Identification of genomic aberrations in children with global developmental delay or intellectual disability through detecting copy number changes and whole exome sequencing

被引:0
|
作者
Chen, P.
Chen, Y.
机构
[1] Natl Yang Ming Univ, Dept Life Sci, Taipei, Taiwan
[2] Natl Yang Ming Univ, Inst Genome Sci, Taipei, Taiwan
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
P14.037D
引用
收藏
页码:1632 / 1632
页数:1
相关论文
共 50 条
  • [31] Genetic determinants of global developmental delay and intellectual disability in Ukrainian children
    Shchubelka, Khrystyna
    Turova, Liudmyla
    Wolfsberger, Walter
    Kalanquin, Kelly
    Williston, Krista
    Kurutsa, Oleksii
    Makovetska, Anastasiia
    Hasynets, Yaroslava
    Mirutenko, Violeta
    Vakerych, Mykhailo
    Oleksyk, Taras K.
    JOURNAL OF NEURODEVELOPMENTAL DISORDERS, 2024, 16 (01)
  • [32] Whole Exome Sequencing in Brazilian individuals with intellectual disability, Neurodevelopmental Delay and (or) Multiple Congenital Anomalies with Copy Number Variants of Uncertain Clinical Significance detected by Chromosomal Microarray Analysis
    Spineli-Silva, S.
    de Leeuw, N.
    dos Santos, A. P.
    Leijsten, N.
    Ruiterkamp-Versteeg, M. H. A.
    Prota, J. R. M.
    Maciel-Guerra, A. T.
    Marques-de-Faria, A.
    Steiner, C. E.
    Gil-da-Silva-Lopes, V. L.
    Vieira, T. P.
    EUROPEAN JOURNAL OF HUMAN GENETICS, 2020, 28 (SUPPL 1) : 463 - 463
  • [33] Utility of whole-exome sequencing for patients with multiple congenital anomalies with or without intellectual disability/developmental delay in East Asia population
    Hsu, Rai-Hseng
    Lee, Chen-Hao
    Chien, Yin-Hsiu
    Lin, Shuan-Pei
    Hung, Miao-Zi
    Chen, Nai-Chi
    Lin, Yi-Lin
    Hwu, Wuh-Liang
    Lee, Ni-Chung
    MOLECULAR GENETICS & GENOMIC MEDICINE, 2023, 11 (06):
  • [34] Application of whole-exome sequencing for detecting copy number variants in CMT1A/HNPP
    Jo, H. -Y.
    Park, M. -H.
    Woo, H. -M.
    Han, M. H.
    Kim, B. -Y.
    Choi, B. -O.
    Chung, K. W.
    Koo, S. K.
    CLINICAL GENETICS, 2016, 90 (02) : 177 - 181
  • [35] Challenges in detecting genomic copy number aberrations using next-generation sequencing data and the eXome Hidden Markov Model: A clinical exome-first diagnostic approach
    Yamamoto T.
    Shimojima K.
    Ondo Y.
    Imai K.
    Chong P.F.
    Kira R.
    Amemiya M.
    Saito A.
    Okamoto N.
    Human Genome Variation, 3 (1)
  • [36] RefCNV: Identification of Gene-Based Copy Number Variants Using Whole Exome Sequencing
    Chang, Lun-Ching
    Das, Biswajit
    Lih, Chih-Jian
    Si, Han
    Camalier, Corinne E.
    McGregor, Paul M., III
    Polley, Eric
    CANCER INFORMATICS, 2016, 15 : 65 - 71
  • [37] Effectiveness of whole-exome sequencing and costs of the traditional diagnostic trajectory in children with intellectual disability
    Monroe, Glen R.
    Frederix, Gerardus W.
    Savelberg, Sanne M. C.
    de Vries, Tamar I.
    Duran, Karen J.
    van der Smagt, Jasper J.
    Terhal, Paulien A.
    van Hasselt, Peter M.
    Kroes, Hester Y.
    Verhoeven-Duif, Nanda M.
    Nijman, Isaac J.
    Carbo, Ellen C.
    van Gassen, Koen L.
    Knoers, Nine V.
    Hovels, Anke M.
    van Haelst, Mieke M.
    Visser, Gepke
    van Haaften, Gijs
    GENETICS IN MEDICINE, 2016, 18 (09) : 949 - 956
  • [38] Identification of cancer driver genes in focal genomic aberrations from whole-exome sequencing data
    Jang, Ho
    Lee, Hyunju
    BIOINFORMATICS, 2018, 34 (03) : 519 - 521
  • [39] Genetic tests by next-generation sequencing in children with developmental delay and/or intellectual disability
    Han, Ji Yoon
    Lee, In Goo
    CLINICAL AND EXPERIMENTAL PEDIATRICS, 2020, 63 (06) : 195 - 202
  • [40] Diagnostic yield of patients with undiagnosed intellectual disability, global developmental delay and multiples congenital anomalies using karyotype, microarray analysis, whole exome sequencing from Central Brazil
    da Cunha Leite, Ana Julia
    Pinto, Irene Plaza
    Leijsten, Nico
    Ruiterkamp-Versteeg, Martina
    Pfundt, Rolph
    de Leeuw, Nicole
    da Cruz, Aparecido Divino
    Minasi, Lysa Bernardes
    PLOS ONE, 2022, 17 (04):