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

Vandana Shashi, Katherine Kim, Barbara K. Burton, Maja Hempel, Magdalena Walkiewicz, Heather M. McLaughlin, Megan Cho, Scott E. Hickey, Christine Shuss, Michael Freemark, Jane S. Bellet, Martha Ann Keels, Melanie J. Bonner, Maysantoine A. El-Dairi, Megan W. Butler, Peter G. Kranz, Constance T. R. M. Stumpel, Sylvia Klinkenberg, Karin Oberndorff, Malik Alawi, René Santer, Slavé Petrovski, Outi Kuismin, Satu Korpi-Heikkilä, Olli Pietiläinen, Aarno Palotie, Mitja Kurki, Alexander Hoischen, Anna C. Need, Fanny Kortüm, A. Bacino, Brendan Lee, Ashok Balasubramanyam, Lindsay C. Burrage, Gary Clark, William J. Craigen, Shweta U. Dhar, Lisa Emrick, Brett H. Graham, Mahim Jain, Seema R. Lalani, Richard A. Lewis, Paolo 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 Ramoni, Alexa T. McCray, Issac S. Kohane, Ingrid A. Holm, Matthew Might, Paul Mazur, Kimberly Splinter, Cecilia Esteves, Yong‐hui Jiang, Allyn McConkie‐Rosell, Jennifer A. Sullivan, 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, J. Carl Pallais, Laurel A. Donnell‐Fink, Elizabeth L. Krieg, Sharyn A. Lincoln, Lauren C. Briere, Howard J. Jacob, Elizabeth A. Worthey, J. J. Lazar, Kim A. Strong, Lori H. Handley, J. Scott Newberry, David Bick, Molly C. Schroeder, Donna M. Brown, Camille L. Birch, Shawn Levy, Braden Boone, Dan C. Dorset, Angela 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 Metz, Euan A. Ashley, Paul G. Fisher, Jonathan A. Bernstein, Matthew T. Wheeler, Patricia A. Zornio, Daryl Waggott, Annika M. Dries, Jennefer N. Kohler, Katrina M. Dipple, Stan F. Nelson, Christina G.S. Palmer, Éric Vilain, Patrick Allard, Esteban C. Dell Angelica, Hane Lee, Janet S. Sinsheimer, Jeanette C. Papp, Naghmeh Dorrani, Matthew Herzog, David R. 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 Golas, Mary “Gracie” G. Gordon, Catherine Groden, Andrea Gropman, Mary E. Hackbarth, Isabel Hardee, Jean M. Johnston, Alanna E. Koehler, Lea Latham, Yvonne L. Latour, C.-Y. 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 Nehrebecky, Donna Novacic, Barbara N. Pusey, Sarah Sadozai, Katherine E. Schaffer, Prashant Sharma, Ariane Soldatos, Sara 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, John H. Newman, Joy D. Cogan

Rattachement africain : us, de, nl, au, fi, gb. Niveau de preuve : code pays fourni par la source.