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

An HNRNPK-specific DNA methylation signature makes sense of missense variants and expands the phenotypic spectrum of Au-Kline syndrome

- Choufani, Sanaa, McNiven, Vanda, Aul, Ritu B., Castiglioni, Claudia, Breckpot, Jeroen, Devriendt, Koen, Stewart, Helen, Banos-Pinero, Benito, Mehta, Sarju, Sandford, Richard, Dunn, Carolyn, Mathevet, Remi, Cytrynbaum, Cheryl, Dudding-Byth, Tracy, Piard, J, Brischoux-Boucher, E, Vitobello, A, Faivre, L, Bournez, M, Tran-Mau, F, Maystadt, I, Fernandez-Jaen, A, Alvarez, S, Jangjoo, Maryam, Garcia-Prieto, ID, Alkuraya, FS, Alsaif, HS, Rahbeeni, Z, El-Akouri, K, Al-Mureikhi, M, Spillmann, RC, Shashi, V, Sanchez-Lara, PA, Graham, JM, Adam, Margaret P., Roberts, A, Chorin, O, Evrony, GD, Kraatari-Tiri, M, Dudding-Byth, T, Richardson, A, Hunt, D, Hamilton, L, Dyack, S, Mendelsohn, BA, Bjornsson, Hans T., Rodriguez, N, Sanchez-Martinez, R, Tenorio-Castano, J, Nevado, J, Lapunzina, P, Tirado, P, Rodrigues, M-TCA, Quteineh, L, Innes, AM, Kline, AD, Harris, Jacqueline, Au, PYB, Weksberg, R, Dyment, David A., Graham, Gail E., Nezarati, Marjan M.

Complete sequence of the 22q11.2 allele in 1,053 subjects with 22q11.2 deletion syndrome reveals modifiers of conotruncal heart defects

- 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.

Using common genetic variation to examine phenotypic expression and risk prediction in 22q11.2 deletion syndrome

- Davies, Robert W., Fiksinski, Ania M., McDonald-McGinn, Donna M., Swillen, Ann, Chow, Eva W. C., van den Bree, Marianne, Emanuel, Beverly S., Vermeesch, Joris R., van Amelsvoort, Therese, Arango, Celso, Armando, Marco, Campbell, Linda E., Breetvelt, Elemi J., Cubells, Joseph F., Eliez, Stephan, Garcia-Minaur, Sixto, Gothelf, Doron, Kates, Wendy R., Murphy, Kieran C., Murphy, Clodagh M., Murphy, Declan G., Philip, Nicole, Repetto, Gabriela M., Williams, Nigel M., Shashi, Vandana, Simon, Tony J., Suñer, Damiàn Heine, Vicari, Stefano, Scherer, Stephen W., Epstein, Michael P., Warren, Stephen T., Morrison, Sinead, Chawner, Samuel, Vingerhoets, Claudia, Hooper, Stephen R., Breckpot, Jeroen, Vergaelen, Elfi, Vogels, Annick, Monks, Stephen, Prasad, Sarah E., Sandini, Corrado, Schneider, Maude, Maeder, Johanna, Fraguas, David, Evers, Rens, Monfeuga, Thomas, Tassone, Flora, Morey-Canyelles, Jaume, Ousley, Opal Y., Antshel, Kevin M., Fremont, Wanda, Fritsch, Rosemarie, Ornstein, Claudia, Daly, Eileen M., Costain, Gregory A., Boot, Erik, Bassett, Anne S., Heung, Tracy, Crowley, T. Blaine, Zackai, Elaine H., Calkins, Monica E., Gur, Ruben C., McCabe, Kathryn L., Busa, Tiffany, Schoch, Kelly, Pontillo, Maria, Duijff, Sasja N., Owen, Michael J., Kahn, René S., Houben, Michiel, Kushan, Leila, Jalbrzikowski, Maria, Carmel, Miri, Mekori-Domachevsky, Ehud, Michaelovsky, Elena, Weinberger, Ronnie, Bearden, Carrie E., Vorstman, Jacob A. S., Gur, Raquel E., Morrow, Bernice E.

Variance of IQ is partially dependent on deletion type among 1,427 22q11.2 deletion syndrome subjects

- Zhao, Yingjie, Guo, Tingwei, Breckpot, Jeroen, Vermeesch, Joris, Chow, Eva W. C., Gothelf, Doron, Duijff, Sasja, Evers, Rens, van Amelsvoort, Thérèse, van den Bree, Marianne, Owen, Michael, Niarchou, Maria, Fiksinski, Ania, Campbell, Linda, Breetvelt, Elemi, McDonald-McGinn, Donna M., Crowley, Terrence B., Diacou, Alexander, Schneider, Maude, Eliez, Stephan, Swillen, Ann

Nested inversion polymorphisms predispose chromosome 22q11.2 to meiotic rearrangements

- 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.