Evidence map›Paper›PMID 37502193›Full record

ArticleFrontiers in pediatrics2023

Novel compound heterozygous variants (c.971delA/c.542C > T) in

Feda E Mohamed, Mohammad A Ghattas, Taleb M Almansoori, Mohammed Tabouni, Ibrahim Baydoun, Praseetha Kizhakkedath, Anne John, Hiba Alblooshi, Qudsia Shaukat, Fatma Al-Jasmi

Open access · goldAbstract read
In one paragraph

Article in Frontiers in pediatrics, 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
0.4field-weighted citation impact, top 36% 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, 2 citations in OpenAlex.

  1. Case Report of Dual Variants inClinical case reports · 2026
    Article
  2. Article
  3. Review
  4. Expanding the Phenotypic Spectrum ofJournal of investigative medicine high impact case reports
    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

10 authors at 3 institutions in 1 country.

Feda E MohamedDepartment of Genetics and Genomics, College of Medicine and Health Sciences, United Arab Emirates University, Al Ain, United Arab Emirates.
Mohammad A GhattasCollege of Pharmacy, Al Ain University, Al Ain, United Arab Emirates.
Taleb M AlmansooriDepartment of Radiology, College of Medicine and Health Sciences, United Arab Emirates University, Al Ain, United Arab Emirates.
Mohammed TabouniDepartment of Genetics and Genomics, College of Medicine and Health Sciences, United Arab Emirates University, Al Ain, United Arab Emirates.
Ibrahim BaydounDepartment of Genetics and Genomics, College of Medicine and Health Sciences, United Arab Emirates University, Al Ain, United Arab Emirates.
Praseetha KizhakkedathDepartment of Genetics and Genomics, College of Medicine and Health Sciences, United Arab Emirates University, Al Ain, United Arab Emirates.
Anne JohnDepartment of Genetics and Genomics, College of Medicine and Health Sciences, United Arab Emirates University, Al Ain, United Arab Emirates.
Hiba AlblooshiDepartment of Genetics and Genomics, College of Medicine and Health Sciences, United Arab Emirates University, Al Ain, United Arab Emirates.
Qudsia ShaukatDepartment of Pediatrics, Tawam Hospital, Al Ain, United Arab Emirates.
Fatma Al-JasmiDepartment of Genetics and Genomics, College of Medicine and Health Sciences, United Arab Emirates University, Al Ain, United Arab Emirates.
United Arab Emirates University · AETawam Hospital · AEAl Ain University · AE

Funding

No grant is acknowledged in the PubMed record.

6 · The paper itself

Abstract

Spastic tetraplegia, thin corpus callosum, and progressive microcephaly (SPATCCM) are linked to

Indexed as

amino acid transportermicrocephalyseizurespasticityspastic tetraplegia

Identifiers

PMID37502193
PMCPMC10369183
OpenAlexW4384023620

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.