Next-generation sequencing applied to a large French cone and cone-rod dystrophy cohort: mutation spectrum and new genotype-phenotype correlation

The cone dysfunction syndromes: Table 1

(2015) Jonathan Aboshiha et al.   BRITISH JOURNAL OF OPHTHALMOLOGY

Biallelic Variants in TTLL5, Encoding a Tubulin Glutamylase, Cause Retinal Dystrophy

(2014) Panagiotis I. Sergouniotis et al.   AMERICAN JOURNAL OF HUMAN GENETICS

Autosomal recessive cone–rod dystrophy associated with compound heterozygous mutations in the EYS gene

(2014) Satoshi Katagiri et al.   DOCUMENTA OPHTHALMOLOGICA

Enzymatic Polymerization of Cyclic Monomers in Ionic Liquids as a Prospective Synthesis Method for Polyesters Used in Drug Delivery Systems

(2014) Urszula Piotrowska et al.   MOLECULES

Combined Genetic and High-Throughput Strategies for Molecular Diagnosis of Inherited Retinal Dystrophies

(2014) Marta de Castro-Miró et al.   PLoS One

Causes and consequences of inherited cone disorders

(2014) Susanne Roosing et al.   PROGRESS IN RETINAL AND EYE RESEARCH

Nonpenetrance of the Most Frequent Autosomal Recessive Leber Congenital Amaurosis Mutation inNMNAT1

(2014) Anna M. Siemiatkowska et al.   JAMA Ophthalmology

Mutations in RAB28, Encoding a Farnesylated Small GTPase, Are Associated with Autosomal-Recessive Cone-Rod Dystrophy

(2013) Susanne Roosing et al.   AMERICAN JOURNAL OF HUMAN GENETICS

Panel-based next generation sequencing as a reliable and efficient technique to detect mutations in unselected patients with retinal dystrophies

(2013) Nicola Glöckle et al.   EUROPEAN JOURNAL OF HUMAN GENETICS

Next generation sequencing-based molecular diagnosis of retinitis pigmentosa: identification of a novel genotype-phenotype correlation and clinical refinements

(2013) Feng Wang et al.   HUMAN GENETICS

Non-exomic and synonymous variants in ABCA4 are an important cause of Stargardt disease

(2013) Terry A. Braun et al.   HUMAN MOLECULAR GENETICS

Screening of a Large Cohort of Leber Congenital Amaurosis and Retinitis Pigmentosa Patients Identifies Novel LCA5 Mutations and New Genotype-Phenotype Correlations

(2013) Donna S. Mackay et al.   HUMAN MUTATION

Maternal Uniparental Isodisomy of Chromosome 6 Reveals a TULP1 Mutation as a Novel Cause of Cone Dysfunction

(2013) Susanne Roosing et al.   OPHTHALMOLOGY

Screening for duplications, deletions and a common intronic mutation detects 35% of second mutations in patients with USH2A monoallelic mutations on Sanger sequencing

(2013) Heather B Steele-Stallard et al.   Orphanet Journal of Rare Diseases

Exome Sequencing of 47 Chinese Families with Cone-Rod Dystrophy: Mutations in 25 Known Causative Genes

(2013) Li Huang et al.   PLoS One

Early-Onset Foveal Involvement in Retinitis Punctata Albescens With Mutations inRLBP1

(2013) Elodie Dessalces et al.   JAMA Ophthalmology

Next-generation sequencing (NGS) as a diagnostic tool for retinal degeneration reveals a much higher detection rate in early-onset disease

(2012) Morag E Shanks et al.   EUROPEAN JOURNAL OF HUMAN GENETICS

Autozygome-guided exome sequencing in retinal dystrophy patients reveals pathogenetic mutations and novel candidate disease genes

(2012) L. Abu-Safieh et al.   GENOME RESEARCH

Next-generation genetic testing for retinitis pigmentosa

(2012) Kornelia Neveling et al.   HUMAN MUTATION

A paradigm shift in the delivery of services for diagnosis of inherited retinal disease

(2012) James O'Sullivan et al.   JOURNAL OF MEDICAL GENETICS

Mutations in NMNAT1 cause Leber congenital amaurosis with early-onset severe macular and optic atrophy

(2012) Isabelle Perrault et al.   NATURE GENETICS

NMNAT1 mutations cause Leber congenital amaurosis

(2012) Marni J Falk et al.   NATURE GENETICS

Exome sequencing identifies NMNAT1 mutations as a cause of Leber congenital amaurosis

(2012) Pei-Wen Chiang et al.   NATURE GENETICS

Mutations in NMNAT1 cause Leber congenital amaurosis and identify a new disease pathway for retinal degeneration

(2012) Robert K Koenekoop et al.   NATURE GENETICS

Clinical Course, Genetic Etiology, and Visual Outcome in Cone and Cone–Rod Dystrophy

(2012) Alberta A.H.J. Thiadens et al.   OPHTHALMOLOGY

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

(2012) Isabelle Audo et al.   Orphanet Journal of Rare Diseases

PATHOGNOMONIC (DIAGNOSTIC) ERGs A Review and Update

(2012) Ajoy Vincent et al.   RETINA-THE JOURNAL OF RETINAL AND VITREOUS 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

CRB1mutations in inherited retinal dystrophies

(2011) Kinga Bujakowska et al.   HUMAN MUTATION

Mutations in C2ORF71 Cause Autosomal-Recessive Retinitis Pigmentosa

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

Phenotypic variability in patients with retinal dystrophies due to mutations in CRB1

(2010) R. H. Henderson et al.   BRITISH JOURNAL OF OPHTHALMOLOGY

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

(2010) Isabelle Audo et al.   HUMAN MUTATION

Mutation spectrum of EYS in Spanish patients with autosomal recessive retinitis pigmentosa

(2010) Isabel Barragán et al.   HUMAN MUTATION

Molecular diagnosis for heterogeneous genetic diseases with targeted high-throughput DNA sequencing applied to retinitis pigmentosa

(2010) D. A. Simpson et al.   JOURNAL OF MEDICAL GENETICS

A method and server for predicting damaging missense mutations

(2010) Ivan A Adzhubei et al.   NATURE METHODS

MutationTaster evaluates disease-causing potential of sequence alterations

(2010) Jana Marie Schwarz et al.   NATURE METHODS

Mutations in CNNM4 Cause Jalili Syndrome, Consisting of Autosomal-Recessive Cone-Rod Dystrophy and Amelogenesis Imperfecta

(2009) David A. Parry et al.   AMERICAN JOURNAL OF HUMAN GENETICS

Predicting the effects of coding non-synonymous variants on protein function using the SIFT algorithm

(2009) Prateek Kumar et al.   Nature Protocols

Molecular analysis of the ABCA4 gene for reliable detection of allelic variations in Spanish patients: identification of 21 novel variants

(2008) J Aguirre-Lamban et al.   BRITISH JOURNAL OF OPHTHALMOLOGY

ABCA4 gene analysis in patients with autosomal recessive cone and cone rod dystrophies

(2008) Veronique B D Kitiratschky et al.   EUROPEAN JOURNAL OF HUMAN GENETICS

The Negative ERG: Clinical Phenotypes and Disease Mechanisms of Inner Retinal Dysfunction

(2008) Isabelle Audo et al.   SURVEY OF OPHTHALMOLOGY