Homozygosity mapping and whole-genome sequencing reveals a deep intronic PROM1 mutation causing cone–rod dystrophy by pseudoexon activation

Compound Heterozygosity of Low-Frequency Promoter Deletions and Rare Loss-of-Function Mutations in TXNL4A Causes Burn-McKeown Syndrome

(2014) Dagmar Wieczorek et al.   AMERICAN JOURNAL OF HUMAN GENETICS

An AugmentedABCA4Screen Targeting Noncoding Regions Reveals a Deep Intronic Founder Variant in Belgian Stargardt Patients

(2014) Miriam Bauwens et al.   HUMAN MUTATION

Heterozygous Deep-Intronic Variants and Deletions inABCA4in Persons with Retinal Dystrophies and One ExonicABCA4Variant

(2014) Nathalie M. Bax et al.   HUMAN MUTATION

Molecular Diagnosis of Putative Stargardt Disease by Capture Next Generation Sequencing

(2014) Xiao Zhang et al.   PLoS One

Causes and consequences of inherited cone disorders

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

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 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

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

(2012) T. R. Webb et al.   HUMAN MOLECULAR GENETICS

Usher syndrome type 2 caused by activation of an USH2A pseudoexon: Implications for diagnosis and therapy

(2011) Christel Vaché et al.   HUMAN MUTATION

Integrative genomics viewer

(2011) James T Robinson et al.   NATURE BIOTECHNOLOGY

HomozygosityMapper--an interactive approach to homozygosity mapping

(2009) D. Seelow et al.   NUCLEIC ACIDS RESEARCH