Search Results - Danielle Gleason

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  1. 1
    A Truncating Mutation of TRAPPC9 Is Associated with Autosomal-Recessive Intellectual Disability and Postnatal Microcephaly

    A Truncating Mutation of TRAPPC9 Is Associated with Autosomal-Recessive Intellectual Disability and Postnatal Microcephaly by Ganeshwaran H. Mochida, Muhammad Mahajnah, Anthony D. Hill, Lina Basel‐Vanagaite, Danielle Gleason, Robert Hill, Adria Bodell, Moira Crosier, Rachel Straussberg, Christopher A. Walsh

    Published 2009
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  2. 2
    A Homozygous Mutation in the Tight-Junction Protein JAM3 Causes Hemorrhagic Destruction of the Brain, Subependymal Calcification, and Congenital Cataracts

    A Homozygous Mutation in the Tight-Junction Protein JAM3 Causes Hemorrhagic Destruction of the Brain, Subependymal Calcification, and Congenital Cataracts by Ganeshwaran H. Mochida, Vijay Ganesh, Jillian M. Felie, Danielle Gleason, R. Sean Hill, Katharine Clapham, Daniel P. Rakiec, Wen‐Hann Tan, Nadia Akawi, Muna Al‐Saffar, Jennifer N. Partlow, Sigrid Tinschert, A. James Barkovich, Bassam R. Ali, Lihadh Al‐Gazali, Christopher A. Walsh

    Published 2010
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  3. 3
    Mutations in PNKP cause microcephaly, seizures and defects in DNA repair

    Mutations in PNKP cause microcephaly, seizures and defects in DNA repair by Jun Shen, Edward C. Gilmore, Christine A Marshall, Mary Haddadin, John J. Reynolds, Wafaa Eyaid, Adria Bodell, Brenda J. Barry, Danielle Gleason, Kathryn Allen, Vijay Ganesh, Bernard S. Chang, Arthur Grix, Robert Hill, Meral Topçu, Keith W. Caldecott, A. James Barkovich, Christopher A. Walsh

    Published 2010
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  4. 4
    Ethnically diverse causes of Walker-Warburg syndrome (WWS):<i>FCMD</i>mutations are a more common cause of WWS outside of the Middle East

    Ethnically diverse causes of Walker-Warburg syndrome (WWS):<i>FCMD</i>mutations are a more common cause of WWS outside of the Middle East by M. Chiara Manzini, Danielle Gleason, Bernard S. Chang, Robert Hill, Brenda J. Barry, Jennifer N. Partlow, Annapurna Poduri, Sophie Currier, Patricia Galvin‐Parton, Lawrence R. Shapiro, Karen Schmidt, Jessica G. Davis, Lina Basel‐Vanagaite, Mohamed Z. Seidahmed, Mustafa A. Salih, William B. Dobyns, Christopher A. Walsh

    Published 2008
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  5. 5
    CC2D1A Regulates Human Intellectual and Social Function as well as NF-κB Signaling Homeostasis

    CC2D1A Regulates Human Intellectual and Social Function as well as NF-κB Signaling Homeostasis by M. Chiara Manzini, Lan Xiong, Ranad Shaheen, Dimira Tambunan, Stefania Di Costanzo, Vanessa Mitisalis, David J. Tischfield, Antonella Cinquino, Mohammed Ghaziuddin, Mehtab Christian, Qin Jiang, Sandra B. Laurent, Zohair Nanjiani, Saima Rasheed, Robert Hill, Sofia B. Lizarraga, Danielle Gleason, M. Diya Sabbagh, Mustafa A. Salih, Fowzan S. Alkuraya, Christopher A. Walsh

    Published 2014
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  6. 6
    CHMP1A encodes an essential regulator of BMI1-INK4A in cerebellar development

    CHMP1A encodes an essential regulator of BMI1-INK4A in cerebellar development by Ganeshwaran H. Mochida, Vijay Ganesh, María I. de Michelena, Hugo Dias, Kutay Deniz Atabay, Katie L. Kathrein, Hsuan-Ting Huang, Robert Hill, Jillian M. Felie, Daniel P. Rakiec, Danielle Gleason, Anthony D. Hill, Athar N. Malik, Brenda J. Barry, Jennifer N. Partlow, Wen‐Hann Tan, Laurie Glader, A. James Barkovich, William B. Dobyns, Leonard I. Zon, Christopher A. Walsh

    Published 2012
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  7. 7
    Identifying Autism Loci and Genes by Tracing Recent Shared Ancestry

    Identifying Autism Loci and Genes by Tracing Recent Shared Ancestry by Eric M. Morrow, Seung-Yun Yoo, Steven W. Flavell, Tae-Kyung Kim, Yingxi Lin, Robert Hill, Nahit Motavallı Mukaddes, Soher Balkhy, Generoso G. Gascon, Asif Hashmi, Samira Al-Saad, Janice Ware, Robert M. Joseph, Rachel Greenblatt, Danielle Gleason, Julia A. Ertelt, Kira Apse, Adria Bodell, Jennifer N. Partlow, Brenda J. Barry, Hui Yao, Kyriacos Markianos, Russell J. Ferland, Michael E. Greenberg, Christopher A. Walsh

    Published 2008
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