Concepedia

Fetal Exome Sequencing

Fetal Exome Sequencing is a prenatal genetic diagnostic method that belongs to the class of genomic sequencing techniques and specifically involves the targeted analysis of the protein-coding regions of the fetal genome to identify pathogenic variants associated with monogenic disorders.

128

Publications

7.9K

Citations

1.5K

Authors

475

Institutions

Publications per year

2017–2026

101

Parents

Publications

128

Prenatal exome sequencing analysis in fetal structural anomalies detected by ultrasonography (PAGE): a cohort study

Jenny Lord, Dominic McMullan, Ruth Y. Eberhardt et al. · The Lancet · 2019 · 708 citations · Full text

, , +17

Whole-exome sequencing in the evaluation of fetal structural anomalies: a prospective cohort study

Slavé Petrovski, Vimla S. Aggarwal, Jessica L. Giordano et al. · The Lancet · 2019 · 605 citations

, , +14

The use of fetal exome sequencing in prenatal diagnosis: a points to consider document of the American College of Medical Genetics and Genomics (ACMG)

Kristin G. Monaghan, Natalia T. Leach, Dawn Pekarek et al. · Genetics in Medicine · 2020 · 260 citations · Full text

, , +17

Exome sequencing for prenatal diagnosis of fetuses with sonographic abnormalities

Suzanne Drury, Hywel Williams, Natalie Trump et al. · Prenatal Diagnosis · 2015 · 228 citations · Full text

, , +17

Exome sequencing improves genetic diagnosis of structural fetal abnormalities revealed by ultrasound

Keren Carss, Sarah Hillman, Vijaya Parthiban et al. · Human Molecular Genetics · 2014 · 195 citations · Full text

, , +17

1–5 of 128

Authors

1.5K

  1. LS
    Lyn S. Chitty

    University College London, United Kingdom

    8 publications · 1.9K citations

    7

    h-index

  2. XY
    Xin Yang

    Guangzhou Medical University, China

    7 publications · 242 citations

    7

    h-index

  3. FF
    Fang Fu

    Guangzhou Medical University, China

    7 publications · 268 citations

    7

    h-index

  4. DL
    Dong‐Zhi Li

    Guangzhou Medical University, China

    6 publications · 254 citations

    6

    h-index

  5. QY
    Qiuxia Yu

    Guangzhou Medical University, China

    6 publications · 197 citations

    6

    h-index

1–5 of 1.5K

Institutions

475

  1. Guangzhou Medical University

    Guangzhou, China

    10 h-index

    121 publications

    4.7K citations

  2. University College London

    London, United Kingdom

    8 h-index

    42 publications

    11.1K citations

  3. Great Ormond Street Hospital for Children NHS Foundation Trust

    London, United Kingdom

    7 h-index

    38 publications

    12.1K citations

  4. Guangzhou Women and Children Medical Center

    Guangzhou, China

    6 h-index

    41 publications

    1.7K citations

  5. Tel Aviv University

    Tel Aviv, Israel

    6 h-index

    35 publications

    1.5K citations

  6. Great Ormond Street Hospital

    London, United Kingdom

    5 h-index

    18 publications

    778 citations

  7. Columbia University Irving Medical Center

    New York, United States

    5 h-index

    36 publications

    13.6K citations

  8. University of California, San Francisco

    San Francisco, United States

    5 h-index

    24 publications

    2.6K citations

1–8 of 475

Venues

  1. Prenatal Diagnosis

    26 publications · 1.1K citations

    18

    h-index

  2. Genetics in Medicine

    GIM · 13 publications · 1.4K citations

    13

    h-index

  3. Frontiers in Genetics

    10 publications · 250 citations

    10

    h-index

  4. Ultrasound in Obstetrics and Gynecology

    5 publications · 195 citations

    5

    h-index

  5. American Journal of Medical Genetics Part A

    5 publications · 121 citations

    5

    h-index

1–5