Compound heterozygosity for a frame shift mutation and a likely pathogenic sequence variant in the planar cell polarity-ciliogenesis geneWDPCPin a girl with polysyndactyly, coarctation of the aorta, and tongue hamartomas

The oral-facial-digital syndrome gene C2CD3 encodes a positive regulator of centriole elongation

(2014) Christel Thauvin-Robinet et al.   NATURE GENETICS

Mutations in DDX59 Implicate RNA Helicase in the Pathogenesis of Orofaciodigital Syndrome

(2013) Hanan E. Shamseldin et al.   AMERICAN JOURNAL OF HUMAN GENETICS

Wdpcp, a PCP Protein Required for Ciliogenesis, Regulates Directional Cell Migration and Cell Polarity by Direct Modulation of the Actin Cytoskeleton

(2013) Cheng Cui et al.   PLOS BIOLOGY

TCTN3 Mutations Cause Mohr-Majewski Syndrome

(2012) Sophie Thomas et al.   AMERICAN JOURNAL OF HUMAN GENETICS

The ciliopathies: a transitional model into systems biology of human genetic disease

(2012) Erica E Davis et al.   CURRENT OPINION IN GENETICS & DEVELOPMENT

KIF7 mutations cause fetal hydrolethalus and acrocallosal syndromes

(2011) Audrey Putoux et al.   NATURE GENETICS

TTC21B contributes both causal and modifying alleles across the ciliopathy spectrum

(2011) Erica E Davis et al.   NATURE GENETICS

Congenital heart defects, hamartomas of the tongue and polysyndactyly in a sister and brother

(2010) Karen Helene Örstavik et al.   CLINICAL GENETICS

Joint dislocation and cerebral anomalies are consistently associated with oral-facial-digital syndrome type IV

(2010) Maria Cristina Digilio et al.   CLINICAL GENETICS

Syndrome characterized by lingual malformation, Polydactyly, tachypnea, and psychomotor retardation (Mohr syndrome)

(2010) K. -H. Gustavson et al.   CLINICAL GENETICS

MutationTaster evaluates disease-causing potential of sequence alterations

(2010) Jana Marie Schwarz et al.   NATURE METHODS

Planar Cell Polarity Acts Through Septins to Control Collective Cell Movement and Ciliogenesis

(2010) Su Kyoung Kim et al.   SCIENCE

The molecular basis of oral-facial-digital syndrome, type 1

(2009) Marina Macca et al.   AMERICAN JOURNAL OF MEDICAL GENETICS PART C-SEMINARS IN MEDICAL GENETICS

Making sense of cilia in disease: The human ciliopathies

(2009) Kate Baker et al.   AMERICAN JOURNAL OF MEDICAL GENETICS PART C-SEMINARS IN MEDICAL GENETICS

A mouse model for Meckel syndrome reveals Mks1 is required for ciliogenesis and Hedgehog signaling

(2009) Scott D. Weatherbee et al.   HUMAN MOLECULAR GENETICS

Convergent extension movements and ciliary function are mediated by ofd1 , a zebrafish orthologue of the human oral-facial-digital type 1 syndrome gene

(2008) Maria I. Ferrante et al.   HUMAN MOLECULAR GENETICS