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
Using common genetic variation to examine phenotypic expression and risk prediction in 22q11.2 deletion syndrome
- Creator: 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.
- Resource Type: journal article
- Date: 2020
Variance of IQ is partially dependent on deletion type among 1,427 22q11.2 deletion syndrome subjects
- Creator: 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
- Resource Type: journal article
- Date: 2018