Genome‐wide analysis of spina bifida risk variants in a case–control study from Bangladesh

G Tindula, B Issac, SK Mukherjee… - Birth Defects …, 2024 - Wiley Online Library
Background Human studies of genetic risk factors for neural tube defects, severe birth
defects associated with long‐term health consequences in surviving children, have …

Epidemiologic and genetic aspects of spina bifida and other neural tube defects

KS Au, A Ashley‐Koch… - Developmental disabilities …, 2010 - Wiley Online Library
The worldwide incidence of neural tube defects (NTDs) ranges from 1.0 to 10.0 per 1,000
births with almost equal frequencies between two major categories: anencephaly and spina …

Genomic approaches to the assessment of human spina bifida risk

ME Ross, CE Mason, RH Finnell - Birth defects research, 2017 - Wiley Online Library
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 …

Whole genomewide linkage screen for neural tube defects reveals regions of interest on chromosomes 7 and 10

E Rampersaud, AG Bassuk, DS Enterline… - Journal of medical …, 2005 - jmg.bmj.com
Neural tube defects (NTDs) are the second most common birth defects (1 in 1000 live births)
in the world. Periconceptional maternal folate supplementation reduces NTD risk by 50 …

[HTML][HTML] A genetic signature of spina bifida risk from pathway-informed comprehensive gene-variant analysis

NJ Marini, TJ Hoffmann, EJ Lammer, J Hardin… - PLoS …, 2011 - journals.plos.org
Despite compelling epidemiological evidence that folic acid supplements reduce the
frequency of neural tube defects (NTDs) in newborns, common variant association studies …

[HTML][HTML] Genome-wide investigation identifies a rare copy-number variant burden associated with human spina bifida

P Wolujewicz, V Aguiar-Pulido, A AbdelAleem… - Genetics in …, 2021 - nature.com
Purpose Next-generation sequencing has implicated some risk variants for human spina
bifida (SB), but the genome-wide contribution of structural variation to this complex genetic …

Spina bifida subtypes and sub‐phenotypes by maternal race/ethnicity in the National Birth Defects Prevention Study

AJ Agopian, MA Canfield, RS Olney… - American Journal of …, 2012 - Wiley Online Library
Spina bifida refers to a collection of neural tube defects, including myelomeningocele,
meningocele, and myelocele (SBM), as well as lipomyelomeningocele and lipomeningocele …

Whole exome sequencing identifies potential candidate genes for spina bifida derived from mouse models

C Wang, S Seltzsam, B Zheng, CHW Wu… - American Journal of …, 2022 - Wiley Online Library
Spina bifida (SB) is the second most common nonlethal congenital malformation. The
existence of monogenic SB mouse models and human monogenic syndromes with SB …

[HTML][HTML] Replication and exploratory analysis of 24 candidate risk polymorphisms for neural tube defects

F Pangilinan, AM Molloy, JL Mills, JF Troendle… - BMC medical …, 2014 - Springer
Abstract Background Neural tube defects (NTDs), which are among the most common
congenital malformations, are influenced by environmental and genetic factors. Low …

[HTML][HTML] 118 SNPs of folate-related genes and risks of spina bifida and conotruncal heart defects

GM Shaw, W Lu, H Zhu, W Yang, FBS Briggs… - BMC medical …, 2009 - Springer
Background Folic acid taken in early pregnancy reduces risks for delivering offspring with
several congenital anomalies. The mechanism by which folic acid reduces risk is unknown …