Found: 7

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  • Comprehensive identification of somatic nucleotide variants in human brain tissue.

    Published in:
    Genome Biology, 2021, v. 22, n. 1, p. 1, doi. 10.1186/s13059-021-02285-3
    By:
    • Wang, Yifan;
    • Bae, Taejeong;
    • Thorpe, Jeremy;
    • Sherman, Maxwell A.;
    • Jones, Attila G.;
    • Cho, Sean;
    • Daily, Kenneth;
    • Dou, Yanmei;
    • Ganz, Javier;
    • Galor, Alon;
    • Lobon, Irene;
    • Pattni, Reenal;
    • Rosenbluh, Chaggai;
    • Tomasi, Simone;
    • Tomasini, Livia;
    • Yang, Xiaoxu;
    • Zhou, Bo;
    • Akbarian, Schahram;
    • Ball, Laurel L.;
    • Bizzotto, Sara
    Publication type:
    Article

  • Race and sex demographics in the surgical management of facial nerve palsy.

    Published in:
    Laryngoscope Investigative Otolaryngology, 2023, v. 8, n. 3, p. 639, doi. 10.1002/lio2.1053
    By:
    • Crawford, Kayva L.;
    • Ball, Laurel L.;
    • Kalavacherla, Sandhya;
    • Greene, Jacqueline J.;
    • Nguyen, Quyen T.;
    • Orosco, Ryan K.
    Publication type:
    Article

  • A virtual sub‐internship for otolaryngology‐head and neck surgery.

    Published in:
    Laryngoscope Investigative Otolaryngology, 2021, v. 6, n. 5, p. 952, doi. 10.1002/lio2.637
    By:
    • Bernstein, Jeffrey D.;
    • Ball, Laurel L.;
    • Nardone, Zachary B.;
    • Watson, Deborah
    Publication type:
    Article

  • Mapping recurrent mosaic copy number variation in human neurons.

    Published in:
    Nature Communications, 2024, v. 15, n. 1, p. 1, doi. 10.1038/s41467-024-48392-0
    By:
    • Sun, Chen;
    • Kathuria, Kunal;
    • Emery, Sarah B.;
    • Kim, ByungJun;
    • Burbulis, Ian E.;
    • Shin, Joo Heon;
    • Gleeson, Joseph G.;
    • Breuss, Martin W.;
    • Yang, Xiaoxu;
    • Antaki, Danny;
    • Chung, Changuk;
    • Averbuj, Dan;
    • Ball, Laurel L.;
    • Roy, Subhojit;
    • Weinberger, Daniel;
    • Jaffe, Andrew;
    • Paquola, Apua;
    • Erwin, Jennifer;
    • Straub, Richard;
    • Narurkar, Rujuta
    Publication type:
    Article

  • mTOR pathway somatic variants and the molecular pathogenesis of hemimegalencephaly.

    Published in:
    Epilepsia Open, 2020, v. 5, n. 1, p. 97, doi. 10.1002/epi4.12377
    By:
    • Garcia, Camila A. B.;
    • Carvalho, Simone C. S.;
    • Yang, Xiaoxu;
    • Ball, Laurel L.;
    • George, Renee D.;
    • James, Kiely N.;
    • Stanley, Valentina;
    • Breuss, Martin W.;
    • Thomé, Ursula;
    • Santos, Marcelo V.;
    • Saggioro, Fabiano P.;
    • Neder Serafini, Luciano;
    • Silva, Wilson A.;
    • Gleeson, Joseph G.;
    • Machado, Hélio R.
    Publication type:
    Article

  • Somatic double-hit in MTOR and RPS6 in hemimegalencephaly with intractable epilepsy.

    Published in:
    Human Molecular Genetics, 2019, v. 28, n. 22, p. 3755, doi. 10.1093/hmg/ddz194
    By:
    • Pelorosso, Cristiana;
    • Watrin, Françoise;
    • Conti, Valerio;
    • Buhler, Emmanuelle;
    • Gelot, Antoinette;
    • Yang, Xiaoxu;
    • Mei, Davide;
    • McEvoy-Venneri, Jennifer;
    • Manent, Jean-Bernard;
    • Cetica, Valentina;
    • Ball, Laurel L;
    • Buccoliero, Anna Maria;
    • Vinck, Antonin;
    • Barba, Carmen;
    • Gleeson, Joseph G;
    • Guerrini, Renzo;
    • Represa, Alfonso
    Publication type:
    Article

  • Control-independent mosaic single nucleotide variant detection with DeepMosaic.

    Published in:
    Nature Biotechnology, 2023, v. 41, n. 6, p. 870, doi. 10.1038/s41587-022-01559-w
    By:
    • Yang, Xiaoxu;
    • Xu, Xin;
    • Breuss, Martin W.;
    • Antaki, Danny;
    • Ball, Laurel L.;
    • Chung, Changuk;
    • Shen, Jiawei;
    • Li, Chen;
    • George, Renee D.;
    • Wang, Yifan;
    • Bae, Taejeong;
    • Cheng, Yuhe;
    • Abyzov, Alexej;
    • Wei, Liping;
    • Alexandrov, Ludmil B.;
    • Sebat, Jonathan L.;
    • NIMH Brain Somatic Mosaicism Network;
    • Averbuj, Dan;
    • Roy, Subhojit;
    • Courchesne, Eric
    Publication type:
    Article