Heterozygous Pathogenic Variant inDACT1Causes an Autosomal-Dominant Syndrome with Features Overlapping Townes-Brocks Syndrome

Next-generation diagnostics and disease-gene discovery with the Exomiser

(2015) Damian Smedley et al.   Nature Protocols

A general framework for estimating the relative pathogenicity of human genetic variants

(2014) Martin Kircher et al.   NATURE GENETICS

Identification of novel rare mutations of DACT1 in human neural tube defects

(2012) Yan Shi et al.   HUMAN MUTATION

All Dact (Dapper/Frodo) scaffold proteins dimerize and exhibit conserved interactions with Vangl, Dvl, and serine/threonine kinases

(2011) Saul Kivimäe et al.   BMC BIOCHEMISTRY

Loss of Dact1 Disrupts Planar Cell Polarity Signaling by Altering Dishevelled Activity and Leads to Posterior Malformation in Mice

(2010) Jun Wen et al.   JOURNAL OF BIOLOGICAL CHEMISTRY

Posterior malformations in Dact1 mutant mice arise through misregulated Vangl2 at the primitive streak

(2009) Rowena Suriben et al.   NATURE GENETICS