Evidence map›Paper›PMID 36778911›Full record

ArticleFrontiers in genetics2022

Detailed genetic and clinical analysis of a novel

Albandary AlBakheet, Hanan AlQudairy, Joud Alkhalifah, Sheikhah Almoaily, Namik Kaya, Zuhair Rahbeeni

Abstract readCase Reports
In one paragraph

Article in Frontiers in genetics, 2022. The graph could read no effect estimate from its abstract, so it casts no vote on the map. Cited by 6 papers.

0numbers the graph read from it
0cells of the map it votes in
6citing papers in PubMed
–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. BiallelicInternational journal of molecular sciences · 2026
    Article
  2. A Report of a Child with SEC31A-Related Neurodevelopmental Disorder.International journal of molecular sciences · 2025
    Article
  3. Article
  4. Article
  5. Review
  6. 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

6 authors.

Albandary AlBakheetDepartment of Translational Genomics, Center for Genomic Medicine, King Faisal Specialist Hospital and Research Centre (KFSHRC), Riyadh, Saudi Arabia.
Hanan AlQudairyDepartment of Translational Genomics, Center for Genomic Medicine, King Faisal Specialist Hospital and Research Centre (KFSHRC), Riyadh, Saudi Arabia.
Joud AlkhalifahCollege of Medicine, King Saud University, Riyadh, Saudi Arabia.
Sheikhah AlmoailyCollege of Medicine, AlFaisal University, Riyadh, Saudi Arabia.
Namik KayaDepartment of Translational Genomics, Center for Genomic Medicine, King Faisal Specialist Hospital and Research Centre (KFSHRC), Riyadh, Saudi Arabia.
Zuhair RahbeeniDepartment of Medical Genetics, Center for Genomic Medicine, KFSHRC, Riyadh, Saudi Arabia.

Funding

No grant is acknowledged in the PubMed record.

6 · The paper itself

Abstract

PubMed holds no abstract for this paper.

Indexed as

de novoHPRT1Lesch–Nyhan syndromeRTPCRX-inactivation assay

Identifiers

PMID36778911
PMCPMC9908584

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.