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

Mutations in Prickle Orthologs Cause Seizures in Flies, Mice, and Humans

(2011) Hirotaka Tao et al.   AMERICAN JOURNAL OF HUMAN GENETICS

Contribution of VANGL2 mutations to isolated neural tube defects

(2010) Z Kibar et al.   CLINICAL GENETICS

Novel mutations inVANGL1in neural tube defects

(2009) Zoha Kibar et al.   HUMAN MUTATION

Mouse prickle1, the homolog of a PCP gene, is essential for epiblast apical-basal polarity

(2009) H. Tao et al.   PROCEEDINGS OF THE NATIONAL ACADEMY OF SCIENCES OF THE UNITED STATES OF AMERICA

Genetic Basis of Neural Tube Defects

(2009) Alexander G. Bassuk et al.   Seminars in Pediatric Neurology

The Human Gene Mutation Database: 2008 update

(2009) Peter D Stenson et al.   Genome Medicine

A Homozygous Mutation in Human PRICKLE1 Causes an Autosomal-Recessive Progressive Myoclonus Epilepsy-Ataxia Syndrome

(2008) Alexander G. Bassuk et al.   AMERICAN JOURNAL OF HUMAN GENETICS

Planar Cell Polarity Signaling: From Fly Development to Human Disease

(2008) Matias Simons et al.   Annual Review of Genetics

Mutations in the human SIX3 gene in holoprosencephaly are loss of function

(2008) Sabina Domené et al.   HUMAN MOLECULAR GENETICS