Loss-of-function de novo mutations play an important role in severe human neural tube defects

P Lemay, MC Guyot, É Tremblay… - Journal of medical …, 2015 - jmg.bmj.com
Background Neural tube defects (NTDs) are very common and severe birth defects that are
caused by failure of neural tube closure and that have a complex aetiology. Anencephaly …

A targeted sequencing panel identifies rare damaging variants in multiple genes in the cranial neural tube defect, anencephaly

M Ishida, T Cullup, C Boustred, C James… - Clinical …, 2018 - Wiley Online Library
Neural tube defects (NTDs) affecting the brain (anencephaly) are lethal before or at birth,
whereas lower spinal defects (spina bifida) may lead to lifelong neurological handicap …

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 …

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 …

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 …

Genetic basis of neural tube defects

AJ Copp, P Stanier, NDE Greene - Textbook of pediatric neurosurgery, 2020 - Springer
Neural tube defects (NTDs) are common, often severe congenital malformations of the
central nervous system. Anencephaly and open spina bifida (myelomeningocele) arise from …

Genetic and functional analysis of SHROOM1-4 in a Chinese neural tube defect cohort

Z Chen, L Kuang, RH Finnell, H Wang - Human genetics, 2018 - Springer
Neural tube defects (NTDs), which include spina bifida and anencephaly, are the second
most common form of human structural congenital malformations. While it is well established …

Copy number variation analysis implicates the cell polarity gene glypican 5 as a human spina bifida candidate gene

AG Bassuk, LB Muthuswamy, R Boland… - Human molecular …, 2013 - academic.oup.com
Neural tube defects (NTDs) are common birth defects of complex etiology. Family and
population-based studies have confirmed a genetic component to NTDs. However, despite …

Genetic, epigenetic, and environmental contributions to neural tube closure

JJ Wilde, JR Petersen, L Niswander - Annual review of genetics, 2014 - annualreviews.org
The formation of the embryonic brain and spinal cord begins as the neural plate bends to
form the neural folds, which meet and adhere to close the neural tube. The neural ectoderm …

Etiology, pathogenesis and prevention of neural tube defects

R Padmanabhan - Congenital anomalies, 2006 - Wiley Online Library
Spina bifida, anencephaly, and encephalocele are commonly grouped together and termed
neural tube defects (NTD). Failure of closure of the neural tube during development results …