Myelomeningocele genotype–phenotype correlation findings in cilia, HH, PCP, and WNT signaling pathways

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

(2018) M. Ishida et al.   CLINICAL GENETICS

Vangl2 disruption alters the biomechanics of late spinal neurulation leading to spina bifida in mouse embryos

(2018) Gabriel L. Galea et al.   Disease Models & Mechanisms

STRING v11: protein–protein association networks with increased coverage, supporting functional discovery in genome-wide experimental datasets

(2018) Damian Szklarczyk et al.   NUCLEIC ACIDS RESEARCH

Genomic approaches to the assessment of human spina bifida risk

(2017) M. Elizabeth Ross et al.   Birth Defects Research

Primary Cilia and Mammalian Hedgehog Signaling

(2016) Fiona Bangs et al.   Cold Spring Harbor Perspectives in Biology

KEGG as a reference resource for gene and protein annotation

(2015) Minoru Kanehisa et al.   NUCLEIC ACIDS RESEARCH

Spina bifida

(2015) Andrew J. Copp et al.   Nature Reviews Disease Primers

Neural Tube Defects

(2014) Nicholas D.E. Greene et al.   Annual Review of Neuroscience

Traffic jam in the primitive streak: The role of defective mesoderm migration in birth defects

(2014) Nils J. Herion et al.   BIRTH DEFECTS RESEARCH PART A-CLINICAL AND MOLECULAR TERATOLOGY

Genetic studies ofANKRD6as a molecular switch between Wnt signaling pathways in human neural tube defects

(2014) Redouane Allache et al.   BIRTH DEFECTS RESEARCH PART A-CLINICAL AND MOLECULAR TERATOLOGY

Roles for Hedgehog signaling in adult organ homeostasis and repair

(2014) R. Petrova et al.   DEVELOPMENT

Shaping the nervous system: role of the core planar cell polarity genes

(2013) Fadel Tissir et al.   NATURE REVIEWS NEUROSCIENCE

The MIntAct project—IntAct as a common curation platform for 11 molecular interaction databases

(2013) Sandra Orchard et al.   NUCLEIC ACIDS RESEARCH

Detection of Copy Number Variants Reveals Association of Cilia Genes with Neural Tube Defects

(2013) Xiaoli Chen et al.   PLoS One

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

Evaluation of common genetic variants in 82 candidate genes as risk factors for neural tube defects

(2012) Faith Pangilinan et al.   BMC Medical Genetics

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

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

InnateDB: systems biology of innate immunity and beyond—recent updates and continuing curation

(2012) Karin Breuer et al.   NUCLEIC ACIDS RESEARCH

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

(2011) A.J. Agopian et al.   AMERICAN JOURNAL OF MEDICAL GENETICS PART A

Cilia in the nervous system: linking cilia function and neurodevelopmental disorders

(2011) Ji E Lee et al.   CURRENT OPINION IN NEUROLOGY

Cilia in the CNS: The Quiet Organelle Claims Center Stage

(2011) Angeliki Louvi et al.   NEURON

A Genetic Signature of Spina Bifida Risk from Pathway-Informed Comprehensive Gene-Variant Analysis

(2011) Nicholas J. Marini et al.   PLoS One

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

Contribution of VANGL2 mutations to isolated neural tube defects

(2010) Z Kibar et al.   CLINICAL GENETICS

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

(2010) Kit Sing Au et al.   Developmental Disabilities Research Reviews

A method and server for predicting damaging missense mutations

(2010) Ivan A Adzhubei et al.   NATURE METHODS

VANGL2Mutations in Human Cranial Neural-Tube Defects

(2010) Yun-Ping Lei et al.   NEW ENGLAND JOURNAL OF MEDICINE

Genetics of human neural tube defects

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

Novel mutations inVANGL1in neural tube defects

(2009) Zoha Kibar et al.   HUMAN MUTATION

Genetics and development of neural tube defects

(2009) Andrew J Copp et al.   JOURNAL OF PATHOLOGY

Detecting gene–gene interactions that underlie human diseases

(2009) Heather J Cordell   NATURE REVIEWS GENETICS

SNPinfo: integrating GWAS and candidate gene information into functional SNP selection for genetic association studies

(2009) Zongli Xu et al.   NUCLEIC ACIDS RESEARCH

Analysis of genomic diversity in Mexican Mestizo populations to develop genomic medicine in Mexico

(2009) I. Silva-Zolezzi et al.   PROCEEDINGS OF THE NATIONAL ACADEMY OF SCIENCES OF THE UNITED STATES OF AMERICA

Spina bifida before and after folic acid fortification in Canada

(2008) Philippe De Wals et al.   BIRTH DEFECTS RESEARCH PART A-CLINICAL AND MOLECULAR TERATOLOGY

C2cd3 is required for cilia formation and Hedgehog signaling in mouse

(2008) A. N. Hoover et al.   DEVELOPMENT

Large-Scale Analysis of Association Between LRP5 and LRP6 Variants and Osteoporosis

(2008) Joyce B. J. van Meurs   JAMA-JOURNAL OF THE AMERICAN MEDICAL ASSOCIATION

Epistasis — the essential role of gene interactions in the structure and evolution of genetic systems

(2008) Patrick C. Phillips   NATURE REVIEWS GENETICS