ReviewCongenital anomalies2018
Report of four novel variants in ASNS causing asparagine synthetase deficiency and review of literature.
Review in Congenital anomalies, 2018. The graph could read no effect estimate from its abstract, so it casts no vote on the map. Cited by 10 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
10 citing papers in PubMed.
- Asparagine Synthetase Deficiency: Neuropathological Evidence of Disrupted Cortical Development.JIMD reports · 2026Article
- Case Report: a novel homozygousFrontiers in neuroscience · 2025Article
- A novel variant in ASNS gene responsible for syndromic intellectual disability and microcephaly: Case report and literature review.Molecular genetics & genomic medicine · 2024Review
- Clinical and genetic spectrum of 104 Indian families with central nervous system white matter abnormalities.Clinical genetics · 2021Article
- Effects of A6E Mutation on Protein Expression and Supramolecular Assembly of Yeast Asparagine Synthetase.Biology · 2021Article
- 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
- Asparagine synthetase deficiency: A novel case with an unusual molecular mechanism.Molecular genetics and metabolism reports · 2019Article
- Clinical outcomes of two patients with a novel pathogenic variant inHuman genome variation · 2019Article
- Novel Mutations in the Asparagine Synthetase Gene (Frontiers in genetics · 2018Article
Corrections and comments
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Authors and funding
9 authors.
Funding
Abstract
PubMed holds no abstract for this paper.
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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.