Nonsyndromic Hearing Loss Latest Advances

Compound heterozygous variants in CYP4V2 and LRTOMT coinciding in a single family: a rare case of combined Bietti crystalline dystrophy and nonsyndromic hearing loss.

Journal: Ophthalmic genetics

Published: March 03, 2026

Genomic Biomarkers and Mutational Landscape of Nonsyndromic Hearing Loss (NSHL) in the Singaporean Population: Clinical Translational Implications.

Journal: Biomolecules

Published: January 15, 2026

A Novel Missense Variant in LMX1A Leads to Autosomal Dominant Nonsyndromic Hearing Loss.

Journal: American journal of medical genetics. Part A

Published: August 11, 2025

Whole Genome Sequencing Improves the Identification of Pathogenic and Novel Variation in Nonsyndromic Hearing Loss.

Journal: Human mutation

Published: June 23, 2025

The landscape of gene mutations in a cohort of 3353 Han Chinese children with nonsyndromic hearing loss.

Journal: EBioMedicine

Published: March 21, 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.

Journal: Journal of clinical laboratory analysis

Published: January 31, 2025

Functional Correlation of Two Novel Nonsense POU4F3 Mutations Causing Late-Onset Progressive Nonsyndromic Hearing Loss in DFNA15 Families.

Journal: Molecular genetics & genomic medicine

Published: December 27, 2024

Fluctuating hearing loss associated with a novel heterozygous variant in the TNC gene related to nonsyndromic hearing loss.

Journal: Brazilian journal of otorhinolaryngology

Published: October 22, 2024

Case report: A novel nonsense mutation in the MARVELD2 gene causes nonsyndromic hearing loss in a China family.

Journal: Frontiers in genetics

Published: October 08, 2024

Biallelic variants of SEMA3F are associated with nonsyndromic hearing loss.

Journal: Molecules and cells

Published: September 24, 2024

Identification and Functional Characterization of a Novel PRPS1 Variant in X-Linked Nonsyndromic Hearing Loss: Insights From Zebrafish and Cellular Models.

Journal: Human mutation

Published: September 14, 2024

Auditory Phenotype of a Novel Missense Variant in the CEACAM16 Gene in a Large Russian Family With Autosomal Dominant Nonsyndromic Hearing Loss.

Journal: The journal of international advanced otology

Published: August 19, 2024

Nonsyndromic Hearing Loss Latest Advances

Find the Latest Research About Nonsyndromic Hearing Loss

Compound heterozygous variants in CYP4V2 and LRTOMT coinciding in a single family: a rare case of combined Bietti crystalline dystrophy and nonsyndromic hearing loss.

Compound heterozygous variants in CYP4V2 and LRTOMT coinciding in a single family: a rare case of combined Bietti crystalline dystrophy and nonsyndromic hearing loss.

Genomic Biomarkers and Mutational Landscape of Nonsyndromic Hearing Loss (NSHL) in the Singaporean Population: Clinical Translational Implications.

Genomic Biomarkers and Mutational Landscape of Nonsyndromic Hearing Loss (NSHL) in the Singaporean Population: Clinical Translational Implications.

A Novel Missense Variant in LMX1A Leads to Autosomal Dominant Nonsyndromic Hearing Loss.

A Novel Missense Variant in LMX1A Leads to Autosomal Dominant Nonsyndromic Hearing Loss.

Whole Genome Sequencing Improves the Identification of Pathogenic and Novel Variation in Nonsyndromic Hearing Loss.

Whole Genome Sequencing Improves the Identification of Pathogenic and Novel Variation in Nonsyndromic Hearing Loss.

The landscape of gene mutations in a cohort of 3353 Han Chinese children with nonsyndromic hearing loss.

The landscape of gene mutations in a cohort of 3353 Han Chinese children with 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.

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

Functional Correlation of Two Novel Nonsense POU4F3 Mutations Causing Late-Onset Progressive Nonsyndromic Hearing Loss in DFNA15 Families.

Functional Correlation of Two Novel Nonsense POU4F3 Mutations Causing Late-Onset Progressive Nonsyndromic Hearing Loss in DFNA15 Families.

Fluctuating hearing loss associated with a novel heterozygous variant in the TNC gene related to nonsyndromic hearing loss.

Fluctuating hearing loss associated with a novel heterozygous variant in the TNC gene related to nonsyndromic hearing loss.

Case report: A novel nonsense mutation in the MARVELD2 gene causes nonsyndromic hearing loss in a China family.

Case report: A novel nonsense mutation in the MARVELD2 gene causes nonsyndromic hearing loss in a China family.

Biallelic variants of SEMA3F are associated with nonsyndromic hearing loss.

Biallelic variants of SEMA3F are associated with nonsyndromic hearing loss.

Identification and Functional Characterization of a Novel PRPS1 Variant in X-Linked Nonsyndromic Hearing Loss: Insights From Zebrafish and Cellular Models.

Identification and Functional Characterization of a Novel PRPS1 Variant in X-Linked Nonsyndromic Hearing Loss: Insights From Zebrafish and Cellular Models.

Auditory Phenotype of a Novel Missense Variant in the CEACAM16 Gene in a Large Russian Family With Autosomal Dominant Nonsyndromic Hearing Loss.

Auditory Phenotype of a Novel Missense Variant in the CEACAM16 Gene in a Large Russian Family With Autosomal Dominant Nonsyndromic Hearing Loss.