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
  • [1] Rapid whole exome sequencing in pregnancies to identify the underlying genetic cause in fetuses with congenital anomalies detected by ultrasound imaging
    Deden, Chantal
    Neveling, Kornelia
    Zafeiropopoulou, Dimitra
    Gilissen, Christian
    Pfundt, Rolph
    Rinne, Tuula
    de Leeuw, Nicole
    Faas, Brigitte
    Gardeitchik, Thatjana
    Sallevelt, Suzanne C. E. H.
    Paulussen, Aimee
    Stevens, Servi J. C.
    Sikkel, Esther
    Elting, Mariet W.
    van Maarle, Merel C.
    Diderich, Karin E. M.
    Corsten-Janssen, Nicole
    Lichtenbelt, Klaske D.
    Lachmeijer, Guus
    Vissers, Lisenka E. L. M.
    Yntema, Helger G.
    Nelen, Marcel
    Feenstra, Ilse
    van Zelst-Stams, Wendy A. G.
    PRENATAL DIAGNOSIS, 2020, 40 (08) : 972 - 983
  • [2] Whole Exome Sequencing in a Population of Fetuses With Structural Anomalies
    Burrill, Natalie
    Schindewolf, Erica
    Pilchman, Lisa
    Wright, Renee
    Crane, Haley
    Gebb, Juliana
    Khalek, Nahla
    Soni, Shelly
    Teefey, Christina Paidas
    Oliver, Edward R.
    Linn, Rebecca
    Moldenhauer, Julie S.
    PRENATAL DIAGNOSIS, 2025,
  • [3] Whole Exome Sequencing in an Enriched Population of Fetuses with Structural Anomalies
    Burrill, Natalie
    Schindewolf, Erica M.
    Pilchman, Lisa
    Dicicco, Renee
    Khalek, Nahla
    Gebb, Juliana S.
    Teefey, Christina Paidas
    Soni, Shelly
    Oliver, Edward R.
    Linn, Rebecca
    Moldenhauer, Julie S.
    AMERICAN JOURNAL OF OBSTETRICS AND GYNECOLOGY, 2023, 228 (01) : S206 - S206
  • [4] Whole exome sequencing in recurrent cases of fetal sonographic anomalies
    grinshpun-cohen, julia
    Sagi-Dain, Lena
    Singer, Amihood
    EUROPEAN JOURNAL OF HUMAN GENETICS, 2024, 32 : 1308 - 1309
  • [5] Clinical utility of trio whole exome sequencing in fetuses with ultrasound anomalies
    Zeng, Ziye
    Zhang, Lan
    Zhou, Yuqin
    Zhang, Xue
    Yi, Hong
    Li, He
    Liu, Yuqi
    Li, Jian
    Chen, Qian
    Chen, Yulin
    Yu, Guiming
    Yi, Jing
    Zhang, Yana
    Zhang, Hua
    Dong, Yanling
    HUMAN GENOMICS, 2025, 19 (01)
  • [6] Whole-exome sequencing in deceased fetuses with ultrasound anomalies: a retrospective analysis
    Huang, Wei
    Zhu, Xiaofan
    Sun, Gege
    Gao, Zhi
    Kong, Xiangdong
    BMC MEDICAL GENOMICS, 2023, 16 (01)
  • [7] Whole-exome sequencing in deceased fetuses with ultrasound anomalies: a retrospective analysis
    Wei Huang
    Xiaofan Zhu
    Gege Sun
    Zhi Gao
    Xiangdong Kong
    BMC Medical Genomics, 16
  • [8] Prenatal exome sequencing in fetuses with callosal anomalies
    Lei, Ting-ying
    She, Qin
    Fu, Fang
    Zhen, Li
    Li, Ru
    Yu, Qiu-xia
    Wang, Dan
    Li, Ying-si
    Cheng, Ken
    Zhou, Hang
    Yang, Xin
    Pan, Min
    Li, Dong-zhi
    Liao, Can
    PRENATAL DIAGNOSIS, 2022, 42 (06) : 744 - 752
  • [9] Whole Exome Sequencing to Identify Genetic Causes of Short Stature
    Guo, Michael H.
    Shen, Yiping
    Walvoord, Emily C.
    Miller, Timothy C.
    Moon, Jennifer E.
    Hirschhorn, Joel N.
    Dauber, Andrew
    HORMONE RESEARCH IN PAEDIATRICS, 2014, 82 (01): : 44 - 52
  • [10] Exome Sequencing Fails to Identify the Genetic Cause of Aicardi Syndrome
    Lund, Caroline
    Striano, Pasquale
    Sorte, Hanne Sormo
    Parisi, Pasquale
    Iacomino, Michele
    Sheng, Ying
    Vigeland, Magnus D.
    Oye, Anne-Marte
    Moller, Rikke Steensbjerre
    Selmer, Kaja K.
    Zara, Federico
    MOLECULAR SYNDROMOLOGY, 2016, 7 (04) : 234 - 238