Alternative splicing of mRNA is an essential mechanism to regulate and increase the
diversity of the transcriptome and proteome. Alternative splicing frequently occurs in a tissue …

High throughput sequencing technologies have revolutionized the identification of mutations
responsible for a diverse set of Mendelian disorders, including inherited retinal disorders …

In this work, we aimed to provide the genetic diagnosis of a large cohort of patients affected
with inherited retinal dystrophies (IRDs) from Mexico. Our data add valuable information to …

To enhance the use of Whole Genome Sequencing (WGS) in clinical practice, it is still
necessary to standardize data analysis pipelines. Herein, we aimed to define a WGS-based …

The purpose of this study was to develop a flexible, cost-efficient, next-generation
sequencing (NGS) protocol for genetic testing. Long-range polymerase chain reaction …

Mutations in POC1B are a rare cause of inherited retinal degeneration. In this study, we
present a thorough phenotypic and genotypic characterization of three individuals harboring …

Purpose To describe the results of clinical and molecular analyses in a group of patients
suffering from inherited macular dystrophies, in which next-generation sequencing (NGS) …

Non-canonical splice site variants are increasingly recognized as a relevant cause of the
USH2A-associated diseases, non-syndromic autosomal recessive retinitis pigmentosa and …

ABSTRACT Background Retinal dystrophies (RDs) are the most common cause of inherited
blindness worldwide and are caused by genetic defects in about 300 different genes. While …

X-linked retinitis pigmentosa (XLRP) caused by mutations in the RPGR gene is one of the
most severe forms of RP due to its early onset and intractable progression. Most cases have …