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
A normative chart for cognitive development in a genetically selected population
- Creator: Fiksinski, Ania M. , Bearden, Carrie E. , Morrow, Bernice , Gur, Raquel , Chow, Eva , van den Bree, Marianne , Vermeesch, Joris , Warren, Stephen , Owen, Michael , van Amelsvoort, Therese , Eliez, Stephan , Gothelf, Doron , Bassett, Anne S. , Arango, Celso , Kates, W , Simon, T , Murphy, K , Repetto, G , Suner, DH , Vicari, S , Cubells, J , Armando, M , Philip, N , Kahn, René S. , Campbell, Linda , Garcia-Minaur, S , Schneider, M , Shashi, V , 22q11DS International Consortium on Brain and Behavior , Vorstman, J , Breetvelt, EJ , Zinkstok, Janneke R. , Hooper, Stephen R. , Tempelaar, Wanda , McDonald-McGinn, Donna , Swillen, Ann , Emanuel, Beverly
- Resource Type: journal article
- Date: 2022
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