Found: 8

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  • Bi-allelic ACBD6 variants lead to a neurodevelopmental syndrome with progressive and complex movement disorders.

    Published in:
    Brain: A Journal of Neurology, 2024, v. 147, n. 4, p. 1436, doi. 10.1093/brain/awad380
    By:
    • Kaiyrzhanov, Rauan;
    • Rad, Aboulfazl;
    • Lin, Sheng-Jia;
    • Bertoli-Avella, Aida;
    • Kallemeijn, Wouter W;
    • Godwin, Annie;
    • Zaki, Maha S;
    • Huang, Kevin;
    • Lau, Tracy;
    • Petree, Cassidy;
    • Efthymiou, Stephanie;
    • Karimiani, Ehsan Ghayoor;
    • Hempel, Maja;
    • Normand, Elizabeth A;
    • Rudnik-Schöneborn, Sabine;
    • Schatz, Ulrich A;
    • Baggelaar, Marc P;
    • Ilyas, Muhammad;
    • Sultan, Tipu;
    • Alvi, Javeria Raza
    Publication type:
    Article

  • 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

  • Naa80 is required for actin N-terminal acetylation and normal hearing in zebrafish.

    Published in:
    Life Science Alliance, 2024, v. 7, n. 12, p. 1, doi. 10.26508/lsa.202402795
    By:
    • Ree, Rasmus;
    • Sheng-Jia Lin;
    • Dahl, Lars Ole Sti;
    • Huang, Kevin;
    • Petree, Cassidy;
    • Varshney, Gaurav K.;
    • Arnesen, Thomas
    Publication type:
    Article

  • MultiFRAGing: Rapid and Simultaneous Genotyping of Multiple Alleles in a Single Reaction.

    Published in:
    Scientific Reports, 2020, v. 10, n. 1, p. 1, doi. 10.1038/s41598-020-59986-1
    By:
    • Petree, Cassidy;
    • Varshney, Gaurav K.
    Publication type:
    Article

  • Front Cover, Volume 43, Issue 10.

    Published in:
    Human Mutation, 2022, v. 43, n. 10, p. i, doi. 10.1002/humu.24464
    By:
    • Lin, Sheng‐Jia;
    • Vona, Barbara;
    • Porter, Hillary M.;
    • Izadi, Mahmoud;
    • Huang, Kevin;
    • Lacassie, Yves;
    • Rosenfeld, Jill A.;
    • Khan, Saadullah;
    • Petree, Cassidy;
    • Ali, Tayyiba A.;
    • Muhammad, Nazif;
    • Khan, Sher A.;
    • Muhammad, Noor;
    • Liu, Pengfei;
    • Haymon, Marie‐Louise;
    • Rüschendorf, Franz;
    • Kong, Il‐Keun;
    • Schnapp, Linda;
    • Shur, Natasha;
    • Chorich, Lynn
    Publication type:
    Article

  • Biallelic variants in WARS1 cause a highly variable neurodevelopmental syndrome and implicate a critical exon for normal auditory function.

    Published in:
    Human Mutation, 2022, v. 43, n. 10, p. 1472, doi. 10.1002/humu.24435
    By:
    • Lin, Sheng‐Jia;
    • Vona, Barbara;
    • Porter, Hillary M.;
    • Izadi, Mahmoud;
    • Huang, Kevin;
    • Lacassie, Yves;
    • Rosenfeld, Jill A.;
    • Khan, Saadullah;
    • Petree, Cassidy;
    • Ali, Tayyiba A.;
    • Muhammad, Nazif;
    • Khan, Sher A.;
    • Muhammad, Noor;
    • Liu, Pengfei;
    • Haymon, Marie‐Louise;
    • Rüschendorf, Franz;
    • Kong, Il‐Keun;
    • Schnapp, Linda;
    • Shur, Natasha;
    • Chorich, Lynn
    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