ArticleFrontiers in neuroscience2019
Whole-Exome Sequencing Identifies Damaging
Article in Frontiers in neuroscience, 2019. The graph could read no effect estimate from its abstract, so it casts no vote on the map. Cited by 9 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
9 citing papers in PubMed, 16 citations in OpenAlex.
- A quest for genetic causes underlying signaling pathways associated with neural tube defects.Frontiers in pediatrics · 2023Review
- Autophagopathies: from autophagy gene polymorphisms to precision medicine for human diseases.Autophagy · 2022Article
- Overview of Neural Tube Defects: Gene-Environment Interactions, Preventative Approaches and Future Perspectives.Biomedicines · 2022Review
- WIPI proteins: Biological functions and related syndromes.Frontiers in molecular neuroscience · 2022Review
- miR-222-3p is involved in neural tube closure by directly targeting Ddit4 in RA induced NTDs mouse model.Cell cycle (Georgetown, Tex.) · 2021Article
- Identification of new candidate genes for spina bifida through exome sequencing.Child's nervous system : ChNS : official journal of the International Society for Pediatric Neurosurgery · 2021Article
- Homozygous missenseBrain communications · 2021Article
- TheFrontiers in cell and developmental biology · 2021Review
- Neonatal ten-year retrospective study on neural tube defects in a second level University Hospital.Italian journal of pediatrics · 2020Article
Corrections and comments
PubMed lists nothing against this paper. Absence here is not a guarantee, only a check that was made.
Authors and funding
12 authors at 4 institutions in 2 countries.
Funding
Abstract
backgroundAnencephaly is a lethal neural tube defect (NTD). Although variants in several genes have been implicated in the development of anencephaly, a more complete picture of variants in the genome, especially
resultsA total of 13 DNVs were identified in 8 anencephaly trios by WES, including two loss of function (LoF) variants detected in pLI > 0.9 genes (
conclusion
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.