The digenic hypothesis unraveled: The GJB6 del(GJB6-D13S1830) mutation causes allele-specific loss of GJB2 expression in cis
Author:
Funder
the Arline and Pete Harman Faculty Scholar Endowed Fund
Publisher
Elsevier BV
Subject
Cell Biology,Molecular Biology,Biochemistry,Biophysics
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1. A murine model for the del(GJB6-D13S1830) deletion recapitulating the phenotype of human DFNB1 hearing impairment: generation and functional and histopathological study;BMC Genomics;2024-04-11
2. Genome Sequencing Unveils the Role of Copy Number Variants in Hearing Loss and Identifies Novel Deletions With Founder Effect in the DFNB1 Locus;Human Mutation;2024-01
3. Use of genome sequencing to hunt for cryptic second-hit variants: analysis of 31 cases recruited to the 100 000 Genomes Project;Journal of Medical Genetics;2023-08-09
4. Recent insights into gap junction biogenesis in the cochlea;Developmental Dynamics;2022-09-26
5. 3D Chromatin Organization Involving MEIS1 Factor in the cis-Regulatory Landscape of GJB2;International Journal of Molecular Sciences;2022-06-23
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