WHOLE EXOME SEQUENCING IDENTIFIES GENETIC CAUSE OF HISTIOCYTOID CARDIOMYOPATHY

被引:0
|
作者
Rea, Gillian [1 ,2 ]
Homfray, Tessa [2 ]
Till, Jan [2 ]
Roses-Noguer, Ferran [2 ]
Buchan, Rachel J. [1 ,2 ]
Wilkinson, Sam [1 ,2 ]
Walsh, Roddy [1 ,2 ]
McKee, Shane [3 ]
Stewart, Fiona J. [3 ]
Murday, Victoria [4 ]
Taylor, Robert W. [5 ]
Baksi, A. John [2 ]
Prasad, Sanjay K. [2 ]
Barton, Paul J. R. [1 ,2 ]
Ware, James S. [1 ,2 ]
Cook, Stuart A.
机构
[1] Univ London Imperial Coll Sci Technol & Med, London SW7 2AZ, England
[2] Royal Brompton & Harefield NHS Fdn Trust, London, England
[3] Northern Ireland Reg Genet Serv, Belfast, Antrim, North Ireland
[4] Queen Elizabeth Univ Hosp, Lab Med, Dept Clin Genet, Glasgow, Lanark, Scotland
[5] Wellcome Trust Ctr Mitochondrial Res, Newcastle Upon Tyne, Tyne & Wear, England
关键词
D O I
10.1136/heartjnl-2016-309890.209
中图分类号
R5 [内科学];
学科分类号
1002 ; 100201 ;
摘要
209
引用
收藏
页码:A138 / A139
页数:3
相关论文
共 50 条
  • [1] Whole Exome Sequencing Identifies a Mutation in Transportin 3 as a Cause of Dilated Cardiomyopathy
    Li, Duanxiang
    Norton, Nadine
    Xu, Yan
    Wiley, David J.
    Luo, Chunyan
    Ouyang, Ping
    Siegfried, Jill D.
    Rampersaud, Evadnie
    Zchner, Stephan
    Mangos, Steve
    Durso, Gennaro Durso
    Martin, Eden
    Rieder, Mark J.
    Wang, Qing K.
    Nickerson, Deborah A.
    Hershberger, Ray E.
    CIRCULATION RESEARCH, 2011, 109 (12) : E56 - E57
  • [2] Whole exome sequencing identifies the genetic cause of a new ciliopathy syndrome
    Waters, A.
    Lescai, F.
    Christou, S.
    Chanudet, E.
    Charu, D.
    Kleta, R.
    Hubank, M.
    Stupka, E.
    Winey, M.
    Beales, P.
    PEDIATRIC NEPHROLOGY, 2011, 26 (09) : 1574 - 1575
  • [3] Whole Exome Sequencing Identifies Novel Genetic Variants in Left Ventricular Noncompaction Cardiomyopathy
    Collyer, John
    Xu, Fuyi
    Munkhsaikhan, Undral
    Zhang, Wenying
    Lu, Lu
    Towbin, Jeffrey A.
    Purevjav, Enkhsaikhan
    CIRCULATION, 2018, 138
  • [4] Whole exome sequencing identifies a KCNJ12 mutation as a cause of familial dilated cardiomyopathy
    Yuan, Hai-Xin
    Yan, Kai
    Hou, Dong-Yan
    Zhang, Zhi-Yong
    Wang, Hua
    Wang, Xin
    Zhang, Juan
    Xu, Xiao-Rong
    Liang, Yan-Hong
    Zhao, Wen-Shu
    Xu, Lin
    Zhang, Lin
    MEDICINE, 2017, 96 (33)
  • [5] Whole Exome Sequencing Identifies Genetic Causes of Disproportional Short Stature
    Vasques, G.
    Funari, M.
    Lerario, A.
    Freire, B.
    Shinjo, S.
    Marie, S.
    Arnhold, I
    Jorge, A.
    HORMONE RESEARCH IN PAEDIATRICS, 2015, 84 : 34 - 34
  • [6] Whole exome sequencing identifies a novel EMD mutation in a Chinese family with dilated cardiomyopathy
    Zhang, Mingqiu
    Chen, Jia
    Si, Dayong
    Zheng, Yu
    Jiao, Haixu
    Feng, Zhaohui
    Hu, Zhengmao
    Duan, Ranhui
    BMC MEDICAL GENETICS, 2014, 15
  • [7] Exome sequencing identifies the cause of a mendelian disorder
    Ng, Sarah B.
    Buckingham, Kati J.
    Lee, Choli
    Bigham, Abigail W.
    Tabor, Holly K.
    Dent, Karin M.
    Huff, Chad D.
    Shannon, Paul T.
    Jabs, Ethylin Wang
    Nickerson, Deborah A.
    Shendure, Jay
    Bamshad, Michael J.
    NATURE GENETICS, 2010, 42 (01) : 30 - U41
  • [8] Whole exome sequencing identifies genetic markers of enterovirus susceptibility in East Asians
    Sung, Chia-Cheng
    Luxton, G. W. Gant
    Hung, Kuo-Sheng
    Wu, Yung-Fu
    Wang, Chih-Chien
    Hsu, Chih-Sin
    Hu, Chih-Fen
    FRONTIERS IN MICROBIOLOGY, 2024, 15
  • [9] Exome sequencing identifies the cause of a mendelian disorder
    Sarah B Ng
    Kati J Buckingham
    Choli Lee
    Abigail W Bigham
    Holly K Tabor
    Karin M Dent
    Chad D Huff
    Paul T Shannon
    Ethylin Wang Jabs
    Deborah A Nickerson
    Jay Shendure
    Michael J Bamshad
    Nature Genetics, 2010, 42 : 30 - 35
  • [10] Whole exome sequencing identifies novel inherited genetic variants in tetralogy of Fallot
    Pan, Yu
    Liu, Manli
    Zhang, Songsong
    Mei, Huaxian
    Wu, Jing
    JOURNAL OF THORACIC DISEASE, 2022, : 3008 - 3015