Mingjun Zhong

Chengdu, China

Last Updated: 09/26/2026

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Found 12 publications

HSD17B7 is required for the function of sensory hair cells by regulating cholesterol synthesis.

HSD17B7 is required for the function of sensory hair cells by regulating cholesterol synthesis.

Journal: eLife
Published: June 03, 2026

Optimising POU3F4 variant interpretation through gene-specific evidence in X-linked hearing loss.

Optimising POU3F4 variant interpretation through gene-specific evidence in X-linked hearing loss.

Journal: EBioMedicine
Published: November 25, 2025

Heterozygous TBX2 frameshift variants cause a novel syndromic hearing loss with incompletely penetrant nystagmus.

Heterozygous TBX2 frameshift variants cause a novel syndromic hearing loss with incompletely penetrant nystagmus.

Journal: Journal of medical genetics
Published: June 12, 2025

Multiple nucleotide variants in genetic diagnosis: implications from 11,467 cases of hearing loss.

Multiple nucleotide variants in genetic diagnosis: implications from 11,467 cases of hearing loss.

Journal: Journal of genetics and genomics = Yi chuan xue bao
Published: January 12, 2025

Enhanced identification of novel pathogenic variants in hereditary hearing loss through physical phasing with integrated short and long-read sequencing data.

Enhanced identification of novel pathogenic variants in hereditary hearing loss through physical phasing with integrated short and long-read sequencing data.

Journal: Molecular genetics and genomics : MGG
Published: October 30, 2024

GDC: Integration of Multi-Omic and Phenotypic Resources to Unravel the Genetic Pathogenesis of Hearing Loss.

GDC: Integration of Multi-Omic and Phenotypic Resources to Unravel the Genetic Pathogenesis of Hearing Loss.

Journal: Advanced science (Weinheim, Baden-Wurttemberg, Germany)
Published: July 30, 2024

Genotype-phenotype spectrum and correlation of PHARC Syndrome due to pathogenic ABHD12 variants.

Genotype-phenotype spectrum and correlation of PHARC Syndrome due to pathogenic ABHD12 variants.

Journal: BMC medical genomics
Published: December 18, 2023

Molecular diagnosis, clinical evaluation and phenotypic spectrum of Townes-Brocks syndrome: insights from a large Chinese hearing loss cohort.

Molecular diagnosis, clinical evaluation and phenotypic spectrum of Townes-Brocks syndrome: insights from a large Chinese hearing loss cohort.

Journal: Journal of medical genetics
Published: August 17, 2023

Quantitative thresholds for variant enrichment in 13,845 cases: improving pathogenicity classification in genetic hearing loss.

Quantitative thresholds for variant enrichment in 13,845 cases: improving pathogenicity classification in genetic hearing loss.

Journal: Genome medicine
Published: July 21, 2023

DVPred: a disease-specific prediction tool for variant pathogenicity classification for hearing loss.

DVPred: a disease-specific prediction tool for variant pathogenicity classification for hearing loss.

Journal: Human genetics
Published: July 12, 2021

Two novel BTD mutations causing profound biotinidase deficiency in a Chinese patient.

Two novel BTD mutations causing profound biotinidase deficiency in a Chinese patient.

Journal: Molecular genetics & genomic medicine
Published: July 06, 2020

Identification of a complex genomic rearrangement in TMPRSS3 by massively parallel sequencing in Chinese cases with prelingual hearing loss.

Identification of a complex genomic rearrangement in TMPRSS3 by massively parallel sequencing in Chinese cases with prelingual hearing loss.

Journal: Molecular genetics & genomic medicine
Published: December 06, 2018
Showing 1-12 of 12

Last Updated: 09/26/2026