Evidence map›Paper›PMID 36588752›Full record

ArticleMolecular syndromology2022

Further Evidence of a Continuum in the Clinical Spectrum of Dominant

Ghada M H Abdel-Salam, Hanan H Afifi, Sahar N Saleem, Mohamed I Gadelhak, Manar A El-Serafy, Inas S M Sayed, Mohamed S Abdel-Hamid

Open access · bronzeAbstract read
PubMed Full text at PMC Publisher
In one paragraph

Article in Molecular syndromology, 2022. 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
0.4field-weighted citation impact, top 43% 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

2 citing papers in PubMed, 3 citations in OpenAlex.

  1. Article
  2. A novel compound heterozygous variant ofFrontiers in neurology · 2024
    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 at 2 institutions in 1 country.

Ghada M H Abdel-SalamClinical Genetics Department, Human Genetics and Genome Research Division, National Research Centre, Cairo, Egypt.
Hanan H AfifiClinical Genetics Department, Human Genetics and Genome Research Division, National Research Centre, Cairo, Egypt.
Sahar N SaleemDepartment of Radiology, Cairo University, Cairo, Egypt.
Mohamed I GadelhakClinical Genetics Department, Human Genetics and Genome Research Division, National Research Centre, Cairo, Egypt.
Manar A El-SerafyClinical Genetics Department, Human Genetics and Genome Research Division, National Research Centre, Cairo, Egypt.
Inas S M SayedOrodental Genetics Department, Human Genetics and Genome Research Division, National Research Centre, Cairo, Egypt.
Mohamed S Abdel-HamidMedical Molecular Department, Human Genetics and Genome Research Division, National Research Centre, Cairo, Egypt.
National Research Centre · EGCairo University · EG

Funding

No grant is acknowledged in the PubMed record.

6 · The paper itself

Abstract

Introduction: Pathogenic variants in the PIEZO family member 2 ( Methods and Results: By candidate gene targeting guided by proper clinical evaluation and neuroimaging findings, a patient with classic MWS harboring a de novo novel variant (c.8237G>A, p.W2746*) in the C-terminal region of PIEZO2 was identified. In addition, another girl with the typical clinical features of GS is also described carrying the most prevalent reported variant (c.8057G>A, p.R2686H) in Conclusion: Phenotype analysis and a comprehensive review of the literature strongly support the previously published data and corroborate the evidence that heterozygous

Indexed as

ArthrogryposisCleft palateContinuumDandy-Walker malformationde novo variantMicrocephalyPIEZO2

Identifiers

PMID36588752
PMCPMC9801318
OpenAlexW4225015846

What OpenQuestion holds

Textmetadata
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.