Chromatin regulators in the TBX1 network confer risk for conotruncal heart defects in 22q11.2DS.
- Creator: Zhao, Yingjie , Wang, Yujue , Johnston, H. Richard , Chow, Eva W. C. , Vorstman, Jacob A. S. , Vingerhoets, Claudia , van Amelsvoort, Therese , Gothelf, Doron , Swillen, Ann , Breckpot, Jeroen , Vermeesch, Joris R. , Eliez, Stephan , Shi, Lijie , Schneider, Maude , van den Bree, MBM , Owen, MJ , Kates, WR , Repetto, GM , Shashi, V , Schoch, K , Bearden, CE , Digilio, MC , Unolt, M , McDonald-McGinn, Donna M. , Putotto, C , Marino, B , Pontillo, M , Armando, M , Vicari, S , Angkustsiri, K , Campbell, Linda , Busa, T , Heine-Suñer, D , Murphy, KC , Crowley, T. Blaine , Murphy, D , García-Miñaúr, S , Fernández, L , International 22q11.2 Brain and Behavior Consortium (IBBC), , Zhang, ZD , Goldmuntz, E , Gur, RE , Emanuel, BS , Zheng, D , Marshall, CR , McGinn, Daniel E. , Bassett, AS , Wang, T , Morrow, BE , Tran, Oanh T. , Miller, Daniella , Lin, Jhih-Rong , Zackai, Elaine
- Resource Type: journal article
- Date: 2023
TEFM variants impair mitochondrial transcription causing childhood-onset neurological disease
- Creator: Van Haute, Lindsey , O’Connor, Emily , Bonneau, Dominique , Brunetti-Pierri, Nicola , Cappuccio, Gerarda , Caruana, NikeishaJ , Dominik, Natalia , Goel, Himanshu , Helman, Guy , Houlden, Henry , Lenaers, Guy , Mention, Karine , Díaz-Maldonado, Hector , Murphy, D , Nandeesh, B , Olimpio, C , Powell, CA , Preethish-Kumar, V , Procaccio, V , Rius, R , Rebelo-Guiomar, P , Simons, C , Vengalil, S , Munro, Benjamin , Zaki, MS , Ziegler, A , Thorburn, DR , Stroud, DA , Maroofian, R , Christodoulou, J , Gustafsson, C , Nalini, A , Lochmüller, H , Minczuk, M , Polavarapu, Kiran , Horvath, R , Hock, Daniella H. , Arunachal, Gautham , Athanasiou-Fragkouli, Alkyoni , Bardhan, Mainak , Barth, Magalie
- Resource Type: journal article
- Date: 2023
Large-scale mapping of cortical alterations in 22q11.2 deletion syndrome: Convergence with idiopathic psychosis and effects of deletion size
- Creator: Sun, Daqiang , Ching, Christopher R. K. , Jonas, Rachel K. , van Amelsvoort, Therese , Bakker, Geor , Kates, Wendy R. , Antshel, Kevin M. , Fremont, Wanda , Campbell, Linda E. , McCabe, Kathryn L. , Daly, Eileen , Gudbrandsen, Maria , Lin, Amy , Murphy, Clodagh M. , Murphy, D , Craig, M , Vorstman, J , Fiksinski, A , Koops, S , Ruparel, K , Roalf, DR , Gur, RE , Schmitt, JE , Forsyth, Jennifer K. , Simon, TJ , Goodrich-Hunsaker, NJ , Durdle, CA , Bassett, AS , Chow, EWC , Butcher, NJ , Vila-Rodriguez, F , Doherty, J , Cunningham, A , van den Bree, MBM , Kushan, Leila , Linden, DEJ , Moss, H , Owen, MJ , Murphy, KC , McDonald-McGinn, DM , Emanuel, B , van Erp, TGM , Turner, JA , Thompson, PM , Bearden, CE , Vajdi, Ariana , Jalbrzikowski, Maria , Hansen, Laura , Villalon-Reina, Julio E. , Qu, Xiaoping
- Resource Type: journal article
- Date: 2020