Evidence map›Paper›PMID 37731250›Full record

ReviewJournal of genetics2023

A novel

Fatemeh Shakarami, Zahra Nouri, Hossein Khanahmad, Mohamadreza Ghazavi, Mohammad Amin Tabatabaiefar

Abstract readReviewCase Reports
PubMed
In one paragraph

Review in Journal of genetics, 2023. The graph could read no effect estimate from its abstract, so it casts no vote on the map. Cited by 6 papers, 1 of them a synthesis that pooled it.

0numbers the graph read from it
0cells of the map it votes in
6citing papers in PubMed, 1 pooled it
–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

6 citing papers in PubMed, 1 synthesis or guideline pooled it.

  1. Pooled it
  2. Article
  3. Article
  4. Review
  5. NCell death discovery · 2024
    Article
  6. METTL Family in Healthy and Disease.Molecular biomedicine · 2024
    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.

Fatemeh ShakaramiDepartment of Genetics and Molecular Biology, School of Medicine, Isfahan University of Medical Sciences, Isfahan 81746-73461, Iran.tabatabaiefar@med.mui.ac.ir.
Zahra Nouri
Hossein Khanahmad
Mohamadreza Ghazavi
Mohammad Amin Tabatabaiefar

Funding

No grant is acknowledged in the PubMed record.

6 · The paper itself

Abstract

Intellectual disability (ID) is a highly heterogeneous disorder, affecting 1-3% of the world's population, which is associated with a significant disorder in cognitive development, adaptive functioning and behavioural problems in human life. In this study, due to the genetic heterogeneity of the disease, the whole-exome sequencing (WES) was performed on a 13-year-old boy suffering from microcephaly. In addition, Sanger sequencing, cosegregation analysis, and structural modelling were performed to identify and verify the causative variant in the proband and obligate carriers in the family. WES revealed a novel, homozygote 10-bp deletion in the donor splice site of 2nd exon of

Indexed as

Intellectual DisabilityMicrocephalyAdolescentCognitionExonsHumansIranMale

Identifiers

PMID37731250

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.