Rapid whole exome sequencing to identify the underlying genetic cause in fetuses with sonographic anomalies

被引:0
|
作者
Feenstra, I. [1 ]
Deden, A. C. [2 ]
Nelen, M. I. [1 ]
Neveling, K. [1 ]
Castelein, S. [3 ]
Gilissen, C. F. [3 ]
Pfundt, R. P. [4 ]
Elting, M. W. [5 ]
Rinne, T. K. [4 ]
Diderich, K. E. [6 ]
Sallevelt, S. C. [7 ]
Corsten-Janssen, N. [8 ]
Lichtenbelt, K. D. [9 ]
Gardeitchik, T. [4 ]
Vissers, L. [4 ]
Yntema, H. G. [4 ]
van Zelst-Stams, W. A. [1 ]
机构
[1] Radboud Univ Nijmegen, Med Ctr, Radboud Inst Hlth Sci, Dept Human Genet, Nijmegen, Netherlands
[2] Radboud Univ Nijmegen, Dept Human Genet, Med Ctr, Nijmegen, Netherlands
[3] Radboud Univ Nijmegen, Radboud Inst Mol Life Sci, Dept Human Genet, Med Ctr, Nijmegen, Netherlands
[4] Radboud Univ Nijmegen, Med Ctr, Donders Inst Brain Cognit & Behav, Dept Human Genet, Nijmegen, Netherlands
[5] Amsterdam Med Univ, Dept Genet, Amsterdam, Netherlands
[6] Erasmus MC, Dept Genet, Rotterdam, Netherlands
[7] Maastricht Univ, Med Ctr, Dept Clin Genet, Maastricht, Netherlands
[8] Univ Med Ctr Groningen, Dept Genet, Groningen, Netherlands
[9] Univ Med Ctr Utrecht, Dept Genet, Utrecht, Netherlands
关键词
D O I
暂无
中图分类号
Q5 [生物化学]; Q7 [分子生物学];
学科分类号
071010 ; 081704 ;
摘要
P01.68D
引用
收藏
页码:1203 / 1203
页数:1
相关论文
共 50 条
  • [31] The diagnostic yield of prenatal exome sequencing in fetuses with ultrasound anomalies
    Diderich, Karin
    Thurik, Florentine
    Wilke, Martina
    Joosten, Marieke
    van den Born, Myrthe
    Galjaard, Robert-Jan
    Weerts, Marjolein
    van Slegtenhorst, Marjon
    Sleutels, Frank
    Galjaard, Sander
    Knapen, Maarten
    Go, Attie
    Hoefsloot, Lies
    Srebniak, Malgorzata
    Bruggenwirth, Hennie
    EUROPEAN JOURNAL OF HUMAN GENETICS, 2023, 31 : 364 - 364
  • [32] Diagnostic efficiency of clinical exome sequencing in fetuses with congenital anomalies
    Kumps, Candy
    Baetens, Machteld
    Symoens, Sofie
    Roets, Ellen
    Van Oostrum, Noortje
    Vanakker, Olivier
    Callewaert, Bert
    Menten, Bjorn
    Janssens, Sandra
    EUROPEAN JOURNAL OF HUMAN GENETICS, 2024, 32 : 1319 - 1319
  • [33] WHOLE EXOME SEQUENCING- FIRST TIER TEST FOR FETUSES WITH SEVERE CENTRAL NERVOUS SYSTEM ANOMALIES
    Salgueiro, Natalia
    Conceicao, Ariana
    Castro, Lisandra
    Garcia, Elsa
    Correia, Ana
    Alves, Claudia
    Santos, Fernando
    Pereira, Nuno
    Cerveira, Isabel
    Lopes, Dulcina
    Rosmaninho, Adosinda
    de Almeida, Maria Lopes
    Ramos, Lina
    Ramos, Fabiana
    Lima, Margarida R.
    MEDICINE, 2025, 104 (04)
  • [34] Molecular diagnostic in fetuses with isolated congenital anomalies of the kidney and urinary tract by whole-exome sequencing
    Zhou, Xiaoyan
    Wang, Yan
    Shao, Binbin
    Wang, Chen
    Hu, Ping
    Qiao, Fengchang
    Xu, Zhengfeng
    JOURNAL OF CLINICAL LABORATORY ANALYSIS, 2020, 34 (11)
  • [35] Whole Exome Sequencing- first tier test for fetuses with severe central nervous system anomalies
    Salgueiro, Natalia
    Castro, Lisandra
    Conceicao, Ariana
    Garcia, Elsa
    Alves, Claudia
    Dias, Carolina
    Almeida, Maria Lopes
    Ramos, Fabiana
    Pereira, Nuno
    Ramos, Lina
    Reis-Lima, Margarida
    EUROPEAN JOURNAL OF HUMAN GENETICS, 2024, 32 : 1322 - 1322
  • [36] Identification of the Genetic Cause for Childhood Disintegrative Disorder by Whole-Exome Sequencing
    Zhu Wen
    Tian-Lin Cheng
    Da-Zhi Yin
    Shi-Bang Sun
    Zheng Wang
    Shun-Ying Yu
    Yi Zhang
    Zilong Qiu
    Ya-Song Du
    Neuroscience Bulletin, 2017, 33 : 251 - 254
  • [37] Identification of the Genetic Cause for Childhood Disintegrative Disorder by Whole-Exome Sequencing
    Wen, Zhu
    Cheng, Tian-Lin
    Yin, Da-Zhi
    Sun, Shi-Bang
    Wang, Zheng
    Yu, Shun-Ying
    Zhang, Yi
    Qiu, Zilong
    Du, Ya-Song
    NEUROSCIENCE BULLETIN, 2017, 33 (02) : 251 - 254
  • [38] Whole exome sequencing and whole Genome sequencing re-analysis to identify the genetic causes of undiagnosed neuromuscular phenotypes
    Selvatici, R.
    Neri, M.
    Fortunato, F.
    Rossi, R.
    D'Amico, A.
    Bertini, E.
    Pane, M.
    Mercuri, E.
    Fini, S.
    Bigoni, S.
    Gualandi, F.
    Ferlini, A.
    NEUROMUSCULAR DISORDERS, 2021, 31 : S145 - S145
  • [39] Whole-Exome Sequencing in Fetuses with Congenital Diaphragmatic Hernias: Known and Novel Genetic Mutation
    Schwab, Marisa E.
    Dong, Shan
    Sanders, Stephan J.
    MacKenzie, Tippi C.
    JOURNAL OF THE AMERICAN COLLEGE OF SURGEONS, 2020, 231 (04) : S217 - S217
  • [40] Whole exome sequencing to uncover genetic variants underlying congenital cystic adenomatoid malformations
    Tam, P. K.
    HONG KONG MEDICAL JOURNAL, 2019, 25 (04) : 36 - 38