Mapping the genomic landscape of inherited retinal disease genes prioritizes genes prone to coding and noncoding copy-number variations

Copy-Number Variation Contributes to the Mutational Load of Bardet-Biedl Syndrome

(2016) Anna Lindstrand et al.   AMERICAN JOURNAL OF HUMAN GENETICS

Mutations in REEP6 Cause Autosomal-Recessive Retinitis Pigmentosa

(2016) Gavin Arno et al.   AMERICAN JOURNAL OF HUMAN GENETICS

Enhanced diagnostic yield in Meckel-Gruber and Joubert syndrome through exome sequencing supplemented with split-read mapping

(2016) Christopher M. Watson et al.   BMC Medical Genetics

arrEYE: a customized platform for high-resolution copy number analysis of coding and noncoding regions of known and candidate retinal dystrophy genes and retinal noncoding RNAs

(2016) Caroline Van Cauwenbergh et al.   GENETICS IN MEDICINE

Copy-number variation is an important contributor to the genetic causality of inherited retinal degenerations

(2016) Kinga M. Bujakowska et al.   GENETICS IN MEDICINE

Identification of genomic deletions causing inherited retinal degenerations by coverage analysis of whole exome sequencing data

(2016) Samer Khateb et al.   JOURNAL OF MEDICAL GENETICS

Mechanisms underlying structural variant formation in genomic disorders

(2016) Claudia M. B. Carvalho et al.   NATURE REVIEWS GENETICS

North Carolina Macular Dystrophy Is Caused by Dysregulation of the Retinal Transcription Factor PRDM13

(2016) Kent W. Small et al.   OPHTHALMOLOGY

Mutation Detection in Patients with Retinal Dystrophies Using Targeted Next Generation Sequencing

(2016) Nicole Weisschuh et al.   PLoS One

High Diagnostic Yield of Whole Exome Sequencing in Participants With Retinal Dystrophies in a Clinical Ophthalmology Setting

(2015) Kristy Lee et al.   AMERICAN JOURNAL OF OPHTHALMOLOGY

WholeUSH2AGene Sequencing Identifies Several New Deep Intronic Mutations

(2015) Alessandro Liquori et al.   HUMAN MUTATION

Hidden Genetic Variation in LCA9-Associated Congenital Blindness Explained by 5′UTR Mutations and Copy-Number Variations ofNMNAT1

(2015) Frauke Coppieters et al.   HUMAN MUTATION

MEF2D Drives Photoreceptor Development through a Genome-wide Competition for Tissue-Specific Enhancers

(2015) Milena M. Andzelm et al.   NEURON

Genome-wide analyses of LINE–LINE-mediated nonallelic homologous recombination

(2015) Michał Startek et al.   NUCLEIC ACIDS RESEARCH

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

(2015) Elise Boulanger-Scemama et al.   Orphanet Journal of Rare Diseases

Application of Whole Exome Sequencing in Six Families with an Initial Diagnosis of Autosomal Dominant Retinitis Pigmentosa: Lessons Learned

(2015) Berta Almoguera et al.   PLoS One

Whole Exome Sequencing Reveals Mutations in Known Retinal Disease Genes in 33 out of 68 Israeli Families with Inherited Retinopathies

(2015) Avigail Beryozkin et al.   Scientific Reports

Comparative Genomic Analyses of the Human NPHP1 Locus Reveal Complex Genomic Architecture and Its Regional Evolution in Primates

(2015) Bo Yuan et al.   PLoS Genetics

The Alu-Rich Genomic Architecture of SPAST Predisposes to Diverse and Functionally Distinct Disease-Associated CNV Alleles

(2014) Philip M. Boone et al.   AMERICAN JOURNAL OF HUMAN GENETICS

An Evaluation of Copy Number Variation Detection Tools from Whole-Exome Sequencing Data

(2014) Renjie Tan et al.   HUMAN MUTATION

Targeted sequencing by proximity ligation for comprehensive variant detection and local haplotyping

(2014) Paula J P de Vree et al.   NATURE BIOTECHNOLOGY

The Database of Genomic Variants: a curated collection of structural variation in the human genome

(2013) Jeffrey R. MacDonald et al.   NUCLEIC ACIDS RESEARCH

Autosomal Recessive Bestrophinopathy

(2013) Camiel J.F. Boon 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

Increasing the Yield in Targeted Next-Generation Sequencing by Implicating CNV Analysis, Non-Coding Exons and the Overall Variant Load: The Example of Retinal Dystrophies

(2013) Tobias Eisenberger et al.   PLoS One

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

Microhomology-Mediated Mechanisms Underlie Non-Recurrent Disease-Causing Microdeletions of the FOXL2 Gene or Its Regulatory Domain

(2013) Hannah Verdin et al.   PLoS Genetics

Alu-specific microhomology-mediated deletion of the final exon of SPAST in three unrelated subjects with hereditary spastic paraplegia

(2011) Philip M Boone et al.   GENETICS IN MEDICINE

Autosomal-Recessive Early-Onset Retinitis Pigmentosa Caused by a Mutation in PDE6G, the Gene Encoding the Gamma Subunit of Rod cGMP Phosphodiesterase

(2010) Liron Dvir et al.   AMERICAN JOURNAL OF HUMAN GENETICS

Lighting a candle in the dark: advances in genetics and gene therapy of recessive retinal dystrophies

(2010) Anneke I. den Hollander et al.   JOURNAL OF CLINICAL INVESTIGATION

Widespread transcription at neuronal activity-regulated enhancers

(2010) Tae-Kyung Kim et al.   NATURE

Analysis of copy number variants and segmental duplications in the human genome: Evidence for a change in the process of formation in recent evolutionary history

(2008) P. M. Kim et al.   GENOME RESEARCH