ArticleFrontiers in genetics2018
Novel Mutations in the Asparagine Synthetase Gene (
Article in Frontiers in genetics, 2018. The graph could read no effect estimate from its abstract, so it casts no vote on the map. Cited by 15 papers.
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.
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.
Who cites it
15 citing papers in PubMed, 25 citations in OpenAlex.
- Asparagine Synthetase Deficiency: Neuropathological Evidence of Disrupted Cortical Development.JIMD reports · 2026Article
- BAHCC1 promotes gene expression in neuronal cells by antagonizing SIN3A-HDAC1.Nucleic acids research · 2025Article
- Case Report: a novel homozygousFrontiers in neuroscience · 2025Article
- Gestational Interrelationships among Gut-Metabolism-Transcriptome in Regulating Early Embryo Implantation and Placental Development in Mice.Microorganisms · 2024Article
- Critical assessment of variant prioritization methods for rare disease diagnosis within the rare genomes project.Human genomics · 2024Article
- A novel variant in ASNS gene responsible for syndromic intellectual disability and microcephaly: Case report and literature review.Molecular genetics & genomic medicine · 2024Review
- Critical assessment of variant prioritization methods for rare disease diagnosis within the Rare Genomes Project.medRxiv : the preprint server for health sciences · 2023Article
- DOT1L activity affects neural stem cell division mode and reduces differentiation and ASNS expression.EMBO reports · 2023Article
- Case report: A compound heterozygous mutations inFrontiers in pediatrics · 2023Article
- Article
- Effects of A6E Mutation on Protein Expression and Supramolecular Assembly of Yeast Asparagine Synthetase.Biology · 2021Article
- Article
- A novel compound heterozygous missense mutation in ASNS broadens the spectrum of asparagine synthetase deficiency.Molecular genetics & genomic medicine · 2020Review
- Congenital microcephaly with early onset epileptic encephalopathy caused by ASNS gene mutation: A case report.Medicine · 2020Article
- Clinical outcomes of two patients with a novel pathogenic variant inHuman genome variation · 2019Article
Corrections and comments
PubMed lists nothing against this paper. Absence here is not a guarantee, only a check that was made.
Authors and funding
14 authors at 4 institutions in 1 country.
Funding
No grant is acknowledged in the PubMed record.
Abstract
Microcephaly is a devastating condition defined by a small head and small brain compared to the age- and sex-matched population. Mutations in a number of different genes causative for microcephaly have been identified, e.g.,
Indexed as
Identifiers
What OpenQuestion holds
Registered trials
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.