Increasing evidence of hereditary lymphedema caused by CELSR1 loss-of-function variants

Planar cell polarity genes Celsr1 and Vangl2 are necessary for kidney growth, differentiation, and rostrocaudal patterning

(2016) Hortensja Ł. Brzóska et al.   KIDNEY INTERNATIONAL

Standards and guidelines for the interpretation of sequence variants: a joint consensus recommendation of the American College of Medical Genetics and Genomics and the Association for Molecular Pathology

(2015) Sue Richards et al.   GENETICS IN MEDICINE

The role of the protein tyrosine phosphatase SHP2 in cardiac development and disease

(2015) Jessica Lauriol et al.   SEMINARS IN CELL & DEVELOPMENTAL BIOLOGY

Junctionally restricted RhoA activity is necessary for apical constriction during phase 2 inner ear placode invagination

(2014) Xiaorei Sai et al.   DEVELOPMENTAL BIOLOGY

Identification of Novel CELSR1 Mutations in Spina Bifida

(2014) Yunping Lei et al.   PLoS One

Planar Cell Polarity Protein Celsr1 Regulates Endothelial Adherens Junctions and Directed Cell Rearrangements during Valve Morphogenesis

(2013) Florence Tatin et al.   DEVELOPMENTAL CELL

Noonan syndrome

(2013) Amy E Roberts et al.   LANCET

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

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

Planar polarization in embryonic epidermis orchestrates global asymmetric morphogenesis of hair follicles

(2008) Danelle Devenport et al.   NATURE CELL BIOLOGY