Evidence map›Paper›PMID 36980870›Full record

ArticleGenes2023

Eliane Chouery, Jana Makhlouf, Wassim Daoud Khatoun, Cybel Mehawej, Andre Megarbane

Open access · goldFull text readCase Reports
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 4 papers.

0numbers the graph read from it
0cells of the map it votes in
4citing papers in PubMed
1.4field-weighted citation impact, top 20% 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

4 citing papers in PubMed, 8 citations in OpenAlex.

  1. The intracellular domain of the epilepsy protein PCDH19 regulates spine density in cortical neurons in vivo viaThe Journal of neuroscience : the official journal of the Society for Neuroscience · 2026
    Article
  2. Article
  3. Article
  4. Genes · 2023
    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

5 authors at 2 institutions in 2 countries.

Eliane ChoueryDepartment of Human Genetics, Gilbert and Rose-Marie Chagoury School of Medicine, Lebanese American University, Byblos 1102-2801, Lebanon.ORCID 0000-0002-6257-6609
Jana MakhloufGilbert and Rose-Marie Chagoury School of Medicine, Lebanese American University, Byblos 1102-2801, Lebanon.ORCID 0000-0002-1190-2582
Wassim Daoud KhatounGilbert and Rose-Marie Chagoury School of Medicine, Lebanese American University, Byblos 1102-2801, Lebanon.ORCID 0000-0001-6515-5722
Cybel MehawejDepartment of Human Genetics, Gilbert and Rose-Marie Chagoury School of Medicine, Lebanese American University, Byblos 1102-2801, Lebanon.
Andre MegarbaneDepartment of Human Genetics, Gilbert and Rose-Marie Chagoury School of Medicine, Lebanese American University, Byblos 1102-2801, Lebanon.ORCID 0000-0003-0714-2469
Lebanese American University · LBFondation Jérôme-Lejeune · FR

Funding

No grant is acknowledged in the PubMed record.

6 · The paper itself

Abstract

backgroundAutism spectrum disorder (ASD) is a complex developmental disability that impairs the social communication and interaction of affected individuals and leads to restricted or repetitive behaviors or interests. ASD is genetically heterogeneous, with inheritable and de novo genetic variants in more than hundreds of genes contributing to the disease. However, these account for only around 20% of cases, while the molecular basis of the majority of cases remains unelucidated as of yet. MATERIAL AND

methodsTwo unrelated Lebanese patients, a 7-year-old boy (patient A) and a 4-year-old boy (patient B), presenting with ASD were included in this study. Whole-exome sequencing (WES) was carried out for these patients to identify the molecular cause of their diseases.

resultsWES analysis revealed hemizygous variants in

conclusionHere, we report hemizygous

Indexed as

Autism Spectrum DisorderAutistic DisorderProtocadherinsChildChild, PreschoolEpilepsyFemaleHumansIntellectual DisabilityMalePCDH19 protein, humanProtocadherinsautism spectrum disordersPCDH19variant of unknown significancewhole-exome sequencing

Identifiers

PMID36980870
PMCPMC10048232
OpenAlexW4322501142

What OpenQuestion holds

Textfull text, public
LicenceCC BY
reference markers read3
measurements read5
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.