Interrupção do arco aórtico tipo B em uma paciente com síndrome de olho de gato Interrupción del arco aórtico tipo B en una paciente con síndrome del ojo de gato Interrupted aortic... by Sintia Iole Nogueira Belangero, Fernanda Teixeira da Silva Bellucco, Mirlene C. S. P. Cernach, April M. Hacker, Beverly S. Emanuel, Maria Isabel Melaragno

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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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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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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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Relationship between intelligence quotient measures and computerized neurocognitive performance in 22q11.2 deletion syndrome by Ruben C. Gur, Tyler M. Moore, Ronnie Weinberger, Ehud Mekori‐Domachevsky, Raz Gross, Beverly S. Emanuel, Elaine H. Zackai, Edward Moss, Robert Sean Gallagher, Daniel E. McGinn, Terrence Blaine Crowley, Donna McDonald‐McGinn, Doron Gothelf, Raquel E. Gur

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MitoScape: A big-data, machine-learning platform for obtaining mitochondrial DNA from next-generation sequencing data. by Larry N Singh, Brian Ennis, Bryn Loneragan, Noah L Tsao, M Isabel G Lopez Sanchez, Jianping Li, Patrick Acheampong, Oanh Tran, Ian A Trounce, Yuankun Zhu, Prasanth Potluri, Regeneron Genetics Center, Beverly S Emanuel, Daniel J Rader, Zoltan Arany, Scott M Damrauer, Adam C Resnick, Stewart A Anderson, Douglas C Wallace

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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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Disrupted anatomic networks in the 22q11.2 deletion syndrome by J. Eric Schmitt, MD PhD, James Yi, MD PhD, Monica E. Calkins, PhD, Kosha Ruparel, MS, David R. Roalf, PhD, Amy Cassidy, MS, Margaret C. Souders, PhD CRNP, Theodore D. Satterthwaite, MD MA, Donna M. McDonald-McGinn, MS CGC, Elaine H. Zackai, MD, Ruben C. Gur, PhD, Beverly S. Emanuel, PhD, Raquel E. Gur, MD PhD

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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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