Found: 8

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  • Centriolar satellites assemble centrosomal microcephaly proteins to recruit CDK2 and promote centriole duplication.

    Published in:
    eLife, 2015, p. 1, doi. 10.7554/eLife.07519
    By:
    • Kodani, Andrew;
    • Yu, Timothy W.;
    • Johnson, Jeffrey R.;
    • Jayaraman, Divya;
    • Johnson, Tasha L.;
    • Al-Gazali, Lihadh;
    • Sztriha, Lāszló;
    • Partlow, Jennifer N.;
    • Kim, Hanjun;
    • Krup, Alexis L.;
    • Dammermann, Alexander;
    • Krogan, Nevan;
    • Walsh, Christopher A.;
    • Reiter, Jeremy F.
    Publication type:
    Article

  • 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

  • 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

  • SLC25A22 is a novel gene for migrating partial seizures in infancy.

    Published in:
    Annals of Neurology, 2013, v. 74, n. 6, p. 873, doi. 10.1002/ana.23998
    By:
    • Poduri, Annapurna;
    • Heinzen, Erin L.;
    • Chitsazzadeh, Vida;
    • Lasorsa, Francesco Massimo;
    • Elhosary, P. Christina;
    • LaCoursiere, Christopher M.;
    • Martin, Emilie;
    • Yuskaitis, Christopher J.;
    • Hill, Robert Sean;
    • Atabay, Kutay Deniz;
    • Barry, Brenda;
    • Partlow, Jennifer N.;
    • Bashiri, Fahad A.;
    • Zeidan, Radwan M.;
    • Elmalik, Salah A.;
    • Kabiraj, Mohammad M. U.;
    • Kothare, Sanjeev;
    • Stödberg, Tommy;
    • McTague, Amy;
    • Kurian, Manju A.
    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

  • Deficient activity of alanyl-tRNA synthetase underlies an autosomal recessive syndrome of progressive microcephaly, hypomyelination, and epileptic encephalopathy.

    Published in:
    Human Mutation, 2017, v. 38, n. 10, p. 1348, doi. 10.1002/humu.23250
    By:
    • Nakayama, Tojo;
    • Wu, Jiang;
    • Galvin‐Parton, Patricia;
    • Weiss, Jody;
    • Andriola, Mary R.;
    • Hill, R. Sean;
    • Vaughan, Dylan J.;
    • El‐Quessny, Malak;
    • Barry, Brenda J.;
    • Partlow, Jennifer N.;
    • Barkovich, A. James;
    • Ling, Jiqiang;
    • Mochida, Ganeshwaran H.
    Publication type:
    Article

  • Ethnically diverse causes of Walker-Warburg syndrome (WWS): FCMD mutations are a more common cause of WWS outside of the Middle East.

    Published in:
    Human Mutation, 2008, v. 29, n. 11, p. E231, doi. 10.1002/humu.20844
    By:
    • Chiara Manzini, M.;
    • Gleason, Danielle;
    • Chang, Bernard S.;
    • Sean Hill, R.;
    • Barry, Brenda J.;
    • Partlow, Jennifer N.;
    • Poduri, Annapurna;
    • Currier, Sophie;
    • Galvin-Parton, Patricia;
    • Shapiro, Lawrence R.;
    • Schmidt, Karen;
    • Davis, Jessica G.;
    • Basel-Vanagaite, Lina;
    • Seidahmed, Mohamed Z.;
    • Salih, Mustafa A. M.;
    • Dobyns, William B.;
    • Walsh, Christopher A.
    Publication type:
    Article