Correction to: Diagnostic utility of next-generation sequencing-based panel testing in 543 patients with suspected skeletal dysplasia

被引：0
|
作者：
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
机构：
[1] Blueprint Genetics Inc,Department of Clinical Genetics
[2] Blueprint Genetics Oy,New Children’s Hospital, Pediatric Research Center
[3] Guy’s and St. Thomas’ NHS Trust,undefined
[4] Helsinki University Hospital,undefined
来源：
Orphanet Journal of Rare Diseases | / 17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
相关论文
共 50 条
  • [31] Next-generation sequencing: a frameshift in skeletal dysplasia gene discovery
    Lazarus, S.
    Zankl, A.
    Duncan, E. L.
    OSTEOPOROSIS INTERNATIONAL, 2014, 25 (02) : 407 - 422
  • [32] Anophthalmia including next-generation sequencing-based approaches
    Harding, Philippa
    Brooks, Brian P.
    FitzPatrick, David
    Moosajee, Mariya
    EUROPEAN JOURNAL OF HUMAN GENETICS, 2020, 28 (03) : 388 - 398
  • [33] Next-Generation Sequencing-Based Molecular Diagnosis of Choroideremia
    Shimizu, Kayo
    Oishi, Akio
    Oishi, Maho
    Ogino, Ken
    Morooka, Satoshi
    Sugahara, Masako
    Gotoh, Norimoto
    Yoshimura, Nagahisa
    CASE REPORTS IN OPHTHALMOLOGY, 2015, 6 (02): : 246 - 250
  • [34] 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
  • [35] Next-Generation Sequencing-Based Biomarkers in Breast Cancer
    Han, Wonshik
    Lim, Woosung
    TRANSLATIONAL RESEARCH IN BREAST CANCER, 2021, 1187 : 323 - 335
  • [36] Metagenomic Next-Generation Sequencing-Based Fine-Needle Aspiration in Patients With Suspected Infected Pancreatic Necrosis
    Hong, Donghuang
    Wang, Peng
    Xu, Yao
    Xu, Shan
    Yu, Lei
    Tong, Zhihui
    Li, Weiqin
    Qin, Kaixiu
    Ke, Lu
    CLINICAL AND TRANSLATIONAL GASTROENTEROLOGY, 2024, 15 (07)
  • [37] Targeted therapy according to next generation sequencing-based panel sequencing
    Saito, Motonobu
    Momma, Tomoyuki
    Kono, Koji
    FUKUSHIMA JOURNAL OF MEDICAL SCIENCE, 2018, 64 (01) : 9 - 14
  • [38] The Development and Validation of a Next-Generation Sequencing Panel for Skeletal Dysplasias
    Basehore, M. J.
    McGee, S.
    Kubiak, K.
    King, K.
    Butler, J.
    Lee, J. A.
    Jones, J. R.
    Friez, M. J.
    JOURNAL OF MOLECULAR DIAGNOSTICS, 2013, 15 (06): : 856 - 857
  • [39] Utility of ultrasound-guided liver tumor biopsy for next-generation sequencing-based clinical sequencing
    Eso, Yuji
    Kou, Tadayuki
    Nagai, Hiroki
    Kim, Young Hak
    Kanai, Masashi
    Matsumoto, Shigemi
    Mishima, Masako
    Arasawa, Soichi
    Iguchi, Eriko
    Nakamura, Fumiyasu
    Takeda, Haruhiko
    Takai, Atsushi
    Takahashi, Ken
    Ueda, Yoshihide
    Muto, Manabu
    Seno, Hiroshi
    HEPATOLOGY RESEARCH, 2019, 49 (05) : 579 - 589
  • [40] Diagnostic utility of DNA integrity number as an indicator of sufficient DNA quality in next-generation sequencing-based genomic profiling
    Hiramatsu, Kaho
    Matsuda, Chiaki
    Masago, Katsuhiro
    Toriyama, Kazuhiro
    Sasaki, Eiichi
    Fujita, Yasuko
    Haneda, Masataka
    Ebi, Hiromichi
    Shibata, Noriko
    Hosoda, Waki
    AMERICAN JOURNAL OF CLINICAL PATHOLOGY, 2023, 160 (03) : 261 - 267
12345