Detection of clinically relevant exonic copy number changes in fetuses by chromosomal microarray analysis

被引：0
|
作者：
Owen, Nichole [1 ,2 ]
Okur, Volkan [1 ,2 ]
Anderson, Stephanie [2 ]
Smith, Janice [1 ,2 ]
Bacino, Carlos [1 ,2 ]
Ward, Patricia [1 ,2 ]
Cheung, Sau [1 ]
Breman, Amy [1 ,2 ]
Van Den Veyver, Ignatia [1 ]
Bi, Weimin [1 ,2 ]
机构：
[1] Baylor Coll Med, Dept Mol & Human Genet, Houston, TX 77030 USA
[2] Baylor Genet, Houston, TX USA
来源：
GENETICS IN MEDICINE | 2022年 / 24卷 / 03期
关键词：
D O I：
10.1016/j.gim.2022.01.495
中图分类号：
Q3 [遗传学];
学科分类号：
071007 ; 090102 ;
摘要：
eP462
引用
收藏
页码：S291 / S291
页数：1
相关论文
共 50 条
  • [1] Detection of Clinically Relevant Exonic Copy-Number Changes by Array CGH
    Boone, Philip M.
    Bacino, Carlos A.
    Shaw, Chad A.
    Eng, Patricia A.
    Hixson, Patricia M.
    Pursley, Amber N.
    Kang, Sung-Hae L.
    Yang, Yaping
    Wiszniewska, Joanna
    Nowakowska, Beata A.
    del Gaudio, Daniela
    Xia, Zhilian
    Simpson-Patel, Gayle
    Immken, LaDonna L.
    Gibson, James B.
    Tsai, Anne C. -H.
    Bowers, Jennifer A.
    Reimschisel, Tyler E.
    Schaaf, Christian P.
    Potocki, Lorraine
    Scaglia, Fernando
    Gambin, Tomasz
    Sykulski, Maciej
    Bartnik, Magdalena
    Derwinska, Katarzyna
    Wisniowiecka-Kowalnik, Barbara
    Lalani, Seema R.
    Probst, Frank J.
    Bi, Weimin
    Beaudet, Arthur L.
    Patel, Ankita
    Lupski, James R.
    Cheung, Sau Wai
    Stankiewicz, Pawel
    HUMAN MUTATION, 2010, 31 (12) : 1326 - 1342
  • [2] Detection of Clinically Relevant Monogenic Copy-Number Variants by a Comprehensive Genome-Wide Microarray with Exonic Coverage
    Chau, Matthew Hoi Kin
    Anderson, Stephanie A.
    Song, Rodger
    Cooper, Lance
    Ward, Patricia A.
    Yuan, Bo
    Shaw, Chad
    Stankiewicz, Pawel
    Cheung, Sau Wai
    Vossaert, Liesbeth
    Wang, Yue
    Owen, Nichole M.
    Smith, Janice
    Bacino, Carlos A.
    Schulze, Katharina, V
    Bi, Weimin
    CLINICAL CHEMISTRY, 2025, 71 (01) : 141 - 154
  • [3] Clinical application of chromosomal microarray analysis for the prenatal diagnosis of chromosomal abnormalities and copy number variations in fetuses with congenital heart disease
    Xia, Yu
    Yang, Yongchao
    Huang, Shufang
    Wu, Yueheng
    Li, Ping
    Zhuang, Jian
    PRENATAL DIAGNOSIS, 2018, 38 (06) : 406 - 413
  • [4] 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
  • [5] Performance of Chromosomal Microarray Analysis for Detection of Copy Number Variations in Fetal Echogenic Bowel
    Fan, Xiangqun
    Huang, Hailong
    Lin, Xiyao
    Xuel, Huili
    Cai, Meiying
    Lin, Na
    Xu, Liangpu
    RISK MANAGEMENT AND HEALTHCARE POLICY, 2021, 14 : 1431 - 1438
  • [6] Exome sequencing vs chromosomal microarray for copy number variant detection
    McWalter, K.
    Sanyoura, M.
    Sack, L.
    Lindy, A.
    Douglas, G.
    Juusola, J.
    Kruszka, P.
    ANNALS OF NEUROLOGY, 2025, 96 : S29 - S29
  • [7] SNP-Based Chromosomal Microarray Analysis for Detecting DNA Copy Number Variations in Fetuses with a Thickened Nuchal Fold
    Kievskaya, J. K.
    Shilova, N., V
    Kanivets, I., V
    Kudryavtseva, E., V
    Pyankov, D., V
    Korostelev, S. A.
    SOVREMENNYE TEHNOLOGII V MEDICINE, 2021, 13 (06) : 72 - 77
  • [8] Chromosomal Microarray Detection of Constitutional Copy Number Variation Using Saliva DNA
    Reiner, Jennifer
    Karger, Lisa
    Cohen, Ninette
    Mehta, Lakshmi
    Edelmann, Lisa
    Scott, Stuart A.
    JOURNAL OF MOLECULAR DIAGNOSTICS, 2017, 19 (03): : 397 - 403
  • [9] Prenatal detection of chromosomal abnormalities and copy number variants in fetuses with congenital gastrointestinal obstruction
    Xinyue Meng
    Lili Jiang
    BMC Pregnancy and Childbirth, 22
  • [10] Prenatal detection of chromosomal abnormalities and copy number variants in fetuses with corpus callosum agenesis
    Zheng, Jiao
    Song, Tingting
    Xu, Ying
    Li, Jia
    Liu, Pengfei
    Zhang, Jianfang
    Yang, Hong
    GINEKOLOGIA POLSKA, 2024, 95 (10) : 824 - 829
12345