Deep intronic mutation in OFD1, identified by targeted genomic next-generation sequencing, causes a severe form of X-linked retinitis pigmentosa (RP23)

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

RP2 Phenotype and Pathogenetic Correlations in X-Linked Retinitis Pigmentosa

(2010) Thiran Jayasundera   ARCHIVES OF OPHTHALMOLOGY

Ofd1 is required in limb bud patterning and endochondral bone development

(2010) Sabrina Bimonte et al.   DEVELOPMENTAL BIOLOGY

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

(2010) Veena Singla et al.   DEVELOPMENTAL CELL

Candidate exome capture identifies mutation of SDCCAG8 as the cause of a retinal-renal ciliopathy

(2010) Edgar A Otto et al.   NATURE GENETICS

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

Search for genomic imbalances in a cohort of 20 patients with oral-facial-digital syndromes negative for mutations and large rearrangements in theOFD1gene

(2009) Christel Thauvin-Robinet et al.   AMERICAN JOURNAL OF MEDICAL GENETICS PART A

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

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

Mutational spectrum of the oral-facial-digital type I syndrome: a study on a large collection of patients

(2008) Clelia Prattichizzo et al.   HUMAN MUTATION

Hypomorphic mutations in syndromic encephalocele genes are associated with Bardet-Biedl syndrome

(2008) Carmen C Leitch et al.   NATURE GENETICS

Mutations of theCEP290gene encoding a centrosomal protein cause Meckel-Gruber syndrome

(2007) Valeska Frank et al.   HUMAN MUTATION