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

Planar Cell Polarity Links Axes of Spatial Dynamics in Neural-Tube Closure

(2012) Tamako Nishimura et al.   CELL

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

(2011) Alexis Robinson et al.   HUMAN MUTATION

Identification and characterization of novel rare mutations in the planar cell polarity genePRICKLE1in human neural tube defects

(2011) Ciprian M. Bosoi et al.   HUMAN MUTATION

Glypican-5 stimulates rhabdomyosarcoma cell proliferation by activating Hedgehog signaling

(2011) Fuchuan Li et al.   JOURNAL OF CELL BIOLOGY

Germline deletion of the miR-17∼92 cluster causes skeletal and growth defects in humans

(2011) Loïc de Pontual et al.   NATURE GENETICS

Partial monosomy 13q (13q21.32→qter) and partial trisomy 8p (8p12→pter) presenting with anencephaly and increased nuchal translucency: array comparative genomic hybridization characterization

(2011) Chih-Ping Chen et al.   Taiwanese Journal of Obstetrics & Gynecology

Planar cell polarity pathway genes and risk for spina bifida

(2010) Shu Wen et al.   AMERICAN JOURNAL OF MEDICAL GENETICS PART A

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

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

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

Statistical analysis strategies for association studies involving rare variants

(2010) Vikas Bansal et al.   NATURE REVIEWS GENETICS

Association of NPAS3 exonic variation with schizophrenia

(2010) Georgina Macintyre et al.   SCHIZOPHRENIA RESEARCH

Understanding the causes and prevention of neural tube defects: Insights from thesplotchmouse model

(2009) Nicholas D.E. Greene et al.   BIRTH DEFECTS RESEARCH PART A-CLINICAL AND MOLECULAR TERATOLOGY

Common vs. rare allele hypotheses for complex diseases

(2009) Nicholas J Schork et al.   CURRENT OPINION IN GENETICS & DEVELOPMENT

High-resolution mapping and analysis of copy number variations in the human genome: A data resource for clinical and research applications

(2009) T. H. Shaikh et al.   GENOME RESEARCH

Autism genome-wide copy number variation reveals ubiquitin and neuronal genes

(2009) Joseph T. Glessner et al.   NATURE

De novo copy number variants identify new genes and loci in isolated sporadic tetralogy of Fallot

(2009) Steven C Greenway et al.   NATURE GENETICS

Shaping Morphogen Gradients by Proteoglycans

(2009) D. Yan et al.   Cold Spring Harbor Perspectives in Biology

Neuroimaging findings in children with rare or novel de novo chromosomal anomalies

(2008) Leon G. Epstein et al.   BIRTH DEFECTS RESEARCH PART A-CLINICAL AND MOLECULAR TERATOLOGY

Characteristics of a spina bifida population including North American Caucasian and Hispanic individuals

(2008) Kit Sing Au et al.   BIRTH DEFECTS RESEARCH PART A-CLINICAL AND MOLECULAR TERATOLOGY

CGH microarrays and cancer

(2008) Anne Kallioniemi   CURRENT OPINION IN BIOTECHNOLOGY

Maternal Tgif1 regulates nodal gene expression in Xenopus

(2008) Tyler C. Kerr et al.   DEVELOPMENTAL DYNAMICS

Gene-environment interactions in the causation of neural tube defects: folate deficiency increases susceptibility conferred by loss of Pax3 function

(2008) K. A. Burren et al.   HUMAN MOLECULAR GENETICS

A recurrent 15q13.3 microdeletion syndrome associated with mental retardation and seizures

(2008) Andrew J Sharp et al.   NATURE GENETICS

Recurrent Rearrangements of Chromosome 1q21.1 and Variable Pediatric Phenotypes

(2008) Heather C. Mefford et al.   NEW ENGLAND JOURNAL OF MEDICINE

Genomic Imbalances in Neonates With Birth Defects: High Detection Rates by Using Chromosomal Microarray Analysis

(2008) X.-Y. Lu et al.   PEDIATRICS

Molecular subtypes of diffuse large B-cell lymphoma arise by distinct genetic pathways

(2008) G. Lenz et al.   PROCEEDINGS OF THE NATIONAL ACADEMY OF SCIENCES OF THE UNITED STATES OF AMERICA

Rare Structural Variants Disrupt Multiple Genes in Neurodevelopmental Pathways in Schizophrenia

(2008) T. Walsh et al.   SCIENCE

Glypicans

(2008) Jorge Filmus et al.   GENOME BIOLOGY