Concepedia

Prenatal Exome Sequencing

Prenatal Exome Sequencing is a molecular diagnostic method that selectively analyzes the protein-coding regions of the fetal genome from prenatal samples to identify pathogenic variants associated with monogenic disorders.

170

Publications

8.4K

Citations

1.9K

Authors

583

Institutions

Publications per year

2017–2026

137

Variants

Prenatal Whole Exome Sequencing

Parents

Publications

170

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

Exome and genome sequencing for pediatric patients with congenital anomalies or intellectual disability: an evidence-based clinical guideline of the American College of Medical Genetics and Genomics (ACMG)

Kandamurugu Manickam, Monica R. McClain, Laurie Demmer et al. · Genetics in Medicine · 2021 · 629 citations · Full text

, , +17

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 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

Exome Sequencing for Prenatal Diagnosis in Nonimmune Hydrops Fetalis

Teresa N. Sparks, Billie R. Lianoglou, Rebecca Adami et al. · New England Journal of Medicine · 2020 · 189 citations · Full text

, , +16

1–5 of 170

Authors

1.9K

  1. MD
    Mark D. Kilby

    University of Birmingham, United Kingdom

    10 publications · 1.9K citations

    9

    h-index

  2. LS
    Lyn S. Chitty

    University College London, United Kingdom

    9 publications · 1.6K citations

    8

    h-index

  3. ME
    Mary E. Norton

    University of California, San Francisco, United States

    8 publications · 387 citations

    8

    h-index

  4. DM
    Dominic McMullan

    Birmingham Women's Hospital, United Kingdom

    9 publications · 1.8K citations

    8

    h-index

  5. EQ
    E Quinlan-Jones

    University of Birmingham, United Kingdom

    8 publications · 1.8K citations

    7

    h-index

1–5 of 1.9K

Institutions

583

  1. University College London

    London, United Kingdom

    12 h-index

    68 publications

    11.3K citations

  2. Birmingham Women’s and Children’s NHS Foundation Trust

    Birmingham, United Kingdom

    10 h-index

    49 publications

    12.8K citations

  3. University of California, San Francisco

    San Francisco, United States

    9 h-index

    90 publications

    5.3K citations

  4. Guangzhou Medical University

    Guangzhou, China

    9 h-index

    101 publications

    4.5K citations

  5. University of Birmingham

    Birmingham, United Kingdom

    9 h-index

    23 publications

    5.4K citations

  6. Great Ormond Street Hospital

    London, United Kingdom

    8 h-index

    30 publications

    777 citations

  7. Baylor College of Medicine

    Houston, United States

    8 h-index

    35 publications

    3.8K citations

  8. Wellcome Sanger Institute

    Cambridge, United Kingdom

    7 h-index

    23 publications

    8.3K citations

1–8 of 583

Venues

  1. Prenatal Diagnosis

    33 publications · 1.2K citations

    20

    h-index

  2. Genetics in Medicine

    GIM · 19 publications · 2.1K citations

    18

    h-index

  3. American Journal of Medical Genetics Part A

    14 publications · 284 citations

    13

    h-index

  4. Frontiers in Genetics

    10 publications · 206 citations

    10

    h-index

  5. Ultrasound in Obstetrics and Gynecology

    6 publications · 236 citations

    6

    h-index

1–5