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

CEP120 and SPICE1 Cooperate with CPAP in Centriole Elongation

(2013) David Comartin et al.   CURRENT BIOLOGY

Discovering Regulators of Centriole Biogenesis through siRNA-Based Functional Genomics in Human Cells

(2013) Fernando R. Balestra et al.   DEVELOPMENTAL CELL

C5orf42 is the major gene responsible for OFD syndrome type VI

(2013) Estelle Lopez et al.   HUMAN GENETICS

CEP120 interacts with CPAP and positively regulates centriole elongation

(2013) Yi-Nan Lin et al.   JOURNAL OF CELL BIOLOGY

An in vitro assay for entry into cilia reveals unique properties of the soluble diffusion barrier

(2013) David K. Breslow et al.   JOURNAL OF CELL BIOLOGY

Mutations in C5ORF42 Cause Joubert Syndrome in the French Canadian Population

(2012) Myriam Srour et al.   AMERICAN JOURNAL OF HUMAN GENETICS

TCTN3 Mutations Cause Mohr-Majewski Syndrome

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

Novel transglutaminase-like peptidase and C2 domains elucidate the structure, biogenesis and evolution of the ciliary compartment

(2012) Dapeng Zhang et al.   CELL CYCLE

Scoring a backstage pass: Mechanisms of ciliogenesis and ciliary access

(2012) Francesc R. Garcia-Gonzalo et al.   JOURNAL OF CELL BIOLOGY

Fiji: an open-source platform for biological-image analysis

(2012) Johannes Schindelin et al.   NATURE METHODS

Delineation and Diagnostic Criteria of Oral-Facial-Digital Syndrome Type VI

(2012) Andrea Poretti et al.   Orphanet Journal of Rare Diseases

TrakEM2 Software for Neural Circuit Reconstruction

(2012) Albert Cardona et al.   PLoS One

Centriolar satellites are assembly points for proteins implicated in human ciliopathies, including oral-facial-digital syndrome 1

(2011) C. A. M. Lopes et al.   JOURNAL OF CELL SCIENCE

A framework for variation discovery and genotyping using next-generation DNA sequencing data

(2011) Mark A DePristo et al.   NATURE GENETICS

The Conserved Bardet-Biedl Syndrome Proteins Assemble a Coat that Traffics Membrane Proteins to Cilia

(2010) Hua Jin et al.   CELL

Ofd1, a Human Disease Gene, Regulates the Length and Distal Structure of Centrioles

(2010) Veena Singla et al.   DEVELOPMENTAL CELL

The Genome Analysis Toolkit: A MapReduce framework for analyzing next-generation DNA sequencing data

(2010) A. McKenna et al.   GENOME RESEARCH

A method and server for predicting damaging missense mutations

(2010) Ivan A Adzhubei et al.   NATURE METHODS

Fast and accurate short read alignment with Burrows-Wheeler transform

(2009) H. Li et al.   BIOINFORMATICS

Control of Centriole Length by CPAP and CP110

(2009) Thorsten I. Schmidt et al.   CURRENT BIOLOGY

Overly Long Centrioles and Defective Cell Division upon Excess of the SAS-4-Related Protein CPAP

(2009) Gregor Kohlmaier et al.   CURRENT BIOLOGY

hPOC5 is a centrin-binding protein required for assembly of full-length centrioles

(2009) Juliette Azimzadeh et al.   JOURNAL OF CELL BIOLOGY

CPAP is a cell-cycle regulated protein that controls centriole length

(2009) Chieh-Ju C. Tang et al.   NATURE CELL BIOLOGY

HomozygosityMapper--an interactive approach to homozygosity mapping

(2009) D. Seelow et al.   NUCLEIC ACIDS RESEARCH

Human Splicing Finder: an online bioinformatics tool to predict splicing signals

(2009) François-Olivier Desmet et al.   NUCLEIC ACIDS RESEARCH

C2cd3 is required for cilia formation and Hedgehog signaling in mouse

(2008) A. N. Hoover et al.   DEVELOPMENT