News & Publications for:

Laura Jansen

Wide spectrum of developmental brain disorders from megalencephaly to focal cortical dysplasia and pigmentary mosaicism caused by mutations of MTOR

Posted on July 6, 2016

Mirzaa GM, Campbell CD, Solovieff N, Goold C, Jansen LA, Menon S, Timms AE, Conti V, Biag JD, Adams C, Boyle EA, Collins S, Ishak G, Poliachik S, Girisha KM, Yeung KS, Chung BHY, Rahikkala E, Gunter SA, McDaniel SS, Macmurdo CF, Bernstein JA, Martin B, Leary R, Mahan S, Liu S, Weaver M, Doesrchner M, Jhangiani S, Muzny DM, Boerwinkle E, Gibbs RA, Lupski JR, Shendure J, Saneto RP, Novotny EJ, Wilson CJ, Sellers WR, Morrissey M, Hevner RF, Ojemann JG, Guerrini R, Morphy LO, Winckler W, Dobyns WB. JAMA Neurol, 73(7):836-45. Read More

Posted in: Neurogenetics & Transcriptomics, Publications Faculty:

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

Posted on June 1, 2015

Laura A. Jansen, Ghayda M. 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. Brain. 2015 Jun;138(Pt 6):1613-28. Read More

Posted in: Neurogenetics & Transcriptomics, Publications Faculty:

Glial localization of antiquitin: implications for pyridoxine-dependent epilepsy

Posted on October 1, 2013

Laura A. Jansen, Robert F. Hevner, William H. Roden, Si Houn Hahn, Sunhee Jung, Sidney M. Gospe. Ann Neurol. 2014 Jan;75(1):22-32 Read More

Posted in: Neurogenetics & Transcriptomics, Publications Faculty: