Identification of new candidate genes for thyroid eye disease using trio-based exome sequencing

被引：0
|
作者：
Pang, Calvin [1 ]
Lai, Kenneth [1 ]
Xia, Xiaoxuan [2 ]
Chen, Wan [1 ]
Wei, Yingying [2 ]
Chen, Li [1 ]
Kam-Lung, Kelvin [1 ]
机构：
[1] Chinese Univ Hong Kong, Dept Ophthalmol & Visual Sci, Hong Kong, Peoples R China
[2] Chinese Univ Hong Kong, Dept Stat, Hong Kong, Peoples R China
来源：
INVESTIGATIVE OPHTHALMOLOGY & VISUAL SCIENCE | 2023年 / 64卷 / 08期
关键词：
D O I：
暂无
中图分类号：
R77 [眼科学];
学科分类号：
100212 ;
摘要：
4497
引用
收藏
页数：3
相关论文
共 50 条
  • [21] Exome Sequencing for The Identification of Mendelian Disease Genes
    Kurekci, Gulsum Kayman
    Dincer, Pervin
    ERCIYES MEDICAL JOURNAL, 2014, 36 (04) : 139 - 143
  • [22] Exploiting the Whole Exome Sequencing for the identification of new candidate genes associated with Brugada Syndrome
    Molli, Giulia
    Kirpichnikova, Valeria
    Santoni, Anna
    Di Giacobbe, Matteo
    Pipitone, Giovanni Battista
    Villatore, Andrea
    Merella, Stefania
    Bonfiglio, Silvia
    Peretto, Giovanni
    Sala, Simone
    Benedetti, Sara
    Di Resta, Chiara
    EUROPEAN JOURNAL OF HUMAN GENETICS, 2023, 31 : 141 - 142
  • [23] Subclinical parents assist in the detection of genetic variants in keratoconus by trio-based whole-exome sequencing
    Li, Xingyong
    Yao, Yinghao
    Xing, Shilai
    Ma, Siwen
    Pang, Shuaiyue
    Zhou, Yang
    Chen, Shihao
    MOLECULAR VISION, 2025, 31 : 23 - 32
  • [24] Trio-based whole-exome sequencing reveals mutations in early-onset high myopia
    Ye, Lu
    Guo, Yi-Ming
    Cai, Yi-Xin
    Wei, Junhan
    Huang, Juan
    Bi, Jiejing
    Chen, Ding
    Li, Fen-Fen
    Huang, Xiu-Feng
    BMJ OPEN OPHTHALMOLOGY, 2024, 9 (01):
  • [25] Genetic diagnosis of intellectual disability: results of trio-based whole exome sequencing in a cohort of 818 patients
    Courtin, T.
    Nava, C.
    Mignot, C.
    Buratti, J.
    Estrade, C.
    Karagic, S.
    Lafitte, A.
    Lejeune, E.
    Mach, C.
    Olin, V.
    Afenjar, A.
    Doummar, D.
    Moutard, M.
    de Villemeur, T. Billette
    Nougues, M.
    Burglen, L.
    Valence, S.
    Heron-Longe, B.
    Rodriguez-Levi, D.
    Whalen, S.
    Haye, D.
    Heide, S.
    Charles, P.
    Depienne, C.
    Marey, I.
    Heron, D.
    Keren, B.
    EUROPEAN JOURNAL OF HUMAN GENETICS, 2019, 27 : 1393 - 1394
  • [26] Identification of novel candidate genes for idiopathic short stature using whole exome sequencing
    Thiel, C. T.
    Hauer, N. N.
    Vogl, C.
    Ahmadian, R.
    Dhandapany, P. S.
    Popp, B.
    Buettner, C.
    Ube, S.
    Sticht, H.
    Ferrazzi, F.
    Ekici, A. B.
    de Luca, A.
    Schoeller, E.
    Schuhmann, S.
    Heath, K. E.
    Hisado-Oliva, A.
    Klinger, P.
    Boppudi, S.
    Kelkel, J.
    Jung, A. M.
    Kraus, C.
    Trautmann, U.
    Wiesener, A.
    Kutsche, K.
    Rauch, A.
    Wieczorek, D.
    Rohrer, T.
    Zenker, M.
    Doerr, H.
    Reis, A.
    EUROPEAN JOURNAL OF HUMAN GENETICS, 2019, 27 : 128 - 128
  • [27] Identification of mutations in retinal disease genes using Whole Exome Sequencing
    Mayer, Anja Kathrin
    Wissinger, Bernd
    Weisschuh, Nicole
    INVESTIGATIVE OPHTHALMOLOGY & VISUAL SCIENCE, 2015, 56 (07)
  • [28] Efficiency and clinical utility of trio-based whole exome sequencing in patients with suspected rare mendelian disorders
    Von Hardenberg, Sandra
    Schmidt, Gunnar
    Richter, Manuela
    Wallaschek, Hannah
    Schlegelberger, Brigitte
    Jacobi, Christoph
    von Gise, Alexander
    Auber, Bernd
    EUROPEAN JOURNAL OF HUMAN GENETICS, 2023, 31 : 595 - 595
  • [29] Trio-based exome sequencing arrests de novo mutations in early-onset high myopia
    Jin, Zi-Bing
    Wu, Jinyu
    Huang, Xiu-Feng
    Feng, Chun-Yun
    Cai, Xue-Bi
    Mao, Jian-Yang
    Xiang, Lue
    Wu, Kun-Chao
    Xiao, Xueshan
    Kloss, Bethany A.
    Li, Zhongshan
    Liu, Zhenwei
    Huang, Shenghai
    Shen, Meixiao
    Cheng, Fei-Fei
    Cheng, Xue-Wen
    Zheng, Zhi-Li
    Chen, Xuejiao
    Zhuang, Wenjuan
    Zhang, Qingjiong
    Young, Terri L.
    Xie, Ting
    Lu, Fan
    Qu, Jia
    PROCEEDINGS OF THE NATIONAL ACADEMY OF SCIENCES OF THE UNITED STATES OF AMERICA, 2017, 114 (16) : 4219 - 4224
  • [30] Trio-based whole exome sequencing in patients with suspected sporadic inborn errors of immunity: A retrospective cohort study
    Hebert, Anne
    Simons, Annet
    Schuurs-Hoeijmakers, Janneke H. M.
    Koenen, Hans J. P. M.
    Zonneveld-Huijssoon, Evelien
    Henriet, Stefanie S., V
    Schatorje, Ellen J. H.
    Hoppenreijs, Esther P. A. H.
    Leenders, Erika K. S. M.
    Janssen, Etienne J. M.
    Santen, Gijs W. E.
    de Munnik, Sonja A.
    van Reijmersdal, Simon, V
    van Rijssen, Esther
    Kersten, Simone
    Netea, Mihai G.
    Smeets, Ruben L.
    van de Veerdonk, Frank L.
    Hoischen, Alexander
    van der Made, Caspar, I
    ELIFE, 2022, 11
12345