Novel Gene Discovery in the Epilepsies Using Diagnostic Exome Sequencing

被引：0
|
作者：
Bergner, A. L.
Helbig, K. L.
Powis, Z.
Shinde, D. N.
Hagman, K. F.
Tang, S.
机构：
来源：
ANNALS OF NEUROLOGY | 2015年 / 78卷
关键词：
Epilepsy; Genetics;
D O I：
暂无
中图分类号：
R74 [神经病学与精神病学];
学科分类号：
摘要：
170
引用
收藏
页码：S231 / S231
页数：1
相关论文
共 50 条
  • [21] Diagnostic Exome Sequencing - Are We There Yet?
    Mefford, Heather C.
    NEW ENGLAND JOURNAL OF MEDICINE, 2012, 367 (20): : 1951 - 1953
  • [22] Prenatal Diagnostic Exome Sequencing: a Review
    Lauren E. Westerfield
    Alicia A. Braxton
    Magdalena Walkiewicz
    Current Genetic Medicine Reports, 2017, 5 (2) : 75 - 83
  • [23] Clinical exome sequencing in 508 Middle Eastern families with Mendelian diseases provides a high diagnostic yield and discovery of novel genes
    Ben-Omran, T. I. M. M.
    EUROPEAN JOURNAL OF HUMAN GENETICS, 2019, 27 : 499 - 499
  • [24] TGM6 identified as a novel causative gene of spinocerebellar ataxias using exome sequencing
    Wang, Jun Ling
    Yang, Xu
    Xia, Kun
    Hu, Zheng Mao
    Weng, Ling
    Jin, Xin
    Jiang, Hong
    Zhang, Peng
    Shen, Lu
    Guo, Ji Feng
    Li, Nan
    Li, Ying Rui
    Lei, Li Fang
    Zhou, Jie
    Du, Juan
    Zhou, Ya Fang
    Pan, Qian
    Wang, Jian
    Wang, Jun
    Li, Rui Qiang
    Tang, Bei Sha
    BRAIN, 2010, 133 : 3510 - 3518
  • [25] The diagnostic yield of exome sequencing in liver diseases from a curated gene panel
    Kong, Xiao-Fei
    Bogyo, Kelsie
    Kapoor, Sheena
    Shea, Patrick R.
    Groopman, Emily E.
    Thomas-Wilson, Amanda
    Cocchi, Enrico
    Milo Rasouly, Hila
    Zheng, Beishi
    Sun, Siming
    Zhang, Junying
    Martinez, Mercedes
    Vittorio, Jennifer M.
    Dove, Lorna M.
    Marasa, Maddalena
    Wang, Timothy C.
    Verna, Elizabeth C.
    Worman, Howard J.
    Gharavi, Ali G.
    Goldstein, David B.
    Wattacheril, Julia
    SCIENTIFIC REPORTS, 2023, 13 (01)
  • [26] The diagnostic yield of exome sequencing in liver diseases from a curated gene panel
    Xiao-Fei Kong
    Kelsie Bogyo
    Sheena Kapoor
    Patrick R. Shea
    Emily E. Groopman
    Amanda Thomas-Wilson
    Enrico Cocchi
    Hila Milo Rasouly
    Beishi Zheng
    Siming Sun
    Junying Zhang
    Mercedes Martinez
    Jennifer M. Vittorio
    Lorna M. Dove
    Maddalena Marasa
    Timothy C. Wang
    Elizabeth C. Verna
    Howard J. Worman
    Ali G. Gharavi
    David B. Goldstein
    Julia Wattacheril
    Scientific Reports, 13
  • [27] Mutation discovery in mice by whole exome sequencing
    Fairfield, Heather
    Gilbert, Griffith J.
    Barter, Mary
    Corrigan, Rebecca R.
    Curtain, Michelle
    Ding, Yueming
    D'Ascenzo, Mark
    Gerhardt, Daniel J.
    He, Chao
    Huang, Wenhui
    Richmond, Todd
    Rowe, Lucy
    Probst, Frank J.
    Bergstrom, David E.
    Murray, Stephen A.
    Bult, Carol
    Richardson, Joel
    Kile, Benjamin T.
    Gut, Ivo
    Hager, Jorg
    Sigurdsson, Snaevar
    Mauceli, Evan
    Di Palma, Federica
    Lindblad-Toh, Kerstin
    Cunningham, Michael L.
    Cox, Timothy C.
    Justice, Monica J.
    Spector, Mona S.
    Lowe, Scott W.
    Albert, Thomas
    Donahue, Leah Rae
    Jeddeloh, Jeffrey
    Shendure, Jay
    Reinholdt, Laura G.
    GENOME BIOLOGY, 2011, 12 (09)
  • [28] Mutation discovery in mice by whole exome sequencing
    Heather Fairfield
    Griffith J Gilbert
    Mary Barter
    Rebecca R Corrigan
    Michelle Curtain
    Yueming Ding
    Mark D'Ascenzo
    Daniel J Gerhardt
    Chao He
    Wenhui Huang
    Todd Richmond
    Lucy Rowe
    Frank J Probst
    David E Bergstrom
    Stephen A Murray
    Carol Bult
    Joel Richardson
    Benjamin T Kile
    Ivo Gut
    Jorg Hager
    Snaevar Sigurdsson
    Evan Mauceli
    Federica Di Palma
    Kerstin Lindblad-Toh
    Michael L Cunningham
    Timothy C Cox
    Monica J Justice
    Mona S Spector
    Scott W Lowe
    Thomas Albert
    Leah Rae Donahue
    Jeffrey Jeddeloh
    Jay Shendure
    Laura G Reinholdt
    Genome Biology, 12
  • [29] Diagnostic Yield and Novel Candidate Genes by Exome Sequencing in 104 Omani Families
    Al-Kasbi, G.
    Al-Murshedi, F.
    A-Hashmi, N.
    Althihli, K.
    Al-Kindi, A.
    AlSaegh, A.
    Al-Futaisi, A.
    Al-Mamari, W.
    Al-Yahyaee, A.
    Al-Nabhani, M.
    Al-Rashdi, S.
    Al-Yahyaee, S.
    Al-Maawali, A.
    EUROPEAN JOURNAL OF HUMAN GENETICS, 2019, 27 : 1410 - 1410
  • [30] Exome sequencing for gene discovery in lethal fetal disorders - harnessing the value of extreme phenotypes
    Filges, Isabel
    Friedman, Jan M.
    PRENATAL DIAGNOSIS, 2015, 35 (10) : 1005 - 1009
12345