Evidence map›Paper›PMID 39253077›Full record

ArticleFrontiers in immunology2024

Case report: Deep sequencing and long-read genome sequencing refine prior genetic analyses in families with apparent gonadal mosaicism in

Halyn Orellana, Jia Yan, Alex Paul, Mari Tokita, Yan Ding, Rajarshi Ghosh, Katie L Lewis, Joie Davis, Leila Jamal, Colleen Jodarski and 11 more

Abstract readCase Reports
PubMed Full text at PMC Publisher
In one paragraph

Article in Frontiers in immunology, 2024. The graph could read no effect estimate from its abstract, so it casts no vote on the map. Cited by 2 papers.

0numbers the graph read from it
0cells of the map it votes in
2citing papers in PubMed
–field-weighted citation impact
1 · What the graph read from it

What it found

Each row is one number read from the abstract, on the scale the paper reported it, with its interval. Left of the dashed line favours the treatment, right favours the comparator. Under each row is the sentence it came from. New to these charts? A ten-minute tutorial.

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.

2 · The registry

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.

Neither the registry nor the abstract names a trial number. If this is a trial report, that itself is worth knowing.

3 · Its place in the literature

Who cites it

2 citing papers in PubMed.

  1. Clinical relevance of mosaic variants detected by exome sequencing.The Journal of allergy and clinical immunology · 2026
    Article
  2. Review
4 · The record

Corrections and comments

PubMed lists nothing against this paper. Absence here is not a guarantee, only a check that was made.

5 · Who and what money

Authors and funding

21 authors.

Halyn OrellanaNational Institute of Allergy and Infectious Diseases, National Institutes of Health, Bethesda, MD, United States.
Jia YanNational Institute of Allergy and Infectious Diseases, National Institutes of Health, Bethesda, MD, United States.
Alex PaulDepartment of Pediatrics, Division of Rheumatology & Immunology, Washington University School of Medicine in St. Louis, St. Louis, MO, United States.
Mari TokitaNational Institute of Allergy and Infectious Diseases, National Institutes of Health, Bethesda, MD, United States.
Yan DingInfinity-Biologix LLC (D/B/A SAMPLED), Piscataway, NJ, United States.
Rajarshi GhoshNational Institute of Allergy and Infectious Diseases, National Institutes of Health, Bethesda, MD, United States.
Katie L LewisNational Institute of Allergy and Infectious Diseases, National Institutes of Health, Bethesda, MD, United States.
Joie DavisNational Institute of Allergy and Infectious Diseases, National Institutes of Health, Bethesda, MD, United States.
Leila JamalNational Institute of Allergy and Infectious Diseases, National Institutes of Health, Bethesda, MD, United States.
Colleen JodarskiNational Institute of Allergy and Infectious Diseases, National Institutes of Health, Bethesda, MD, United States.
Morgan SimilukNational Institute of Allergy and Infectious Diseases, National Institutes of Health, Bethesda, MD, United States.
Nermina SaucierDepartment of Pediatrics, Division of Rheumatology & Immunology, Washington University School of Medicine in St. Louis, St. Louis, MO, United States.
Zhanyang ZhuInfinity-Biologix LLC (D/B/A SAMPLED), Piscataway, NJ, United States.
Yihe WangInfinity-Biologix LLC (D/B/A SAMPLED), Piscataway, NJ, United States.
Sitao WuInfinity-Biologix LLC (D/B/A SAMPLED), Piscataway, NJ, United States.
Jason RuggieriInfinity-Biologix LLC (D/B/A SAMPLED), Piscataway, NJ, United States.
Helen C SuNational Institute of Allergy and Infectious Diseases, National Institutes of Health, Bethesda, MD, United States.
Gulbu UzelNational Institute of Allergy and Infectious Diseases, National Institutes of Health, Bethesda, MD, United States.
Shareef NahasInfinity-Biologix LLC (D/B/A SAMPLED), Piscataway, NJ, United States.
Megan CooperDepartment of Pediatrics, Division of Rheumatology & Immunology, Washington University School of Medicine in St. Louis, St. Louis, MO, United States.
Magdalena A WalkiewiczNational Institute of Allergy and Infectious Diseases, National Institutes of Health, Bethesda, MD, United States.

Funding

No grant is acknowledged in the PubMed record.

6 · The paper itself

Abstract

Gonadal and gonosomal mosaicism describe phenomena in which a seemingly healthy individual carries a genetic variant in a subset of their gonadal tissue or gonadal and somatic tissue(s), respectively, with risk of transmitting the variant to their offspring. In families with one or more affected offspring, occurrence of the same apparently

Indexed as

Class I Phosphatidylinositol 3-KinasesHigh-Throughput Nucleotide SequencingMosaicismPedigreeAdultChildFemaleGenetic Predisposition to DiseaseGonadsHumansMaleMutationClass I Phosphatidylinositol 3-KinasesPIK3CD protein, humangonadal mosaicismgonosomal mosaicisminborn errors of immunityPIK3CDprimary immunodeficiency diseases

Identifiers

PMID39253077
PMCPMC11381395

What OpenQuestion holds

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Registered trials

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Read under generation 80e0d062 · epoch 390. Bibliography from PubMed, PubMed Central and OpenAlex; grants from NIH RePORTER; trial links from ClinicalTrials.gov; estimates, votes and beliefs from the OpenQuestion graph.