Publication
Complete Sequence of the 22q11.2 Allele in 1,053 Subjects with 22q11.2 Deletion Syndrome Reveals Modifiers of Conotruncal Heart Defects
Yingjie Zhao, Alexander Diacou, H. Richard Johnston, Fadi I. Musfee, Donna M. McDonald-McGinn, Daniel McGinn, T. Blaine Crowley, Gabriela M. Repetto, Ann Swillen, Jeroen Breckpot, Joris R. Vermeesch, Wendy R. Kates, M. Cristina Digilio, Marta Unolt, Bruno Marino, Maria Pontillo, Marco Armando, Fabio Di Fabio, Stefano Vicari, Marianne van den Bree, Hayley Moss, Michael J. Owen, Kieran C. Murphy, Clodagh M. Murphy, Declan Murphy, Kelly Schoch, Vandana Shashi, Flora Tassone, Tony J. Simon, Robert J. Shprintzen, Linda Campbell, Nicole Philip, Damian Heine-Suñer, Sixto García-Miñaúr, Luis Fernández, Carrie E. Bearden, Claudia Vingerhoets, Therese van Amelsvoort, Stephan Eliez, Maude Schneider, Jacob A.S. Vorstman, Doron Gothelf, Elaine Zackai, A.J. Agopian, Raquel E. Gur, Anne S. Bassett, Beverly S. Emanuel, Elizabeth Goldmuntz, Laura E. Mitchell, Tao Wang, Bernice E. Morrow, Stylianos E. Antonarakis, Massimo Biondi, Erik Boot, Elemi Breetvelt, Tiffany Busa, Nancy Butcher, Antonino Buzzanca, Miri Carmel, Isabelle Cleynen, David Cutler, Bruno Dallapiccola, María Angeles de la Fuente Sanches, Michael P. Epstein, Rens Evers, Luis Fernandez, Rosemarie Fritsch, Fernando García Algas, Tingwei Guo, Raquel Gur, Matthew S. Hestand, Tracy Heung, Stephen Hooper, Andrea Jin, Leila Kushan-Wells, Alejandra Teresa Laorden-Nieto, Guido Lattanzi, Christian Marshall, Kathryn McCabe, Elena Michaelovsky, Claudia Ornstein, Candice Silversides, Oanh Tran, Esther D.A. van Duin, Elfi Vergaelen, Steve T. Warren, Ronnie Weinberger, Abraham Weizman, Zhengdong Zhang, Michael Zwick
The American Journal of Human Genetics, January 2020, Elsevier
DOI: 10.1016/j.ajhg.2019.11.010