This page shows the publications Kevin Booth has written about Genetic Testing.
ClinGen expert clinical validity curation of 164 hearing loss gene-disease pairs. Genet Med. 2019 10; 21(10):2239-2247.
Expert specification of the ACMG/AMP variant interpretation guidelines for genetic hearing loss. Hum Mutat. 2018 11; 39(11):1593-1613.
Comprehensive genetic testing in the clinical evaluation of 1119 patients with hearing loss. Hum Genet. 2016 Apr; 135(4):441-450.
An international effort towards developing standards for best practices in analysis, interpretation and reporting of clinical genome sequencing results in the CLARITY Challenge. Genome Biol. 2014 Mar 25; 15(3):R53.
Heterogeneity of Hereditary Hearing Loss in Iran: a Comprehensive Review. Arch Iran Med. 2016 Oct 01; 19(10):720-728.
Detection and Confirmation of Deafness-Causing Copy Number Variations in the STRC Gene by Massively Parallel Sequencing and Comparative Genomic Hybridization. Ann Otol Rhinol Laryngol. 2016 Nov; 125(11):918-923.
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