De Novo Truncating Variants in ASXL2 Are Associated with a Unique and Recognizable Clinical Phenotype

Vandana Shashi, Loren D.M. Pena, Katherine Kim, Barbara Burton, Maja Hempel, Kelly Schoch, Magdalena Walkiewicz, Heather M. McLaughlin, Megan Cho, Nicholas Stong, Scott E. Hickey, Christine M. Shuss, A. Bacino, Brendan H. Lee, Ashok Balasubramanyam, Lindsay C. Burrage, Gary D. Clark, William J. Craigen, Shweta U. Dhar, Lisa T. EmrickBrett H. Graham, Mahim Jain, Seema R. Lalani, Richard A. Lewis, Paolo M. Moretti, Sarah K. Nicholas, Jordan S. Orange, Jennifer E. Posey, Lorraine Potocki, Jill A. Rosenfeld, Daryl A. Scott, Neil A. Hanchard, Tran A. Alyssa, Alejandro E. Mercedes, Azamian S. Mashid, Hugo J. Bellen, Shinya Yamamoto, Michael F. Wangler, Monte Westerfield, John H. Postlethwait, Christine M. Eng, Yaping Yang, Donna M. Muzny, Patricia A. Ward, Rachel B. Ramoni, Alexa T. McCray, Issac S. Kohane, Ingrid A. Holm, Matthew Might, Paul Mazur, Kimberly Splinter, Cecilia Esteves, Vandana Shashi, Yong hui Jiang, Loren D.M. Pena, Allyn McConkie-Rosell, Kelly Schoch, Rebecca C. Spillmann, Jennifer A. Sullivan, Nicole M. Walley, David B. Goldstein, Nicholas Stong, Alan H. Beggs, Joseph Loscalzo, Calum A. MacRae, Edwin K. Silverman, Joan M. Stoler, David A. Sweetser, Richard L. Maas, Joel B. Krier, Lance H. Rodan, Chris A. Walsh, Cynthia M. Cooper, Juan C. Pallais, Laurel A. Donnell-Fink, Elizabeth L. Krieg, Sharyn A. Lincoln, Lauren C. Briere, Howard J. Jacob, Elizabeth A. Worthey, Joe Lazar, Kim A. Strong, Lori H. Handley, J. Scott Newberry, David P. Bick, Molly C. Schroeder, Donna M. Brown, Camille L. Birch, Shawn E. Levy, Braden E. Boone, Dan C. Dorset, Angela L. Jones, Teri A. Manolio, John J. Mulvihill, Anastasia L. Wise, Jyoti G. Dayal, David J. Eckstein, Donna M. Krasnewich, Carson R. Loomis, Laura A. Mamounas, Brenda Iglesias, Casey Martin, David M. Koeller, Thomas O. Metz, Euan A. Ashley, Paul G. Fisher, Jonathan A. Bernstein, Matt T. Wheeler, Patricia A. Zornio, Daryl M. Waggott, Annika M. Dries, Jennefer N. Kohler, Katrina M. Dipple, Stan F. Nelson, Christina G.S. Palmer, Eric Vilain, Patrick Allard, Esteban C. Dell Angelica, Hane Lee, Janet S. Sinsheimer, Jeanette C. Papp, Naghmeh Dorrani, Matthew R. Herzog, Hayk Barseghyan, David R. Adams, Christopher J. Adams, Elizabeth A. Burke, Katherine R. Chao, Mariska Davids, David D. Draper, Tyra Estwick, Trevor S. Frisby, Kate Frost, William A. Gahl, Valerie Gartner, Rena A. Godfrey, Mitchell Goheen, Gretchen A. Golas, Mary G. Gordon, Catherine A. Groden, Andrea L. Gropman, Mary E. Hackbarth, Isabel Hardee, Jean M. Johnston, Alanna E. Koehler, Lea Latham, Yvonne L. Latour, Chyau Yueh C. Lau, Paul R. Lee, Denise J. Levy, Adam P. Liebendorder, Ellen F. Macnamara, Valerie V. Maduro, May V. Malicdan, Thomas C. Markello, Alexandra J. McCarty, Jennifer L. Murphy, Michele E. Nehrebecky, Donna Novacic, Barbara N. Pusey, Sarah Sadozai, Katherine E. Schaffer, Prashant Sharma, Ariane G. Soldatos, Sara P. Thomas, Cynthia J. Tifft, Nathanial J. Tolman, Camilo Toro, Zaheer M. Valivullah, Colleen E. Wahl, Mike Warburton, Alec A. Weech, Lynne A. Wolfe, Guoyun Yu, Rizwan Hamid, John H. Newman, John A. Phillips, Joy D. Cogan, Michael S. Freemark, Jane S. Bellet, Martha Ann Keels, Melanie J. Bonner, Maysantoine El-Dairi, Megan Butler, Peter G. Kranz, Constance T.R.M. Stumpel, Sylvia Klinkenberg, Karin Oberndorff, Malik Alawi, Rene Santer, Slavé Petrovski, Outi Kuismin, Satu Korpi-Heikkilä, Olli Pietilainen, Palotie Aarno, Mitja I. Kurki, Alexander Hoischen, Anna C. Need, David B. Goldstein, Fanny Kortüm

Research output: Contribution to journal › Article › peer-review

55 Scopus citations

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