Genes and mutations causing retinitis pigmentosa
SP Daiger, LS Sullivan, SJ Bowne - Clinical genetics, 2013 - Wiley Online Library
Retinitis pigmentosa (RP) is a heterogeneous set of inherited retinopathies with many
disease‐causing genes, many known mutations, and highly varied clinical consequences …
disease‐causing genes, many known mutations, and highly varied clinical consequences …
The diagnostic yield of next generation sequencing in inherited retinal diseases: a systematic review and meta-analysis
AC Britten-Jones, SA Gocuk, KL Goh, A Huq… - American Journal of …, 2023 - Elsevier
PURPOSE Accurate genotyping of individuals with inherited retinal diseases (IRD) is
essential for patient management and identifying suitable candidates for gene therapies …
essential for patient management and identifying suitable candidates for gene therapies …
The impact of modifier genes on cone-rod dystrophy heterogeneity: An explorative familial pilot study and a hypothesis on neurotransmission impairment
L Donato, S Alibrandi, C Scimone, C Rinaldi… - PLoS …, 2022 - journals.plos.org
Cone-rod dystrophies (CORDs) are a heterogeneous group of inherited retinopathies (IRDs)
with more than 30 already known disease-causing genes. Uncertain phenotypes and …
with more than 30 already known disease-causing genes. Uncertain phenotypes and …
A Post‐Hoc Comparison of the Utility of S anger Sequencing and Exome Sequencing for the Diagnosis of Heterogeneous Diseases
K Neveling, I Feenstra, C Gilissen… - Human …, 2013 - Wiley Online Library
The advent of massive parallel sequencing is rapidly changing the strategies employed for
the genetic diagnosis and research of rare diseases that involve a large number of genes …
the genetic diagnosis and research of rare diseases that involve a large number of genes …
Clinical and genetic characteristics of 251 consecutive patients with macular and cone/cone-rod dystrophy
J Birtel, T Eisenberger, M Gliem, PL Müller… - Scientific reports, 2018 - nature.com
Macular and cone/cone-rod dystrophies (MD/CCRD) demonstrate a broad genetic and
phenotypic heterogeneity, with retinal alterations solely or predominantly involving the …
phenotypic heterogeneity, with retinal alterations solely or predominantly involving the …
Panel-based next generation sequencing as a reliable and efficient technique to detect mutations in unselected patients with retinal dystrophies
N Glöckle, S Kohl, J Mohr, T Scheurenbrand… - European journal of …, 2014 - nature.com
Hereditary retinal dystrophies (RD) constitute a group of blinding diseases that are
characterized by clinical variability and pronounced genetic heterogeneity. The different …
characterized by clinical variability and pronounced genetic heterogeneity. The different …
Diagnostic genome sequencing improves diagnostic yield: a prospective single-centre study in 1000 patients with inherited eye diseases
N Weisschuh, P Mazzola, T Zuleger… - Journal of medical …, 2024 - jmg.bmj.com
Purpose Genome sequencing (GS) is expected to reduce the diagnostic gap in rare disease
genetics. We aimed to evaluate a scalable framework for genome-based analyses 'beyond …
genetics. We aimed to evaluate a scalable framework for genome-based analyses 'beyond …
Next generation sequencing-based molecular diagnosis of retinitis pigmentosa: identification of a novel genotype-phenotype correlation and clinical refinements
Retinitis pigmentosa (RP) is a devastating form of retinal degeneration, with significant
social and professional consequences. Molecular genetic information is invaluable for an …
social and professional consequences. Molecular genetic information is invaluable for an …
Increasing the yield in targeted next-generation sequencing by implicating CNV analysis, non-coding exons and the overall variant load: the example of retinal …
T Eisenberger, C Neuhaus, AO Khan, C Decker… - PloS one, 2013 - journals.plos.org
Retinitis pigmentosa (RP) and Leber congenital amaurosis (LCA) are major causes of
blindness. They result from mutations in many genes which has long hampered …
blindness. They result from mutations in many genes which has long hampered …
Personalized diagnosis and management of congenital cataract by next-generation sequencing
RL Gillespie, J O'Sullivan, J Ashworth, S Bhaskar… - Ophthalmology, 2014 - Elsevier
Purpose To assess the utility of integrating genomic data from next-generation sequencing
and phenotypic data to enhance the diagnosis of bilateral congenital cataract (CC). Design …
and phenotypic data to enhance the diagnosis of bilateral congenital cataract (CC). Design …