Whole Genome Sequencing Reveals Novel IGHMBP2 Variant Leading to Unique Cryptic Splice‐site and Charcot‐Marie‐Tooth Phenotype with Early Onset Symptoms
Thomas A. Cassini,Laura Duncan,Lynette C. Rives,John H. Newman,John A. Phillips,Mary E. Koziura,Jennifer Brault,Rizwan Hamid,Joy Cogan,Christopher J. Adams,David R. Adams, Mercedes E. Alejandro,Patrick Allard,Euan A. Ashley, Mashid S. Azamian,Carlos A. Bacino,Ashok Balasubramanyam,Hayk Barseghyan,Alan H. Beggs,Hugo J. Bellen,Jonathan A. Bernstein,David P. Bick,Camille L. Birch,Braden E. Boone,Bret L. Bostwick,Lauren C. Briere,Donna M. Brown,Matthew Brush,Elizabeth A. Burke,Lindsay C. Burrage,Katherine R. Chao,Shan Chen,Gary D. Clark,Cynthia M. Cooper,William J. Craigen,Mariska Davids,Jyoti G. Dayal,Esteban C. Dell'Angelica,Shweta U. Dhar,Katrina M. Dipple, Laurel A. Donnell-Fink,Naghmeh Dorrani,Daniel C. Dorset,David D. Draper,Annika M. Dries,David J. Eckstein,Lisa T. Emrick,Christine M. Eng,Cecilia Esteves,Tyra Estwick,Paul G. Fisher, Trevor S. Frisby, Kate Frost,William A. Gahl,Valerie Gartner,Rena A. Godfrey, Mitchell Goheen,Gretchen A. Golas,David B. Goldstein, Mary G. Gordon,Sarah E. Gould,JeanPhilippe F. Gourdine,Brett H. Graham,Catherine A. Groden,Andrea L. Gropman,Mary E. Hackbarth,Melissa Haendel,Neil A. Hanchard, Lori H. Handley,Isabel Hardee,Matthew R. Herzog,Ingrid A. Holm,Ellen M. Howerton,Howard J. Jacob,Mahim Jain,Yong-hui Jiang,Jean M. Johnston,Angela L. Jones,Alanna E. Koehler,David M. Koeller,Isaac S. Kohane,Jennefer N. Kohler,Donna M. Krasnewich, Elizabeth L. Krieg,Joel B. Krier,Jennifer E. Kyle,Seema R. Lalani,Lea Latham,Yvonne L. Latour,C. Christopher Lau,Jozef Lazar,Brendan H. Lee,Hane Lee,Paul R. Lee,Shawn E. Levy, Denise J. Levy,Richard A. Lewis, Adam P. Liebendorfer,Sharyn A. Lincoln,Joseph Loscalzo,Richard L. Maas,Ellen F. Macnamara,Calum A. MacRae,Valerie V. Maduro,May Christine Malicdan,Laura A. Mamounas,Teri A. Manolio,Thomas C. Markello, Paul Mazur,Alexandra J. McCarty,Allyn McConkie-Rosell,Alexa T. McCray,Thomas O. Metz,Matthew Might,Paolo M. Moretti,John J. Mulvihill,Jennifer L. Murphy,Donna M. Muzny,Michele E. Nehrebecky,Stan F. Nelson,J. Scott Newberry,Sarah K. Nicholas,Donna Novacic,Jordan S. Orange,J. Carl Pallais,Christina G. S. Palmer,Jeanette C. Papp,Loren D. M. Pena,Jennifer E. Posey,John H. Postlethwait,Lorraine Potocki,Barbara N. Pusey,Rachel B. Ramoni,Lance H. Rodan,Jill A. Rosenfeld, Sarah Sadozai,Susan L. Samson, Katherine E. Schaffer,Kelly Schoch,Molly C. Schroeder,Daryl A. Scott,Prashant Sharma,Vandana Shashi,Edwin K. Silverman,Janet S. Sinsheimer,Ariane G. Soldatos,Rebecca C. Spillmann,Kimberly Splinter,Joan M. Stoler,Nicholas Stong,Kimberly A. Strong,Jennifer A. Sullivan,David A. Sweetser, Sara P. Thomas,Cynthia J. Tifft,Nathanial J. Tolman,Camilo Toro,Alyssa A. Tran,Tiina K. Urv,Zaheer M. Valivullah,Eric Vilain,Tiphanie P. Vogel,Daryl M. Waggott,Colleen E. Wahl,Nicole M. Walley,Chris A. Walsh,Michael F. Wangler, Mike Warburton,Patricia A. Ward,Katrina M. Waters,Bobbie-Jo M. Webb-Robertson, Alec A. Weech,Monte Westerfield,Matthew T. Wheeler,Anastasia L. Wise,Lynne A. Wolfe,Elizabeth A. Worthey,Shinya Yamamoto,Yaping Yang,Guoyun Yu, Jing Zhang, Patricia A. Zornio
Molecular Genetics & Genomic Medicine（2019）
引用 17|浏览26
关键词
Charcot-Marie-Tooth,IGHMBP2,intron,splicing,Undiagnosed Disease Network,whole exome sequencing
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