Heterozygous variants in
MYBPC1
are associated with an expanded neuromuscular phenotype beyond arthrogryposis
-
Published:2019-05-05
Issue:8
Volume:40
Page:1115-1126
-
ISSN:1059-7794
-
Container-title:Human Mutation
-
language:en
-
Short-container-title:Human Mutation
Author:
Shashi Vandana1ORCID, Geist Janelle2, Lee Youngha3, Yoo Yongjin3, Shin Unbeom4, Schoch Kelly1, Sullivan Jennifer1, Stong Nicholas5, Smith Edward6, Jasien Joan6, Kranz Peter7, Lee Yoonsung8, Shin Yong Beom9, Wright Nathan T.10, Choi Murim3, Kontrogianni‐Konstantopoulos Aikaterini2, Acosta Maria T., Adams David R., Aday Aaron, Alejandro Mercedes E., Allard Patrick, Ashley Euan A., Azamian Mahshid S., Bacino Carlos A., Bademci Guney, Baker Eva, Balasubramanyam Ashok, Baldridge Dustin, Barbouth Deborah, Batzli Gabriel F., Beggs Alan H., Bellen Hugo J., Bernstein Jonathan A., Berry Gerard T., Bican Anna, Bick David P., Birch Camille L., Bivona Stephanie, Bonnenmann Carsten, Bonner Devon, Boone Braden E., Bostwick Bret L., Briere Lauren C., Brokamp Elly, Brown Donna M., Brush Matthew, Burke Elizabeth A., Burrage Lindsay C., Butte Manish J., Carrasquillo Olveen, Chang Ta Chen Peter, Chao Hsiao‐Tuan, Clark Gary D., Coakley Terra R., Cobban Laurel A., Cogan Joy D., Cole F. Sessions, Colley Heather A., Cooper Cynthia M., Cope Heidi, Craigen William J., D'Souza Precilla, Dasari Surendra, Davids Mariska, Davidson Jean M., Dayal Jyoti G., Dell'Angelica Esteban C., Dhar Shweta U., Dorrani Naghmeh, Dorset Daniel C., Douine Emilie D., Draper David D., Dries Annika M., Duncan Laura, Eckstein David J., Emrick Lisa T., Eng Christine M., Enns Gregory M., Esteves Cecilia, Estwick Tyra, Fernandez Liliana, Ferreira Carlos, Fieg Elizabeth L., Fisher Paul G., Fogel Brent L., Forghani Irman, Friedman Noah D., Gahl William A., Godfrey Rena A., Goldman Alica M., Goldstein David B., Gourdine Jean‐Philippe F., Grajewski Alana, Groden Catherine A., Gropman Andrea L., Haendel Melissa, Hamid Rizwan, Hanchard Neil A., High Frances, Holm Ingrid A., Hom Jason, Huang Alden, Huang Yong, Isasi Rosario, Jamal Fariha, Jiang Yong‐hui, Johnston Jean M., Jones Angela L., Karaviti Lefkothea, Kelley Emily G., Koeller David M., Kohane Isaac S., Kohler Jennefer N., Krakow Deborah, Krasnewich Donna M., Korrick Susan, Koziura Mary, Krier Joel B., Kyle Jennifer E., Lalani Seema R., Lam Byron, Lanpher Brendan C., Lanza Ian R., Lau C. Christopher, Lazar Jozef, LeBlanc Kimberly, Lee Brendan H., Lee Hane, Levitt Roy, Levy Shawn E., Lewis Richard A., Lincoln Sharyn A., Liu Pengfei, Liu Xue Zhong, Loo Sandra K., Loscalzo Joseph, Maas Richard L., Macnamara Ellen F., MacRae Calum A., Maduro Valerie V., Majcherska Marta M., Malicdan May Christine V., Mamounas Laura A., Manolio Teri A., Markello Thomas C., Marom Ronit, Martin Martin G., Martínez‐Agosto Julian A., Marwaha Shruti, May Thomas, McCauley Jacob, McConkie‐Rosell Allyn, McCormack Colleen E., McCray Alexa T., Merker Jason D., Metz Thomas O., Might Matthew, Morava‐Kozicz Eva, Moretti Paolo M., Morimoto Marie, Mulvihill John J., Murdock David R., Nath Avi, Nelson Stan F., Newberry J. Scott, Newman John H., Nicholas Sarah K., Novacic Donna, Oglesbee Devin, Orengo James P., Pak Stephen, Pallais J. Carl, Palmer Christina GS., Papp Jeanette C., Parker Neil H., Pena Loren DM., Phillips John A., Posey Jennifer E., Postlethwait John H., Potocki Lorraine, Pusey Barbara N., Renteria Genecee, Reuter Chloe M., Rives Lynette, Robertson Amy K., Rodan Lance H., Rosenfeld Jill A., Rowley Robb K., Sacco Ralph, Sampson Jacinda B., Samson Susan L., Saporta Mario, Schaechter Judy, Schedl Timothy, Schoch Kelly, Scott Daryl A., Shakachite Lisa, Sharma Prashant, Shashi Vandana, Shields Kathleen, Shin Jimann, Signer Rebecca, Sillari Catherine H., Silverman Edwin K., Sinsheimer Janet S., Smith Kevin S., Solnica‐Krezel Lilianna, Spillmann Rebecca C., Stoler Joan M., Stong Nicholas, Sullivan Jennifer A., Sweetser David A., Tamburro Cecelia P., Tan Queenie K.‐G., Tekin Mustafa, Telischi Fred, Thorson Willa, Tifft Cynthia J., Toro Camilo, Tran Alyssa A., Urv Tiina K., Vogel Tiphanie P., Waggott Daryl M., Wahl Colleen E., Walley Nicole M., Walsh Chris A., Walker Melissa, Wambach Jennifer, Wan Jijun, Wang Lee‐kai, Wangler Michael F., Ward Patricia A., Waters Katrina M., Webb‐Robertson Bobbie‐Jo M., Wegner Daniel, Westerfield Monte, Wheeler Matthew T., Wise Anastasia L., Wolfe Lynne A., Woods Jeremy D., Worthey Elizabeth A., Yamamoto Shinya, Yang John, Yoon Amanda J., Yu Guoyun, Zastrow Diane B., Zhao Chunli, Zuchner Stephan,
Affiliation:
1. Division of Medical Genetics, Department of Pediatrics Duke Health Durham North Carolina 2. Department of Biochemistry and Molecular Biology University of Maryland School of Medicine Baltimore Maryland 3. Department of Biomedical Sciences Seoul National University College of Medicine Seoul Republic of Korea 4. School of Life Sciences Ulsan National Institute of Science and Technology Ulsan Republic of Korea 5. Institute for Genomic Medicine Columbia University New York New York 6. Division of Pediatric Neurology, Department of Pediatrics Duke Health Durham North Carolina 7. Division of Neuroradiology, Department of Radiology Duke Health Durham North Carolina 8. Center for Genomic Integrity Institute for Basic Science Ulsan Republic of Korea 9. Department of Rehabilitation Medicine Pusan National University College of Medicine Pusan Republic of Korea 10. Department of Chemistry and Biochemistry James Madison University Harrisonburg Virginia
Funder
National Science Foundation Foundation for the National Institutes of Health Muscular Dystrophy Association National Human Genome Research Institute National Institutes of Health
Subject
Genetics (clinical),Genetics
Cited by
21 articles.
订阅此论文施引文献
订阅此论文施引文献，注册后可以免费订阅5篇论文的施引文献，订阅后可以查看论文全部施引文献
|
|