A Novel Non-Allelic Homologous Recombination Event in a Parent with an 11;22 Reciprocal Translocation Leading to 22q11.2 Deletion Syndrome by Steven Pastor, Oanh Tran, Daniel E. McGinn, T. Blaine Crowley, Elaine H. Zackai, Donna M. McDonald-McGinn, Beverly S. Emanuel

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Language Profiles of School-Aged Children with 22q11.2 Copy Number Variants by Jente Verbesselt, Cynthia B. Solot, Ellen Van Den Heuvel, T. Blaine Crowley, Victoria Giunta, Jeroen Breckpot, Donna M. McDonald-McGinn, Inge Zink, Ann Swillen

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A case-control study of bleeding risk in children with 22q11.2 deletion syndrome undergoing cardiac surgery by T. Blaine Crowley, Ian Campbell, Abinaya Arulselvan, David Friedman, Elaine H. Zackai, Tracy R. Geoffrion, Char Witmer, J. William Gaynor, Donna M. McDonald-McGinn, Michele P. Lambert

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Influence of Parent-of-Origin on Intellectual Outcomes in the Chromosome 22q11.2 Deletion Syndrome by Daniel E. McGinn, T. Blaine Crowley, Tracy Heung, Oanh Tran, Edward Moss, Elaine H. Zackai, Beverly S. Emanuel, Eva W. C. Chow, Bernice E. Morrow, Ann Swillen, Anne S. Bassett, Donna M. McDonald-McGinn

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Genome-Wide Association Studies of Conotruncal Heart Defects with Normally Related Great Vessels in the United States by Omobola O. Oluwafemi, Fadi I. Musfee, Laura E. Mitchell, Elizabeth Goldmuntz, Hongbo M. Xie, Hakon Hakonarson, Bernice E. Morrow, Tingwei Guo, Deanne M. Taylor, Donna M. McDonald-McGinn, Beverly S. Emanuel, A. J. Agopian

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Inter-rater reliability of subthreshold psychotic symptoms in individuals with 22q11.2 deletion syndrome by Tyler M. Moore, Deby Salzer, Carrie E. Bearden, Monica E. Calkins, Wendy R. Kates, Leila Kushan, Robert Sean Gallagher, Dafna Sofrin Frumer, Ronnie Weinberger, Donna M. McDonald-McGinn, Raquel E. Gur, Doron Gothelf

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Improved Outcomes in Patients with 22q11.2 Deletion Syndrome and Diagnosis of Interrupted Aortic Arch Prior to Birth Hospital Discharge, a Retrospective Study by Hayley A. Ron, Terrence Blaine Crowley, Yichuan Liu, Marta Unolt, Erica Schindewolf, Julie Moldenhauer, Jack Rychik, Elizabeth Goldmuntz, Beverly S. Emanuel, Douglas Ryba, James William Gaynor, Elaine H. Zackai, Hakon Hakonarson, Donna M. McDonald-McGinn

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22q11.2 Deletion Syndrome as a Human Model for Idiopathic Scoliosis by Steven de Reuver, Jelle F. Homans, Tom P. C. Schlösser, Michiel L. Houben, Vincent F. X. Deeney, Terrence B. Crowley, Ralf Stücker, Saba Pasha, Moyo C. Kruyt, Donna M. McDonald-McGinn, René M. Castelein

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Gathering the Stakeholder’s Perspective: Experiences and Opportunities in Rare Genetic Disease Research by Lauren K. White, T. Blaine Crowley, Brenda Finucane, Emily J. McClellan, Sarah Donoghue, Sixto Garcia-Minaur, Gabriela M. Repetto, Matthias Fischer, Sebastien Jacquemont, Raquel E. Gur, Anne M. Maillard, Kirsten A. Donald, Anne S. Bassett, Ann Swillen, Donna M. McDonald-McGinn

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Prenatal Screening and Diagnostic Considerations for 22q11.2 Microdeletions by Natalie Blagowidow, Beata Nowakowska, Erica Schindewolf, Francesca Romana Grati, Carolina Putotto, Jeroen Breckpot, Ann Swillen, Terrence Blaine Crowley, Joanne C. Y. Loo, Lauren A. Lairson, Sólveig Óskarsdóttir, Erik Boot, Sixto Garcia-Minaur, Maria Cristina Digilio, Bruno Marino, Beverly Coleman, Julie S. Moldenhauer, Anne S. Bassett, Donna M. McDonald-McGinn

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Coexisting Conditions Modifying Phenotypes of Patients with 22q11.2 Deletion Syndrome by Marta Smyk, Maciej Geremek, Kamila Ziemkiewicz, Tomasz Gambin, Anna Kutkowska-Kaźmierczak, Katarzyna Kowalczyk, Izabela Plaskota, Barbara Wiśniowiecka-Kowalnik, Magdalena Bartnik-Głaska, Magdalena Niemiec, Dominika Grad, Małgorzata Piotrowicz, Dorota Gieruszczak-Białek, Aleksandra Pietrzyk, T. Blaine Crowley, Victoria Giunta, Daniel E. McGinn, Elaine H. Zackai, Oanh Tran, Beverly S. Emanuel, Donna M. McDonald-McGinn, Beata A. Nowakowska

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Chromatin regulators in the TBX1 network confer risk for conotruncal heart defects in 22q11.2DS by Yingjie Zhao, Yujue Wang, Lijie Shi, Donna M. McDonald-McGinn, T. Blaine Crowley, Daniel E. McGinn, Oanh T. Tran, Daniella Miller, Jhih-Rong Lin, Elaine Zackai, H. Richard Johnston, Eva W. C. Chow, Jacob A. S. Vorstman, Claudia Vingerhoets, Therese van Amelsvoort, Doron Gothelf, Ann Swillen, Jeroen Breckpot, Joris R. Vermeesch, Stephan Eliez, Maude Schneider, Marianne B. M. van den Bree, Michael J. Owen, Wendy R. Kates, Gabriela M. Repetto, Vandana Shashi, Kelly Schoch, Carrie E. Bearden, M. Cristina Digilio, Marta Unolt, Carolina Putotto, Bruno Marino, Maria Pontillo, Marco Armando, Stefano Vicari, Kathleen Angkustsiri, Linda Campbell, Tiffany Busa, Damian Heine-Suñer, Kieran C. Murphy, Declan Murphy, Sixto García-Miñaúr, Luis Fernández, International 22q11.2 Brain and Behavior Consortium (IBBC), Zhengdong D. Zhang, Elizabeth Goldmuntz, Raquel E. Gur, Beverly S. Emanuel, Deyou Zheng, Christian R. Marshall, Anne S. Bassett, Tao Wang, Bernice E. Morrow

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