Sha-sha Huang

Key Laboratory Of Hearing Science
Beijing, China

Last Updated: 09/26/2026

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Found 30 publications

Novel splice-site variants in TMPRSS3 impair hearing via exon skipping and abrogated protease activity.

Novel splice-site variants in TMPRSS3 impair hearing via exon skipping and abrogated protease activity.

Journal: Frontiers in genetics

Published: January 20, 2026

A novel GRHL2 nonsense variant impairs auditory function via a gain-of-function mechanism in autosomal dominant hearing loss.

A novel GRHL2 nonsense variant impairs auditory function via a gain-of-function mechanism in autosomal dominant hearing loss.

Journal: Acta oto-laryngologica

Published: December 10, 2025

A cohort study of neonatal hearing testing and genetic screening for variants associated with susceptibility to aminoglycoside antibiotic-induced hearing loss in Beijing, China.

A cohort study of neonatal hearing testing and genetic screening for variants associated with susceptibility to aminoglycoside antibiotic-induced hearing loss in Beijing, China.

Journal: Medicine

Published: June 30, 2025

A Novel Frameshift Variant c.1023_1029del (p.Asp342ArgfsTer54) Leading to Extended Incorrect Protein C Termini in HOMER2 Causing Autosomal Dominant Nonsyndromic Hearing Loss.

A Novel Frameshift Variant c.1023_1029del (p.Asp342ArgfsTer54) Leading to Extended Incorrect Protein C Termini in HOMER2 Causing Autosomal Dominant Nonsyndromic Hearing Loss.

Journal: Journal of clinical laboratory analysis

Published: January 31, 2025

Recessive variants in TWNK cause syndromic and non-syndromic post-synaptic auditory neuropathy through MtDNA replication defects.

Recessive variants in TWNK cause syndromic and non-syndromic post-synaptic auditory neuropathy through MtDNA replication defects.

Journal: Human genetics

Published: January 23, 2025

MPZL2-a common autosomal recessive deafness gene related to moderate sensorineural hearing loss in the Chinese population.

MPZL2-a common autosomal recessive deafness gene related to moderate sensorineural hearing loss in the Chinese population.

Journal: BMC medical genomics

Published: July 17, 2023

A gross deletion of the PAX3 gene in a large Chinese family with Waardenburg syndrome type I.

A gross deletion of the PAX3 gene in a large Chinese family with Waardenburg syndrome type I.

Journal: World journal of pediatrics : WJP

Published: November 03, 2022

Addition of an affected family member to a previously ascertained autosomal recessive nonsyndromic hearing loss pedigree and systematic phenotype-genotype analysis of splice-site variants in MYO15A.

Addition of an affected family member to a previously ascertained autosomal recessive nonsyndromic hearing loss pedigree and systematic phenotype-genotype analysis of splice-site variants in MYO15A.

Journal: BMC medical genomics

Published: June 17, 2022

Mitochondrial tRNASer(UCN) mutations associated non-syndromic sensorineural hearing loss in Chinese families.

Mitochondrial tRNASer(UCN) mutations associated non-syndromic sensorineural hearing loss in Chinese families.

Journal: Heliyon

Published: March 22, 2022

Genetic Analysis of the LOXHD1 Gene in Chinese Patients With Non-Syndromic Hearing Loss.

Genetic Analysis of the LOXHD1 Gene in Chinese Patients With Non-Syndromic Hearing Loss.

Journal: Frontiers in genetics

Published: November 29, 2021

Transcriptome analysis of the early stage ifnlr1-mutant zebrafish indicates the immune response to auditory dysfunction.

Transcriptome analysis of the early stage ifnlr1-mutant zebrafish indicates the immune response to auditory dysfunction.

Journal: Gene expression patterns : GEP

Published: November 09, 2021

Establishment of human induced pluripotent stem cell line (CPGHi002-A) from a 10-month-old female patient with DDOD syndrome carrying a heterozygous c.1516 C > T mutation in ATP6V1B2.

Establishment of human induced pluripotent stem cell line (CPGHi002-A) from a 10-month-old female patient with DDOD syndrome carrying a heterozygous c.1516 C > T mutation in ATP6V1B2.

Journal: Stem cell research

Published: August 26, 2020

Showing 1-12 of 30

Last Updated: 09/26/2026