参考文章(8)
Ingrid E. Scheffer, Sarah E. Heron, Brigid M. Regan, Simone Mandelstam, Douglas E. Crompton, Bree L. Hodgson, Laura Licchetta, Federica Provini, Francesca Bisulli, Lata Vadlamudi, Jozef Gecz, Alan Connelly, Paolo Tinuper, Michael G. Ricos, Samuel F. Berkovic, Leanne M. Dibbens, Mutations in mammalian target of rapamycin regulator DEPDC5 cause focal epilepsy with brain malformations. Annals of Neurology. ,vol. 75, pp. 782- 787 ,(2014) , 10.1002/ANA.24126
Ghayda M Mirzaa, Valerio Conti, Andrew E Timms, Christopher D Smyser, Sarah Ahmed, Melissa Carter, Sarah Barnett, Robert B Hufnagel, Amy Goldstein, Yoko Narumi-Kishimoto, Carissa Olds, Sarah Collins, Kathreen Johnston, Jean-François Deleuze, Patrick Nitschké, Kathryn Friend, Catharine Harris, Allison Goetsch, Beth Martin, Evan August Boyle, Elena Parrini, Davide Mei, Lorenzo Tattini, Anne Slavotinek, Ed Blair, Christopher Barnett, Jay Shendure, Jamel Chelly, William B Dobyns, Renzo Guerrini, Characterisation of mutations of the phosphoinositide-3-kinase regulatory subunit, PIK3R2, in perisylvian polymicrogyria: a next-generation sequencing study Lancet Neurology. ,vol. 14, pp. 1182- 1195 ,(2015) , 10.1016/S1474-4422(15)00278-1
Sima Kheradmand Kia, Elly Verbeek, Erik Engelen, Rachel Schot, Raymond A. Poot, Irenaeus F.M. de Coo, Maarten H. Lequin, Cathryn J. Poulton, Farzin Pourfarzad, Frank G. Grosveld, António Brehm, Marie Claire Y. de Wit, Renske Oegema, William B. Dobyns, Frans W. Verheijen, Grazia M.S. Mancini, RTTN Mutations Link Primary Cilia Function to Organization of the Human Cerebral Cortex American Journal of Human Genetics. ,vol. 91, pp. 533- 540 ,(2012) , 10.1016/J.AJHG.2012.07.008
Julie Chen, Victoria Tsai, Whitney E. Parker, Eleonora Aronica, Marianna Baybis, Peter B. Crino, Detection of Human Papillomavirus in Human Focal Cortical Dysplasia Type IIB Annals of Neurology. ,vol. 72, pp. 881- 892 ,(2012) , 10.1002/ANA.23795
Martin B. Delatycki, Peter B. Crino, Samuel F. Berkovic, Ingrid E. Scheffer, Melanie Bahlo, Paul J. Lockhart, Richard J. Leventer, Thomas Scerri, Jessica R. Riseley, Greta Gillies, Kate Pope, Rosemary Burgess, Simone A. Mandelstam, Leanne Dibbens, Chung W. Chow, Wirginia Maixner, Anthony Simon Harvey, Graeme D. Jackson, David J. Amor, Familial cortical dysplasia type IIA caused by a germline mutation in DEPDC5 Annals of clinical and translational neurology. ,vol. 2, pp. 575- 580 ,(2015) , 10.1002/ACN3.191
Renzo Guerrini, William B Dobyns, Malformations of cortical development: clinical features and genetic causes Lancet Neurology. ,vol. 13, pp. 710- 726 ,(2014) , 10.1016/S1474-4422(14)70040-7
Saumya S. Jamuar, Anh-Thu N. Lam, Martin Kircher, Alissa M. D’Gama, Jian Wang, Brenda J. Barry, Xiaochang Zhang, Robert Sean Hill, Jennifer N. Partlow, Aldo Rozzo, Sarah Servattalab, Bhaven K. Mehta, Meral Topcu, Dina Amrom, Eva Andermann, Bernard Dan, Elena Parrini, Renzo Guerrini, Ingrid E. Scheffer, Samuel F. Berkovic, Richard J. Leventer, Yiping Shen, Bai Lin Wu, A. James Barkovich, Mustafa Sahin, Bernard S. Chang, Michael Bamshad, Deborah A. Nickerson, Jay Shendure, Annapurna Poduri, Timothy W. Yu, Christopher A. Walsh, Somatic Mutations in Cerebral Cortical Malformations The New England Journal of Medicine. ,vol. 371, pp. 733- 743 ,(2014) , 10.1056/NEJMOA1314432
Michael A. Lodato, Mollie B. Woodworth, Semin Lee, Gilad D. Evrony, Bhaven K. Mehta, Amir Karger, Soohyun Lee, Thomas W. Chittenden, Alissa M. D’Gama, Xuyu Cai, Lovelace J. Luquette, Eunjung Lee, Peter J. Park, Christopher A. Walsh, Somatic mutation in single human neurons tracks developmental and transcriptional history. Science. ,vol. 350, pp. 94- 98 ,(2015) , 10.1126/SCIENCE.AAB1785