Found: 4

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  • METTL23, a transcriptional partner of GABPA, is essential for human cognition.

    Published in:
    Human Molecular Genetics, 2014, v. 23, n. 13, p. 3456, doi. 10.1093/hmg/ddu054
    By:
    • Reiff, Rachel E.;
    • Ali, Bassam R.;
    • Baron, Byron;
    • Yu, Timothy W.;
    • Ben-Salem, Salma;
    • Coulter, Michael E.;
    • Schubert, Christian R.;
    • Hill, R. Sean;
    • Akawi, Nadia A.;
    • Al-Younes, Banan;
    • Kaya, Namik;
    • Evrony, Gilad D.;
    • Al-Saffar, Muna;
    • Felie, Jillian M.;
    • Partlow, Jennifer N.;
    • Sunu, Christine M.;
    • Schembri-Wismayer, Pierre;
    • Alkuraya, Fowzan S.;
    • Meyer, Brian F.;
    • Walsh, Christopher A.
    Publication type:
    Article

  • CHMP1A encodes an essential regulator of BMI1-INK4A in cerebellar development.

    Published in:
    Nature Genetics, 2012, v. 44, n. 11, p. 1260, doi. 10.1038/ng.2425
    By:
    • Mochida, Ganeshwaran H;
    • Ganesh, Vijay S;
    • de Michelena, Maria I;
    • Dias, Hugo;
    • Atabay, Kutay D;
    • Kathrein, Katie L;
    • Huang, Hsuan-Ting;
    • Hill, R Sean;
    • Felie, Jillian M;
    • Rakiec, Daniel;
    • Gleason, Danielle;
    • Hill, Anthony D;
    • Malik, Athar N;
    • Barry, Brenda J;
    • Partlow, Jennifer N;
    • Tan, Wen-Hann;
    • Glader, Laurie J;
    • Barkovich, A James;
    • Dobyns, William B;
    • Zon, Leonard I
    Publication type:
    Article

  • Mutations in WDR62, encoding a centrosome-associated protein, cause microcephaly with simplified gyri and abnormal cortical architecture.

    Published in:
    Nature Genetics, 2010, v. 42, n. 11, p. 1015, doi. 10.1038/ng.683
    By:
    • Yu, Timothy W.;
    • Mochida, Ganeshwaran H.;
    • Tischfield, David J.;
    • Sgaier, Sema K.;
    • Flores-Sarnat, Laura;
    • Sergi, Consolato M.;
    • Topçu, Meral;
    • McDonald, Marie T.;
    • Barry, Brenda J.;
    • Felie, Jillian M.;
    • Sunu, Christine;
    • Dobyns, William B;
    • Folkerth, Rebecca D;
    • Barkovich, A. James;
    • Walsh, Christopher A.
    Publication type:
    Article

  • Phenotypic heterogeneity in Woodhouse-Sakati syndrome: Two new families with a mutation in the C2orf37 gene.

    Published in:
    American Journal of Medical Genetics. Part A, 2011, v. 155A, n. 11, p. 2647, doi. 10.1002/ajmg.a.34219
    By:
    • Ben-Omran, Tawfeg;
    • Ali, Rehab;
    • Almureikhi, Mariam;
    • Alameer, Seham;
    • Al-Saffar, Muna;
    • Walsh, Christopher A.;
    • Felie, Jillian M.;
    • Teebi, Ahmad
    Publication type:
    Article