Inherited retinal diseases: linking genes, disease-causing variants, and relevant therapeutic modalities
N Schneider, Y Sundaresan, P Gopalakrishnan… - Progress in retinal and …, 2022 - Elsevier
Inherited retinal diseases (IRDs) are a clinically complex and heterogenous group of visual
impairment phenotypes caused by pathogenic variants in at least 277 nuclear and …
impairment phenotypes caused by pathogenic variants in at least 277 nuclear and …
Inherited Retinal Diseases Due to RPE65 Variants: From Genetic Diagnostic Management to Therapy
M Aoun, I Passerini, P Chiurazzi, M Karali… - International Journal of …, 2021 - mdpi.com
Inherited retinal diseases (IRDs) are a heterogeneous group of conditions that include
retinitis pigmentosa (RP) and Leber congenital amaurosis (LCA) and early-onset severe …
retinitis pigmentosa (RP) and Leber congenital amaurosis (LCA) and early-onset severe …
Multidisciplinary team directed analysis of whole genome sequencing reveals pathogenic non-coding variants in molecularly undiagnosed inherited retinal …
M Daich Varela, J Bellingham, F Motta… - Human molecular …, 2023 - academic.oup.com
The purpose of this paper is to identify likely pathogenic non-coding variants in inherited
retinal dystrophy (IRD) genes, using genome sequencing (GS). Patients with IRD were …
retinal dystrophy (IRD) genes, using genome sequencing (GS). Patients with IRD were …
CACNA1I gain-of-function mutations differentially affect channel gating and cause neurodevelopmental disorders
Y El Ghaleb, PE Schneeberger… - Brain, 2021 - academic.oup.com
T-type calcium channels (Cav3. 1 to Cav3. 3) regulate low-threshold calcium spikes, burst
firing and rhythmic oscillations of neurons and are involved in sensory processing, sleep …
firing and rhythmic oscillations of neurons and are involved in sensory processing, sleep …
Next-generation sequencing applications for inherited retinal diseases
A Dockery, L Whelan, P Humphries… - International Journal of …, 2021 - mdpi.com
Inherited retinal diseases (IRDs) represent a collection of phenotypically and genetically
diverse conditions. IRDs phenotype (s) can be isolated to the eye or can involve multiple …
diverse conditions. IRDs phenotype (s) can be isolated to the eye or can involve multiple …
Phenotype driven analysis of whole genome sequencing identifies deep intronic variants that cause retinal dystrophies by aberrant exonization
Purpose: To demonstrate the effectiveness of combining retinal phenotyping and focused
variant filtering from genome sequencing (GS) in identifying deep intronic disease causing …
variant filtering from genome sequencing (GS) in identifying deep intronic disease causing …
Unmasking Retinitis Pigmentosa complex cases by a whole genome sequencing algorithm based on open-access tools: hidden recessive inheritance and potential …
M Gonzalez-del Pozo, E Fernández-Suárez… - Journal of translational …, 2020 - Springer
Abstract Background Retinitis Pigmentosa (RP) is a clinically and genetically heterogeneous
disorder that results in inherited blindness. Despite the large number of genes identified …
disorder that results in inherited blindness. Despite the large number of genes identified …
Variants in UBAP1L lead to autosomal recessive rod-cone and cone-rod dystrophy
C Zeitz, J Navarro, LA Pormehr, C Méjécase… - Genetics in …, 2024 - Elsevier
Purpose Progressive inherited retinal degenerations (IRDs) affecting rods and cones are
clinically and genetically heterogeneous and can lead to blindness with limited therapeutic …
clinically and genetically heterogeneous and can lead to blindness with limited therapeutic …
Whole exome sequencing of 491 individuals with inherited retinal diseases reveals a large spectrum of variants and identification of novel candidate genes
T Hayman, T Millo, K Hendler, I Chowers… - Journal of Medical …, 2024 - jmg.bmj.com
Background Inherited retinal diseases (IRDs) include a range of vision loss conditions
caused by variants in different genes. The clinical and genetic heterogeneity make …
caused by variants in different genes. The clinical and genetic heterogeneity make …
Using an integrative machine learning approach utilising homology modelling to clinically interpret genetic variants: CACNA1F as an exemplar
SR Sallah, PI Sergouniotis, S Barton… - European Journal of …, 2020 - nature.com
Advances in DNA sequencing technologies have revolutionised rare disease diagnostics
and have led to a dramatic increase in the volume of available genomic data. A key …
and have led to a dramatic increase in the volume of available genomic data. A key …