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Article

A genetic signature of spina bifida risk from pathway-informed comprehensive gene-variant analysis.

PloS one - 1 Jan 2011

Marini Nicholas J, Hoffmann Thomas J, Lammer Edward J, Hardin Jill, Lazaruk Katherine, Stein Jason B, Gilbert Dennis A, Wright Crystal, Lipzen Anna, Pennacchio Len A, Carmichael Suzan L, Witte John S, Shaw Gary M, Rine Jasper

Abstract excerpt

Despite compelling epidemiological evidence that folic acid supplements reduce the frequency of neural tube defects (NTDs) in newborns, common variant association studies with folate metabolism genes have failed to explain the majority of NTD risk. The contribution of rare alleles as well as genetic interactions within the folate pathway have not been extensively studied in the context of NTDs. Thus, we sequenced...

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Identifiers

PMID: 22140583
DOI: 10.1371/journal.pone.0028408
PMCID: PMC3227667

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PubMed metadata and Literature Corpus relationships. Corpus snapshot updated 5 Sept 2026. Manifest publication-graph-cohort-2026-09-05.1.

Source receipt: pubmed, retrieved 5 Sept 2026.

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