Search Results - Carissa Adams

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  1. 1
    Congenital microcephaly and chorioretinopathy due to de novo heterozygous <i>KIF11</i> mutations: Five novel mutations and review of the literature

    Congenital microcephaly and chorioretinopathy due to de novo heterozygous <i>KIF11</i> mutations: Five novel mutations and review of the literature by Ghayda Mirzaa, Laura B. Enyedi, Gretchen Parsons, Sarah Collins, Līvija Medne, Carissa Adams, Thomas Ward, Bradley V. Davitt, Alma R. Bicknese, Elaine H. Zackai, Helga V. Toriello, William B. Dobyns, Susan L. Christian

    Published 2014
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  2. 2
    PI3K/AKT pathway mutations cause a spectrum of brain malformations from megalencephaly to focal cortical dysplasia

    PI3K/AKT pathway mutations cause a spectrum of brain malformations from megalencephaly to focal cortical dysplasia by Laura A. Jansen, Ghayda Mirzaa, Gisele E. Ishak, Brian J. O’Roak, Joseph B. Hiatt, William H. Roden, Sonya A. Gunter, Susan L. Christian, Sarah Collins, Carissa Adams, Jean‐Baptiste Rivière, Judith St‐Onge, Jeffrey G. Ojemann, Jay Shendure, Robert F. Hevner, William B. Dobyns

    Published 2015
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    De novo CCND2 mutations leading to stabilization of cyclin D2 cause megalencephaly-polymicrogyria-polydactyly-hydrocephalus syndrome

    De novo CCND2 mutations leading to stabilization of cyclin D2 cause megalencephaly-polymicrogyria-polydactyly-hydrocephalus syndrome by Ghayda Mirzaa, David Parry, Andrew E. Fry, Kristin A. Giamanco, Jeremy Schwartzentruber, Megan R. Vanstone, Clare V. Logan, Nicola Roberts, Colin A. Johnson, Shawn Singh, Stanislav S. Kholmanskikh, Carissa Adams, Rebecca D. Hodge, Robert F. Hevner, David T. Bonthron, Kees P. J. Braun, Laurence Faivre, Jean‐Baptiste Rivière, Judith St‐Onge, Karen W. Gripp, Grazia M.S. Mancini, Ki Pang, Elizabeth Sweeney, Hilde Van Esch, Nienke E. Verbeek, Dagmar Wieczorek, Michelle Steinraths, Jacek Majewski, Kym M. Boycott, Daniela T. Pilz, M. Elizabeth Ross, William B. Dobyns, Eamonn Sheridan

    Published 2014
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