학술논문
Whole genome sequencing reveals novel IGHMBP2 variant leading to unique cryptic splice-site and Charcot-Marie-Tooth phenotype with early onset symptoms
Document Type
Journal
Author
Cassini, Thomas A.; Duncan, Laura; Rives, Lynette C.; Newman, John H.; Phillips, John A.; Koziura, Mary E.; Brault, Jennifer; Hamid, Rizwan; Cogan, Joy; Adams, Christopher J.; Adams, David R.; Alejandro, Mercedes E.; Allard, Patrick; Ashley, Euan A.; Azamian, Mashid S.; Bacino, Carlos A.; Balasubramanyam, Ashok; Barseghyan, Hayk; Beggs, Alan H.; Bellen, Hugo J.; Bernstein, Jonathan A.; Bick, David P.; Birch, Camille L.; Boone, Braden E.; Bostwick, Bret L.; Briere, Lauren C.; Brown, Donna M.; Brush, Matthew; Burke, Elizabeth A.; Burrage, Lindsay C.; Chao, Katherine R.; Chen, Shan; Clark, Gary D.; Cooper, Cynthia M.; Craigen, William J.; Davids, Mariska; Dayal, Jyoti G.; Dell'Angelica, Esteban C.; Dhar, Shweta U.; Dipple, Katrina M.; Donnell-Fink, Laurel A.; Dorrani, Naghmeh; Dorset, Daniel C.; Draper, David D.; Dries, Annika M.; Eckstein, David J.; Emrick, Lisa T.; Eng, Christine M.; Esteves, Cecilia; Estwick, Tyra; Fisher, Paul G.; Frisby, Trevor S.; Frost, Kate; Gahl, William A.; Gartner, Valerie; Godfrey, Rena A.; Goheen, Mitchell; Golas, Gretchen A.; Goldstein, David B.; Gordon, Mary G.; Gould, Sarah E.; Gourdine, JeanPhilippe F.; Graham, Brett H.; Groden, Catherine A.; Gropman, Andrea L.; Hackbarth, Mary E.; Haendel, Melissa; Hanchard, Neil A.; Handley, Lori H.; Hardee, Isabel; Herzog, Matthew R.; Holm, Ingrid A.; Howerton, Ellen M.; Jacob, Howard J.; Jain, Mahim; Jiang, Yong-hui; Johnston, Jean M.; Jones, Angela L.; Koehler, Alanna E.; Koeller, David M.; Kohane, Isaac S.; Kohler, Jennefer N.; Krasnewich, Donna M.; Krieg, Elizabeth L.; Krier, Joel B.; Kyle, Jennifer E.; Lalani, Seema R.; Latham, Lea; Latour, Yvonne L.; Lau, C. Christopher; Lazar, Jozef; Lee, Brendan H.; Lee, Hane; Lee, Paul R.; Levy, Shawn E.; Levy, Denise J.; Lewis, Richard A.; Liebendorfer, Adam P.; Lincoln, Sharyn A.; Loscalzo, Joseph; Maas, Richard L.; Macnamara, Ellen F.; MacRae, Calum A.; Maduro, Valerie V.; Malicdan, May Christine, V; Mamounas, Laura A.; Manolio, Teri A.; Markello, Thomas C.; Mazur, Paul; McCarty, Alexandra J.; McConkie-Rosell, Allyn; McCray, Alexa T.; Metz, Thomas O.; Might, Matthew; Moretti, Paolo M.; Mulvihill, John J.; Murphy, Jennifer L.; Muzny, Donna M.; Nehrebecky, Michele E.; Nelson, Stan F.; Newberry, J. Scott; Nicholas, Sarah K.; Novacic, Donna; Orange, Jordan S.; Pallais, J. Carl; Palmer, Christina G. S.; Papp, Jeanette C.; Pena, Loren D. M.; Posey, Jennifer E.; Postlethwait, John H.; Potocki, Lorraine; Pusey, Barbara N.; Ramoni, Rachel B.; Rodan, Lance H.; Rosenfeld, Jill A.; Sadozai, Sarah; Samson, Susan L.; Schaffer, Katherine E.; Schoch, Kelly; Schroeder, Molly C.; Scott, Daryl A.; Sharma, Prashant; Shashi, Vandana; Silverman, Edwin K.; Sinsheimer, Janet S.; Soldatos, Ariane G.; Spillmann, Rebecca C.; Splinter, Kimberly; Stoler, Joan M.; Stong, Nicholas; Strong, Kimberly A.; Sullivan, Jennifer A.; Sweetser, David A.; Thomas, Sara P.; Tifft, Cynthia J.; Tolman, Nathanial J.; Toro, Camilo; Tran, Alyssa A.; Urv, Tiina K.; Valivullah, Zaheer M.; Vilain, Eric; Vogel, Tiphanie P.; Waggott, Daryl M.; Wahl, Colleen E.; Walley, Nicole M.; Walsh, Chris A.; Wangler, Michael F.; Warburton, Mike; Ward, Patricia A.; Waters, Katrina M.; Webb-Robertson, Bobbie-Jo M.; Weech, Alec A.; Westerfield, Monte; Wheeler, Matthew T.; Wise, Anastasia L.; Wolfe, Lynne A.; Worthey, Elizabeth A.; Yamamoto, Shinya; Yang, Yaping; Yu, Guoyun; Zhang, Jing; Zornio, Patricia A.; Undiagnosed Dis Network
Source
Subject
Language
English
ISSN
23249269