C5orf42 is the major gene responsible for OFD syndrome type VI

Detailed clinical, genetic and neuroimaging characterization of OFD VI syndrome

(2013) Véronique Darmency-Stamboul et al.   European Journal of Medical Genetics

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

Exome Capture Reveals ZNF423 and CEP164 Mutations, Linking Renal Ciliopathies to DNA Damage Response Signaling

(2012) Moumita Chaki et al.   CELL

Molecular characterization of Joubert syndrome in Saudi Arabia

(2012) Anas M. Alazami et al.   HUMAN MUTATION

Novel Mutations Including Deletions of the EntireOFD1Gene in 30 Families with Type 1 Orofaciodigital Syndrome: A Study of the Extensive Clinical Variability

(2012) Izak J. Bisschoff et al.   HUMAN MUTATION

Mutations inTMEM231cause Joubert syndrome in French Canadians

(2012) Myriam Srour et al.   JOURNAL OF MEDICAL GENETICS

The BBSome controls IFT assembly and turnaround in cilia

(2012) Qing Wei et al.   NATURE CELL BIOLOGY

CEP41 is mutated in Joubert syndrome and is required for tubulin glutamylation at the cilium

(2012) Ji Eun Lee et al.   NATURE GENETICS

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

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

Evolutionarily Assembled cis-Regulatory Module at a Human Ciliopathy Locus

(2012) J. H. Lee et al.   SCIENCE

Mapping the NPHP-JBTS-MKS Protein Network Reveals Ciliopathy Disease Genes and Pathways

(2011) Liyun Sang et al.   CELL

Integrative genomics viewer

(2011) James T Robinson et al.   NATURE BIOTECHNOLOGY

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

(2011) Mark A DePristo et al.   NATURE GENETICS

Oral-facial-digital syndrome with fibular aplasia: a new variant

(2010) L. E. Figuera et al.   CLINICAL GENETICS

Mutations in TMEM216 perturb ciliogenesis and cause Joubert, Meckel and related syndromes

(2010) Enza Maria Valente et al.   NATURE GENETICS

A method and server for predicting damaging missense mutations

(2010) Ivan A Adzhubei et al.   NATURE METHODS

Joubert Syndrome and related disorders

(2010) Francesco Brancati et al.   Orphanet Journal of Rare Diseases

OFD1 Is Mutated in X-Linked Joubert Syndrome and Interacts with LCA5-Encoded Lebercilin

(2009) Karlien L.M. Coene et al.   AMERICAN JOURNAL OF HUMAN GENETICS

The Sequence Alignment/Map format and SAMtools

(2009) H. Li et al.   BIOINFORMATICS

CC2D2Amutations in Meckel and Joubert syndromes indicate a genotype-phenotype correlation

(2009) Soumaya Mougou-Zerelli et al.   HUMAN MUTATION

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

(2009) Andreas Gnirke et al.   NATURE BIOTECHNOLOGY

Prenatal and Neonatal MR Imaging Findings in Oral-Facial-Digital Syndrome Type VI

(2008) A. Poretti et al.   AMERICAN JOURNAL OF NEURORADIOLOGY