Next-generation sequencing meets genetic diagnostics: Development of a comprehensive workflow for neuromuscular disorders

被引:0
|
作者
Kesari, A.
Punetha, J.
Uapinyoying, P.
Clarke, N. [1 ]
Waddell, L. [2 ]
North, K. [2 ]
Plotz, P. [3 ]
Tesi-Rocha, C.
Bonnemann, C. [4 ]
Grosmann, C. [5 ]
Bertorini, T. [6 ]
Hoffman, E.
机构
[1] Childrens Hosp Westmead, Neurogenet Res Unit, Westmead, NSW, Australia
[2] Childrens Hosp Westmead, Inst Neurosci & Muscle Res, Westmead, NSW, Australia
[3] NIAMS, Bethseda, MD USA
[4] NINDS, Bethseda, MD USA
[5] Univ Calif San Diego, Dept Neurosci, San Diego, CA 92103 USA
[6] Univ Tennessee, Memphis, TN USA
关键词
D O I
10.1016/j.nmd.2013.06.551
中图分类号
R74 [神经病学与精神病学];
学科分类号
摘要
引用
收藏
页码:795 / 795
页数:1
相关论文
共 50 条
  • [11] Diagnosis of genetic disorders in childhood with next-generation sequencing
    Otilia, Menyhart
    Balazs, Gyorffy
    Andras, Szabo
    [J]. ORVOSI HETILAP, 2022, 163 (51) : 2027 - 2040
  • [12] SI: Next-generation sequencing in human molecular genetic diagnostics
    Hoffian, Sabine
    [J]. MOLECULAR AND CELLULAR PROBES, 2019, 45 : 69 - 69
  • [13] Next-Generation Sequencing to Diagnose Suspected Genetic Disorders
    Choy, Kay W.
    [J]. NEW ENGLAND JOURNAL OF MEDICINE, 2019, 380 (02): : 200 - 201
  • [14] Next-Generation Sequencing to Diagnose Suspected Genetic Disorders
    Adams, David R.
    Eng, Christine M.
    [J]. NEW ENGLAND JOURNAL OF MEDICINE, 2018, 379 (14): : 1353 - 1362
  • [15] The Impact of Next-Generation Sequencing on Medical Genetic Diagnostics and Counseling
    Schaflinger, Erich
    Enko, Dietmar
    [J]. DEUTSCHE MEDIZINISCHE WOCHENSCHRIFT, 2022, 147 (20) : 1336 - 1341
  • [16] Targeted Next-Generation Sequencing for the Molecular Genetic Diagnostics of Cardiomyopathies
    Meder, Benjamin
    Haas, Jan
    Keller, Andreas
    Heid, Christiane
    Just, Steffen
    Borries, Anne
    Boisguerin, Valesca
    Scharfenberger-Schmeer, Maren
    Staehler, Peer
    Beier, Markus
    Weichenhan, Dieter
    Strom, Tim M.
    Pfeufer, Arne
    Korn, Bernhard
    Katus, Hugo A.
    Rottbauer, Wolfgang
    [J]. CIRCULATION-CARDIOVASCULAR GENETICS, 2011, 4 (02) : 110 - 122
  • [17] Next-generation sequencing in neuromuscular diseases
    Efthymiou, Stephanie
    Manole, Andreea
    Houlden, Henry
    [J]. CURRENT OPINION IN NEUROLOGY, 2016, 29 (05) : 527 - 536
  • [18] Next-Generation Sequencing in Cancer Diagnostics
    Corless, Christopher L.
    [J]. JOURNAL OF MOLECULAR DIAGNOSTICS, 2016, 18 (06): : 813 - 816
  • [19] NEXT-GENERATION SEQUENCING IN LEUKEMIA DIAGNOSTICS
    Kohlmann, A.
    [J]. CLINICAL CHEMISTRY AND LABORATORY MEDICINE, 2011, 49 : S118 - S118
  • [20] Incorporating Spinal Muscular Atrophy Analysis by Next-Generation Sequencing into a Comprehensive Multigene Panel for Neuromuscular Disorders
    Tan, Christopher A.
    Westbrook, Majorie Jody
    Truty, Rebecca
    Kvitek, Daniel J.
    Kennemer, Michael
    Winder, Thomas L.
    Shieh, Perry B.
    [J]. GENETIC TESTING AND MOLECULAR BIOMARKERS, 2020, 24 (10) : 616 - 624