Associated Papers
Genes linked to hearing and vestibular phenotypes in humans and mice: an interspecies systematic review.
Ayoub C et al.
Human Genomics, 2025
41430327 (PubMed )
Supplement: 40246_2025_891_MOESM1_ESM.xlsx › Supplementary_Table_S2.
Exome Sequencing Reveals the Genetic Architecture of Non-syndromic Orofacial Clefts and Identifies BOC as a Novel Causal Gene.
He Q et al.
Advanced Science (weinheim, Baden-wurttemberg, Germany), 2025
40464334 (PubMed )
Supplement: ADVS-12-e12073-s004.xlsx › Sheet1
Identification of three novel homozygous variants in COL9A3 causing autosomal recessive Stickler syndrome.
Rad A et al.
Orphanet Journal of Rare Diseases, 2022
Heterozygous COL9A3 variants cause severe peripheral vitreoretinal degeneration and retinal detachment.
Nash BM et al.
European Journal of Human Genetics : Ejhg, 2021
A Functional Variant Rs492554 Associated With Congenital Heart Defects Modulates SESN2 Expression Through POU2F1.
Yang W et al.
Frontiers in Cell and Developmental Biology, 2021
34249922 (PubMed )
Supplement: Table_1.xls › MQ1-2-3
Trio Clinical Exome Sequencing in a Patient With Multicentric Carpotarsal Osteolysis Syndrome: First Case Report in the Balkans.
Stajkovska A et al.
Frontiers in Genetics, 2018
Mutation analysis of COL9A3, a gene highly expressed in the cochlea, in hearing loss patients.
Asamura K et al.
Auris, Nasus, Larynx, 2005
Select a paper to view details