Next-generation sequencing-based clinical diagnosis of choroideremia and comprehensive mutational and clinical analyses

被引：0
|
作者：
Feng-Juan Gao
Guo-Hong Tian
Fang-Yuan Hu
Dan-Dan Wang
Jian-Kang Li
Qing Chang
Fang Chen
Ge-Zhi Xu
Wei Liu
Ji-Hong Wu
机构：
[1] Eye and ENT Hospital,Eye Institute
[2] Fudan University,Shanghai Key Laboratory of Visual Impairment and Restoration
[3] Science and Technology Commission of Shanghai Municipality,State Key Laboratory of Medical Neurobiology
[4] Institutes of Brain Science and Collaborative Innovation Center for Brain Science,NHC Key Laboratory of Myopia
[5] Shanghai Medical College,BGI Education Center
[6] Fudan University,undefined
[7] Fudan University,undefined
[8] BGI-Shenzhen,undefined
[9] BGI-Changyuan,undefined
[10] University of Chinese Academy of Sciences,undefined
来源：
BMC Ophthalmology | / 20卷
关键词：
Choroideremia; Gene mutations; Molecular diagnosis; Optical coherence tomography;
D O I：
暂无
中图分类号：
学科分类号：
摘要：
引用
收藏
相关论文
共 50 条
  • [41] Anophthalmia including next-generation sequencing-based approaches
    Philippa Harding
    Brian P. Brooks
    David FitzPatrick
    Mariya Moosajee
    European Journal of Human Genetics, 2020, 28 : 388 - 398
  • [42] Next-Generation Sequencing-Based Biomarkers in Breast Cancer
    Han, Wonshik
    Lim, Woosung
    TRANSLATIONAL RESEARCH IN BREAST CANCER, 2021, 1187 : 323 - 335
  • [43] Comprehensive Validation of Cytology Samples for Downstream Clinical Next-Generation Sequencing
    Sidiropoulos, N.
    Hampel, K. J.
    Anderson, S. R.
    Schwartz, M.
    Gibson, P. C.
    Giroux, S.
    Leiman, G.
    Balla, A.
    JOURNAL OF MOLECULAR DIAGNOSTICS, 2015, 17 (06): : 844 - 845
  • [44] Clinical applicability of next-generation sequencing in clinical exome
    Hrabikova, Michala
    Chvojka, Stepan
    Cerna, Leona
    Kral, Jan
    Zembol, Filip
    Honysova, Barbora
    Bittoova, Martina
    Koudova, Monika
    EUROPEAN JOURNAL OF HUMAN GENETICS, 2024, 32 : 936 - 936
  • [45] A Comprehensive Clinical Next Generation Sequencing-Based Assay Can Impact Hematopathologic Diagnosis in a Significant Subset of Patients with Hematologic Malignancies
    Pichardo, Janine D.
    Feldstein, Julie T.
    Arcila, Maria
    Batlevi, Connie
    Zelenetz, Andrew D.
    Moskowitz, Craig H.
    Horwitz, Steven M.
    Tallman, Martin S.
    Stein, Eytan M.
    Klimek, Virginia M.
    Douer, Dan
    Rampal, Raajit K.
    Park, Jae H.
    Giralt, Sergio A.
    He, Jie
    Stephens, Philip J.
    Miller, Vincent
    Younes, Anas
    Levine, Ross L.
    Dogan, Ahmet
    BLOOD, 2014, 124 (21)
  • [46] Next-generation sequencing-based genome diagnostics across clinical genetics centers: implementation choices and their effects
    Vrijenhoek, Terry
    Kraaijeveld, Ken
    Elferink, Martin
    de Ligt, Joep
    Kranendonk, Elcke
    Santen, Gijs
    Nijman, Isaac J.
    Butler, Derek
    Claes, Godelieve
    Costessi, Adalberto
    Dorlijn, Wim
    van Eyndhoven, Winfried
    Halley, Dicky J. J.
    van den Hout, Mirjam C. G. N.
    van Hove, Steven
    Johansson, Lennart F.
    Jongbloed, Jan D. H.
    Kamps, Rick
    Kockx, Christel E. M.
    de Koning, Bart
    Kriek, Marjolein
    Deprez, Ronald Lekanne Dit
    Lunstroo, Hans
    Mannens, Marcel
    Mook, Olaf R.
    Nelen, Marcel
    Ploem, Corrette
    Rijnen, Marco
    Saris, Jasper J.
    Sinke, Richard
    Sistermans, Erik
    van Slegtenhorst, Marjon
    Sleutels, Frank
    van der Stoep, Nienke
    van Tienhoven, Marianne
    Vermaat, Martijn
    Vogel, Maartje
    Waisfisz, Quinten
    Weiss, Janneke Marjan
    van den Wijngaard, Arthur
    van Workum, Wilbert
    Ijntema, Helger
    van der Zwaag, Bert
    van IJcken, Wilfred F. J.
    den Dunnen, Johan
    Veltman, Joris A.
    Hennekam, Raoul
    Cuppen, Edwin
    EUROPEAN JOURNAL OF HUMAN GENETICS, 2015, 23 (09) : 1142 - 1150
  • [47] Clinical applications of next-generation sequencing-based gene panel in patients with muscular dystrophy: Korean experience
    Seong, M. -W.
    Cho, A.
    Park, H. W.
    Seo, S. H.
    Lim, B. C.
    Seol, D.
    Cho, S. I.
    Park, S. S.
    Chae, J. H.
    CLINICAL GENETICS, 2016, 89 (04) : 484 - 488
  • [48] Primary congenital glaucoma including next-generation sequencing-based approaches: clinical utility gene card
    Cynthia Yu-Wai-Man
    Gavin Arno
    John Brookes
    Julian Garcia-Feijoo
    Peng Tee Khaw
    Mariya Moosajee
    European Journal of Human Genetics, 2018, 26 : 1713 - 1718
  • [49] Clinical utility gene card for: inherited optic neuropathies including next-generation sequencing-based approaches
    Neringa Jurkute
    Anna Majander
    Richard Bowman
    Marcela Votruba
    Stephen Abbs
    James Acheson
    Guy Lenaers
    Patrizia Amati-Bonneau
    Mariya Moosajee
    Gavin Arno
    Patrick Yu-Wai-Man
    European Journal of Human Genetics, 2019, 27 : 494 - 502
  • [50] Primary congenital glaucoma including next-generation sequencing-based approaches: clinical utility gene card
    Yu-Wai-Man, Cynthia
    Arno, Gavin
    Brookes, John
    Garcia-Feijoo, Julian
    Khaw, Peng Tee
    Moosajee, Mariya
    EUROPEAN JOURNAL OF HUMAN GENETICS, 2018, 26 (11) : 1713 - 1718
12345