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Conserved transcriptional regulation by BRN1 and BRN2 in neocortical progenitors drives mammalian neural specification and neocortical expansion Barao, Soraia; Xu, Yijun; Llongueras, Jose P.; Vistein, Rachel; Goff, Loyal; Nielsen, Kristina J.; Bae, Byoung-Il; Smith, Richard S.; Walsh, Christopher A.; Stein-O'Brien, Genevieve; Muller, Ulrich 分享 收藏
Spatial consistency of cell growth direction during organ morphogenesis requires CELLULOSE SYNTHASE INTERACTIVE1 Mollier, Corentin; Skrzyde, Joanna; Borowska-Wykre, Dorota; Majda, Mateusz; Bayle, Vincent; Battu, Virginie; Totozafy, Jean-Chrisologue; Dulski, Mateusz; Fruleux, Antoine; Wrzalik, Roman; Mouille, Gregory; Smith, Richard S.; Moneger, Francoise; Kwiatkowska, Dorota; Boudaoud, Arezki 分享 收藏
Targeted disruption of the myocilin gene (Myoc) suggests that human glaucoma-causing mutations are gain of function Kim, BS; Savinova, OV; Reedy, MV; Martin, J; Lun, Y; Gan, L; Smith, RS; Tomarev, SI; John, SWM; Johnson, RL 分享 收藏
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Similar Rates of Deleterious Copy Number Variants in Early-Onset Psychosis and Autism Spectrum Disorder Brownstein, Catherine A.; Douard, Elise; Mollon, Josephine; Smith, Richard; Hojlo, Margaret A.; Das, Ananth; Goldman, Maria; Garvey, Emily; Cabral, Kristin; Li, Jianqiao; Bowen, Joshua; Rao, Abhijit S.; Genetti, Casie; Carroll, Devon; Knowles, Emma E. M.; Deaso, Emma; Agrawal, Pankaj B.; Beggs, Alan H.; D'Angelo, Eugene; Almasy, Laura; Alexander-Bloch, Aaron; Saci, Zohra; Moreau, Clara A.; Huguet, Guillaume; Deo, Anthony J.; Jacquemont, Sebastien; Glahn, David C.; Gonzalez-Heydrich, Joseph 分享 收藏
Loss of non-motor kinesin KIF26A causes congenital brain malformations via dysregulated neuronal migration and axonal growth as well as apoptosis Qian, Xuyu; DeGennaro, Ellen M.; Talukdar, Maya; Akula, Shyam K.; Lai, Abbe; Shao, Diane D.; Gonzalez, Dilenny; Marciano, Jack H.; Smith, Richard S.; Hylton, Norma K.; Yang, Edward; Bazan, J. Fernando; Barrett, Lee; Yeh, Rebecca C.; Hill, R. Sean; Beck, Samantha G.; Otani, Aoi; Angad, Jolly; Mitani, Tadahiro; Posey, Jennifer E.; Pehlivan, Davut; Calame, Daniel; Aydin, Hatip; Yesilbas, Osman; Parks, Kendall C.; Argilli, Emanuela; England, Eleina; Im, Kiho; Taranath, Ajay; Scott, Hamish S.; Barnett, Christopher P.; Arts, Peer; Sherr, Elliott H.; Lupski, James R.; Walsh, Christopher A. 分享 收藏
Early role for a Na+,K+-ATPase (ATP1A3) in brain development Smith, Richard S.; Florio, Marta; Akula, Shyam K.; Neil, Jennifer E.; Wang, Yidi; Hill, R. Sean; Goldman, Melissa; Mullally, Christopher D.; Reed, Nora; Bello-Espinosa, Luis; Flores-Sarnat, Laura; Monteiro, Fabiola Paoli; Erasmo, Casella B.; Pinto, Filippo; Morava, Eva; Barkovich, A. James; Gonzalez-Heydrich, Joseph; Brownstein, Catherine A.; McCarroll, Steven A.; Walsh, Christopher A. 分享 收藏
