Yield of diagnostic exome sequencing in 100 individuals with both epilepsy and an intellectual disability

被引:0
|
作者
Snoeijen-Schouwenaars, F. [1 ]
Teunissen, M. [1 ]
Smeets, E. [1 ]
Nicolai, J. [1 ]
Verhoeven, J. [1 ]
Mierlo, P. [1 ]
Rouhl, R. [1 ]
Schelhaas, J. [1 ]
Willemsen, M. [1 ]
机构
[1] Kempenhaeghe, Heeze, Netherlands
关键词
D O I
暂无
中图分类号
G76 [特殊教育];
学科分类号
040109 ;
摘要
引用
收藏
页码:810 / 810
页数:1
相关论文
共 50 条
  • [1] DIAGNOSTIC WHOLE EXOME SEQUENCING IN 100 INDIVIDUALS WITH BOTH EPILEPSY AND INTELLECTUAL DISABILITY
    Snoeijen-Schouwenaars, F. M.
    van Mierlo, P.
    Verhoeven, J.
    Smeets, E. J.
    Nicolai, J.
    Kleefstra, T.
    Rouhl, R.
    Tan, I. Y.
    Yntema, H. G.
    Kamsteeg, E. J.
    Schelhaas, H. J.
    Willemsen, M. H.
    [J]. EPILEPSIA, 2016, 57 : 119 - 119
  • [2] Diagnostic exome sequencing in 100 consecutive patients with both epilepsy and intellectual disability
    Snoeijen-Schouwenaars, Francesca M.
    van Ool, Jans S.
    Verhoeven, Judith S.
    van Mierlo, Petra
    Braakman, Hilde M. H.
    Smeets, Eric E.
    Nicolai, Joost
    Schoots, Jeroen
    Teunissen, Mariel W. A.
    Rouhl, Rob P. W.
    Tan, In Y.
    Yntema, Helger G.
    Brunner, Han G.
    Pfundt, Rolph
    Stegmann, Alexander P.
    Kamsteeg, Erik-Jan
    Schelhaas, Helenius J.
    Willemsen, Marjolein H.
    [J]. EPILEPSIA, 2019, 60 (01) : 155 - 164
  • [3] Diagnostic yield of exome sequencing in patients with ultra-refractory epilepsy without intellectual disability
    Doyle, Michael
    Benson, Katherine
    Moloney, Patrick B.
    Carton, Robert
    Kearney, Hugh
    El-Naggar, Hany
    Widdess-Walsh, Peter
    Cavalleri, Gianpiero L.
    Delanty, Norman
    [J]. EPILEPSIA, 2021, 62 : 218 - 218
  • [4] Diagnostic yield of exome sequencing in patients with ultra-refractory epilepsy without intellectual disability
    Doyle, Michael
    Benson, Katherine
    Moloney, Patrick
    Carton, Robert
    Kearney, Hugh
    El Naggar, Hany
    Widdess-Walsh, Peter
    Cavalleri, Gianpiero
    Delanty, Norman
    [J]. IRISH JOURNAL OF MEDICAL SCIENCE, 2022, 191 (SUPPL 3) : S72 - S72
  • [5] Whole exome sequencing reduce diagnostic odyssey of patients with epilepsy and intellectual disability
    Minardi, R.
    Laura, L.
    Pippucci, T.
    Baroni, M. C.
    Stipa, C.
    Mostacci, B.
    Severi, G.
    Carelli, V.
    Seri, M.
    Tinuper, P.
    Bisulli, F.
    [J]. EUROPEAN JOURNAL OF HUMAN GENETICS, 2020, 28 (SUPPL 1) : 612 - 613
  • [6] Exome sequencing of 100 patients with intellectual disability
    Levchenko, O.
    Dadali, E.
    Bessonova, L.
    Demina, N.
    Rudenskaya, G.
    Matyushchenko, G.
    Markova, T.
    Anisimova, I.
    Semenova, N.
    Schagina, O.
    Ryzhkova, O.
    Zinchenko, R.
    Galkina, V.
    Voinova, V.
    Lavrov, A.
    [J]. EUROPEAN JOURNAL OF HUMAN GENETICS, 2019, 27 : 1390 - 1391
  • [7] Diagnostic yield of whole-exome sequencing in non-syndromic intellectual disability
    Taskiran, E. Z.
    Karaosmanoglu, B.
    Kosukcu, C.
    Urel-Demir, G.
    Akgun-Dogan, O.
    Simsek-Kiper, P. o.
    Alikasifoglu, M.
    Boduroglu, K.
    Utine, G. E.
    [J]. JOURNAL OF INTELLECTUAL DISABILITY RESEARCH, 2021, 65 (06) : 577 - 588
  • [8] Diagnostic Exome Sequencing in Persons with Severe Intellectual Disability
    de Ligt, Joep
    Willemsen, Marjolein H.
    van Bon, Bregje W. M.
    Kleefstra, Tjitske
    Yntema, Helger G.
    Kroes, Thessa
    Vulto-van Silfhout, Anneke T.
    Koolen, David A.
    de Vries, Petra
    Gilissen, Christian
    del Rosario, Marisol
    Hoischen, Alexander
    Scheffer, Hans
    de Vries, Bert B. A.
    Brunner, Han G.
    Veltman, Joris A.
    Vissers, Lisenka E. L. M.
    [J]. NEW ENGLAND JOURNAL OF MEDICINE, 2012, 367 (20): : 1921 - 1929
  • [9] The diagnostic yield of intellectual disability: combined whole genome low-coverage sequencing and medical exome sequencing
    Wang, Jun
    Wang, Yan
    Wang, Liwen
    Chen, Wang Yang
    Sheng, Min
    [J]. BMC MEDICAL GENOMICS, 2020, 13 (01)
  • [10] The diagnostic yield of intellectual disability: combined whole genome low-coverage sequencing and medical exome sequencing
    Jun Wang
    Yan Wang
    Liwen Wang
    Wang Yang Chen
    Min Sheng
    [J]. BMC Medical Genomics, 13