Complete loss of the X-linked gene CASK causes severe cerebellar degeneration
Patel, Paras A, Hegert, Julia V, Cristian, Ingrid, Kerr, Alicia, LaConte, Leslie E W, Fox, Michael A, Srivastava, Sarika, Mukherjee, Konark
Published in Journal of medical genetics (01.11.2022)
Published in Journal of medical genetics (01.11.2022)
Get full text
Journal Article
Genomic analysis of diffuse intrinsic pontine gliomas identifies three molecular subgroups and recurrent activating ACVR1 mutations
Buczkowicz, Pawel, Hoeman, Christine, Rakopoulos, Patricia, Pajovic, Sanja, Letourneau, Louis, Dzamba, Misko, Morrison, Andrew, Lewis, Peter, Bouffet, Eric, Bartels, Ute, Zuccaro, Jennifer, Agnihotri, Sameer, Ryall, Scott, Barszczyk, Mark, Chornenkyy, Yevgen, Bourgey, Mathieu, Bourque, Guillaume, Montpetit, Alexandre, Cordero, Francisco, Castelo-Branco, Pedro, Mangerel, Joshua, Tabori, Uri, Ho, King Ching, Huang, Annie, Taylor, Kathryn R, Mackay, Alan, Bendel, Anne E, Nazarian, Javad, Fangusaro, Jason R, Karajannis, Matthias A, Zagzag, David, Foreman, Nicholas K, Donson, Andrew, Hegert, Julia V, Smith, Amy, Chan, Jennifer, Lafay-Cousin, Lucy, Dunn, Sandra, Hukin, Juliette, Dunham, Chris, Scheinemann, Katrin, Michaud, Jean, Zelcer, Shayna, Ramsay, David, Cain, Jason, Brennan, Cameron, Souweidane, Mark M, Jones, Chris, Allis, C David, Brudno, Michael, Becher, Oren, Hawkins, Cynthia
Published in Nature genetics (01.05.2014)
Published in Nature genetics (01.05.2014)
Get full text
Journal Article