Found: 3

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

    Published in:
    Human Genetics, 2021, v. 140, n. 6, p. 915, doi. 10.1007/s00439-020-02254-z
    By:
    • Vona, Barbara;
    • Mazaheri, Neda;
    • Lin, Sheng-Jia;
    • Dunbar, Lucy A.;
    • Maroofian, Reza;
    • Azaiez, Hela;
    • Booth, Kevin T.;
    • Vitry, Sandrine;
    • Rad, Aboulfazl;
    • Rüschendorf, Franz;
    • Varshney, Pratishtha;
    • Fowler, Ben;
    • Beetz, Christian;
    • Alagramam, Kumar N.;
    • Murphy, David;
    • Shariati, Gholamreza;
    • Sedaghat, Alireza;
    • Houlden, Henry;
    • Petree, Cassidy;
    • VijayKumar, Shruthi
    Publication type:
    Article

  • Evaluating the association of biallelic OGDHL variants with significant phenotypic heterogeneity.

    Published in:
    Genome Medicine, 2023, v. 15, n. 1, p. 1, doi. 10.1186/s13073-023-01258-4
    By:
    • Lin, Sheng-Jia;
    • Vona, Barbara;
    • Lau, Tracy;
    • Huang, Kevin;
    • Zaki, Maha S.;
    • Aldeen, Huda Shujaa;
    • Karimiani, Ehsan Ghayoor;
    • Rocca, Clarissa;
    • Noureldeen, Mahmoud M.;
    • Saad, Ahmed K.;
    • Petree, Cassidy;
    • Bartolomaeus, Tobias;
    • Abou Jamra, Rami;
    • Zifarelli, Giovanni;
    • Gotkhindikar, Aditi;
    • Wentzensen, Ingrid M.;
    • Liao, Mingjuan;
    • Cork, Emalyn Elise;
    • Varshney, Pratishtha;
    • Hashemi, Narges
    Publication type:
    Article

  • ABE-ultramax for high-efficiency biallelic adenine base editing in zebrafish.

    Published in:
    Nature Communications, 2024, v. 15, n. 1, p. 1, doi. 10.1038/s41467-024-49943-1
    By:
    • Qin, Wei;
    • Liang, Fang;
    • Lin, Sheng-Jia;
    • Petree, Cassidy;
    • Huang, Kevin;
    • Zhang, Yu;
    • Li, Lin;
    • Varshney, Pratishtha;
    • Mourrain, Philippe;
    • Liu, Yanmei;
    • Varshney, Gaurav K.
    Publication type:
    Article