Concepedia

Neonatal Genetics

Neonatal Genetics is a subfield of medical genetics and neonatology that focuses on the identification, characterization, and clinical management of genetic and genomic factors underlying health and disease in the fetus and newborn during the perinatal and early postnatal periods.

1.4K

Publications

65.1K

Citations

9.5K

Authors

2.3K

Institutions

Publications per year

2017–2026

374

Parents

Children

Publications

1.4K

Rapid Whole-Genome Sequencing for Genetic Disease Diagnosis in Neonatal Intensive Care Units

Carol Saunders, Neil Miller, Sarah Soden et al. · Science Translational Medicine · 2012 · 678 citations

, , +17

A mutation in the surfactant protein B gene responsible for fatal neonatal respiratory disease in multiple kindreds.

Lawrence M. Nogee, Gérard Garnier, Hal Dietz et al. · Journal of Clinical Investigation · 1994 · 567 citations · Full text

, , +15

Newborn Screening: Toward a Uniform Screening Panel and System—Executive Summary

Michael S. Watson, Marie Y. Mann, Michele A. Lloyd-Puryear et al. · PEDIATRICS · 2006 · 501 citations

, , +17

Targeted disruption of NMDA receptor 1 gene abolishes NMDA response and results in neonatal death

Douglas Forrest, Michisuke Yuzaki, Holly Soares et al. · Neuron · 1994 · 495 citations

, , +15

Use of Exome Sequencing for Infants in Intensive Care Units

Linyan Meng, Mohan Pammi, Anirudh Saronwala et al. · JAMA Pediatrics · 2017 · 431 citations · Full text

, , +14

1–5 of 1.4K

Authors

9.5K

  1. SE
    Sian Ellard

    University of Exeter, United Kingdom

    32 publications · 3.1K citations

    24

    h-index

  2. AT
    Andrew T. Hattersley

    University of Exeter, United Kingdom

    26 publications · 2.9K citations

    21

    h-index

  3. SE
    Sarah E. Flanagan

    University of Exeter, United Kingdom

    27 publications · 2.3K citations

    19

    h-index

  4. IK
    I. Karen Temple

    University of Southampton, United Kingdom

    15 publications · 1.5K citations

    15

    h-index

  5. LY
    Lin Yang

    Children's Hospital of Fudan University, China

    13 publications · 460 citations

    13

    h-index

1–5 of 9.5K

Institutions

2.3K

  1. Boston Children's Hospital

    Boston, United States

    32 h-index

    212 publications

    20.5K citations

  2. Baylor College of Medicine

    Houston, United States

    28 h-index

    212 publications

    35.4K citations

  3. Harvard University

    Cambridge, United States

    27 h-index

    205 publications

    22.9K citations

  4. Inserm

    Paris, France

    23 h-index

    138 publications

    9.2K citations

  5. University of California, San Francisco

    San Francisco, United States

    20 h-index

    64 publications

    7.1K citations

  6. Brigham and Women's Hospital

    Boston, United States

    20 h-index

    91 publications

    11K citations

  7. University of Exeter

    Exeter, United Kingdom

    20 h-index

    122 publications

    10.3K citations

  8. Cincinnati Children's Hospital Medical Center

    Cincinnati, United States

    19 h-index

    58 publications

    2.7K citations

1–8 of 2.3K

Venues

  1. PEDIATRICS

    45 publications · 3.9K citations

    34

    h-index

  2. The Journal of Pediatrics

    57 publications · 2.8K citations

    31

    h-index

  3. Genetics in Medicine

    GIM · 42 publications · 2.2K citations

    30

    h-index

  4. Pediatric Research

    50 publications · 1.8K citations

    27

    h-index

  5. Molecular Genetics and Metabolism

    32 publications · 1.3K citations

    23

    h-index

1–5