ArticleGenetics in medicine : official journal of the American College of Medical Genetics2017
Utilization of genomic sequencing for population screening of immunodeficiencies in the newborn.
Article in Genetics in medicine : official journal of the American College of Medical Genetics, 2017. The graph could read no effect estimate from its abstract, so it casts no vote on the map. Cited by 24 papers, 2 of them syntheses that pooled it.
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The abstract states no effect estimate the extractor could read, or names no intervention and outcome on the map, so this paper lights no cell and moves no belief. It is still indexed, cited and linked below.
The trial behind it
Trials whose registry record cites this paper, or whose number appears in the abstract. A trial that started after this paper was published is citing it as background, not reporting it.
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Who cites it
24 citing papers in PubMed, 2 syntheses or guidelines pooled it, 38 citations in OpenAlex.
- Evaluating whole genome sequencing for rare diseases in newborn screening: evidence synthesis from a series of systematic reviews.Health technology assessment (Winchester, England) · 2025Pooled it
- Principles of Genomic Newborn Screening Programs: A Systematic Review.JAMA network open · 2021Pooled it
- Bronchiectasis in Inborn Errors of Immunity: Prevalence, Predictors, and Cardiopulmonary Complications in a Genetically Characterized Cohort.Journal of clinical immunology · 2026Observational
- Next-generation sequencing in newborn screening: Current status, challenges, and future perspectives.Pediatric investigation · 2026Review
- A State of the Art Review on the Recalcitrant Candidiasis as a Clue of Inborn Errors of Immunity in Newborns.Journal of immunology research · 2026Review
- Challenges in evaluating whole genome sequencing for newborn screening: series of systematic reviews and roadmap for evidence generation for policy advisers.BMJ medicine · 2025Article
- Bioinformatics in Neonatal/Pediatric Medicine-A Literature Review.Journal of personalized medicine · 2024Review
- Newborn screening for inborn errors of immunity: The status worldwide.The World Allergy Organization journal · 2024Article
- Newborn Screening Today and Tomorrow: A Brief Report from the International Primary Immunodeficiencies Congress.International journal of neonatal screening · 2024Article
- Genomic newborn screening for rare diseases.Nature reviews. Genetics · 2023Review
- Genomic Sequencing as a First-Tier Screening Test and Outcomes of Newborn Screening.JAMA network open · 2023Article
- Genomic-Based Newborn Screening for Inborn Errors of Immunity: Practical and Ethical Considerations.International journal of neonatal screening · 2023Article
- Future Directions in the Diagnosis and Treatment of APDS and IEI: a Survey of German IEI Centers.Frontiers in immunology · 2023Article
- Analyzing Precision Medicine Utilization with Real-World Data: A Scoping Review.Journal of personalized medicine · 2022Article
- Inborn Errors of Immunity With Fetal or Perinatal Clinical Manifestations.Frontiers in pediatrics · 2022Review
- Future Perspectives of Newborn Screening for Inborn Errors of Immunity.International journal of neonatal screening · 2021Review
- An appraisal of the Wilson & Jungner criteria in the context of genomic-based newborn screening for inborn errors of immunity.The Journal of allergy and clinical immunology · 2021Review
- A Cry for the Development of Newborn Screening for Familial Hemophagocytic Lymphohistiocytosis.Journal of clinical immunology · 2020Article
- When should genomic and exome sequencing be implemented in newborns? A call for an update to newborn screening guidelines.Genetics in medicine : official journal of the American College of Medical Genetics · 2020Article
- Value of genetic analysis for confirming inborn errors of metabolism detected through the Spanish neonatal screening program.European journal of human genetics : EJHG · 2019Article
Corrections and comments
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Authors and funding
12 authors at 3 institutions in 1 country.
Funding
No grant is acknowledged in the PubMed record.
Abstract
PurposeImmunodeficiency screening has been added to many state-directed newborn screening programs. The current methodology is limited to screening for severe T-cell lymphopenia disorders. We evaluated the potential of genomic sequencing to augment current newborn screening for immunodeficiency, including identification of non-T cell disorders.MethodsWe analyzed whole-genome sequencing (WGS) and clinical data from a cohort of 1,349 newborn-parent trios by genotype-first and phenotype-first approaches. For the genotype-first approach, we analyzed predicted protein-impacting variants in 329 immunodeficiency-related genes in the WGS data. As a phenotype-first approach, electronic health records were used to identify children with clinical features suggestive of immunodeficiency. Genomes of these children and their parents were analyzed using a separate pipeline for identification of candidate pathogenic variants for rare Mendelian disorders.ResultsWGS provides adequate coverage for most known immunodeficiency-related genes. 13,476 distinct variants and 8,502 distinct predicted protein-impacting variants were identified in this cohort; five individuals carried potentially pathogenic variants requiring expert clinical correlation. One clinically asymptomatic individual was found genomically to have complement component 9 deficiency. Of the symptomatic children, one was molecularly identified as having an immunodeficiency condition and two were found to have other molecular diagnoses.ConclusionNeonatal genomic sequencing can potentially augment newborn screening for immunodeficiency.
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