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

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

Publikováno v: In The American Journal of Human Genetics 6 October 2016 99(4):991-999