Evidence map›Paper›PMID 27883265›Full record

ReviewBirth defects research2017

Genomic approaches to the assessment of human spina bifida risk.

M Elizabeth Ross, Christopher E Mason, Richard H Finnell

Abstract readReview
In one paragraph

Review in Birth defects research, 2017. The graph could read no effect estimate from its abstract, so it casts no vote on the map. Cited by 15 papers.

0numbers the graph read from it
0cells of the map it votes in
15citing papers in PubMed
3.9field-weighted citation impact, top 6% of its field
1 · What the graph read from 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.

2 · The registry

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.

3 · Its place in the literature

Who cites it

15 citing papers in PubMed, 27 citations in OpenAlex.

  1. Article
  2. Article
  3. Article
  4. 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 · 2023
    Review
  5. Review
  6. Systems biology analysis of human genomes points to key pathways conferring spina bifida risk.Proceedings of the National Academy of Sciences of the United States of America · 2021
    Article
  7. Review
  8. Review
  9. Deciphering congenital anomalies for the next generation.Cold Spring Harbor molecular case studies · 2020
    Review
  10. Review
  11. Article
  12. Article
  13. Article
  14. Genetic epidemiology of neural tube defects.Journal of pediatric rehabilitation medicine · 2017
    Review
  15. Article
4 · The record

Corrections and comments

PubMed lists nothing against this paper. Absence here is not a guarantee, only a check that was made.

5 · Who and what money

Authors and funding

3 authors at 3 institutions in 1 country.

M Elizabeth RossCenter for Neurogenetics, Feil Family Brain and Mind Research Institute, Weill Cornell Medicine, New York, New York.
Christopher E MasonCenter for Neurogenetics, Feil Family Brain and Mind Research Institute, Weill Cornell Medicine, New York, New York.
Richard H FinnellDell Pediatric Research Institute, Department of Nutritional Sciences, The University of Texas at Austin, Austin, Texas.
Cornell University · USMIND Research Institute · USThe University of Texas at Austin · US

Funding

Risk Genes and Environment Interactions in NTDsP01HD067244 · NICHD · WEILL MEDICAL COLL OF CORNELL UNIV · PI ROSS, MARGARET ELIZABETH · 2011 to 2020
$12.6M
Epigenome Interactions in Complex Neurogenetic DisordersR01NS076465 · NINDS · WEILL MEDICAL COLL OF CORNELL UNIV · PI MASON, CHRISTOPHER EDWARD, ROSS, MARGARET ELIZABETH · 2011 to 2015
$5.8M
INTERVENTION STRATEGIES FOR NON-FOLATE RESPONSIVE NEURAL TUBE DEFECTSR01HD083809 · NICHD · UNIVERSITY OF TEXAS AT AUSTIN · PI FINNELL, RICHARD H. · 2016 to 2024
$5.1M
Folic Acid, Parental Mutation Rates and the Risk for Neural Tube DefectsR01HD081216 · NICHD · UNIVERSITY OF TEXAS AT AUSTIN · PI FINNELL, RICHARD H., LEI, YUNPING · 2015 to 2019
$2.5M
NICHD NIH HHS P01 HD067244NICHD NIH HHS R01 HD081216NICHD NIH HHS R01 HD083809NINDS NIH HHS R01 NS076465
6 · The paper itself

Abstract

Structural birth defects are a leading cause of mortality and morbidity in children world-wide, affecting as much as 6% of all live births. Among these conditions, neural tube defects (NTDs), including spina bifida and anencephaly, arise from a combination of complex gene and environment interactions that are as yet poorly understood within human populations. Rapid advances in massively parallel DNA sequencing and bioinformatics allow for analyses of the entire genome beyond the 2% of the genomic sequence covering protein coding regions. Efforts to collect and analyze these large datasets hold promise for illuminating gene network variations and eventually epigenetic events that increase individual risk for failure to close the neural tube. In this review, we discuss current challenges for DNA genome sequence analysis of NTD affected populations, and compare experience in the field with other complex genetic disorders for which large datasets are accumulating. The ultimate goal of this research is to find strategies for optimizing conditions that promote healthy birth outcomes for individual couples. Birth Defects Research 109:120-128, 2017. © 2016 Wiley Periodicals, Inc.

Indexed as

Gene-Environment InteractionGenome, HumanDatasets as TopicDNA, IntergenicFemaleFolic AcidHigh-Throughput Nucleotide SequencingHumansInfant, NewbornOpen Reading FramesPregnancyPrenatal DiagnosisRiskSpinal DysraphismDNA, IntergenicFolic Acidbiogeographycomplex genetic disordersintergenic (noncoding) sequence analysisvariant analysiswhole exome sequencing (WES)whole genome sequencing (WGS)

Identifiers

PMID27883265
PMCPMC5388593
OpenAlexW2559289650

What OpenQuestion holds

Textmetadata
LicenceTDM
Read underepoch 390

Registered trials

None linked

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.