A recurrent, homozygous EMC10 frameshift variant is associated with a syndrome of developmental delay with variable seizures and dysmorphic features Shao, Diane D.; Straussberg, Rachel; Ahmed, Hind; Khan, Amjad; Tian, Songhai; Hill, R. Sean; Smith, Richard S.; Majmundar, Amar J.; Ameziane, Najim; Neil, Jennifer E.; Yang, Edward; Al Tenaiji, Amal; Jamuar, Saumya S.; Schlaeger, Thorsten M.; Al-Saffar, Muna; Hovel, Iris; Al-Shamsi, Aisha; Basel-Salmon, Lina; Amir, Achiya Z.; Rento, Lariza M.; Lim, Jiin Ying; Ganesan, Indra; Shril, Shirlee; Evrony, Gilad; Barkovich, A. James; Bauer, Peter; Hildebrandt, Friedhelm; Dong, Min; Borck, Guntram; Beetz, Christian; Al-Gazali, Lihadh; Eyaid, Wafaa; Walsh, Christopher A. 分享 收藏
16p11.2 deletion is associated with hyperactivation of human iPSC-derived dopaminergic neuron networks and is rescued by RHOA inhibition in vitro Sundberg, Maria; Pinson, Hannah; Smith, Richard S.; Winden, Kellen D.; Venugopal, Pooja; Tai, Derek J. C.; Gusella, James F.; Talkowski, Michael E.; Walsh, Christopher A.; Tegmark, Max; Sahin, Mustafa 分享 收藏
RCL1 copy number variants are associated with a range of neuropsychiatric phenotypes Brownstein, Catherine A.; Smith, Richard S.; Rodan, Lance H.; Gorman, Mark P.; Hojlo, Margaret A.; Garvey, Emily A.; Li, Jianqiao; Cabral, Kristin; Bowen, Joshua J.; Rao, Abhijit S.; Genetti, Casie A.; Carroll, Devon; Deaso, Emma A.; Agrawal, Pankaj B.; Rosenfeld, Jill A.; Bi, Weimin; Howe, Jennifer; Stavropoulos, Dimitri J.; Hansen, Adam W.; Hamoda, Hesham M.; Pinard, Ferne; Caracansi, Annmarie; Walsh, Christopher A.; D'Angelo, Eugene J.; Beggs, Alan H.; Zarrei, Mehdi; Gibbs, Richard A.; Scherer, Stephen W.; Glahn, David C.; Gonzalez-Heydrich, Joseph 分享 收藏
Regulation of human cerebral cortical development by EXOC7 and EXOC8, components of the exocyst complex, and roles in neural progenitor cell proliferation and survival Coulter, Michael E.; Musaev, Damir; DeGennaro, Ellen M.; Zhang, Xiaochang; Henke, Katrin; James, Kiely N.; Smith, Richard S.; Hill, R. Sean; Partlow, Jennifer N.; Muna Al-Saffar; Kamumbu, A. Stacy; Hatem, Nicole; Barkovich, A. James; Aziza, Jacqueline; Chassaing, Nicolas; Zaki, Maha S.; Sultan, Tipu; Burglen, Lydie; Rajab, Anna; Al-Gazali, Lihadh; Mochida, Ganeshwaran H.; Harris, Matthew P.; Gleeson, Joseph G.; Walsh, Christopher A. 分享 收藏
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Sodium Channel SCN3A (NaV1.3) Regulation of Human Cerebral Cortical Folding and Oral Motor Development Smith, Richard S.; Kenny, Connor J.; Ganesh, Vijay; Jang, Ahram; Borges-Monroy, Rebeca; Partlow, Jennifer N.; Hill, R. Sean; Shin, Taehwan; Chen, Allen Y.; Doan, Ryan N.; Anttonen, Anna-Kaisa; Ignatius, Jaakko; Medne, Livija; Bonnemann, Carsten G.; Hecht, Jonathan L.; Salonen, Oili; Barkovich, A. James; Poduri, Annapurna; Wilke, Martina; de Wit, Marie Claire Y.; Mancini, Grazia M. S.; Sztriha, Laszlo; Im, Kiho; Amrom, Dina; Andermann, Eva; Paetau, Ritva; Lehesjoki, Anna-Elina; Walsh, Christopher A.; Lehtinen, Maria K. 分享 收藏
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