Huijun K. Yuan

Department Of Otolaryngology Head And Neck Surgery
Chengdu, China

Last Updated: 09/26/2026

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Found 94 publications

Breakpoint-level characterization of a novel CEP290 tandem duplication in trans with a pathogenic splice-site variant in a patient with Leber congenital amaurosis.

Breakpoint-level characterization of a novel CEP290 tandem duplication in trans with a pathogenic splice-site variant in a patient with Leber congenital amaurosis.

Journal: BMC medical genomics
Published: May 19, 2026

Complex peopling history and expansion events inferred from large-scale modern and ancient Y chromosome sequences.

Complex peopling history and expansion events inferred from large-scale modern and ancient Y chromosome sequences.

Journal: Science advances
Published: April 03, 2026

Corrigendum to "Generation of induced pluripotent stem cell line IRDWCHi001-A from a patient with hearing loss and nystagmus carrying the heterozygous TBX2 c.977delA (p.D326Afs*42) mutation" [Stem Cell Res. 90 (2026) 103906].

Corrigendum to "Generation of induced pluripotent stem cell line IRDWCHi001-A from a patient with hearing loss and nystagmus carrying the heterozygous TBX2 c.977delA (p.D326Afs*42) mutation" [Stem Cell Res. 90 (2026) 103906].

Journal: Stem cell research
Published: March 26, 2026

FedCAD: Cross-modal semantic alignment and distillation for cross-domain heterogeneous federated learning.

FedCAD: Cross-modal semantic alignment and distillation for cross-domain heterogeneous federated learning.

Journal: Neural networks : the official journal of the International Neural Network Society
Published: March 02, 2026

Natural history and phenotype-genotype correlations in GJB2-related hearing loss: a systematic and comprehensive review.

Natural history and phenotype-genotype correlations in GJB2-related hearing loss: a systematic and comprehensive review.

Journal: Journal of genetics and genomics = Yi chuan xue bao
Published: December 18, 2025

In vivo epigenome editing reduces circulating lipids and attenuates atherosclerosis in mice.

In vivo epigenome editing reduces circulating lipids and attenuates atherosclerosis in mice.

Journal: Journal of genetics and genomics = Yi chuan xue bao
Published: November 28, 2025

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

A novel non-sense variant in GSDME causing exon skipping associated with DFNA5 in a large Chinese family.

A novel non-sense variant in GSDME causing exon skipping associated with DFNA5 in a large Chinese family.

Journal: Frontiers in neurology
Published: November 25, 2025

Generation of induced pluripotent stem cell line IRDWCHi001-A from a patient with hearing loss and nystagmus carrying the heterozygous TBX2 c.977delA (p.D326Afs*42) mutation.

Generation of induced pluripotent stem cell line IRDWCHi001-A from a patient with hearing loss and nystagmus carrying the heterozygous TBX2 c.977delA (p.D326Afs*42) mutation.

Journal: Stem cell research
Published: October 23, 2025

Short tandem repeats in populations of the Qinghai-Tibet Plateau and adjacent regions provide insights into high-altitude adaptation.

Short tandem repeats in populations of the Qinghai-Tibet Plateau and adjacent regions provide insights into high-altitude adaptation.

Journal: Science advances
Published: October 17, 2025

Long-term restoration of auditory function in a DFNA2 mouse model by adenine base editing.

Long-term restoration of auditory function in a DFNA2 mouse model by adenine base editing.

Journal: EMBO molecular medicine
Published: September 13, 2025

International expert consensus on gene therapy for hereditary hearing loss: Based on clinical trials.

International expert consensus on gene therapy for hereditary hearing loss: Based on clinical trials.

Journal: Med (New York, N.Y.)
Published: July 22, 2025
Showing 1-12 of 94

Last Updated: 09/26/2026