ArticleFrontiers in cellular neuroscience2019
Recessive Inheritance of Congenital Hydrocephalus With Other Structural Brain Abnormalities Caused by Compound Heterozygous Mutations in
Article in Frontiers in cellular neuroscience, 2019. The graph could read no effect estimate from its abstract, so it casts no vote on the map. Cited by 18 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
18 citing papers in PubMed, 28 citations in OpenAlex.
- Clinical and Genetic Spectrum ofNeurology. Genetics · 2026Article
- De NovoHuman mutation · 2026Article
- De novo variants disrupt an LDB1-regulated transcriptional network in congenital ventriculomegaly.Brain : a journal of neurology · 2025Article
- Computational studies on the functional and structural impact of pathogenic mutations in enzymes.Protein science : a publication of the Protein Society · 2025Review
- TRIM71 mutations cause a neurodevelopmental syndrome featuring ventriculomegaly and hydrocephalus.Brain : a journal of neurology · 2024Article
- The Genetics of Chiari 1 Malformation.Journal of clinical medicine · 2024Review
- Congenital hydrocephalus: a review of recent advances in genetic etiology and molecular mechanisms.Military Medical Research · 2024Review
- Navigating the Complexity of Alternating Hemiplegia in Childhood: A Comprehensive Review.Rambam Maimonides medical journal · 2024Review
- The genetic basis of hydrocephalus: genes, pathways, mechanisms, and global impact.Fluids and barriers of the CNS · 2024Review
- Genetic and molecular mechanisms of hydrocephalus.Frontiers in molecular neuroscience · 2024Review
- A neural stem cell paradigm of pediatric hydrocephalus.Cerebral cortex (New York, N.Y. : 1991) · 2023Article
- A Paternal Methylation Error in the Congenital Hydrocephalic Texas (H-Tx) Rat Is Partially Rescued with Natural Folate Supplements.International journal of molecular sciences · 2023Article
- Genomics of human congenital hydrocephalus.Child's nervous system : ChNS : official journal of the International Society for Pediatric Neurosurgery · 2021Article
- De novo ATP1A3 variants cause polymicrogyria.Science advances · 2021Article
- ATP1A3-Related Disorders: An Ever-Expanding Clinical Spectrum.Frontiers in neurology · 2021Review
- Choroid Plexus: The Orchestrator of Long-Range Signalling Within the CNS.International journal of molecular sciences · 2020Review
- Cytotoxic Evaluation and Anti-Angiogenic Effects of Two Furano-Sesquiterpenoids fromMolecules (Basel, Switzerland) · 2020Article
- Article
Corrections and comments
PubMed lists nothing against this paper. Absence here is not a guarantee, only a check that was made.
Authors and funding
15 authors at 4 institutions in 2 countries.
Funding
Abstract
background
methodsWe utilized whole-exome sequencing (WES), bioinformatics, and computational modeling to identify and characterize novel
resultsWe identified two germline mutations in
conclusionThese data provide the first evidence of a recessive human phenotype associated with mutations in
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.