Evidence map›Paper›PMID 36833246›Full record

ArticleGenes2023

Phenotypic Assessment of Pathogenic Variants in

Martina Di Rocco, Serena Galosi, Francesca C Follo, Enrico Lanza, Viola Folli, Alberto Martire, Vincenzo Leuzzi, Simone Martinelli

Open access · goldAbstract read
In one paragraph

Article in Genes, 2023. The graph could read no effect estimate from its abstract, so it casts no vote on the map. Cited by 11 papers.

0numbers the graph read from it
0cells of the map it votes in
11citing papers in PubMed
1.5field-weighted citation impact, top 13% of its field
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

11 citing papers in PubMed, 17 citations in OpenAlex.

  1. Article
  2. Article
  3. Article
  4. Article
  5. Article
  6. Article
  7. Decoding GNAO1 mutations usingFrontiers in cellular neuroscience · 2025
    Review
  8. Article
  9. Article
  10. Dyskinetic crisis inFrontiers in neurology · 2024
    Article
  11. 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

8 authors at 3 institutions in 1 country.

Martina Di RoccoDepartment of Oncology and Molecular Medicine, Istituto Superiore di Sanità, 00161 Rome, Italy.ORCID 0000-0002-6666-1819
Serena GalosiDepartment of Human Neuroscience, 'Sapienza' University of Rome, 00185 Rome, Italy.
Francesca C FolloDepartment of Oncology and Molecular Medicine, Istituto Superiore di Sanità, 00161 Rome, Italy.
Enrico LanzaCenter for Life Nano Science, Istituto Italiano di Tecnologia, 00161 Rome, Italy.
Viola FolliCenter for Life Nano Science, Istituto Italiano di Tecnologia, 00161 Rome, Italy.
Alberto MartireNational Center for Drug Research and Evaluation, Istituto Superiore di Sanità, 00161 Rome, Italy.ORCID 0000-0003-0538-4704
Vincenzo LeuzziDepartment of Human Neuroscience, 'Sapienza' University of Rome, 00185 Rome, Italy.ORCID 0000-0002-2314-6139
Simone MartinelliDepartment of Oncology and Molecular Medicine, Istituto Superiore di Sanità, 00161 Rome, Italy.ORCID 0000-0002-5843-419X
Istituto Superiore di Sanità · ITItalian Institute of Technology · ITSapienza University of Rome · IT

Funding

Enhancing and expanding the CGC Strain CollectionP40OD010440 · OD · UNIVERSITY OF MINNESOTA · PI Aric L Daul, Ann E. Rougvie · 2012 to 2026
$7.5M
NIH HHS P40 OD010440
6 · The paper itself

Abstract

De novo mutations affecting the G protein α o subunit (Gαo)-encoding gene (

Indexed as

Caenorhabditis elegansEpilepsyAnimalsCaffeineGTP-Binding ProteinsMutationCaffeineGTP-Binding ProteinsCaenorhabditis eleganscaffeineepilepsyGNAO1Gαomovement disorders

Identifiers

PMID36833246
PMCPMC9957173
OpenAlexW4318206233

What OpenQuestion holds

Textmetadata
LicenceCC BY
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.