Found: 5

Select item for more details and to access through your institution.

  • 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

  • Telomere Length and Autism Spectrum Disorder Within the Family: Relationships With Cognition and Sensory Symptoms.

    Published in:
    Autism Research: Official Journal of the International Society for Autism Research, 2020, v. 13, n. 7, p. 1094, doi. 10.1002/aur.2307
    By:
    • Lewis, Candace R.;
    • Taguinod, Francis;
    • Jepsen, Wayne M.;
    • Cohen, Jorey;
    • Agrawal, Komal;
    • Huentelman, Matthew J.;
    • Smith, Christopher J.;
    • Ringenbach, Shannon D.R.;
    • Braden, B. Blair
    Publication type:
    Article

  • Compound heterozygous mutations in SNAP29 is associated with Pelizaeus-Merzbacher-like disorder (PMLD).

    Published in:
    Human Genetics, 2019, v. 138, n. 11/12, p. 1409, doi. 10.1007/s00439-019-02077-7
    By:
    • Llaci, Lorida;
    • Ramsey, Keri;
    • Belnap, Newell;
    • Claasen, Ana M.;
    • Balak, Chris D.;
    • Szelinger, Szabolcs;
    • Jepsen, Wayne M.;
    • Siniard, Ashley L.;
    • Richholt, Ryan;
    • Izat, Tyler;
    • Naymik, Marcus;
    • De Both, Matt;
    • Piras, Ignazio S.;
    • Craig, David W.;
    • Huentelman, Matthew J.;
    • Narayanan, Vinodh;
    • Schrauwen, Isabelle;
    • Rangasamy, Sampathkumar
    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

  • 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