Prenatal counseling and the detection of copy-number variants

被引:9
|
作者
Benn, Peter A. [1 ]
机构
[1] Univ Connecticut Hlth Ctr, Dept Genet & Dev Biol, Div Human Genet, Farmington, CT 06030 USA
关键词
D O I
10.1038/gim.2013.16
中图分类号
Q3 [遗传学];
学科分类号
071007 ; 090102 ;
摘要
引用
收藏
页码:316 / 317
页数:2
相关论文
共 50 条
  • [11] ClassifyCNV: a tool for clinical annotation of copy-number variants
    Tatiana A. Gurbich
    Valery Vladimirovich Ilinsky
    Scientific Reports, 10
  • [12] Screening for common copy-number variants in cancer genes
    Tyson, Jess
    Majerus, Tamsin M. O.
    Walker, Susan
    Armour, John A. L.
    CANCER GENETICS AND CYTOGENETICS, 2010, 203 (02) : 316 - 323
  • [13] Prenatal detection of chromosomal abnormalities and copy number variants in fetuses with ventriculomegaly
    Chang, Qingxian
    Yang, Yanping
    Peng, Yixian
    Liu, Siping
    Li, Liyan
    Deng, Xujie
    Yang, Ming
    Lan, Yu
    EUROPEAN JOURNAL OF PAEDIATRIC NEUROLOGY, 2020, 25 : 106 - 112
  • [14] Copy-Number Variation and False Positive Results of Prenatal Screening
    Jivan, Yatika
    Peach, Betsy
    Keane, Colm
    NEW ENGLAND JOURNAL OF MEDICINE, 2015, 373 (26): : 2584 - 2585
  • [15] Efficacy of copy-number variation sequencing technology in prenatal diagnosis
    Zhao, Xiaoxi
    Fu, Lin
    JOURNAL OF PERINATAL MEDICINE, 2019, 47 (06) : 651 - 655
  • [16] Improving the Accuracy of Prenatal Screening with DNA Copy-Number Analysis
    Strom, Charles M.
    Maxwell, Megan D.
    Owen, Renius
    NEW ENGLAND JOURNAL OF MEDICINE, 2017, 376 (02): : 188 - 189
  • [17] Copy-Number Variation and False Positive Prenatal Screening Results
    Chudova, Darya I.
    Sehnert, Amy J.
    Bianchi, Diana W.
    NEW ENGLAND JOURNAL OF MEDICINE, 2016, 375 (01): : 97 - 98
  • [18] Fetal fraction amplification within prenatal cfDNA screening enables detection of genome-wide copy-number variants at enhanced resolution
    Acevedo, Ashley
    Teng, Oyang
    Labreche, Heather G.
    Nguyen, Alison
    Jazo, Luis
    Hong, Sun Hae
    Suk, John
    Pierson, Summer
    Westover, Thomas
    Ratzel, Sarah
    Haas, Kevin R.
    Muzzey, Dale
    GENETICS IN MEDICINE, 2025, 27 (01)
  • [19] A NEW METHOD FOR DETECTING ASSOCIATIONS WITH RARE COPY-NUMBER VARIANTS
    Szatkiewicz, Jin
    Tzeng, Jung-Ying
    Magnusson, Patrik
    Sullivan, Patrick
    EUROPEAN NEUROPSYCHOPHARMACOLOGY, 2017, 27 : S165 - S166
  • [20] Rare copy-number variants as modulators of common disease susceptibility
    Chiara Auwerx
    Maarja Jõeloo
    Marie C. Sadler
    Nicolò Tesio
    Sven Ojavee
    Charlie J. Clark
    Reedik Mägi
    Alexandre Reymond
    Zoltán Kutalik
    Genome Medicine, 16