CUGC for syndromic microphthalmia including next-generation sequencing-based approaches

被引：0
|
作者：
Jonathan Eintracht
Marta Corton
David FitzPatrick
Mariya Moosajee
机构：
[1] UCL Institute of Ophthalmology,Department of Genetics
[2] IIS—University Hospital Fundación Jiménez Díaz—CIBERER,MRC Human Genetics Unit
[3] University of Edinburgh,undefined
[4] Moorfields Eye Hospital NHS Foundation Trust,undefined
[5] Great Ormond Street Hospital for Children NHS Foundation Trust,undefined
来源：
European Journal of Human Genetics | 2020年 / 28卷
关键词：
D O I：
暂无
中图分类号：
学科分类号：
摘要：
引用
收藏
页码：679 / 690
页数：11
相关论文
共 50 条
  • [41] Next-generation sequencing-based assay for detection of human papillomavirus in clinical samples
    Yeom, E.
    Park, M. R.
    Lee, S.
    Choi, Z.
    Shin, S.
    Lee, S-t.
    Choi, J. R.
    ANNALS OF ONCOLOGY, 2024, 35
  • [42] Hemoglobin Depletion Increases Sensitivity of Next-Generation Sequencing-based Transcriptome Profiling
    Munafo, D.
    Langhorst, B.
    Sumner, C.
    Chater, C.
    Mazzola, L.
    Bybee, J.
    Rivizzigno, D.
    Russello, S.
    Stewart, F.
    Dimalanta, E.
    Davis, T.
    JOURNAL OF MOLECULAR DIAGNOSTICS, 2015, 17 (06): : 777 - 777
  • [43] Clinical Utility and Reimbursement of Next-Generation Sequencing-Based Testing for Myeloid Malignancies
    Soderquist, Craig R.
    Freeman, Christopher
    Lin, Wen-Hsuan
    Leeman-Neill, Rebecca J.
    Gu, Yue
    Carter, Melissa C.
    Stutzel, Kate C.
    Sigcha, Evelyn
    Alobeid, Bachir
    Fernandes, Helen
    Bhagat, Govind
    Mansukhani, Mahesh M.
    Hsiao, Susan J.
    JOURNAL OF MOLECULAR DIAGNOSTICS, 2024, 26 (01): : 5 - 16
  • [44] Diagnosing Bacteremia in Real Time Using Next-Generation Sequencing-Based Technology
    Stratton, CharLes W.
    Tang, Yi-Wei
    JOURNAL OF MOLECULAR DIAGNOSTICS, 2020, 22 (03): : 301 - 303
  • [45] Inter-assay variability of next-generation sequencing-based gene panels
    Pham Nguyen Quy
    Keita Fukuyama
    Masashi Kanai
    Tadayuki Kou
    Tomohiro Kondo
    Masahiro Yoshioka
    Junichi Matsubara
    Tomohiro Sakuma
    Sachiko Minamiguchi
    Shigemi Matsumoto
    Manabu Muto
    BMC Medical Genomics, 15
  • [46] Next-Generation Sequencing-Based Genomic Profiling of Children with Acute Myeloid Leukemia
    Szilvia, Krizsan
    Borbala, Peterffy
    Balint, Egyed
    Tibor, Nagy
    Endre, Sebestyen
    Lajos, Leszlo Hegyi
    Zsuzsanna, Jakab
    Deniel, J. Erdelyi
    Judit, Muller
    Gyorgy, Peter
    Krisztina, Csanedi
    Krisztian, Kellay
    Gergely, Krivan
    Gabor, Barna
    Gabor, Bedics
    Iren, Haltrich
    Gabor, Ottoffy
    Katalin, Csernus
    Agnes, Vojcek
    Lilla, Gyoergyi Tiszlavicz
    Krisztina, Mita Gebor
    Agnes, Kelemen
    Peter, Hauser
    Zsuzsanna, Gaal
    Istvan, Szegedi
    Aniko, Ujfalusi
    Bela, Kajtar
    Csongor, Kiss
    Andras, Matolcsy
    Botond, Timar
    Gabor, Kovacs
    Donat, Alpar
    Csaba, Bodor
    JOURNAL OF MOLECULAR DIAGNOSTICS, 2023, 25 (08): : 555 - 568
  • [47] Inter-assay variability of next-generation sequencing-based gene panels
    Pham Nguyen Quy
    Fukuyama, Keita
    Kanai, Masashi
    Kou, Tadayuki
    Kondo, Tomohiro
    Yoshioka, Masahiro
    Matsubara, Junichi
    Sakuma, Tomohiro
    Minamiguchi, Sachiko
    Matsumoto, Shigemi
    Muto, Manabu
    BMC MEDICAL GENOMICS, 2022, 15 (01)
  • [48] Next-Generation Sequencing-Based Transcriptional Profiling of Sacred Lotus "China Antique"
    Kim, Min-Jeong
    Nelson, William
    Soderlund, Carol A.
    Gang, David R.
    TROPICAL PLANT BIOLOGY, 2013, 6 (2-3) : 161 - 179
  • [49] Next-generation sequencing-based molecular characterization of primary urinary bladder adenocarcinoma
    Roy, Somak
    Pradhan, Dinesh
    Ernst, Wayne L.
    Mercurio, Stephanie
    Najjar, Yana
    Parikh, Rahul
    Parwani, Anil V.
    Pai, Reetesh K.
    Dhir, Rajiv
    Nikiforova, Marina N.
    MODERN PATHOLOGY, 2017, 30 (08) : 1133 - 1143
  • [50] Next-generation Sequencing-based genomic profiling: Fostering innovation in cancer care?
    Fernandes, Gustavo S.
    Marques, Daniel F.
    Girardi, Daniel M.
    Braghiroli, Maria Ignez F.
    Coudry, Renata A.
    Meireles, Sibele I.
    Katz, Artur
    Hoff, Paulo M.
    CLINICS, 2017, 72 (10) : 588 - 594
12345