CLINICAL WHOLE-EXOME SEQUENCING IN FOCAL EPILEPSIES OF SUSPECTED GENETIC ETIOLOGY

被引：0
|
作者：
Perucca, P. [1 ,2 ]
Scheffer, I. E. [2 ,3 ,4 ]
O'Brien, T. J. [1 ,2 ]
Harvey, S. [4 ]
James, P. A. [1 ]
Lunke, S. [2 ,5 ]
Thorne, N. [6 ]
Gaff, C. [6 ]
Kwan, P. [1 ,2 ]
机构：
[1] Royal Melbourne Hosp, Melbourne, Vic, Australia
[2] Univ Melbourne, Melbourne, Vic, Australia
[3] Austin Hlth, Florey Inst, Melbourne, Vic, Australia
[4] Royal Childrens Hosp, Melbourne, Vic, Australia
[5] Ctr Translat Pathol, Melbourne, Vic, Australia
[6] Melbourne Genom Hlth Alliance, Melbourne, Vic, Australia
来源：
EPILEPSIA | 2015年 / 56卷
关键词：
D O I：
暂无
中图分类号：
R74 [神经病学与精神病学];
学科分类号：
摘要：
0022
引用
收藏
页码：9 / 10
页数：2
相关论文
共 50 条
  • [1] Pitfalls of whole exome sequencing in undefined clinical conditions with a suspected genetic etiology
    Moresco, Giada
    Rondinone, Ornella
    Mauri, Alessia
    Costanza, Jole
    Santaniello, Carlo
    Colapietro, Patrizia
    Micaglio, Emanuele
    Marfia, Giovanni
    Pesenti, Chiara
    Grilli, Federico
    Rinaldi, Berardo
    Prada, Elisabetta
    Scuvera, Giulietta
    Villa, Roberta
    Bedeschi, Maria Francesca
    Miozzo, Monica Rosa
    Milani, Donatella
    Fontana, Laura
    GENES & GENOMICS, 2023, 45 (05) : 637 - 655
  • [2] Pitfalls of whole exome sequencing in undefined clinical conditions with a suspected genetic etiology
    Giada Moresco
    Ornella Rondinone
    Alessia Mauri
    Jole Costanza
    Carlo Santaniello
    Patrizia Colapietro
    Emanuele Micaglio
    Giovanni Marfia
    Chiara Pesenti
    Federico Grilli
    Berardo Rinaldi
    Elisabetta Prada
    Giulietta Scuvera
    Roberta Villa
    Maria Francesca Bedeschi
    Monica Rosa Miozzo
    Donatella Milani
    Laura Fontana
    Genes & Genomics, 2023, 45 : 637 - 655
  • [3] Study on genetic etiology of two patients with mucopolysaccharidosis using whole-exome sequencing
    覃恬恬
    ChinaMedicalAbstracts(InternalMedicine), 2022, 39 (01) : 29 - 30
  • [4] Whole-exome sequencing for clinical diagnostics
    Linda Koch
    Nature Reviews Genetics, 2016, 17 (5) : 252 - 252
  • [5] Determination of genetic changes in etiology of autism spectrum disorder in twins by whole-exome sequencing
    Hayretdag, Ceyda
    Algedik, Pinar
    Ekmekci, Cumhur Gokhan
    Gunal, Ozlem Bozdagi
    Agyuz, Umut
    Yildirim, Halime
    Coskunpinar, Ender
    GENE REPORTS, 2020, 19
  • [6] Clinical Application of Whole-Exome Sequencing for Genetic Diagnosis of Patients with Clinically Suspected Primary Ciliary Dyskinesia in Korea
    Oh, J. Y.
    Lee, J. S.
    Sohn, M. H.
    Kang, Y. A.
    Cho, H. J.
    Kim, S. Y.
    Jung, J. S.
    Kim, K. W.
    PEDIATRIC PULMONOLOGY, 2021, 56 : S145 - S146
  • [7] Clinical whole-exome sequencing: are we there yet?
    Atwal, Paldeep Singh
    Brennan, Marie-Louise
    Cox, Rachel
    Niaki, Michael
    Platt, Julia
    Homeyer, Margaret
    Kwan, Andrea
    Parkin, Sylvie
    Schelley, Susan
    Slattery, Leah
    Wilnai, Yael
    Bernstein, Jonathan Adam
    Enns, Gregory M.
    Hudgins, Louanne
    GENETICS IN MEDICINE, 2014, 16 (09) : 717 - 719
  • [8] Genetic Diagnosis through Whole-Exome Sequencing Reply
    Jacob, Howard J.
    NEW ENGLAND JOURNAL OF MEDICINE, 2014, 370 (11): : 1069 - 1069
  • [9] Rare genetic disorders: Beyond whole-exome sequencing
    Umair, Muhammad
    JOURNAL OF GENE MEDICINE, 2023, 25 (10):
  • [10] The genetic component of preeclampsia: A whole-exome sequencing study
    Hansen, Anette Tarp
    Jensen, Jens Magnus Bernth
    Hvas, Anne-Mette
    Christiansen, Mette
    PLOS ONE, 2018, 13 (05):
12345