Works by Amudhavalli, Shivarajan


Results: 10
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    Heterozygous HMGB1 loss‐of‐function variants are associated with developmental delay and microcephaly.

    Published in:
    Clinical Genetics, 2021, v. 100, n. 4, p. 386, doi. 10.1111/cge.14015
    By:
    • Uguen, Kévin;
    • Krysiak, Kilannin;
    • Audebert‐Bellanger, Séverine;
    • Redon, Sylvia;
    • Benech, Caroline;
    • Viora‐Dupont, Eléonore;
    • Tran Mau‐Them, Frederic;
    • Rondeau, Sophie;
    • Elsharkawi, Ibrahim;
    • Granadillo, Jorge L.;
    • Neidich, Julie;
    • Soares, Celia Azevedo;
    • Tkachenko, Natáliya;
    • M. Amudhavalli, Shivarajan;
    • Engleman, Kendra;
    • Boland, Anne;
    • Deleuze, Jean‐François;
    • Bezieau, Stéphane;
    • Odent, Sylvie;
    • Toutain, Annick
    Publication type:
    Article
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    MAGEL2‐related disorders: A study and case series.

    Published in:
    Clinical Genetics, 2019, v. 96, n. 6, p. 493, doi. 10.1111/cge.13620
    By:
    • Patak, Jameson;
    • Gilfert, James;
    • Byler, Melissa;
    • Neerukonda, Vamsee;
    • Thiffault, Isabelle;
    • Cross, Laura;
    • Amudhavalli, Shivarajan;
    • Pacio‐Miguez, Marta;
    • Palomares‐Bralo, Maria;
    • Garcia‐Minaur, Sixto;
    • Santos‐Simarro, Fernando;
    • Powis, Zoe;
    • Alcaraz, Wendy;
    • Tang, Sha;
    • Jurgens, Julie;
    • Barry, Brenda;
    • England, Eleina;
    • Engle, Elizabeth;
    • Hess, Jonathon;
    • Lebel, Robert R.
    Publication type:
    Article
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    Syndromic neurodevelopmental disorder associated with de novo variants in DDX23.

    Published in:
    American Journal of Medical Genetics. Part A, 2021, v. 185, n. 10, p. 2863, doi. 10.1002/ajmg.a.62359
    By:
    • Burns, William;
    • Bird, Lynne M.;
    • Heron, Delphine;
    • Keren, Boris;
    • Ramachandra, Divya;
    • Thiffault, Isabelle;
    • Del Viso, Florencia;
    • Amudhavalli, Shivarajan;
    • Engleman, Kendra;
    • Parenti, Ilaria;
    • Kaiser, Frank J.;
    • Wierzba, Jolanta;
    • Riedhammer, Korbinian M.;
    • Liptay, Susanne;
    • Zadeh, Neda;
    • Porrmann, Joseph;
    • Fischer, Andrea;
    • Gößwein, Sophie;
    • McLaughlin, Heather M.;
    • Telegrafi, Aida
    Publication type:
    Article
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    Expanding the Phenotype of Feingold Syndrome-2.

    Published in:
    American Journal of Medical Genetics. Part A, 2015, v. 167A, n. 12, p. 3219, doi. 10.1002/ajmg.a.37368
    By:
    • Grote, Lauren E.;
    • Repnikova, Elena A.;
    • Amudhavalli, Shivarajan M.
    Publication type:
    Article