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
收藏
页码:16 / 16
页数:1
相关论文
共 50 条
  • [21] Diagnostic yield of panel-based genetic testing in a German cohort of early onset obesity patients
    Moawia, Abubakar
    Zorn, Stefanie
    Klehr-Martinelli, Margit
    Seiffert, Simone
    Schirmer, Melanie
    Tews, Daniel
    von Schnurbein, Julia
    Wabitsch, Martin
    Siebert, Reiner
    EUROPEAN JOURNAL OF HUMAN GENETICS, 2024, 32 : 435 - 435
  • [22] Genetic Testing of Noonan Syndrome Using Targeted Next-Generation Sequencing Panel
    Seol, C.
    Lee, B.
    Yoo, H.
    Choi, S.
    Lee, J.
    Seo, E.
    JOURNAL OF MOLECULAR DIAGNOSTICS, 2017, 19 (06): : 949 - 949
  • [23] Phenotypic heterogeneity in monogenic diabetes: The clinical and diagnostic utility of a gene panel-based next-generation sequencing approach
    Alkorta-Aranburu, G.
    Carmody, D.
    Cheng, Y. W.
    Nelakuditi, V.
    Ma, L.
    Dickens, Jazzmyne T.
    Das, S.
    Greeley, S. A. W.
    del Gaudio, D.
    MOLECULAR GENETICS AND METABOLISM, 2014, 113 (04) : 315 - 320
  • [24] Diagnostic yield of panel-based genetic testing in syndromic inherited retinal disease
    Omamah A. Jiman
    Rachel L. Taylor
    Eva Lenassi
    Jill Clayton Smith
    Sofia Douzgou
    Jamie M. Ellingford
    Stephanie Barton
    Claire Hardcastle
    Tracy Fletcher
    Christopher Campbell
    Jane Ashworth
    Susmito Biswas
    Simon C. Ramsden
    Forbes D. Manson
    Graeme C. Black
    European Journal of Human Genetics, 2020, 28 : 576 - 586
  • [25] Panel-based next-generation sequencing identifies novel mutations in Bulgarian patients with inherited retinal dystrophies
    Kamenarova, Kunka
    Mihova, Kalina
    Veleva, Nevyana
    Mermeklieva, Elena
    Mihaylova, Bilyana
    Dimitrova, Galina
    Oscar, Alexander
    Shandurkov, Iliyan
    Cherninkova, Sylvia
    Kaneva, Radka
    MOLECULAR GENETICS & GENOMIC MEDICINE, 2022, 10 (08):
  • [26] Diagnostic yield of panel-based genetic testing in syndromic inherited retinal disease
    Jiman, Omamah A.
    Taylor, Rachel L.
    Lenassi, Eva
    Smith, Jill Clayton
    Douzgou, Sofia
    Ellingford, Jamie M.
    Barton, Stephanie
    Hardcastle, Claire
    Fletcher, Tracy
    Campbell, Christopher
    Ashworth, Jane
    Biswas, Susmito
    Ramsden, Simon C.
    Manson, Forbes D.
    Black, Graeme C.
    EUROPEAN JOURNAL OF HUMAN GENETICS, 2020, 28 (05) : 576 - 586
  • [27] Genetic Diagnosis of Dravet Syndrome Using Next Generation Sequencing-Based Epilepsy Gene Panel Testing
    Lee, Jiwon
    Lee, Chung
    Park, Woong-Yang
    Lee, Jeehun
    ANNALS OF CLINICAL AND LABORATORY SCIENCE, 2020, 50 (05): : 625 - 637
  • [28] THE ROLE OF A NEXT GENERATION SEQUENCING PANEL IN THE DIAGNOSTIC PATHWAY IN DISORDERS OF SEX DEVELOPMENT
    Webb, Emma
    Hughes, Lowri A.
    Allen, S.
    Cole, Trevor
    Reed, Julie
    Drinkall, N. D.
    Chandran, H.
    Mccarthy, L.
    Kirk, Jeremy
    Krone, Nils
    HORMONE RESEARCH IN PAEDIATRICS, 2017, 88 : 204 - 205
  • [29] Diagnostic utility of next-generation sequencing-based panel testing in 543 patients with suspected skeletal dysplasia
    Scocchia, Alicia
    Kangas-Kontio, Tiia
    Irving, Melita
    Hero, Matti
    Saarinen, Inka
    Pelttari, Liisa
    Gall, Kimberly
    Valo, Satu
    Huusko, Johanna M.
    Tallila, Jonna
    Sistonen, Johanna
    Koskenvuo, Juha
    Alastalo, Tero-Pekka
    ORPHANET JOURNAL OF RARE DISEASES, 2021, 16 (01)
  • [30] Diagnostic utility of next-generation sequencing-based panel testing in 543 patients with suspected skeletal dysplasia
    Alicia Scocchia
    Tiia Kangas-Kontio
    Melita Irving
    Matti Hero
    Inka Saarinen
    Liisa Pelttari
    Kimberly Gall
    Satu Valo
    Johanna M. Huusko
    Jonna Tallila
    Johanna Sistonen
    Juha Koskenvuo
    Tero-Pekka Alastalo
    Orphanet Journal of Rare Diseases, 16