Elaine Zackai

Elaine H. Zackai is a Professor of Pediatrics, Director of Clinical Genetics, and the Director of the Clinical Genetics Center at Children's Hospital of Philadelphia (CHOP). Provided by Wikipedia
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  1. 1
    P386: Agenesis of olfactory apparatus due to intragenic deletion of SIN3A and MAN2C1 resulting in Witteveen-Kolk syndrome

    P386: Agenesis of olfactory apparatus due to intragenic deletion of SIN3A and MAN2C1 resulting in Witteveen-Kolk syndrome by Sarah Donoghue, Cara Skraban, Jake Squicciarini, Jing Wang, Alyssa Rippert, Donna McDonald-McGinn, Elaine Zackai

    Published 2024-01-01
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  2. 2
    P249: Phenotypic findings associated with nested 22q11.2 deletions*

    P249: Phenotypic findings associated with nested 22q11.2 deletions* by Daniel McGinn, Victoria Giunta, Bekah Wang, Lauren Lairson, Audrey Green, Daniela Olt, Elaine Zackai, Oanh Tran, Beverly Emanuel, Terrence Crowley, Donna McDonald-McGinn

    Published 2023-01-01
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  3. 3
    P217: Abnormalities of TBX1 result in broad overlapping features of 22q11.2 deletion syndrome

    P217: Abnormalities of TBX1 result in broad overlapping features of 22q11.2 deletion syndrome by Donna McDonald-McGinn, Victoria Giunta, T. Blaine Crowley, Daniel McGinn, Lydia Rockart, Audrey Green, Beverly Emanuel, Rosemarie Smith, Ellen Moran, Maciej Geremek, Elaine Zackai, Beata Nowakowska

    Published 2024-01-01
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  4. 4
    P248: Is 22q11.2 deletion syndrome truly less common in Black patients?

    P248: Is 22q11.2 deletion syndrome truly less common in Black patients? by Donna McDonald-McGinn, Terrence Crowley, Daniel McGinn, Kimberly Gaiser, Victoria Giunta, Lauren Lairson, Elaine Zackai, Oanh Tran, Matt Share, Kathleen Valverde, Steven Pastor, Beverly Emanuel

    Published 2023-01-01
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  5. 5
    O43: Characterization of the prenatal renal phenotype associated with 17q12/HNF1B microdeletions

    O43: Characterization of the prenatal renal phenotype associated with 17q12/HNF1B microdeletions by Courtney Verscaj, Frances Velez-Bartolomei, Ethan Bodle, Katie Chan, Michael Lyons, Willa Thorson, Wen-Hann Tan, John Graham, Angela Peron, Fabiola Quintero-Rivera, Elaine Zackai, Mary Ann Thomas, Cathy Stevens, Margaret Adam, Lynne Bird, Marilyn Jones, Dena Matalon

    Published 2023-01-01
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  6. 6
    Childhood exposures to environmental chemicals and neurodevelopmental outcomes in congenital heart disease.

    Childhood exposures to environmental chemicals and neurodevelopmental outcomes in congenital heart disease. by J William Gaynor, Nancy B Burnham, Richard F Ittenbach, Marsha Gerdes, Judy C Bernbaum, Elaine Zackai, Daniel J Licht, William W Russell, Erin E Zullo, Thomas Miller, Hakon Hakonarson, Kayan A Clarke, Gail P Jarvik, Antonia M Calafat, Asa Bradman, David C Bellinger, Frederick M Henretig, Eric S Coker

    Published 2022-01-01
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  7. 7
    Mutations in topoisomerase IIβ result in a B cell immunodeficiency

    Mutations in topoisomerase IIβ result in a B cell immunodeficiency by Lori Broderick, Shawn Yost, Dong Li, Matthew D. McGeough, Laela M. Booshehri, Marisela Guaderrama, Susannah D. Brydges, Karolina Kucharova, Niraj C. Patel, Margaret Harr, Hakon Hakonarson, Elaine Zackai, Ian G. Cowell, Caroline A. Austin, Boris Hügle, Corinna Gebauer, Jianguo Zhang, Xun Xu, Jian Wang, Ben A. Croker, Kelly A. Frazer, Christopher D. Putnam, Hal M. Hoffman

    Published 2019-08-01
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  8. 8
    Gene domain-specific DNA methylation episignatures highlight distinct molecular entities of ADNP syndrome

    Gene domain-specific DNA methylation episignatures highlight distinct molecular entities of ADNP syndrome by Eric G. Bend, Erfan Aref-Eshghi, David B. Everman, R. Curtis Rogers, Sara S. Cathey, Eloise J. Prijoles, Michael J. Lyons, Heather Davis, Katie Clarkson, Karen W. Gripp, Dong Li, Elizabeth Bhoj, Elaine Zackai, Paul Mark, Hakon Hakonarson, Laurie A. Demmer, Michael A. Levy, Jennifer Kerkhof, Alan Stuart, David Rodenhiser, Michael J. Friez, Roger E. Stevenson, Charles E. Schwartz, Bekim Sadikovic

    Published 2019-04-01
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  9. 9
    Computer-vision analysis of craniofacial dysmorphology in 22q11.2 deletion syndrome and psychosis spectrum disorders

    Computer-vision analysis of craniofacial dysmorphology in 22q11.2 deletion syndrome and psychosis spectrum disorders by David R. Roalf, Donna M. McDonald-McGinn, Joelle Jee, Mckenna Krall, T. Blaine Crowley, Paul J. Moberg, Christian Kohler, Monica E. Calkins, Andrew J.D. Crow, Nicole Fleischer, R. Sean Gallagher, Virgilio Gonzenbach, Kelly Clark, Ruben C. Gur, Emily McClellan, Daniel E. McGinn, Arianna Mordy, Kosha Ruparel, Bruce I. Turetsky, Russell T. Shinohara, Lauren White, Elaine Zackai, Raquel E. Gur

    Published 2024-06-01
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  10. 10
    Chromatin regulators in the TBX1 network confer risk for conotruncal heart defects in 22q11.2DS

    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

    Published 2023-07-01
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