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Demaerel, Wolfram, Hestand, Matthew S., Breckpot, Jeroen, Devriendt, Koenraad, Vermeesch, Joris R., International 22q11.2 Brain and Behavior Consortium,, Campbell, Linda, , , , , , Vergaelen, Elfi, , , , , , , , , , , Swillen, Ann, , , , , , , , , , , López-Sánchez, Marcos, , , , , , , , , , , Pérez-Jurado, Luis A., , , , , , , , , , , McDonald-McGinn, Donna M., , , , , , , , , , , Zackai, Elaine, , , , , , , , , , , Emanuel, Beverly S., , , , , , , , , , , Morrow, Bernice E., . Cell Press; 2017. Nested inversion polymorphisms predispose chromosome 22q11.2 to meiotic rearrangements.
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. Nature Publishing Group; 2023. Chromatin regulators in the TBX1 network confer risk for conotruncal heart defects in 22q11.2DS..
Zhao, Yingjie, Diacou, Alexander, Johnston, H. Richard, Musfee, Fadi I., McDonald-McGinn, Donna M., McGinn, Daniel, Crowley, T. Blaine, Repetto, Gabriela M., Swillen, Ann, Breckpot, Jeroen, Vermeesch, Joris R., Kates, Wendy R., Digilio, M. Cristina, Unolt, Marta, Marino, Bruno, Pontillo, Maria, Armando, Marco, Di Fabio, Fabio, Vicari, Stefano, van den Bree, Marianne, Campbell, Linda, Moss, Hayley, Owen, Michael J., Murphy, Kieran C., Murphy, Clodagh M., Murphy, Declan, Schoch, Kelly, Shashi, Vandana, Tassone, Flora, Simon, Tony J., Shprintzen, Robert J., Philip, Nicole, Heine-Suñer, Damian, García-Miñaúr, Sixto, Fernández, Luis, Antonarakis, Stylianos E., Biondi, Massimo, Boot, Erik, Breetvelt, Elemi, Busa, Tiffany, Butcher, Nancy, Buzzanca, Antonino, Carmel, Miri, Cleynen, Isabelle, Cutler, David, Dallapiccola, Bruno, de la Fuente Sanches, Maria Angeles, Epstein, Michael P., Evers, Rens, Fernandez, L, Fritsch, Rosemarie, Algas, Fernando Garcia, Guo, Tingwei, Gur, Raquel, Hestand, Matthew S., Heung, Tracy, Hooper, Stephen, Jin, Andrea, Kushan-Wells, Leila, Laorden-Nieto, Alejandra Terese, Lattanzi, Guido, Marshall, Christian, McCabe, Kathryn, Michaelovsky, Elena, Ornstein, Claudia, Silversides, Candice, Tran, Oanh, van Duin, Esther D. A., Vergaelen, Elfi, Warren, Steve T., Weinberger, Ronnie, Weizman, Abraham, Zhang, Zhengdong, Zwick, Michael, Bearden, Carrie E., Vingerhoets, Claudia, van Amelsvoort, Therese, Eliez, Stephan, Schneider, Maude, Vorstman, Jacob A. S., Gothelf, Doron, Zackai, Elaine, Agopian, A. J., Gur, Raquel E., Bassett, Anne S., Emanuel, Beverly S., Goldmuntz, Elizabeth, Mitchell, Laura E., Wang, Tao, Morrow, Bernice E.. Cell Press; 2020. Complete sequence of the 22q11.2 allele in 1,053 subjects with 22q11.2 deletion syndrome reveals modifiers of conotruncal heart defects.