Evidence map›Paper›PMID 32916079›Full record

ReviewAnnual review of genetics2020

Mosaicism in Human Health and Disease.

Jeremy Thorpe, Ikeoluwa A Osei-Owusu, Bracha Erlanger Avigdor, Rossella Tupler, Jonathan Pevsner

Abstract readReview
In one paragraph

Review in Annual review of genetics, 2020. The graph could read no effect estimate from its abstract, so it casts no vote on the map. Cited by 65 papers, 3 of them syntheses that pooled it.

0numbers the graph read from it
0cells of the map it votes in
65citing papers in PubMed, 3 pooled it
–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

65 citing papers in PubMed, 3 syntheses or guidelines pooled it.

  1. Gene therapy for intracranial aneurysms: systemic review.Journal of neurointerventional surgery · 2025
    Pooled it
  2. Pooled it
  3. Pooled it
  4. Article
  5. Review
  6. Article
  7. Review
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  17. Article
  18. Clonal effects of thebioRxiv : the preprint server for biology · 2025
    Article
  19. Review
  20. Review

5 more citing papers are in PubMed but not listed here.

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

5 authors.

Jeremy ThorpeDepartment of Neurology, Kennedy Krieger Institute, Baltimore, Maryland 21205, USA; email: avigdor@kennedykrieger.org, pevsner@kennedykrieger.org.
Ikeoluwa A Osei-OwusuDepartment of Neurology, Kennedy Krieger Institute, Baltimore, Maryland 21205, USA; email: avigdor@kennedykrieger.org, pevsner@kennedykrieger.org.
Bracha Erlanger AvigdorDepartment of Neurology, Kennedy Krieger Institute, Baltimore, Maryland 21205, USA; email: avigdor@kennedykrieger.org, pevsner@kennedykrieger.org.
Rossella TuplerDepartment of Molecular, Cell and Cancer Biology, University of Massachusetts Medical School, Worcester, Massachusetts 01605, USA.
Jonathan PevsnerDepartment of Neurology, Kennedy Krieger Institute, Baltimore, Maryland 21205, USA; email: avigdor@kennedykrieger.org, pevsner@kennedykrieger.org.

Funding

Sleep and Circadian Dysfunction, Brain and Neurobehavioral Development in AutismP50HD103538 · NICHD · HUGO W. MOSER RES INST KENNEDY KRIEGER · PI S. Ali Fatemi, Bradley L Schlaggar · 2020 to 2026
$9.9M
Translational Neuroscience CoreU54HD079123 · NICHD · HUGO W. MOSER RES INST KENNEDY KRIEGER · PI FATEMI, S. ALI · 2014 to 2019
$7.9M
Role of somatic mosaicism in autism, schizophrenia, and bipolar disorder brainU01MH106884 · NIMH · HUGO W. MOSER RES INST KENNEDY KRIEGER · PI PEVSNER, JONATHAN · 2015 to 2019
$2.5M
NICHD NIH HHS P50 HD103538NICHD NIH HHS U54 HD079123NIMH NIH HHS U01 MH106884
6 · The paper itself

Abstract

Mosaicism refers to the occurrence of two or more genomes in an individual derived from a single zygote. Germline mosaicism is a mutation that is limited to the gonads and can be transmitted to offspring. Somatic mosaicism is a postzygotic mutation that occurs in the soma, and it may occur at any developmental stage or in adult tissues. Mosaic variation may be classified in six ways: (

Indexed as

AnimalsChromosomesDNAGenomeGerm CellsHigh-Throughput Nucleotide SequencingHumansMitochondriaMosaicismMutationDNAgermline mutationmosaic aneuploidymosaicismsomatic mutation

Identifiers

PMID32916079
PMCPMC8483770

What OpenQuestion holds

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Registered trials

None linked

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.