ReviewHuman molecular genetics2009
Genetics of human neural tube defects.
Review in Human molecular genetics, 2009. The graph could read no effect estimate from its abstract, so it casts no vote on the map. Cited by 153 papers, 4 of them syntheses that pooled it.
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
153 citing papers in PubMed, 4 syntheses or guidelines pooled it, 312 citations in OpenAlex.
- Hemimyelomeningocele: a systematic review and meta-analysis of the literature.Child's nervous system : ChNS : official journal of the International Society for Pediatric Neurosurgery · 2026Pooled it
- Birth prevalence of neural tube defects and associated risk factors in Africa: a systematic review and meta-analysis.BMC pediatrics · 2021Pooled it
- MTHFD1 polymorphism as maternal risk for neural tube defects: a meta-analysis.Neurological sciences : official journal of the Italian Neurological Society and of the Italian Society of Clinical Neurophysiology · 2015Pooled it
- Knowledge and periconceptional use of folic acid for the prevention of neural tube defects in ethnic communities in the United Kingdom: systematic review and meta-analysis.Birth defects research. Part A, Clinical and molecular teratology · 2013Pooled it
- Excessive DNA Double-Strand Breaks-Associated 3D Genome Reorganization Contributes to Neural Tube Defects with Folate Deficiency.Advanced science (Weinheim, Baden-Wurttemberg, Germany) · 2025Article
- Incidental Prenatal Discovery of Anencephaly via Portable Ultrasounds in a Remote Medical Care Setting.Cureus · 2025Article
- Awareness and attitudes of pregnant women about prenatal screening and diagnostic tests from Türkiye.Journal of community genetics · 2025Article
- Human organoids potentially boost research into environmental factors of neural tube defects.Reproductive toxicology (Elmsford, N.Y.) · 2025Review
- Presentation and management of neural tube defects in the middle belt of Ghana.Child's nervous system : ChNS : official journal of the International Society for Pediatric Neurosurgery · 2025Article
- Moderate levels of folic acid benefit outcomes for cilia based neural tube defects.Developmental biology · 2025Article
- Preconceptional and Periconceptional Folic Acid Supplementation in the Visegrad Group Countries for the Prevention of Neural Tube Defects.Nutrients · 2024Review
- Associations between exposure to extreme ambient heat and neural tube defects in Georgia, USA: A population-based case-control study.Environmental research · 2024Article
- Maternal arsenic exposure modifies associations between arsenic, folate and arsenic metabolism gene variants, and spina bifida risk: A case‒control study in Bangladesh.Environmental research · 2024Article
- Congenital syndromic Chiari-like malformation (CSCM) in Holstein cattle: towards unravelling of possible genetic causes.Acta veterinaria Scandinavica · 2024Article
- Genome-wide analysis of spina bifida risk variants in a case-control study from Bangladesh.Birth defects research · 2024Article
- ARMC5 controls the degradation of most Pol II subunits, and ARMC5 mutation increases neural tube defect risks in mice and humans.Genome biology · 2024Article
- Article
- Bayesian polygenic risk estimation approach to nuclear families with discordant sib-pairs for myelomeningocele.PloS one · 2024Article
- Fetal gene therapy.Journal of inherited metabolic disease · 2024Review
- Folate deficiency reduced aberrant level of DOT1L-mediated histone H3K79 methylation causes disruptive SHH gene expression involved in neural tube defects.Epigenetics & chromatin · 2023Article
93 more citing papers are in PubMed but not listed here.
Corrections and comments
PubMed lists nothing against this paper. Absence here is not a guarantee, only a check that was made.
Authors and funding
3 authors at 1 institution in 1 country.
Funding
Abstract
Neural tube defects (NTDs) are common, severe congenital malformations whose causation involves multiple genes and environmental factors. Although more than 200 genes are known to cause NTDs in mice, there has been rather limited progress in delineating the molecular basis underlying most human NTDs. Numerous genetic studies have been carried out to investigate candidate genes in cohorts of patients, with particular reference to those that participate in folate one-carbon metabolism. Although the homocysteine remethylation gene MTHFR has emerged as a risk factor in some human populations, few other consistent findings have resulted from this approach. Similarly, attention focused on the human homologues of mouse NTD genes has contributed only limited positive findings to date, although an emerging association between genes of the non-canonical Wnt (planar cell polarity) pathway and NTDs provides candidates for future studies. Priorities for the next phase of this research include: (i) larger studies that are sufficiently powered to detect significant associations with relatively minor risk factors; (ii) analysis of multiple candidate genes in groups of well-genotyped individuals to detect possible gene-gene interactions; (iii) use of high throughput genomic technology to evaluate the role of copy number variants and to detect 'private' and regulatory mutations, neither of which have been studied to date; (iv) detailed analysis of patient samples stratified by phenotype to enable, for example, hypothesis-driven testing of candidates genes in groups of NTDs with specific defects of folate metabolism, or in groups of fetuses with well-defined phenotypes such as craniorachischisis.
Indexed as
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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.