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
Complete sequence of the 22q11.2 allele in 1,053 subjects with 22q11.2 deletion syndrome reveals modifiers of conotruncal heart defects
- Creator: 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.
- Resource Type: journal article
- Date: 2020
Nested inversion polymorphisms predispose chromosome 22q11.2 to meiotic rearrangements
- Creator: 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.
- Resource Type: journal article
- Date: 2017