Tshering KC, DiStefano MT, Oza AM, et al. ClinGen recuration of hearing loss associated-genes demonstrates significant changes in gene-disease validity over time. Genetics in medicine : official journal of the American College of Medical Genetics. 2025:101392. doi:10.1016/j.gim.2025.101392
Sayeed K, Parameswaran S, Beucler MJ, et al. Human cytomegalovirus extensively re-organizes the human genome, diminishing TEAD1 transcription factor activity. bioRxiv : the preprint server for biology. 2024. doi:10.1101/2024.04.12.588762
Oza AM, DiStefano MT, Hemphill SE, et al. Expert specification of the ACMG/AMP variant interpretation guidelines for genetic hearing loss. Hum Mutat. 2018;39(11):1593-1613. doi:10.1002/humu.23630
Gao X, Tao Y, Lamas V, et al. Treatment of autosomal dominant hearing loss by in vivo delivery of genome editing agents. Nature. 2018;553(7687):217-221. doi:10.1038/nature25164
Amr SS, Murphy E, Duffy E, et al. Allele-Specific Droplet Digital PCR Combined with a Next-Generation Sequencing-Based Algorithm for Diagnostic Copy Number Analysis in Genes with High Homology: Proof of Concept Using Stereocilin. Clin Chem. 2018;64(4):705-714. doi:10.1373/clinchem.2017.280685