Héla Azaiez
University of Iowa(US)
Publications by Year
Research Areas
Hearing, Cochlea, Tinnitus, Genetics, Genomics and Rare Diseases, Connexins and lens biology, Vestibular and auditory disorders, RNA regulation and disease
Most-Cited Works
- → Comprehensive genetic testing in the clinical evaluation of 1119 patients with hearing loss(2016)578 cited
- → Expert specification of the ACMG/AMP variant interpretation guidelines for genetic hearing loss(2018)506 cited
- → An international effort towards developing standards for best practices in analysis, interpretation and reporting of clinical genome sequencing results in the CLARITY Challenge(2014)432 cited
- → A novel deletion involving the connexin-30 gene, del(GJB6-d13s1854), found in trans with mutations in the GJB2 gene (connexin-26) in subjects with DFNB1 non-syndromic hearing impairment(2005)338 cited
- → Genomic Landscape and Mutational Signatures of Deafness-Associated Genes(2018)314 cited
- → gEAR: Gene Expression Analysis Resource portal for community-driven, multi-omic data exploration(2021)216 cited
- → Copy number variants are a common cause of non-syndromic hearing loss(2014)194 cited
- → Utilizing Ethnic-Specific Differences in Minor Allele Frequency to Recategorize Reported Pathogenic Deafness Variants(2014)152 cited
- → Characterising the spectrum of autosomal recessive hereditary hearing loss in Iran(2015)118 cited
- → High-Throughput Genetic Testing for Thrombotic Microangiopathies and C3 Glomerulopathies(2015)113 cited