Found: 5

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  • PSMD12 haploinsufficiency in a neurodevelopmental disorder with autistic features.

    Published in:
    American Journal of Medical Genetics. Part B: Neuropsychiatric Genetics, 2018, v. 177, n. 8, p. 736, doi. 10.1002/ajmg.b.32688
    By:
    • Khalil, Raida;
    • Kenny, Connor;
    • Hill, R. Sean;
    • Mochida, Ganeshwaran H.;
    • Nasir, Ramzi;
    • Partlow, Jennifer N.;
    • Barry, Brenda J.;
    • Al‐Saffar, Muna;
    • Egan, Chloe;
    • Stevens, Christine R.;
    • Gabriel, Stacey B.;
    • Barkovich, A. James;
    • Ellison, Jay W.;
    • Al‐Gazali, Lihadh;
    • Walsh, Christopher A.;
    • Chahrour, Maria H.
    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

  • Exome Sequencing and the Identification of New Genes and Shared Mechanisms in Polymicrogyria.

    Published in:
    JAMA Neurology, 2023, v. 80, n. 9, p. 980, doi. 10.1001/jamaneurol.2023.2363
    By:
    • Akula, Shyam K.;
    • Chen, Allen Y.;
    • Neil, Jennifer E.;
    • Shao, Diane D.;
    • Mo, Alisa;
    • Hylton, Norma K.;
    • DiTroia, Stephanie;
    • Ganesh, Vijay S.;
    • Smith, Richard S.;
    • O'Kane, Katherine;
    • Yeh, Rebecca C.;
    • Marciano, Jack H.;
    • Kirkham, Samantha;
    • Kenny, Connor J.;
    • Song, Janet H. T.;
    • Al Saffar, Muna;
    • Millan, Francisca;
    • Harris, David J.;
    • Murphy, Andrea V.;
    • Klemp, Kara C.
    Publication type:
    Article

  • Developmental and degenerative features in a complicated spastic paraplegia.

    Published in:
    Annals of Neurology, 2010, v. 67, n. 4, p. 516, doi. 10.1002/ana.21923
    By:
    • Manzini, M. Chiara;
    • Rajab, Anna;
    • Maynard, Thomas M.;
    • Mochida, Ganeshwaran H.;
    • Tan, Wen-Hann;
    • Nasir, Ramzi;
    • Hill, R. Sean;
    • Gleason, Danielle;
    • Al Saffar, Muna;
    • Partlow, Jennifer N.;
    • Barry, Brenda J.;
    • Vernon, Mike;
    • LaMantia, Anthony-Samuel;
    • Walsh, Christopher A.
    Publication type:
    Article

  • 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