Diagnostic Clinical Genome and Exome Sequencing

被引:0
|
作者
Biesecker, Leslie G. [1 ]
Green, Robert C. [2 ]
机构
[1] NHGRI, Bethesda, MD 20892 USA
[2] Harvard Univ, Sch Med, Boston, MA USA
来源
NEW ENGLAND JOURNAL OF MEDICINE | 2014年 / 371卷 / 12期
关键词
D O I
暂无
中图分类号
R5 [内科学];
学科分类号
1002 ; 100201 ;
摘要
引用
收藏
页码:1170 / 1170
页数:1
相关论文
共 50 条
  • [31] Meta-analysis of the diagnostic and clinical utility of genome and exome sequencing and chromosomal microarray in children with suspected genetic diseases
    Clark, Michelle M.
    Starke, Zornitza
    Farnaes, Lauge
    Tan, Tiong Y.
    White, Susan M.
    Dimmock, David
    Kingsmore, Stephen F.
    [J]. NPJ GENOMIC MEDICINE, 2018, 3
  • [32] Exome and genome sequencing in reproductive medicine
    Normand, Elizabeth A.
    Alaimo, Joseph T.
    Van den Veyver, Ignatia B.
    [J]. FERTILITY AND STERILITY, 2018, 109 (02) : 213 - 220
  • [33] Whole exome and whole genome sequencing
    Bick, David
    Dimmock, David
    [J]. CURRENT OPINION IN PEDIATRICS, 2011, 23 (06) : 594 - 600
  • [34] INPATIENT RAPID EXOME/GENOME SEQUENCING
    Schildt, A. J.
    Stevenson, D.
    Yu, L.
    Anguiano, B.
    Suarez, C. J.
    [J]. JOURNAL OF INVESTIGATIVE MEDICINE, 2023, 71 (01) : NP551 - NP551
  • [35] Exome/Genome Sequencing in Undiagnosed Syndromes
    Sullivan, Jennifer A.
    Schoch, Kelly
    Spillmann, Rebecca C.
    Shashi, Vandana
    [J]. ANNUAL REVIEW OF MEDICINE, 2023, 74 : 489 - 502
  • [36] An approach to pediatric exome and genome sequencing
    Biesecker, Leslie G.
    Biesecker, Barbara B.
    [J]. CURRENT OPINION IN PEDIATRICS, 2014, 26 (06) : 639 - 645
  • [37] Validation of clinical exome sequencing in the diagnostic procedure of patients with intellectual disability in clinical practice
    Ballesta-Martinez, Maria Juliana
    Perez-Fernandez, Virginia
    Lopez-Gonzalez, Vanesa
    Sanchez-Soler, Maria Jose
    Serrano-Anton, Ana Teresa
    Rodriguez-Pena, Lidia Isolina
    Barreda-Sanchez, Maria
    Armengol-Dulcet, Lluis
    Guillen-Navarro, Encarna
    [J]. ORPHANET JOURNAL OF RARE DISEASES, 2023, 18 (01)
  • [38] Diagnostic exome sequencing in movement disorders
    Kamsteeg, E. J.
    Gilissen, C.
    Neveling, K.
    de Reuver, R.
    van de Warrenburg, B.
    Willemsen, M.
    Vermeer, S.
    Brunner, H.
    Veltman, J.
    Nelen, M.
    Scheffer, H.
    [J]. MOVEMENT DISORDERS, 2013, 28 : S395 - S395
  • [39] Validation of clinical exome sequencing in the diagnostic procedure of patients with intellectual disability in clinical practice
    María Juliana Ballesta-Martínez
    Virginia Pérez-Fernández
    Vanesa López-González
    María José Sánchez-Soler
    Ana Teresa Serrano-Antón
    Lidia Isolina Rodríguez-Peña
    Maria Barreda-Sánchez
    Lluís Armengol-Dulcet
    Encarna Guillén-Navarro
    [J]. Orphanet Journal of Rare Diseases, 18
  • [40] Diagnostic Exome Sequencing - Are We There Yet?
    Mefford, Heather C.
    [J]. NEW ENGLAND JOURNAL OF MEDICINE, 2012, 367 (20): : 1951 - 1953