Pendred syndrome and nonsyndromic enlargement of vestibular aqueduct (DFNB4)

Utilizing ethnic-specific differences in minor allele frequency to recategorize reported pathogenic deafness variants.

Whole-exome sequencing identifies rare pathogenic and candidate variants in sporadic Chinese Han deaf patients

[Clinical practice guidelines for hereditary non-syndromic deafness]

[Prenatal screening and diagnosis of genetic deafness by microarray]