Evidence map›Paper›PMID 32771470›Full record

Observational studyThe Journal of investigative dermatology2021

Identification of a Mosaic Activating Mutation in GNA11 in Atypical Sturge-Weber Syndrome.

Jeremy Thorpe, Laurence P Frelin, Meghan McCann, Carlos A Pardo, Bernard A Cohen, Anne M Comi, Jonathan Pevsner

Abstract readLetterObservational Study
In one paragraph

Observational study in The Journal of investigative dermatology, 2021. The graph could read no effect estimate from its abstract, so it casts no vote on the map. Cited by 20 papers.

0numbers the graph read from it
0cells of the map it votes in
20citing 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

20 citing papers in PubMed.

  1. Review
  2. Observational
  3. Article
  4. Observational
  5. Transcriptomic Profiling Unveils EDN3Advanced science (Weinheim, Baden-Wurttemberg, Germany) · 2025
    Article
  6. Article
  7. Somatic Mosaicism in Brain Disorders.Annual review of pathology · 2025
    Review
  8. Review
  9. Article
  10. Sturge-Weber syndrome: an update for the pediatrician.World journal of pediatrics : WJP · 2024
    Review
  11. Review
  12. Review
  13. Article
  14. Article
  15. Review
  16. Review
  17. Review
  18. Article
  19. Review
  20. Article
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

7 authors.

Jeremy ThorpeProgram in Biochemistry, Cellular and Molecular Biology, Johns Hopkins School of Medicine, Baltimore, Maryland, USA.
Laurence P FrelinDepartment of Neurology, Kennedy Krieger Institute, Baltimore, Maryland, USA.
Meghan McCannDepartment of Neurology, Kennedy Krieger Institute, Baltimore, Maryland, USA.
Carlos A PardoDepartment of Neurology, Johns Hopkins School of Medicine, Baltimore, Maryland, USA.
Bernard A CohenDepartment of Dermatology, Johns Hopkins School of Medicine, Baltimore, Maryland, USA.
Anne M ComiDepartment of Neurology, Kennedy Krieger Institute, Baltimore, Maryland, USA; Department of Neurology, Johns Hopkins School of Medicine, Baltimore, Maryland, USA; Department of Pediatrics, Johns Hopkins School of Medicine, Baltimore, Maryland, USA.
Jonathan PevsnerProgram in Biochemistry, Cellular and Molecular Biology, Johns Hopkins School of Medicine, Baltimore, Maryland, USA; Department of Neurology, Kennedy Krieger Institute, Baltimore, Maryland, USA; Department of Psychiatry and Behavioral Sciences, Johns Hopkins School of Medicine, Baltimore, Maryland, USA. Electronic address: pevsner@kennedykrieger.org.

Funding

VCRC Administration UnitU54NS065705 · NINDS · UNIVERSITY OF CALIFORNIA, SAN FRANCISCO · PI FAUGHNAN, MARIE E · 2009 to 2023
$20.8M
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 MH106884NINDS NIH HHS U54 NS065705
6 · The paper itself

Abstract

PubMed holds no abstract for this paper.

Indexed as

AdolescentBrainChild, PreschoolDNA Mutational AnalysisExome SequencingFemaleGain of Function MutationGTP-Binding Protein alpha SubunitsHumansMaleMiddle AgedMosaicismSkinSturge-Weber SyndromeYoung AdultGNA11 protein, humanGTP-Binding Protein alpha Subunits

Identifiers

PMID32771470
PMCPMC8483769

What OpenQuestion holds

Textmetadata
LicenceTDM
Read underepoch 390

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.