Evidence map›Paper›PMID 38567172›Full record

ArticleJournal of pediatric genetics2024

Revisiting Exome Data Identified Missed Splice Site Variant of the Asparagine Synthetase (

Ghalia Al-Kasbi, Fathiya Al-Murshedi, Amna Al-Futaisi, Tariq Al-Jabry, Fahad Zadjali, Said Al-Yahyaee, Almundher Al-Maawali

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

Article in Journal of pediatric genetics, 2024. The graph could read no effect estimate from its abstract, so it casts no vote on the map. Not yet cited in PubMed.

0numbers the graph read from it
0cells of the map it votes in
0citing papers in PubMed
–field-weighted citation impact, top 86% 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

0 citing papers in PubMed, 0 citations in OpenAlex.

No citing paper in PubMed yet.

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.

Ghalia Al-KasbiDepartment of Genetics, College of Medicine and Health Sciences, Sultan Qaboos University, Muscat, Oman.
Fathiya Al-MurshediDepartment of Genetics, College of Medicine and Health Sciences, Sultan Qaboos University, Muscat, Oman.
Amna Al-FutaisiDepartment of Child Health, College of Medicine and Health Sciences, Sultan Qaboos University, Muscat, Oman.
Tariq Al-JabryDepartment of Genetics, College of Medicine and Health Sciences, Sultan Qaboos University, Muscat, Oman.
Fahad ZadjaliDepartment of Clinical Biochemistry, College of Medicine and Health Sciences, Sultan Qaboos University, Muscat, Oman.
Said Al-YahyaeeDepartment of Genetics, College of Medicine and Health Sciences, Sultan Qaboos University, Muscat, Oman.
Almundher Al-MaawaliDepartment of Genetics, College of Medicine and Health Sciences, Sultan Qaboos University, Muscat, Oman.ORCID 0000-0002-1404-8887
Sultan Qaboos University · OMSultan Qaboos University Hospital · OM

Funding

No grant is acknowledged in the PubMed record.

6 · The paper itself

Abstract

Next-generation sequencing, such as whole-exome sequencing (WES), is increasingly used in the study of Mendelian disorders, yet many are reported as "negative." Inappropriate variant annotation and filtering steps are reasons for missing the molecular diagnosis. Noncoding variants, including splicing mutations, are examples of variants that can be overlooked. Herein, we report a family of four affected newborns, and all presented with severe congenital microcephaly. Initial research WES analysis identified a damaging homozygous variant in

Indexed as

ASNScandidate genesmicrocephalyNME1whole-exome sequencing

Identifiers

PMID38567172
PMCPMC10984708
OpenAlexW4306147771

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.