Retinal development and maturation are orchestrated by a series of interacting signalling
networks that drive the morphogenetic transformation of the anterior developing brain …

Early in vivo embryonic retinal development is a well-documented and evolutionary
conserved process. The specification towards eye development is temporally controlled by …

Five years on from our award-winning review on Nextgeneration sequencing and emerging
technologies, 1 a rapid pace of fundamental advances has markedly altered the landscape …

Our understanding of inherited retinal disease has benefited immensely from molecular
genetic analysis over the past several decades. New technologies that allow for increasingly …

Abstract The Foundation Fighting Blindness is a 50‐year old 501c (3) non‐profit
organization dedicated to supporting the development of treatments and cures for people …

Mutations which induce aberrant transcript splicing represent a distinct class of disease-
causing genetic variants in retinal disease genes. Such mutations may either weaken or …

Purpose: Multi-omics offer worthwhile and increasingly accessible technologies to
diagnostic laboratories seeking potential second-tier strategies to help patients with …

Exome sequencing and panel testing have improved diagnostic yield in genetic analysis by
comprehensively detecting pathogenic variants in exonic regions. However, it is important to …

Joubert syndrome (JS) is a genetically heterogeneous neurodevelopmental ciliopathy.
Despite exome sequencing (ES), several patients remain undiagnosed. This study aims to …

Background Optimization of an RNA-Sequencing (RNA-Seq) pipeline is critical to maximize
power and accuracy to identify genetic variants, including SNPs, which may serve as genetic …