Associated Papers
A Novel Frameshift Variant c.1023_1029del (p.Asp342ArgfsTer54) Leading to Extended Incorrect Protein C Termini in HOMER2 Causing Autosomal Dominant Nonsyndromic Hearing Loss.
Peng LT et al.
Journal of Clinical Laboratory Analysis, 2026
Impact of HOMER2 frameshift extension variant on auditory function and development.
Han E et al.
Journal of Molecular Medicine (berlin, Germany), 2025
Identification and in vivo functional investigation of a HOMER2 nonstop variant causing hearing loss.
Vaché C et al.
European Journal of Human Genetics : Ejhg, 2023
A Novel Truncating Mutation in HOMER2 Causes Nonsyndromic Progressive DFNA68 Hearing Loss in a Spanish Family.
Lachgar M et al.
Genes, 2021
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
Whole exome sequencing identified a second pathogenic variant in HOMER2 for autosomal dominant non-syndromic deafness.
Lu X et al.
Clinical Genetics, 2018
HOMER2, a stereociliary scaffolding protein, is essential for normal hearing in humans and mice.
Azaiez H et al.
Plos Genetics, 2015
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