Hela Azaiez
University of Iowa
H-index: 31
North America-United States
Top articles of Hela Azaiez
Title | Journal | Author(s) | Publication Date |
|---|---|---|---|
The natural history and genotype–phenotype correlations of TMPRSS3 hearing loss: an international, multi-center, cohort analysis | Human Genetics | Brett M Colbert Cris Lanting Molly Smeal Susan Blanton Derek M Dykxhoorn | 2024/4/30 |
Variants of LRP2, encoding a multifunctional cell‐surface endocytic receptor, associated with hearing loss and retinal dystrophy | Clinical genetics | Rabia Faridi Rizwan Yousaf Shoujun Gu Sayaka Inagaki Amy E Turriff | 2023/6 |
Assessing variants of uncertain significance implicated in hearing loss using a comprehensive deafness proteome | Human Genetics | Mallory R Tollefson Rose A Gogal A Monique Weaver Amanda M Schaefer Robert J Marini | 2023/6 |
De novo variants are a common cause of genetic hearing loss | Genetics in medicine | Miles J Klimara Carla Nishimura Donghong Wang Diana L Kolbe Amanda M Schaefer | 2022/12/1 |
DVPred: a disease-specific prediction tool for variant pathogenicity classification for hearing loss | Human genetics | Fengxiao Bu Mingjun Zhong Qinyi Chen Yumei Wang Xia Zhao | 2022/4 |
The natural history of OTOF-related auditory neuropathy spectrum disorders: a multicenter study | Human genetics | Ryan K Thorpe Hela Azaiez Peina Wu Qiuju Wang Lei Xu | 2022/4 |
Exome sequencing utility in defining the genetic landscape of hearing loss and novel‐gene discovery in Iran | Clinical genetics | Marzieh Mohseni Mojgan Babanejad Kevin T Booth Payman Jamali Khadijeh Jalalvand | 2021/7 |
A biallelic variant in CLRN2 causes non-syndromic hearing loss in humans | Human genetics | Barbara Vona Neda Mazaheri Sheng-Jia Lin Lucy A Dunbar Reza Maroofian | 2021/6 |
A synonymous variant in MYO15A enriched in the Ashkenazi Jewish population causes autosomal recessive hearing loss due to abnormal splicing | European Journal of Human Genetics | Yoel Hirsch Chayada Tangshewinsirikul Kevin T Booth Hela Azaiez Devorah Yefet | 2021/6 |
OTOF-related deafness | Hela Azaiez Ryan K Thorpe Richard JH Smith | 2021/1/21 | |
Disease-specific ACMG/AMP guidelines improve sequence variant interpretation for hearing loss | Genetics in medicine | Mayher J Patel Marina T DiStefano Andrea M Oza Madeline Y Hughes Emma H Wilcox | 2021/11 |
gEAR: Gene Expression Analysis Resource portal for community-driven, multi-omic data exploration | Nature methods | Joshua Orvis Brian Gottfried Jayaram Kancherla Ricky S Adkins Yang Song | 2021/8 |
Biallelic mutation of CLRN2 causes non-syndromic hearing loss in humans | bioRxiv | Barbara Vona Neda Mazaheri Sheng-Jia Lin Lucy A Dunbar Reza Maroofian | 2020/7/29 |
When transcripts matter: delineating between non-syndromic hearing loss DFNB32 and hearing impairment infertile male syndrome (HIIMS) | Journal of human genetics | Marzieh Mohseni Mojdeh Akbari Kevin T Booth Mojgan Babanejad Hela Azaiez | 2020/7 |
DFNA5 (GSDME) c.991-15_991-13delTTC: Founder Mutation or Mutational Hotspot? | International journal of molecular sciences | Kevin T Booth Hela Azaiez Richard JH Smith | 2020/5/31 |
Novel loss-of-function mutations in COCH cause autosomal recessive nonsyndromic hearing loss | Human genetics | Kevin T Booth Amama Ghaffar Muhammad Rashid Luke T Hovey Mureed Hussain | 2020/12 |
Insights into the pathophysiology of DFNA10 hearing loss associated with novel EYA4 variants | Scientific reports | Matias Morín Lucía Borreguero Kevin T Booth María Lachgar Patrick Huygen | 2020/4/10 |
Is it Usher syndrome? Collaborative diagnosis and molecular genetics of patients with visual impairment and hearing loss | Ophthalmic genetics | Heather A Stiff Christina M Sloan-Heggen Ashley Ko Wanda L Pfeifer Diana L Kolbe | 2020/3/3 |
A comparative analysis of genetic hearing loss phenotypes in European/American and Japanese populations | Human genetics | W Daniel Walls Hideaki Moteki Taylor R Thomas Shin-ya Nishio Hidekane Yoshimura | 2020/10 |
Co-Authors
