Found: 5

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  • FGF12 copy number variant associated with epileptic encephalopathy.

    Published in:
    Clinical Genetics, 2024, v. 106, n. 1, p. 114, doi. 10.1111/cge.14542
    By:
    • Abraham, Anna;
    • Ramsey, Keri;
    • Belnap, Newell;
    • Szelinger, Szabolcs;
    • Jepsen, Wayne;
    • Balak, Chris;
    • Sanchez‐Castillo, Meredith;
    • Naymik, Marcus;
    • Bonfitto, Anna;
    • Rangasamy, Sampathkumar;
    • Kruglyak, Semyon;
    • Huentelman, Matthew;
    • Narayanan, Vinodh
    Publication type:
    Article

  • Genetic and Protein Network Underlying the Convergence of Rett-Syndrome-like (RTT-L) Phenotype in Neurodevelopmental Disorders.

    Published in:
    Cells (2073-4409), 2023, v. 12, n. 10, p. 1437, doi. 10.3390/cells12101437
    By:
    • Frankel, Eric;
    • Podder, Avijit;
    • Sharifi, Megan;
    • Pillai, Roshan;
    • Belnap, Newell;
    • Ramsey, Keri;
    • Dodson, Julius;
    • Venugopal, Pooja;
    • Brzezinski, Molly;
    • Llaci, Lorida;
    • Gerald, Brittany;
    • Mills, Gabrielle;
    • Sanchez-Castillo, Meredith;
    • Balak, Chris D.;
    • Szelinger, Szabolcs;
    • Jepsen, Wayne M.;
    • Siniard, Ashley L.;
    • Richholt, Ryan;
    • Naymik, Marcus;
    • Schrauwen, Isabelle
    Publication type:
    Article

  • Mutations in TAF8 cause a neurodegenerative disorder.

    Published in:
    2022
    By:
    • Wong, Keit Men;
    • Jepsen, Wayne M;
    • Efthymiou, Stephanie;
    • Salpietro, Vincenzo;
    • Sanchez-Castillo, Meredith;
    • Yip, Janice;
    • Kriouile, Yamna;
    • Diegmann, Susann;
    • Dreha-Kulaczewski, Steffi;
    • Altmüller, Janine;
    • Thiele, Holger;
    • Nürnberg, Peter;
    • Toosi, Mehran Beiraghi;
    • Akhondian, Javad;
    • Karimiani, Ehsan Ghayoor;
    • Hummel-Abmeier, Hannah;
    • Huppke, Brenda;
    • Houlden, Henry;
    • Gärtner, Jutta;
    • Maroofian, Reza
    Publication type:
    journal article

  • Progressive cerebellar atrophy caused by heterozygous TECPR2 mutations.

    Published in:
    Molecular Genetics & Genomic Medicine, 2022, v. 10, n. 2, p. 1, doi. 10.1002/mgg3.1857
    By:
    • Ramsey, Keri;
    • Belnap, Newell;
    • Bonfitto, Anna;
    • Jepsen, Wayne;
    • Naymik, Marcus;
    • Sanchez‐Castillo, Meredith;
    • Craig, David W.;
    • Szelinger, Szabolcs;
    • Huentelman, Matthew J.;
    • Narayanan, Vinodh;
    • Rangasamy, Sampath
    Publication type:
    Article

  • Two additional males with X‐linked, syndromic mental retardation carry de novo mutations in HNRNPH2.

    Published in:
    Clinical Genetics, 2019, v. 96, n. 2, p. 183, doi. 10.1111/cge.13580
    By:
    • Jepsen, Wayne M.;
    • Ramsey, Keri;
    • Szelinger, Szabolcs;
    • Llaci, Lorida;
    • Balak, Chris;
    • Belnap, Newell;
    • Bilagody, Cherae;
    • De Both, Matthew;
    • Gupta, Raj;
    • Naymik, Marcus;
    • Pandey, Richa;
    • Piras, Ignazio S.;
    • Sanchez‐Castillo, Meredith;
    • Rangasamy, Sampathkumar;
    • Narayanan, Vinodh;
    • Huentelman, Matthew J.
    Publication type:
    Article