De Novo Mutations in SIK1 Cause a Spectrum of Developmental Epilepsies

Autor Hansen, Jeanne, Snow, Chelsi, Tuttle, Emily, Ghoneim, Dalia H., Yang, Chun-Song, Spencer, Adam, Gunter, Sonya A., Smyser, Christopher D., Gurnett, Christina A., Shinawi, Marwan, Dobyns, William B., Wheless, James, Halterman, Marc W., Jansen, Laura A., Paschal, Bryce M., Paciorkowski, Alex R.
Vydáno v Am J Hum Genet (2015)

De Novo Mutations in SIK1 Cause a Spectrum of Developmental Epilepsies

Autor Hansen, Jeanne, Snow, Chelsi, Tuttle, Emily, Ghoneim, Dalia H., Yang, Chun-Song, Spencer, Adam, Gunter, Sonya A., Smyser, Christopher D., Gurnett, Christina A., Shinawi, Marwan, Dobyns, William B., Wheless, James, Halterman, Marc W., Jansen, Laura A., Paschal, Bryce M., Paciorkowski, Alex R.
Vydáno v Am J Hum Genet (2015)

Novel mutations in ATP1A3 associated with catastrophic early life epilepsy, episodic prolonged apnea, and postnatal microcephaly

Autor Paciorkowski, Alex R., McDaniel, Sharon S., Jansen, Laura A., Tully, Hannah, Tuttle, Emily, Ghoneim, Dalia H., Tupal, Srinivasan, Gunter, Sonya A., Vasta, Valeria, Zhang, Qing, Tran, Thao, Liu, Yi B., Ozelius, Laurie J., Brashear, Allison, Sweadner, Kathleen J., Dobyns, William B., Hahn, Si Houn
Vydáno v Epilepsia (2015)

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

Autor Jansen, Laura A., Mirzaa, Ghayda M., Ishak, Gisele E., O'Roak, Brian J., Hiatt, Joseph B., Roden, William H., Gunter, Sonya A., Christian, Susan L., Collins, Sarah, Adams, Carissa, Rivière, Jean-Baptiste, St-Onge, Judith, Ojemann, Jeffrey G., Shendure, Jay, Hevner, Robert F., Dobyns, William B.
Vydáno v Brain (2015)

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

Autor Mirzaa, Ghayda M., Campbell, Catarina D., Solovieff, Nadia, Goold, Carleton, Jansen, Laura A., Menon, Suchithra, Timms, Andrew E., Conti, Valerio, Biag, Jonathan D., Adams, Carissa, Boyle, Evan August, Collins, Sarah, Ishak, Gisele, Poliachik, Sandra, Girisha, Katta M., Yeung, Kit San, Chung, Brian Hon Yin, Rahikkala, Elisa, Gunter, Sonya A., McDaniel, Sharon S., Macmurdo, Colleen Forsyth, Bernstein, Jonathan A., Martin, Beth, Leary, Rebecca, Mahan, Scott, Liu, Shanming, Weaver, Molly, Doerschner, Michael, Jhangiani, Shalini, Muzny, Donna M., Boerwinkle, Eric, Gibbs, Richard A., Lupski, James R., Shendure, Jay, Saneto, Russell P., Novotny, Edward J., Wilson, Christopher J., Sellers, William R., Morrissey, Michael, Hevner, Robert F., Ojemann, Jeffrey G., Guerrini, Renzo, Murphy, Leon O., Winckler, Wendy, Dobyns, William B.
Vydáno v JAMA Neurol (2016)