Hela Azaiez (H Azaiez)

Publication Activity (10 Years)

Years Active: 2018-2023
Publications (10 Years): 8

Top Topics

Autism Spectrum Disorder

Diabetic Retinopathy

Top Venues

Clinical genetics

European journal of human genetics : EJHG

This page only lists publications with an associated author ORCID identifier.

Publications

Rabia Faridi, Rizwan Yousaf, Shoujun Gu, Sayaka Inagaki, Amy E Turriff, Keith Pelstring, Bin Guan, Amelia Naik, Andrew J Griffith, Samuel Mawuli Adadey, Elvis Twumasi Aboagye, Gordon Akanzuwine Awandare, Robert J Morell, Ekaterini Tsilou, Amanda G Noyes, Laura Anne Goodell Sulmonte, Ambroise Wonkam, Isabelle Schrauwen, Regie Lyn P Santos-Cortez, Hela Azaiez, Carmen C Brewer, Sheikh Riazuddin, Robert B Hufnagel, Michael Hoa, Wadih M Zein, J Karl de Dios, Thomas B Friedman
Variants of LRP2, encoding a multifunctional cell-surface endocytic receptor, associated with hearing loss and retinal dystrophy. Clinical genetics (2023)
Barbara Vona, Neda Mazaheri, Sheng-Jia Lin, Lucy A Dunbar, Reza Maroofian, Hela Azaiez, Kevin T A Booth, Sandrine Vitry, Aboulfazl Rad, Franz Rüschendorf, Pratishtha Varshney, Ben Fowler, Christian Beetz, Kumar N Alagramam, David P Murphy, Gholamreza Shariati, Alireza Sedaghat, Henry Houlden, Cassidy Petree, Shruthi VijayKumar, Richard J H Smith, Thomas Haaf, Aziz El-Amraoui, Michael R Bowl, Guarav K Varshney, Hamid Galehdari
A biallelic variant in CLRN2 causes non-syndromic hearing loss in humans. Human genetics 140 (6) (2021)
Yoel Hirsch, Chayada Tangshewinsirikul, Kevin T A Booth, Hela Azaiez, Devorah Yefet, Adina Quint, Tzvi Weiden, Zippora Brownstein, Michal Macarov, Bella Davidov, John G Pappas, Rachel Rabin, Margaret A Kenna, Andrea M Oza, Katherine Lafferty, Sami S Amr, Heidi L Rehm, Diana L Kolbe, Kathy Frees, Carla Nishimura, Minjie Luo, Chantal Farra, Cynthia C Morton, Sholem Y Scher, Josef Ekstein, Karen B Avraham, Richard J H Smith, Jun Shen
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 : EJHG 29 (6) (2021)
Kevin T A Booth, Hela Azaiez, Richard J H Smith
DFNA5 (GSDME) c.991-15_991-13delTTC: Founder Mutation or Mutational Hotspot? International journal of molecular sciences 21 (11) (2020)
Kevin T Booth, Amama Ghaffar, Muhammad Rashid, Luke T Hovey, Mureed Hussain, Kathy Frees, Erika M Renkes, Carla J Nishimura, Mohsin Shahzad, Richard J Smith, Zubair Ahmed, Hela Azaiez, Saima Riazuddin
Novel loss-of-function mutations in COCH cause autosomal recessive nonsyndromic hearing loss. Human genetics 139 (12) (2020)
Kevin T A Booth, Kimia Kahrizi, Hossein Najmabadi, Hela Azaiez, Richard J H Smith
Old gene, new phenotype: splice-altering variants in CEACAM16 cause recessive non-syndromic hearing impairment. Journal of medical genetics 55 (8) (2018)
Kevin T A Booth, Hela Azaiez, Kimia Kahrizi, Donghong Wang, Yuzhou Zhang, Kathy Frees, Carla Nishimura, Hossein Najmabadi, Richard J H Smith
Exonic mutations and exon skipping: Lessons learned from DFNA5. Human mutation 39 (3) (2018)
Kevin T A Booth, Kimia Kahrizi, Mojgan Babanejad, H Daghagh, Güney Bademci, S Arzhangi, D Zareabdollahi, Duygu Duman, Aziz El-Amraoui, Mustafa Tekin, Hossein Najmabadi, Hela Azaiez, Richard J H Smith
Variants in CIB2 cause DFNB48 and not USH1J. Clinical genetics 93 (4) (2018)