Biallelic mutations in DYNC2LI1 are a rare cause of Ellis-van Creveld syndrome

Biallelic Mutations in TBCD , Encoding the Tubulin Folding Cofactor D, Perturb Microtubule Dynamics and Cause Early-Onset Encephalopathy

(2016) Elisabetta Flex et al.   AMERICAN JOURNAL OF HUMAN GENETICS

TBCE Mutations Cause Early-Onset Progressive Encephalopathy with Distal Spinal Muscular Atrophy

(2016) Antonella Sferra et al.   AMERICAN JOURNAL OF HUMAN GENETICS

Mutations Impairing GSK3-Mediated MAF Phosphorylation Cause Cataract, Deafness, Intellectual Disability, Seizures, and a Down Syndrome-like Facies

(2015) Marcello Niceta et al.   AMERICAN JOURNAL OF HUMAN GENETICS

Specific variants in WDR35 cause a distinctive form of Ellis-van Creveld syndrome by disrupting the recruitment of the EvC complex and SMO into the cilium

(2015) José A. Caparrós-Martín et al.   HUMAN MOLECULAR GENETICS

Mutations in KCNH1 and ATP6V1B2 cause Zimmermann-Laband syndrome

(2015) Fanny Kortüm et al.   NATURE GENETICS

Mutations in DYNC2LI1 disrupt cilia function and cause short rib polydactyly syndrome

(2015) S. Paige Taylor et al.   Nature Communications

DYNC2LI1 mutations broaden the clinical spectrum of dynein-2 defects

(2015) Kristin Kessler et al.   Scientific Reports

Comparison and integration of deleteriousness prediction methods for nonsynonymous SNVs in whole exome sequencing studies

(2015) C. Dong et al.   HUMAN MOLECULAR GENETICS

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

(2014) Martin Kircher et al.   NATURE GENETICS

WDR34 Mutations that Cause Short-Rib Polydactyly Syndrome Type III/Severe Asphyxiating Thoracic Dysplasia Reveal a Role for the NF-κB Pathway in Cilia

(2013) Céline Huber et al.   AMERICAN JOURNAL OF HUMAN GENETICS

dbNSFP v2.0: A Database of Human Non-synonymous SNVs and Their Functional Predictions and Annotations

(2013) Xiaoming Liu et al.   HUMAN MUTATION

Novel and recurrent EVC and EVC2 mutations in Ellis-van Creveld syndrome and Weyers acrofacial dyostosis

(2012) Maria Cecilia D'Asdia et al.   European Journal of Medical Genetics

A program for annotating and predicting the effects of single nucleotide polymorphisms, SnpEff

(2012) Pablo Cingolani et al.   FLY

The ciliary Evc/Evc2 complex interacts with Smo and controls Hedgehog pathway activity in chondrocytes by regulating Sufu/Gli3 dissociation and Gli3 trafficking in primary cilia

(2012) Jose A. Caparrós-Martín et al.   HUMAN MOLECULAR GENETICS

Evc2 is a positive modulator of Hedgehog signalling that interacts with Evc at the cilia membrane and is also found in the nucleus

(2011) Helen J Blair et al.   BMC BIOLOGY

Ellis–van Creveld Syndrome and Congenital Heart Defects: Presentation of an Additional 32 Cases

(2011) Christine B. Hills et al.   PEDIATRIC CARDIOLOGY

Ciliary Abnormalities Due to Defects in the Retrograde Transport Protein DYNC2H1 in Short-Rib Polydactyly Syndrome

(2009) Amy E. Merrill et al.   AMERICAN JOURNAL OF HUMAN GENETICS

Ellis-van Creveld syndrome and Weyers acrodental dysostosis are caused by cilia-mediated diminished response to hedgehog ligands

(2009) Victor L. Ruiz-Perez et al.   AMERICAN JOURNAL OF MEDICAL GENETICS PART C-SEMINARS IN MEDICAL GENETICS