ArticleHuman genome variation2019
Clinical outcomes of two patients with a novel pathogenic variant in
Article in Human genome variation, 2019. 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
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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, 31 citations in OpenAlex.
- Asparagine Synthetase Deficiency: Neuropathological Evidence of Disrupted Cortical Development.JIMD reports · 2026Article
- 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
- Metabolomic Profiling of Asparagine Deprivation in Asparagine Synthetase Deficiency Patient-Derived Cells.Nutrients · 2023Article
- Characterizing asparagine synthetase deficiency variants in lymphoblastoid cell lines.JIMD reports · 2023Article
- Case report: A compound heterozygous mutations inFrontiers in pediatrics · 2023Article
- A method for measurement of human asparagine synthetase (ASNS) activity and application to ASNS protein variants associated with ASNS deficiency.Biology methods & protocols · 2023Article
- Review
- Association of sub-acute changes in plasma amino acid levels with long-term brain pathologies in a rat model of moderate-severe traumatic brain injury.Frontiers in neuroscience · 2022Article
- Effects of A6E Mutation on Protein Expression and Supramolecular Assembly of Yeast Asparagine Synthetase.Biology · 2021Article
- Clinical, molecular, and biochemical delineation of asparagine synthetase deficiency in Saudi cohort.Genetics in medicine : official journal of the American College of Medical Genetics · 2020Article
- A novel compound heterozygous missense mutation in ASNS broadens the spectrum of asparagine synthetase deficiency.Molecular genetics & genomic medicine · 2020Review
- Asparagine synthetase deficiency: A novel case with an unusual molecular mechanism.Molecular genetics and metabolism reports · 2019Article
- Genotype-Phenotype Correlations in Charcot-Marie-Tooth Disease Due toFrontiers in neuroscience · 2019Article
Corrections and comments
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Authors and funding
10 authors at 3 institutions in 2 countries.
Funding
No grant is acknowledged in the PubMed record.
Abstract
Asparagine synthetase deficiency (ASNSD, OMIM #615574) is a rare autosomal recessive neurometabolic inborn error that leads to severe cognitive impairment. It manifests with microcephaly, intractable seizures, and progressive cerebral atrophy. Currently, there is no established treatment for this condition. In our pediatric cohort, we discovered, by whole-exome sequencing in two siblings from Turkey, a novel homozygous missense mutation in asparagine synthetase at NM_133436.3 (
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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.