A homozygous nonsense CEP250 mutation combined with a heterozygous nonsense C2orf71 mutation is associated with atypical Usher syndrome

Mutations in ARL2BP, Encoding ADP-Ribosylation-Factor-Like 2 Binding Protein, Cause Autosomal-Recessive Retinitis Pigmentosa

(2013) Alice E. Davidson et al.   AMERICAN JOURNAL OF HUMAN GENETICS

Usher protein functions in hair cells and photoreceptors

(2013) Dominic Cosgrove et al.   INTERNATIONAL JOURNAL OF BIOCHEMISTRY & CELL BIOLOGY

Whole genome sequencing in patients with retinitis pigmentosa reveals pathogenic DNA structural changes and NEK2 as a new disease gene

(2013) K. M. Nishiguchi et al.   PROCEEDINGS OF THE NATIONAL ACADEMY OF SCIENCES OF THE UNITED STATES OF AMERICA

CEP proteins: the knights of centrosome dynasty

(2013) Ambuj Kumar et al.   PROTOPLASMA

The role of primary cilia in the development and disease of the retina

(2013) Gabrielle Wheway et al.   Organogenesis

The ciliopathies: a transitional model into systems biology of human genetic disease

(2012) Erica E Davis et al.   CURRENT OPINION IN GENETICS & DEVELOPMENT

Non-syndromic retinal ciliopathies: translating gene discovery into therapy

(2012) A. Estrada-Cuzcano et al.   HUMAN MOLECULAR GENETICS

Exome Sequencing and cis-Regulatory Mapping Identify Mutations in MAK, a Gene Encoding a Regulator of Ciliary Length, as a Cause of Retinitis Pigmentosa

(2011) Rıza Köksal Özgül et al.   AMERICAN JOURNAL OF HUMAN GENETICS

Whole-Exome Sequencing Links a Variant in DHDDS to Retinitis Pigmentosa

(2011) Stephan Züchner et al.   AMERICAN JOURNAL OF HUMAN GENETICS

Usher syndrome (sensorineural deafness and retinitis pigmentosa)

(2011) Crystel Bonnet et al.   CURRENT OPINION IN NEUROLOGY

Combining gene mapping and phenotype assessment for fast mutation finding in non-consanguineous autosomal recessive retinitis pigmentosa families

(2011) Maxime Hebrard et al.   EUROPEAN JOURNAL OF HUMAN GENETICS

Novel C2orf71 mutations account for ∼1% of cases in a large French arRP cohort

(2011) Isabelle Audo et al.   HUMAN MUTATION

Exome sequencing and analysis of induced pluripotent stem cells identify the cilia-related gene male germ cell-associated kinase (MAK) as a cause of retinitis pigmentosa

(2011) B. A. Tucker et al.   PROCEEDINGS OF THE NATIONAL ACADEMY OF SCIENCES OF THE UNITED STATES OF AMERICA

Retinal dystrophy in Bardet–Biedl syndrome and related syndromic ciliopathies

(2011) A. Mockel et al.   PROGRESS IN RETINAL AND EYE RESEARCH

Unlocking Mendelian disease using exome sequencing

(2011) Christian Gilissen et al.   GENOME BIOLOGY

Discovery and Functional Analysis of a Retinitis Pigmentosa Gene, C2ORF71

(2010) Darryl Y. Nishimura et al.   AMERICAN JOURNAL OF HUMAN GENETICS

Mutations in C2ORF71 Cause Autosomal-Recessive Retinitis Pigmentosa

(2010) Rob W.J. Collin et al.   AMERICAN JOURNAL OF HUMAN GENETICS

A frameshift mutation in SANS results in atypical Usher syndrome

(2010) R Bashir et al.   CLINICAL GENETICS

Genetics and pathological mechanisms of Usher syndrome

(2010) Denise Yan et al.   JOURNAL OF HUMAN GENETICS

Identification of two new mutations in the GPR98 and the PDE6B genes segregating in a Tunisian family

(2008) Mounira Hmani-Aifa et al.   EUROPEAN JOURNAL OF HUMAN GENETICS

A novel function of CEP135 as a platform protein of C-NAP1 for its centriolar localization

(2008) Kyeongmi Kim et al.   EXPERIMENTAL CELL RESEARCH