ReviewJournal of pediatric rehabilitation medicine2017
Genetic epidemiology of neural tube defects.
Review in Journal of pediatric rehabilitation medicine, 2017. The graph could read no effect estimate from its abstract, so it casts no vote on the map. Cited by 18 papers, 1 of them a synthesis 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
18 citing papers in PubMed, 1 synthesis or guideline pooled it, 29 citations in OpenAlex.
- Mapping the burden prevalence of neural tube defects across Indian regions: a systematic review and meta-analysis.The Pan African medical journal · 2025Pooled it
- Trial
- Diverse SOX3 genetic variants and their associated phenotypic spectrum in human disease.Endocrine reviews · 2026Review
- Uncovering the Genetic Landscape of Spinal Dysraphism: A Retrospective Analysis of 150 Fetal Cases.Prenatal diagnosis · 2026Article
- Spina bifida as a multifactorial birth defect: Risk factors and genetic underpinnings.Pediatric discovery · 2025Review
- Perinatal Outcomes in Patients With Neural Tube Defects in a Middle-Income Setting.Birth defects research · 2025Article
- 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
- Maternal periconceptional exposure to drinking water disinfection by-products and neural tube defects in offspring.Birth defects research · 2024Article
- Identification and functional analysis of rare HECTD1 missense variants in human neural tube defects.Human genetics · 2024Article
- Genome-wide analysis of spina bifida risk variants in a case-control study from Bangladesh.Birth defects research · 2024Article
- Identification and Functional Analysis of Rare HECTD1 Missense Variants in Human Neural Tube Defects.Research square · 2024Article
- Neural tube defects: a review of global prevalence, causes, and primary prevention.Child's nervous system : ChNS : official journal of the International Society for Pediatric Neurosurgery · 2023Review
- Implication of chromosomal microarray analysis prior to in-utero repair of fetal open neural tube defect.Ultrasound in obstetrics & gynecology : the official journal of the International Society of Ultrasound in Obstetrics and Gynecology · 2023Review
- The Mechanism of Bladder Injury in Fetal Rats With Myelomeningocele.Frontiers in neurology · 2022Article
- Understanding False Negative in Prenatal Testing.Diagnostics (Basel, Switzerland) · 2021Review
- Familial tendency in patients with lipoma of the filum terminale.Child's nervous system : ChNS : official journal of the International Society for Pediatric Neurosurgery · 2021Article
- Genome-wide association studies of structural birth defects: A review and commentary.Birth defects research · 2019Review
- Dizygotic opposite-sex twins with surgically repaired concordant myelomeningocele conceived by in vitro fertilization using intracytoplasmic sperm injection: a case report and review of the literature.Child's nervous system : ChNS : official journal of the International Society for Pediatric Neurosurgery · 2019Review
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 8 institutions in 1 country.
Funding
Abstract
It has been estimated that 60-70% of neural tube defects (NTDs) have a genetic component, but few causative genes have been identified. The lack of information on genes associated with non-syndromic NTDs in humans is especially notable as the "genomic revolution" has led to new tools (e.g., genome-wide genotyping arrays, next-generation sequencing) that are helping to elucidate the full spectrum of genetic variation (from common to rare) contributing to complex traits, including structural birth defects. However, the application of modern genomic approaches to the study of NTDs has lagged behind that of some other common structural birth defects. This may be due to the difficulty of assembling large study cohorts for anencephaly or spina bifida. The purpose of this review is to outline the evolution of genetic studies of NTDs, from studies of familial aggregation to candidate gene and genome-wide association studies, through whole-exome and whole-genome sequencing. Strategies for addressing gaps in NTD genetic research are also explored.
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.