Mutations in human homologue of chickentalpid3gene (KIAA0586) cause a hybrid ciliopathy with overlapping features of Jeune and Joubert syndromes

Mutations in KIAA0586 Cause Lethal Ciliopathies Ranging from a Hydrolethalus Phenotype to Short-Rib Polydactyly Syndrome

(2015) Caroline Alby et al.   AMERICAN JOURNAL OF HUMAN GENETICS

KIAA0586is Mutated in Joubert Syndrome

(2015) Ruxandra Bachmann-Gagescu et al.   HUMAN MUTATION

Functional genome-wide siRNA screen identifies KIAA0586 as mutated in Joubert syndrome

(2015) Susanne Roosing et al.   eLife

Mutations in CSPP1 Cause Primary Cilia Abnormalities and Joubert Syndrome with or without Jeune Asphyxiating Thoracic Dystrophy

(2014) Karina Tuz et al.   AMERICAN JOURNAL OF HUMAN GENETICS

A founder CEP120 mutation in Jeune asphyxiating thoracic dystrophy expands the role of centriolar proteins in skeletal ciliopathies

(2014) Ranad Shaheen et al.   HUMAN MOLECULAR GENETICS

The CP110-interacting proteins Talpid3 and Cep290 play overlapping and distinct roles in cilia assembly

(2014) Tetsuo Kobayashi et al.   JOURNAL OF CELL BIOLOGY

Talpid3-Binding Centrosomal Protein Cep120 Is Required for Centriole Duplication and Proliferation of Cerebellar Granule Neuron Progenitors

(2014) Chuanqing Wu et al.   PLoS One

Loss of cilia causes embryonic lung hypoplasia, liver fibrosis, and cholestasis in thetalpid3ciliopathy mutant

(2014) Megan G Davey et al.   Organogenesis

Ataxia, Intellectual Disability, and Ocular Apraxia with Cerebellar Cysts: A New Disease?

(2013) Andrea Poretti et al.   CEREBELLUM

Failure of centrosome migration causes a loss of motile cilia intalpid3mutants

(2013) Louise A. Stephen et al.   DEVELOPMENTAL DYNAMICS

Joubert syndrome: congenital cerebellar ataxia with the molar tooth

(2013) Marta Romani et al.   LANCET NEUROLOGY

The mechanisms of Hedgehog signalling and its roles in development and disease

(2013) James Briscoe et al.   NATURE REVIEWS MOLECULAR CELL BIOLOGY

VarSifter: Visualizing and analyzing exome-scale sequence variation data on a desktop computer

(2012) Jamie K. Teer et al.   BIOINFORMATICS

Targeted mutation of the talpid3 gene in zebrafish reveals its conserved requirement for ciliogenesis and Hedgehog signalling across the vertebrates

(2011) J. Ben et al.   DEVELOPMENT

Generation of mice with functional inactivation of talpid3, a gene first identified in chicken

(2011) F. Bangs et al.   DEVELOPMENT

Homozygosity Mapping and Whole-Exome Sequencing to Detect SLC45A2 and G6PC3 Mutations in a Single Patient with Oculocutaneous Albinism and Neutropenia

(2011) Andrew R. Cullinane et al.   JOURNAL OF INVESTIGATIVE DERMATOLOGY

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

(2010) Veena Singla et al.   DEVELOPMENTAL CELL

Exome sequencing: the sweet spot before whole genomes

(2010) J. K. Teer et al.   HUMAN MOLECULAR GENETICS

Cep120 is asymmetrically localized to the daughter centriole and is essential for centriole assembly

(2010) Moe R. Mahjoub et al.   JOURNAL OF CELL BIOLOGY

The Talpid3 gene (KIAA0586) encodes a centrosomal protein that is essential for primary cilia formation

(2009) Y. Yin et al.   DEVELOPMENT

Solution hybrid selection with ultra-long oligonucleotides for massively parallel targeted sequencing

(2009) Andreas Gnirke et al.   NATURE BIOTECHNOLOGY

Accurate whole human genome sequencing using reversible terminator chemistry

(2008) David R. Bentley et al.   NATURE