Whole exome sequencing identifies novel predisposing genes in neural tube defects

P Lemay, P De Marco, M Traverso… - Molecular genetics & …, 2019 - Wiley Online Library
Background Neural tube defects (NTD) are among the most common defects affecting 1:
1000 births. They are caused by a failure of neural tube closure during development. Their …

Missing genetic risk in neural tube defects: can exome sequencing yield an insight?

DR Krupp, KL Soldano, ME Garrett… - … Research Part A …, 2014 - Wiley Online Library
Background: Neural tube defects (NTD) have a strong genetic component, with up to 70% of
variance in human prevalence determined by heritable factors. Although the identification of …

Toward understanding the genetic basis of neural tube defects

Z Kibar, V Capra, P Gros - Clinical genetics, 2007 - Wiley Online Library
Neural tube defects (NTDs) represent a common group of severe congenital malformations
that result from failure of neural tube closure during early development. Their etiology is …

Genetic basis of neural tube defects

AG Bassuk, Z Kibar - Seminars in pediatric neurology, 2009 - Elsevier
Neural tube defects (NTDs) represent a common group of severe congenital malformations
of the central nervous system. They result from failure of neural tube closure during early …

Unraveling the complex genetics of neural tube defects: From biological models to human genomics and back

P Wolujewicz, JW Steele, JA Kaltschmidt, RH Finnell… - Genesis, 2021 - Wiley Online Library
Neural tube defects (NTDs) are a classic example of preventable birth defects for which
there is a proven‐effective intervention, folic acid (FA); however, further methods of …

Genetic epidemiology of neural tube defects

PJ Lupo, AJ Agopian, H Castillo… - Journal of pediatric …, 2017 - content.iospress.com
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 …

Association between rare variants in specific functional pathways and human neural tube defects multiple subphenotypes

J Zou, F Wang, X Yang, H Wang, L Niswander… - Neural …, 2020 - Springer
Abstract Background Neural tube defects (NTDs) are failure of neural tube closure, which
includes multiple central nervous system phenotypes. More than 300 mouse mutant strains …

Current perspectives on the genetic causes of neural tube defects

P De Marco, E Merello, S Mascelli, V Capra - neurogenetics, 2006 - Springer
Neural tube defects (NTDs) are a group of severe congenital abnormalities resulting from
the failure of neurulation. The pattern of inheritance of these complex defects is …

The search for genetic determinants of human neural tube defects

P Wolujewicz, ME Ross - Current opinion in pediatrics, 2019 - journals.lww.com
The search for genetic determinants of human neural tube def... : Current Opinion in
Pediatrics The search for genetic determinants of human neural tube defects : Current …

Identification of new candidate genes for spina bifida through exome sequencing

A Azzarà, C Rendeli, AM Crivello, F Brugnoletti… - Child's Nervous …, 2021 - Springer
Purpose Neural tube defects are a group of birth defects caused by failure of neural tube
closure during development. The etiology of NTD, requiring a complex interaction between …