Found: 3

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  • Variable Clinical Manifestations of Xia‐Gibbs syndrome: Findings of Consecutively Identified Cases at a Single Children's Hospital.

    Published in:
    American Journal of Medical Genetics. Part A, 2018, v. 176, n. 9, p. 1890, doi. 10.1002/ajmg.a.40380
    By:
    • Ritter, Alyssa L.;
    • McDougall, Carey;
    • Skraban, Cara;
    • Medne, Livija;
    • Bedoukian, Emma C.;
    • Asher, Stephanie B.;
    • Balciuniene, Jorune;
    • Campbell, Colleen D.;
    • Baker, Samuel W.;
    • Denenberg, Elizabeth H.;
    • Mazzola, Sarah;
    • Fiordaliso, Sarah K.;
    • Krantz, Ian D.;
    • Kaplan, Paige;
    • Ierardi‐Curto, Lynne;
    • Santani, Avni B.;
    • Zackai, Elaine H.;
    • Izumi, Kosuke
    Publication type:
    Article

  • A novel TP53 tandem duplication in a child with Li--Fraumeni syndrome.

    Published in:
    Cold Spring Harbor Molecular Case Studies, 2022, v. 8, n. 3, p. 1, doi. 10.1101/mcs.a006181
    By:
    • Feng Xu;
    • Eshghi, Erfan Aref;
    • Jinhua Wu;
    • Schubert, Jeffrey;
    • Wertheim, Gerald;
    • Bhatti, Tricia;
    • Pogoriler, Jennifer;
    • Patel, Maha;
    • Kajia Cao;
    • Ariel Long;
    • Zhiqian Fan;
    • Denenberg, Elizabeth H.;
    • Fanning, Elizabeth A.;
    • Wilmoth, Donna M.;
    • Minjie Luo;
    • Conlin, Laura K.;
    • Dain, Aleksandra S.;
    • Zelley, Kristin;
    • Baldino, Sarah;
    • Balamuth, Naomi
    Publication type:
    Article

  • Identification of TP53 germline variants in pediatric patients undergoing tumor testing: strategy and prevalence.

    Published in:
    JNCI: Journal of the National Cancer Institute, 2024, v. 116, n. 8, p. 1356, doi. 10.1093/jnci/djae102
    By:
    • Luo, Minjie;
    • Wong, Derek;
    • Zelley, Kristin;
    • Wu, Jinhua;
    • Schubert, Jeffery;
    • Denenberg, Elizabeth H;
    • Fanning, Elizabeth A;
    • Chen, Jiani;
    • Gallo, Daniel;
    • Golenberg, Netta;
    • Patel, Maha;
    • Conlin, Laura K;
    • Maxwell, Kara N;
    • Wertheim, Gerald B;
    • Surrey, Lea F;
    • Zhong, Yiming;
    • Brodeur, Garrett M;
    • MacFarland, Suzanne P;
    • Li, Marilyn M
    Publication type:
    Article