EFFICIENT GENETIC DIAGNOSTIC TESTING OF PATIENTS WITH EPILEPTIC DISORDERS USING PANEL-BASED NEXT GENERATION SEQUENCING

被引:0
|
作者
Russ, A. C. [1 ]
Steiner, I [1 ]
Doecker, M. [1 ]
Riesch, E. [1 ]
Juengling, J. [1 ]
Scheurenbrand, T. [1 ]
Sprecher, A. [1 ]
Hoertnagel, K. [1 ]
Lemke, J. R. [2 ]
Biskup, S. [1 ]
机构
[1] CeGaT GmbH, Tubingen, Germany
[2] Univ Childrens Hosp Inselspital, Div Human Genet, Bern, Switzerland
关键词
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
引用
下载
收藏
页码:16 / 16
页数:1
相关论文
共 50 条
  • [1] Highly efficient genetic diagnostic testing in patients with inherited retinal dystrophies using Panel-based Next Generation Sequencing
    Gloeckle, Nicola
    Kohl, Susanne
    Mohr, Julia
    Scheurenbrand, Tim
    Sprecher, Andrea
    Biskup, Saskia
    Berger, Wolfgang
    Wissinger, Bernd
    Neidhardt, John
    INVESTIGATIVE OPHTHALMOLOGY & VISUAL SCIENCE, 2013, 54 (15)
  • [2] Genetic diagnostic testing in a large cohort of retinitis pigmentosa patients using panel-based next generation sequencing
    Mohr, Julia
    Gloeckle, Nicola
    Kohl, Susanne
    Scheurenbrand, Tim
    Sprecher, Andrea
    Bernd, Antje
    Zrenner, Eberhart
    Wissinger, Bernd
    Hoertnagel, Konstanze
    INVESTIGATIVE OPHTHALMOLOGY & VISUAL SCIENCE, 2013, 54 (15)
  • [3] Genetic testing in patients with inherited retinal dystrophies using panel-based next generation sequencing
    Kohl, Susanne
    Bernd, Antje S.
    Gloeckle, Nicola
    Mohr, Julia
    Zrenner, Eberhart
    Wissinger, Bernd
    Biskup, Saskia
    INVESTIGATIVE OPHTHALMOLOGY & VISUAL SCIENCE, 2014, 55 (13)
  • [4] Diagnosis of inherited platelet disorders by a panel-based next generation sequencing approach
    Schulze, H.
    Streif, W.
    Knoefler, R.
    Bakchoul, T.
    Bugert, P.
    Koenig, E-M
    Klopocki, E.
    Andres, O.
    JOURNAL OF THROMBOSIS AND HAEMOSTASIS, 2016, 14 : 70 - 70
  • [5] Combining Panel-Based Next-Generation Sequencing and Exome Sequencing for Genetic Liver Diseases
    Chen, Chi -Bo
    Hsu, Jacob Shujui
    Chen, Pei-Lung
    Wu, Jia-Feng
    Li, Huei-Ying
    Liou, Bang -Yu
    Chang, Mei-Hwei
    Ni, Yen-Hsuan
    Hwu, Wuh-Liang
    Chien, Yin-Hsiu
    Chou, Yen -Yin
    Yang, Yao-Jong
    Lee, Ni-Chung
    Chen, Huey-Ling
    JOURNAL OF PEDIATRICS, 2023, 258
  • [6] Mutation screening in patients with retinal dystrophies using a Panel-based Next Generation Sequencing approach
    Weisschuh, Nicole
    Mayer, Anja-Kathrin
    Gloeckle, Nicola
    Kohl, Susanne
    Biskup, Saskia
    Wissinger, Bernd
    INVESTIGATIVE OPHTHALMOLOGY & VISUAL SCIENCE, 2014, 55 (13)
  • [7] Panel-Based Exome Sequencing for Neuromuscular Disorders as a Diagnostic Service
    Westra, Dineke
    Schouten, Meyke, I
    Stunnenberg, Bas C.
    Kusters, Benno
    Saris, Christiaan G. J.
    Erasmus, Corrie E.
    van Engelen, Baziel G.
    Bulk, Saskia
    Verschuuren-Bemelmans, Corien C.
    Gerkes, E. H.
    de Geus, Christa
    van Der Zwaag, P. A.
    Chan, Sophelia
    Chung, Brian
    Barge-Schaapveld, Daniela Q. C. M.
    Kriek, Marjolein
    Sznajer, Yves
    Van Spaendonck-Zwarts, Karin
    van Der Kooi, Anneke J.
    Krause, Amanda
    Schonewolf-Greulich, Bitten
    De Die-Smulders, Christine
    Sallevelt, Suzanne C. E. H.
    Krapels, Ingrid P. C.
    Rasmussen, Magnhild
    Maystadt, Isabelle
    Kievit, Anneke J. A.
    Witting, Nanna
    Pennings, Maartje
    Meijer, Rowdy
    Gillissen, Christian
    Kamsteeg, Erik-Jan
    Voermans, Nicol C.
    JOURNAL OF NEUROMUSCULAR DISEASES, 2019, 6 (02) : 241 - 258
  • [8] Panel-based next generation sequencing as a reliable and efficient technique to detect mutations in unselected patients with retinal dystrophies
    Gloeckle, Nicola
    Kohl, Susanne
    Mohr, Julia
    Scheurenbrand, Tim
    Sprecher, Andrea
    Weisschuh, Nicole
    Bernd, Antje
    Rudolph, Guenther
    Schubach, Max
    Poloschek, Charlotte
    Zrenner, Eberhart
    Biskup, Saskia
    Berger, Wolfgang
    Wissinger, Bernd
    Neidhardt, John
    EUROPEAN JOURNAL OF HUMAN GENETICS, 2014, 22 (01) : 99 - 104
  • [9] Panel-based next generation sequencing as a reliable and efficient technique to detect mutations in unselected patients with retinal dystrophies
    Nicola Glöckle
    Susanne Kohl
    Julia Mohr
    Tim Scheurenbrand
    Andrea Sprecher
    Nicole Weisschuh
    Antje Bernd
    Günther Rudolph
    Max Schubach
    Charlotte Poloschek
    Eberhart Zrenner
    Saskia Biskup
    Wolfgang Berger
    Bernd Wissinger
    John Neidhardt
    European Journal of Human Genetics, 2014, 22 : 99 - 104
  • [10] TARGETED NEXT GENERATION SEQUENCING AS DIAGNOSTIC TOOL IN EPILEPTIC DISORDERS
    Lemke, J.
    Riesch, E.
    Dorn, T.
    Weber, Y.
    Lerche, H.
    Boehm, D.
    Biskup, S.
    EPILEPSIA, 2012, 53 : 43 - 43