Chromatin regulators in the TBX1 network confer risk for conotruncal heart defects in 22q11.2DS.

- 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

TEFM variants impair mitochondrial transcription causing childhood-onset neurological disease

- 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

Large-scale mapping of cortical alterations in 22q11.2 deletion syndrome: Convergence with idiopathic psychosis and effects of deletion size

- 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