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
An HNRNPK-specific DNA methylation signature makes sense of missense variants and expands the phenotypic spectrum of Au-Kline syndrome
- Creator: 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.
- Resource Type: journal article
- Date: 2022
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
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