Concepedia

Newborn Screening

Newborn Screening is a public health program that systematically tests newborn infants for a panel of congenital disorders using standardized laboratory methods to enable early detection and intervention.

3.8K

Publications

196.2K

Citations

16.1K

Authors

3.8K

Institutions

Publications per year

2017–2026

1.1K

Parents

Publications

3.8K

Physical Status: The Use and Interpretation of Anthropometry. Report of a WHO Expert Committee

Phyllis B. Eveleth · American Journal of Human Biology · 1996 · 7.4K citations

, , +17

Congenital Adrenal Hyperplasia Due to Steroid 21-Hydroxylase Deficiency: An Endocrine Society Clinical Practice Guideline

Phyllis Speiser, Ricardo Azziz, Laurence S. Baskin et al. · The Journal of Clinical Endocrinology & Metabolism · 2010 · 1.5K citations · Full text

, , +17

The Human Phenotype Ontology in 2021

Sebastian Köhler, Michael Gargano, Nicolas Matentzoglu et al. · Nucleic Acids Research · 2020 · 1.2K citations · Full text

, , +15

Guidelines for Diagnosis of Cystic Fibrosis in Newborns through Older Adults: Cystic Fibrosis Foundation Consensus Report

Philip M. Farrell, Beryl J. Rosenstein, Terry B. White et al. · The Journal of Pediatrics · 2008 · 1.1K citations · Full text

, , +9

High Incidence of Later-Onset Fabry Disease Revealed by Newborn Screening*

Marco Spada, Severo Pagliardini, Makiko Yasuda et al. · The American Journal of Human Genetics · 2006 · 1K citations · Full text

, , +13

1–5 of 3.8K

Authors

16.1K

  1. PM
    Philip M. Farrell

    University of Wisconsin–Madison, United States

    62 publications · 7.3K citations

    40

    h-index

  2. SD
    Scott D. Grosse

    National Center on Birth Defects and Developmental Disabilities, United States

    46 publications · 3.6K citations

    34

    h-index

  3. GF
    Georg F. Hoffmann

    Heidelberg University, Germany

    51 publications · 3.1K citations

    29

    h-index

  4. MC
    Michele Caggana

    New York State Department of Health, United States

    42 publications · 3.4K citations

    28

    h-index

  5. MH
    Michael H. Gelb

    University of Washington, United States

    45 publications · 2.4K citations

    28

    h-index

1–5 of 16.1K

Institutions

3.8K

  1. Centers for Disease Control and Prevention

    Atlanta, United States

    47 h-index

    292 publications

    18.2K citations

  2. Boston Children's Hospital

    Boston, United States

    46 h-index

    287 publications

    20.9K citations

  3. University of Wisconsin–Madison

    Madison, United States

    46 h-index

    326 publications

    30.7K citations

  4. University of Washington

    Seattle, United States

    45 h-index

    229 publications

    13.3K citations

  5. Heidelberg University

    Heidelberg, Germany

    41 h-index

    397 publications

    23.3K citations

  6. Harvard University

    Cambridge, United States

    39 h-index

    311 publications

    22.5K citations

  7. New York State Department of Health

    Albany, United States

    36 h-index

    236 publications

    17.3K citations

  8. National Center on Birth Defects and Developmental Disabilities

    Atlanta, United States

    36 h-index

    129 publications

    9.4K citations

1–8 of 3.8K

Venues

  1. PEDIATRICS

    275 publications · 25K citations

    87

    h-index

  2. The Journal of Pediatrics

    125 publications · 9.9K citations

    55

    h-index

  3. Journal of Inherited Metabolic Disease

    JIMD · 103 publications · 6.1K citations

    45

    h-index

  4. Genetics in Medicine

    GIM · 101 publications · 5.4K citations

    44

    h-index

  5. Clinical Chemistry

    68 publications · 5.3K citations

    43

    h-index

1–5