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

Partitioning of One-Carbon Units in Folate and Methionine Metabolism Is Essential for Neural Tube Closure

(2017) Kit-Yi Leung et al.   Cell Reports

Genetic backgrounds and modifier genes of NTD mouse models: An opportunity for greater understanding of the multifactorial etiology of neural tube defects

(2017) Renee Y.M. Leduc et al.   Birth Defects Research

REVEL: An Ensemble Method for Predicting the Pathogenicity of Rare Missense Variants

(2016) Nilah M. Ioannidis et al.   AMERICAN JOURNAL OF HUMAN GENETICS

Genetic association of the glycine cleavage system genes and myelomeningocele

(2016) Rita H. Shah et al.   BIRTH DEFECTS RESEARCH PART A-CLINICAL AND MOLECULAR TERATOLOGY

The genetic basis of classic nonketotic hyperglycinemia due to mutations in GLDC and AMT

(2016) Curtis R. Coughlin et al.   GENETICS IN MEDICINE

Analysis of protein-coding genetic variation in 60,706 humans

(2016) Monkol Lek et al.   NATURE

Genetic association of the glycine cleavage system genes and myelomeningocele

(2016) Rita H. Shah et al.   BIRTH DEFECTS RESEARCH PART A-CLINICAL AND MOLECULAR TERATOLOGY

PROVEAN web server: a tool to predict the functional effect of amino acid substitutions and indels

(2015) Yongwook Choi et al.   BIOINFORMATICS

Exome sequencing identifies rare variants in multiple genes in atrioventricular septal defect

(2015) Lisa C. A. D’Alessandro et al.   GENETICS IN MEDICINE

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

(2015) Philippe Lemay et al.   JOURNAL OF MEDICAL GENETICS

A global reference for human genetic variation

(2015) Richard A. Gibbs et al.   NATURE

Glycine decarboxylase deficiency causes neural tube defects and features of non-ketotic hyperglycinemia in mice

(2015) Yun Jin Pai et al.   Nature Communications

Genetic interactions between planar cell polarity genes cause diverse neural tube defects in mice

(2014) J. N. Murdoch et al.   Disease Models & Mechanisms

Identification of Novel CELSR1 Mutations in Spina Bifida

(2014) Yunping Lei et al.   PLoS One

Knowledge and periconceptional use of folic acid for the prevention of neural tube defects in ethnic communities in the United Kingdom: Systematic review and meta-analysis

(2013) Jordana N. Peake et al.   BIRTH DEFECTS RESEARCH PART A-CLINICAL AND MOLECULAR TERATOLOGY

Genetic Association Analyses of Nitric Oxide Synthase Genes and Neural Tube Defects Vary by Phenotype

(2013) Karen L. Soldano et al.   BIRTH DEFECTS RESEARCH PART B-DEVELOPMENTAL AND REPRODUCTIVE TOXICOLOGY

Neural tube defects: recent advances, unsolved questions, and controversies

(2013) Andrew J Copp et al.   LANCET NEUROLOGY

Role of the planar cell polarity gene CELSR1 in neural tube defects and caudal agenesis

(2012) Redouane Allache et al.   BIRTH DEFECTS RESEARCH PART A-CLINICAL AND MOLECULAR TERATOLOGY

A consideration of the evidence that genetic defects in planar cell polarity contribute to the etiology of human neural tube defects

(2012) Diana M. Juriloff et al.   BIRTH DEFECTS RESEARCH PART A-CLINICAL AND MOLECULAR TERATOLOGY

VarScan 2: Somatic mutation and copy number alteration discovery in cancer by exome sequencing

(2012) D. C. Koboldt et al.   GENOME RESEARCH

Genetic Analysis of Disheveled 2 and Disheveled 3 in Human Neural Tube Defects

(2012) Patrizia De Marco et al.   JOURNAL OF MOLECULAR NEUROSCIENCE

Improving the Assessment of the Outcome of Nonsynonymous SNVs with a Consensus Deleteriousness Score, Condel

(2011) Abel González-Pérez et al.   AMERICAN JOURNAL OF HUMAN GENETICS

Mutations in genes encoding the glycine cleavage system predispose to neural tube defects in mice and humans

(2011) Ayumi Narisawa et al.   HUMAN MOLECULAR GENETICS

Mutations in the planar cell polarity genesCELSR1andSCRIBare associated with the severe neural tube defect craniorachischisis

(2011) Alexis Robinson et al.   HUMAN MUTATION

An update to the list of mouse mutants with neural tube closure defects and advances toward a complete genetic perspective of neural tube closure

(2010) Muriel J. Harris et al.   BIRTH DEFECTS RESEARCH PART A-CLINICAL AND MOLECULAR TERATOLOGY

Ancient origin of the CTH alelle carrying the c.200C>T (p.T67I) variant in patients with cystathioninuria

(2010) C Espinós et al.   CLINICAL GENETICS

MutationTaster evaluates disease-causing potential of sequence alterations

(2010) Jana Marie Schwarz et al.   NATURE METHODS

Evaluation of folate metabolism gene polymorphisms as risk factors for open and closed neural tube defects

(2009) K. Doudney et al.   AMERICAN JOURNAL OF MEDICAL GENETICS PART A

The Sequence Alignment/Map format and SAMtools

(2009) H. Li et al.   BIOINFORMATICS

Fast and accurate short read alignment with Burrows-Wheeler transform

(2009) H. Li et al.   BIOINFORMATICS

Interaction ofPDGFRApromoter haplotypes and maternal environmental exposures in the risk of spina bifida

(2009) Mascha Toepoel et al.   BIRTH DEFECTS RESEARCH PART A-CLINICAL AND MOLECULAR TERATOLOGY

Genetics of human neural tube defects

(2009) N. D.E. Greene et al.   HUMAN MOLECULAR GENETICS

Predicting the effects of coding non-synonymous variants on protein function using the SIFT algorithm

(2009) Prateek Kumar et al.   Nature Protocols

Loss of Fat4 disrupts PCP signaling and oriented cell division and leads to cystic kidney disease

(2008) Sakura Saburi et al.   NATURE GENETICS