Development and application of a next-generation-sequencing (NGS) approach to detect known and novel gene defects underlying retinal diseases

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

(2011) Isabelle Audo et al.   HUMAN MUTATION

RP1 and autosomal dominant rod-cone dystrophy: Novel mutations, a review of published variants, and genotype-phenotype correlation

(2011) Isabelle Audo et al.   HUMAN MUTATION

Dominant Mutations in RP1L1 Are Responsible for Occult Macular Dystrophy

(2010) Masakazu Akahori et al.   AMERICAN JOURNAL OF HUMAN GENETICS

Mutations in IMPG2, Encoding Interphotoreceptor Matrix Proteoglycan 2, Cause Autosomal-Recessive Retinitis Pigmentosa

(2010) Dikla Bandah-Rozenfeld 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

Prevalence and novelty of PRPF31 mutations in French autosomal dominant rod-cone dystrophy patients and a review of published reports

(2010) Isabelle Audo et al.   BMC Medical Genetics

The disruption of the rod-derived cone viability gene leads to photoreceptor dysfunction and susceptibility to oxidative stress

(2010) T Cronin et al.   CELL DEATH AND DIFFERENTIATION

Interaction of retinitis pigmentosa GTPase regulator (RPGR) with RAB8A GTPase: implications for cilia dysfunction and photoreceptor degeneration

(2010) C. A. Murga-Zamalloa et al.   HUMAN MOLECULAR GENETICS

EYS is a major gene for rod-cone dystrophies in France

(2010) Isabelle Audo et al.   HUMAN MUTATION

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

(2010) Enza Maria Valente et al.   NATURE GENETICS

The molecular basis of human retinal and vitreoretinal diseases

(2010) Wolfgang Berger et al.   PROGRESS IN RETINAL AND EYE RESEARCH

Mutations in SPATA7 Cause Leber Congenital Amaurosis and Juvenile Retinitis Pigmentosa

(2009) Hui Wang et al.   AMERICAN JOURNAL OF HUMAN GENETICS

Mutations in TRPM1 Are a Common Cause of Complete Congenital Stationary Night Blindness

(2009) Maria M. van Genderen et al.   AMERICAN JOURNAL OF HUMAN GENETICS

TRPM1 Is Mutated in Patients with Autosomal-Recessive Complete Congenital Stationary Night Blindness

(2009) Isabelle Audo et al.   AMERICAN JOURNAL OF HUMAN GENETICS

Recessive Mutations of the Gene TRPM1 Abrogate ON Bipolar Cell Function and Cause Complete Congenital Stationary Night Blindness in Humans

(2009) Zheng Li et al.   AMERICAN JOURNAL OF HUMAN GENETICS

BMP7 and SHH regulate Pax2 in mouse retinal astrocytes by relieving TLX repression

(2009) Rachna Sehgal et al.   DEVELOPMENTAL BIOLOGY

Expressions of rod and cone photoreceptor-like proteins in human epidermis

(2009) Moe Tsutsumi et al.   EXPERIMENTAL DERMATOLOGY

The homeobox gene CHX10/VSX2 regulates RdCVF promoter activity in the inner retina

(2009) Sacha Reichman et al.   HUMAN MOLECULAR GENETICS

NR2E3mutations in enhanced S-cone sensitivity syndrome (ESCS), Goldmann-Favre syndrome (GFS), clumped pigmentary retinal degeneration (CPRD), and retinitis pigmentosa (RP)

(2009) Daniel F. Schorderet et al.   HUMAN MUTATION

The spectrum of phenotypes caused by variants in the CFH gene

(2009) Camiel J.F. Boon et al.   MOLECULAR IMMUNOLOGY

Pias3-Dependent SUMOylation Directs Rod Photoreceptor Development

(2009) Akishi Onishi et al.   NEURON

Retinoid-related orphan nuclear receptor ROR  is an early-acting factor in rod photoreceptor development

(2009) L. Jia et al.   PROCEEDINGS OF THE NATIONAL ACADEMY OF SCIENCES OF THE UNITED STATES OF AMERICA

The spectrum of ocular phenotypes caused by mutations in the BEST1 gene

(2009) Camiel J.F. Boon et al.   PROGRESS IN RETINAL AND EYE RESEARCH

Mutations in the Cilia Gene ARL13B Lead to the Classical Form of Joubert Syndrome

(2008) Vincent Cantagrel et al.   AMERICAN JOURNAL OF HUMAN GENETICS

Identification of a 2 Mb Human Ortholog of Drosophila eyes shut/spacemaker that Is Mutated in Patients with Retinitis Pigmentosa

(2008) Rob W.J. Collin et al.   AMERICAN JOURNAL OF HUMAN GENETICS

Altered visual function in monocarboxylate transporter 3 (Slc16a8) knockout mice

(2008) Lauren L. Daniele et al.   AMERICAN JOURNAL OF PHYSIOLOGY-CELL PHYSIOLOGY

The spectrum of retinal dystrophies caused by mutations in the peripherin/RDS gene

(2008) Camiel J.F. Boon et al.   PROGRESS IN RETINAL AND EYE RESEARCH