Hongsheng S. Chen

87 Xiangya Road
Changsha, China

Last Updated: 09/26/2026

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Found 29 publications

The Distribution and Therapeutic Effectiveness of Clinical Unilateral Ménière's Disease Phenotypes.

The Distribution and Therapeutic Effectiveness of Clinical Unilateral Ménière's Disease Phenotypes.

Journal: Clinical otolaryngology : official journal of ENT-UK ; official journal of Netherlands Society for Oto-Rhino-Laryngology & Cervico-Facial Surgery
Published: August 23, 2024

A nonsense TMEM43 variant leads to disruption of connexin-linked function and autosomal dominant auditory neuropathy spectrum disorder.

A nonsense TMEM43 variant leads to disruption of connexin-linked function and autosomal dominant auditory neuropathy spectrum disorder.

Journal: Proceedings of the National Academy of Sciences of the United States of America
Published: May 29, 2021

Establishment of an iPSC line (CSUXHi004-A) from a patient with Waardenburg syndrome type I caused by a PAX3 splice mutation.

Establishment of an iPSC line (CSUXHi004-A) from a patient with Waardenburg syndrome type I caused by a PAX3 splice mutation.

Journal: Stem cell research
Published: January 28, 2021

Establishment of an iPSC line (CSUXHi003-A) from a patient with Waardenburg syndrome type Ⅱ caused by a MITF mutation.

Establishment of an iPSC line (CSUXHi003-A) from a patient with Waardenburg syndrome type Ⅱ caused by a MITF mutation.

Journal: Stem cell research
Published: October 28, 2020

Acoustic Assessment of Tone Production of Prelingually-Deafened Mandarin-Speaking Children With Cochlear Implants.

Acoustic Assessment of Tone Production of Prelingually-Deafened Mandarin-Speaking Children With Cochlear Implants.

Journal: Frontiers in neuroscience
Published: August 08, 2020

MITF Is Mutated in Type 1 Waardenburg Syndrome With Unusual Phenotype.

MITF Is Mutated in Type 1 Waardenburg Syndrome With Unusual Phenotype.

Journal: Otology & neurotology : official publication of the American Otological Society, American Neurotology Society [and] European Academy of Otology and Neurotology
Published: August 03, 2020

Biallelic Intronic AAGGG Expansion of RFC1 is Related to Multiple System Atrophy.

Biallelic Intronic AAGGG Expansion of RFC1 is Related to Multiple System Atrophy.

Journal: Annals of neurology
Published: March 07, 2020

Extrusion pump ABCC1 was first linked with nonsyndromic hearing loss in humans by stepwise genetic analysis.

Extrusion pump ABCC1 was first linked with nonsyndromic hearing loss in humans by stepwise genetic analysis.

Journal: Genetics in medicine : official journal of the American College of Medical Genetics
Published: March 19, 2019

Proband Whole-Exome Sequencing Identified Genes Responsible for Autosomal Recessive Non-Syndromic Hearing Loss in 33 Chinese Nuclear Families.

Proband Whole-Exome Sequencing Identified Genes Responsible for Autosomal Recessive Non-Syndromic Hearing Loss in 33 Chinese Nuclear Families.

Journal: Frontiers in genetics
Published: February 24, 2019

Identification of a Novel CNV at 8q13 in a Family With Branchio-Oto-Renal Syndrome and Epilepsy.

Identification of a Novel CNV at 8q13 in a Family With Branchio-Oto-Renal Syndrome and Epilepsy.

Journal: The Laryngoscope
Published: January 09, 2019

A novel ABHD12 nonsense variant in Usher syndrome type 3 family with genotype-phenotype spectrum review.

A novel ABHD12 nonsense variant in Usher syndrome type 3 family with genotype-phenotype spectrum review.

Journal: Gene
Published: October 20, 2018

New Genotypes and Phenotypes in Patients with 3 Subtypes of Waardenburg Syndrome Identified by Diagnostic Next-Generation Sequencing.

New Genotypes and Phenotypes in Patients with 3 Subtypes of Waardenburg Syndrome Identified by Diagnostic Next-Generation Sequencing.

Journal: Neural plasticity
Published: September 26, 2018
Showing 1-12 of 29

Last Updated: 09/26/2026