Evidence map›Paper›PMID 36873094›Full record

ArticleJIMD reports2023

Characterizing asparagine synthetase deficiency variants in lymphoblastoid cell lines.

Stephen J Staklinski, Mario C Chang, Rebecca C Ahrens-Nicklas, Shagun Kaur, Arianna K Stefanatos, Elizabeth E Dudenhausen, Matthew E Merritt, Michael S Kilberg

Open access · goldAbstract read
In one paragraph

Article in JIMD reports, 2023. The graph could read no effect estimate from its abstract, so it casts no vote on the map. Cited by 7 papers.

0numbers the graph read from it
0cells of the map it votes in
7citing papers in PubMed
1.8field-weighted citation impact, top 17% 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

7 citing papers in PubMed, 10 citations in OpenAlex.

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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

8 authors at 3 institutions in 1 country.

Stephen J StaklinskiDepartment of Biochemistry and Molecular Biology University of Florida College of Medicine Gainesville Florida USA.ORCID https://orcid.org/0000-0002-1746-6320
Mario C ChangDepartment of Biochemistry and Molecular Biology University of Florida College of Medicine Gainesville Florida USA.
Rebecca C Ahrens-NicklasDivision of Human Genetics, Department of Pediatrics Children's Hospital of Philadelphia Philadelphia Pennsylvania USA.
Shagun KaurDivision of Human Genetics, Department of Pediatrics Children's Hospital of Philadelphia Philadelphia Pennsylvania USA.
Arianna K StefanatosDepartment of Child and Adolescent Psychiatry and Behavioral Sciences Children's Hospital of Philadelphia Philadelphia Pennsylvania USA.
Elizabeth E DudenhausenDepartment of Biochemistry and Molecular Biology University of Florida College of Medicine Gainesville Florida USA.
Matthew E MerrittDepartment of Biochemistry and Molecular Biology University of Florida College of Medicine Gainesville Florida USA.
Michael S KilbergDepartment of Biochemistry and Molecular Biology University of Florida College of Medicine Gainesville Florida USA.ORCID https://orcid.org/0000-0002-6009-3822
University of Florida · USChildren's Hospital of Philadelphia · USCold Spring Harbor Laboratory · US

Funding

Asparagine Synthetase DeficiencyR21HD100576 · NICHD · UNIVERSITY OF FLORIDA · PI KILBERG, MICHAEL S. · 2020 to 2021
$419k
NICHD NIH HHS R21 HD100576
6 · The paper itself

Abstract

Asparagine synthetase (ASNS) catalyzes the synthesis of asparagine (Asn) from aspartate and glutamine. Biallelic mutations in the

Indexed as

amino acidsepilepsyinborn errorsmetabolismmicrocephaly

Identifiers

PMID36873094
PMCPMC9981421
OpenAlexW4313646956

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.