Evidence map›Paper›PMID 28944587›Full record

ReviewAmerican journal of medical genetics. Part A2017

Finding the genetic mechanisms of folate deficiency and neural tube defects-Leaving no stone unturned.

Kit Sing Au, Tina O Findley, Hope Northrup

Abstract readReview
In one paragraph

Review in American journal of medical genetics. Part A, 2017. The graph could read no effect estimate from its abstract, so it casts no vote on the map. Cited by 23 papers.

0numbers the graph read from it
0cells of the map it votes in
23citing papers in PubMed
4.6field-weighted citation impact, top 5% 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

23 citing papers in PubMed, 44 citations in OpenAlex.

  1. Article
  2. Folate in autism neurodevelopment.Frontiers in nutrition · 2026
    Review
  3. Review
  4. Review
  5. ECI biocommentary: Tina O. Findley.Pediatric research · 2024
    Article
  6. Review
  7. Article
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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 2 institutions in 1 country.

Kit Sing AuDivision of Medical Genetics, Department of Pediatrics, University of Texas Health Science Houston-McGovern Medical School, Houston, Texas.ORCID http://orcid.org/0000-0002-2694-5833
Tina O FindleyDivision of Neonatology, Department of Pediatrics, University of Texas Health Science Houston-McGovern Medical School, Houston, Texas.ORCID http://orcid.org/0000-0002-2766-4654
Hope NorthrupDivision of Medical Genetics, Department of Pediatrics, University of Texas Health Science Houston-McGovern Medical School, Houston, Texas.
The University of Texas Health Science Center at Houston · USShriners Hospitals for Children - Houston · US

Funding

Creating a Myelomeningocele Exome Variant MapR01HD073434 · NICHD · UNIVERSITY OF TEXAS HLTH SCI CTR HOUSTON · PI AU, KIT SING · 2014 to 2018
$2.4M
NICHD NIH HHS R01 HD073434
6 · The paper itself

Abstract

Neural tube defects (NTDs) occur secondary to failed closure of the neural tube between the third and fourth weeks of gestation. The worldwide incidence ranges from 0.3 to 200 per 10,000 births with the United States of American NTD incidence at around 3-6.3 per 10,000 dependent on race and socioeconomic background. Human NTD incidence has fallen by 35-50% in North America due to mandatory folic acid fortification of enriched cereal grain products since 1998. The US Food and Drug Administration has approved the folic acid fortification of corn masa flour with the goal to further reduce the incidence of NTDs, especially among individuals who are Hispanic. However, the genetic mechanisms determining who will benefit most from folate enrichment of the diet remains unclear despite volumes of literature published on studies of association of genes with functions related to folate metabolism and risk of human NTDs. The advances in omics technologies provides hypothesis-free tools to interrogate every single gene within the genome of NTD affected individuals to discover pathogenic variants and methylation targets throughout the affected genome. By identifying genes with expression regulated by presence of folate through transcriptome profiling studies, the genetic mechanisms leading to human NTDs due to folate deficiency may begin to be more efficiently revealed.

Indexed as

FemaleFolic AcidFolic Acid DeficiencyHumansNeural TubeNeural Tube DefectsPregnancySocioeconomic FactorsUnited StatesFolic Acidfolate one-carbon metabolismgenetic associationgenetic variantshuman neural tube defectsmethylation

Identifiers

PMID28944587
PMCPMC5650505
OpenAlexW2758218135

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.