Evidence map›Paper›PMID 35663845›Full record

ArticleSaudi journal of biological sciences2022

Clinical whole exome sequencing revealed

Muhammad Imran Naseer, Angham Abdulrhman Abdulkareem, Mahmood Rasool, Bader Shirah, Hussein Algahtani, Osama Y Muthaffar, Peter Natesan Pushparaj

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

Article in Saudi journal of biological sciences, 2022. The graph could read no effect estimate from its abstract, so it casts no vote on the map. Cited by 1 paper.

0numbers the graph read from it
0cells of the map it votes in
1citing papers in PubMed
0.1field-weighted citation impact, top 61% 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

1 citing paper in PubMed, 1 citations in OpenAlex.

  1. 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

7 authors at 3 institutions in 1 country.

Muhammad Imran NaseerCenter of Excellence in Genomic Medicine Research, King Abdulaziz University, Jeddah, Saudi Arabia.
Angham Abdulrhman AbdulkareemCenter of Excellence in Genomic Medicine Research, King Abdulaziz University, Jeddah, Saudi Arabia.
Mahmood RasoolCenter of Excellence in Genomic Medicine Research, King Abdulaziz University, Jeddah, Saudi Arabia.
Bader ShirahDepartment of Neuroscience, King Faisal Specialist Hospital & Research Centre, Jeddah, Saudi Arabia.
Hussein AlgahtaniKing Abdulaziz Medical City, King Saud Bin Abdulaziz University for Health Sciences, Jeddah, Saudi Arabia.
Osama Y MuthaffarDepartment of Pediatrics, Faculty of Medicine, King Abdulaziz University, Jeddah, Saudi Arabia.
Peter Natesan PushparajCenter of Excellence in Genomic Medicine Research, King Abdulaziz University, Jeddah, Saudi Arabia.
King Abdulaziz University · SAKing Faisal Specialist Hospital & Research Centre · SAKing Saud bin Abdulaziz University for Health Sciences · SA

Funding

No grant is acknowledged in the PubMed record.

6 · The paper itself

Abstract

Intellectual disability and developmental encephalopathies are mostly linked with infant epilepsy. Epileptic encephalopathy is a term that is used to define association between developmental delay and epilepsy. Mutations in the

Indexed as

Developmental and Epileptic Encephalopathy 4DNA, Deoxyribonucleic acidEEG, ElectroencephalogramHeterozygousMRI, Magnetic Resonance ImagingSaudi ArabiaStop-Gain MutationSTXBP1STXBP1, Syntaxin-binding protein 1WES, Whole exom sequencing

Identifiers

PMID35663845
PMCPMC9160351
OpenAlexW4280584976

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.