Associated Papers
Auditory Phenotype of a Novel Missense Variant in the CEACAM16 Gene in a Large Russian Family With Autosomal Dominant Nonsyndromic Hearing Loss.
Markova TG et al.
The Journal of International Advanced Otology, 2024
Classification of domains in predicted structures of the human proteome.
Schaeffer RD et al.
Proceedings of the National Academy of Sciences of the United States of America, 2023
36917664 (PubMed )
Supplement: pnas.2214069120.sd02.xlsx › Dataset_S2
The Enigmatic Genetic Landscape of Hereditary Hearing Loss: A Multistep Diagnostic Strategy in the Italian Population.
Spedicati B et al.
Biomedicines, 2023
A novel missense variant in CEACAM16 gene causes autosomal dominant nonsyndromic hearing loss.
Zhang D et al.
Annals of Human Genetics, 2022
Genetic screening as an adjunct to universal newborn hearing screening: literature review and implications for non-congenital pre-lingual hearing loss.
D'Aguillo C et al.
International Journal of Audiology, 2019
A rapid improved multiplex ligation detection reaction method for the identification of gene mutations in hereditary hearing loss.
Liu Y et al.
Plos One, 2019
Old gene, new phenotype: splice-altering variants in CEACAM16 cause recessive non-syndromic hearing impairment.
Booth KT et al.
Journal of Medical Genetics, 2018
iFish: predicting the pathogenicity of human nonsynonymous variants using gene-specific/family-specific attributes and classifiers.
Wang M et al.
Scientific Reports, 2016
27527004 (PubMed )
Supplement: srep31321-s3.xls › NovelVar
A Novel de novo Mutation in CEACAM16 Associated with Postlingual Hearing Impairment.
Hofrichter MA et al.
Molecular Syndromology, 2015
Exome sequencing identifies a novel CEACAM16 mutation associated with autosomal dominant nonsyndromic hearing loss DFNA4B in a Chinese family.
Wang H et al.
Journal of Human Genetics, 2015
[The prenatal diagnosis and early intervention of nonsyndromic hearing loss of connexin26 gene].
He C et al.
Lin Chuang Er Bi Yan Hou Ke Za Zhi = Journal of Clinical Otorhinolaryngology, 2006
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