Atefeh Shirkavand

Comprehensive analysis via exome sequencing uncovers genetic etiology in autosomal recessive nonsyndromic deafness in a large multiethnic cohort

Güney Bademci, Joseph Foster, Nejat Mahdieh et al. · Genetics in Medicine · 2015 · 158 citations · Full text

Mendelian Disorder, Genetic Disorder, Genetics +11

Screening of OTOF mutations in Iran: A novel mutation and review

Nejat Mahdieh, Atefeh Shirkavand, Bahareh Rabbani et al. · International Journal of Pediatric Otorhinolaryngology · 2012 · 40 citations

Novel Mutation, Otof Mutations, Genetic Disorder +6

Impact of Consanguineous Marriages in <i>GJB2</i> -Related Hearing Loss in the Iranian Population: A Report of a Novel Variant

Nejat Mahdieh, Bahareh Rabbani, Atefeh Shirkavand et al. · Genetic Testing and Molecular Biomarkers · 2011 · 32 citations

A transversion mutation in non-coding exon 3 of the TMC1 gene in two ethnically related Iranian deaf families from different geographical regions; evidence for founder effect

Elham Davoudi-Dehaghani, Sirous Zeinali, Nejat Mahdieh et al. · International Journal of Pediatric Otorhinolaryngology · 2013 · 28 citations

Developmental Biology, Mendelian Disorder, Genetic Disorder +8

High level of intrafamilial phenotypic variability of non-syndromic hearing loss in a Lur family due to delE120 mutation in GJB2 gene

Nejat Mahdieh, Hamideh Bagherian, Atefeh Shirkavand et al. · International Journal of Pediatric Otorhinolaryngology · 2010 · 27 citations

Mendelian Disorder, Lur Family, Genetic Disorder +12