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Journal of Human Genetics|April 2, 2020
When transcripts matter: delineating between non-syndromic hearing loss DFNB32 and hearing impairment infertile male syndrome (HIIMS)Marzieh Mohseni, Mojdeh Akbari, Kevin T Booth, et al.American Journal of Medical Genetics. Part A|September 30, 2015
PDZD7 and hearing loss: More than just a modifierKevin T Booth, Hela Azaiez, Kimia Kahrizi, et al.The Annals of Otology, Rhinology, and Laryngology|March 20, 2015
Novel PTPRQ mutations identified in three congenital hearing loss patients with various types of hearing lossNaoko Sakuma, Hideaki Moteki, Hela Azaiez, et al.Genetics in Medicine : Official Journal of the American College of Medical Genetics|September 25, 2018
Splice-altering variant in COL11A1 as a cause of nonsyndromic hearing loss DFNA37Kevin T Booth, James W Askew, Zohreh Talebizadeh, et al.American Journal of Human Genetics|September 25, 2018
Genomic Landscape and Mutational Signatures of Deafness-Associated GenesHela Azaiez, Kevin T Booth, Sean S Ephraim, et al.Nature Communications|April 26, 2023
Mini-PCDH15 gene therapy rescues hearing in a mouse model of Usher syndrome type 1FMaryna V Ivanchenko, Daniel M Hathaway, Alex J Klein, et al.Ophthalmic Genetics|April 14, 2020
Is it Usher syndrome? Collaborative diagnosis and molecular genetics of patients with visual impairment and hearing lossHeather A Stiff, Christina M Sloan-Heggen, Ashley Ko, et al.Plos Genetics|March 28, 2015
HOMER2, a stereociliary scaffolding protein, is essential for normal hearing in humans and miceHela Azaiez, Amanda R Decker, Kevin T Booth, et al.Scientific Reports|April 12, 2020
Insights into the pathophysiology of DFNA10 hearing loss associated with novel EYA4 variantsMatias Morín, Lucía Borreguero, Kevin T Booth, et al.Human Genetics|March 13, 2016
Comprehensive genetic testing in the clinical evaluation of 1119 patients with hearing lossChristina M Sloan-Heggen, Amanda O Bierer, A Eliot Shearer, et al.Pageof 5