Héla Azaiez

NeuroscienceBiochemistry, Genetics and Molecular Biology

Pilot corpus only

This score is computed over theSindex pilot corpus and does not cover the full scientific literature. Scores are relative to papers we have ingested — papers, authors, and institutions outside the pilot are not represented. Methodology.

Top 100%percentile

0Author DataRank

Indexed papers

0in pilot corpus

datarank_citation_only_1hop_v6· scope data_onlyMethodology

Papers

Driven by 9 papers. Top paper: “Insights into the pathophysiology of DFNA10 hearing loss associated with novel EYA4 variants”.

Insights into the pathophysiology of DFNA10 hearing loss associated with novel EYA4 variants

Scientific Reports(2020)10.1038/s41598-020-63256-5

N/A

0DataRank · unranked

87 citations

Lucía Borreguero, Kevin T. Booth, María Lachgar, P.L.M. Huygen, Manuela Villamar +11 more

Biallelic mutation of CLRN2 causes non-syndromic hearing loss in humans

bioRxiv (Cold Spring Harbor Laboratory)(2020)10.1101/2020.07.29.222828

N/A

0DataRank · unranked

3 citations

Neda Mazaheri, Sheng‐Jia Lin, Lucy A Dunbar, Reza Maroofian, Héla Azaiez +19 more

A biallelic variant in CLRN2 causes non-syndromic hearing loss in humans

Human Genetics(2021)10.1007/s00439-020-02254-z

N/A

0DataRank · unranked

28 citations

Neda Mazaheri, Sheng‐Jia Lin, Lucy A Dunbar, Reza Maroofian, Héla Azaiez +21 more

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(2021)10.1038/s41431-020-00790-w

N/A

0DataRank · unranked

17 citations

Chayada Tangshewinsirikul, Kevin T. Booth, Héla Azaiez, Devorah Yefet, Adina Quint +23 more

Disease-specific ACMG/AMP guidelines improve sequence variant interpretation for hearing loss

medRxiv(2021)10.1101/2021.01.27.21250652

N/A

0DataRank · unranked

8 citations

Marina T. DiStefano, Andrea M. Oza, Madeline Y. Hughes, Emma H. Wilcox, Sarah E. Hemphill +18 more

Variants of LRP2 , encoding a multifunctional cell‐surface endocytic receptor, associated with hearing loss and retinal dystrophy

Clinical Genetics(2023)10.1111/cge.14312

N/A

0DataRank · unranked

23 citations

Rizwan Yousaf, Shoujun Gu, Sayaka Inagaki, Amy Turriff, Keith Pelstring +22 more

Assessing Variants of Uncertain Significance Implicated in Hearing Loss Using a Comprehensive Deafness Proteome

Research Square(2023)10.21203/rs.3.rs-2508462/v1

N/A

0DataRank · unranked

2 citations

Rose A. Gogal, Amy Weaver, Amanda M. Schaefer, Robert J. Marini, Héla Azaiez +8 more

ClinGen recuration of hearing loss-associated genes demonstrates significant changes in gene-disease validity over time

Genetics in Medicine(2025)10.1016/j.gim.2025.101392

N/A

0DataRank · unranked

1 citations

Marina T. DiStefano, Andrea M. Oza, Pamela Ajuyah, Ryan Webb, Enyonam Edoh +76 more

Investigation of GSDME results in the identification of the first pathogenic synonymous variants and genotype-phenotype correlations

Human Genetics(2025)10.1007/s00439-025-02782-6

N/A

0DataRank · unranked

0 citations

William D. Walls, Kai Wang, Arthur Duston Odell, Diana L. Kolbe, Kevin T. Booth +3 more