Cargando…

Panel-Based Population Next-Generation Sequencing for Inherited Retinal Degenerations

Inherited retinopathies affect approximately two and a half million people globally, yet the majority of affected patients lack clear genetic diagnoses given the diverse range of genes and mutations implicated in these conditions. We present results from a next-generation sequencing study of a large...

Descripción completa

Detalles Bibliográficos
Autores principales:	Carrigan, Matthew, Duignan, Emma, Malone, Conor P. G., Stephenson, Kirk, Saad, Tahira, McDermott, Ciara, Green, Andrew, Keegan, David, Humphries, Peter, Kenna, Paul F., Farrar, G. Jane
Formato:	Online Artículo Texto
Lenguaje:	English
Publicado:	Nature Publishing Group 2016
Materias:	Article
Acceso en línea:	https://www.ncbi.nlm.nih.gov/pmc/articles/PMC5021935/ https://www.ncbi.nlm.nih.gov/pubmed/27624628 http://dx.doi.org/10.1038/srep33248

Ejemplares similares

Target 5000: Target Capture Sequencing for Inherited Retinal Degenerations
por: Dockery, Adrian, et al.
Publicado: (2017)

Clinical and Genetic Re-Evaluation of Inherited Retinal Degeneration Pedigrees following Initial Negative Findings on Panel-Based Next Generation Sequencing
por: Stephenson, Kirk A. J., et al.
Publicado: (2022)

A novel homozygous truncating GNAT1 mutation implicated in retinal degeneration
por: Carrigan, Matthew, et al.
Publicado: (2016)

Toward an elucidation of the molecular genetics of inherited retinal degenerations
por: Farrar, G. Jane, et al.
Publicado: (2017)

Target 5000: a standardized all-Ireland pathway for the diagnosis and management of inherited retinal degenerations
por: Stephenson, Kirk A. J., et al.
Publicado: (2021)

Findings from a Genotyping Study of over 1000 People with Inherited Retinal Disorders in Ireland
por: Whelan, Laura, et al.
Publicado: (2020)

Next-Generation Sequencing Applications for Inherited Retinal Diseases
por: Dockery, Adrian, et al.
Publicado: (2021)

Multimodal imaging in a pedigree of X-linked Retinoschisis with a novel RS1 variant
por: Stephenson, Kirk, et al.
Publicado: (2018)

Electrophysiology-Guided Genetic Characterisation Maximises Molecular Diagnosis in an Irish Paediatric Inherited Retinal Degeneration Population
por: Zhu, Julia, et al.
Publicado: (2022)

microRNA regulatory circuits in a mouse model of inherited retinal degeneration
por: Palfi, Arpad, et al.
Publicado: (2016)

AAV‐mediated gene therapy improving mitochondrial function provides benefit in age‐related macular degeneration models
por: Millington‐Ward, Sophia, et al.
Publicado: (2022)

Usher Syndrome on the Island of Ireland: A Genotype-Phenotype Review
por: Stephenson, Kirk A. J., et al.
Publicado: (2023)

A FBN1 variant manifesting as non-syndromic ectopia lentis with retinal detachment: clinical and genetic characteristics
por: Stephenson, Kirk A. J., et al.
Publicado: (2019)

Identification of Novel Serum MicroRNAs in Age-Related Macular Degeneration
por: ElShelmani, Hanan, et al.
Publicado: (2020)

The Role of Deregulated MicroRNAs in Age-Related Macular Degeneration Pathology
por: ElShelmani, Hanan, et al.
Publicado: (2021)

Assessment of the incorporation of CNV surveillance into gene panel next-generation sequencing testing for inherited retinal diseases
por: Ellingford, Jamie M, et al.
Publicado: (2018)

A comprehensive targeted next‐generation sequencing panel for genetic diagnosis of patients with suspected inherited thrombocytopenia
por: Johnson, Ben, et al.
Publicado: (2018)

Development and Validation of a 34-Gene Inherited Cancer Predisposition Panel Using Next-Generation Sequencing
por: Rosenthal, Sun Hee, et al.
Publicado: (2020)

Panel‐based next‐generation sequencing identifies novel mutations in Bulgarian patients with inherited retinal dystrophies
por: Kamenarova, Kunka, et al.
Publicado: (2022)

Optimisation of AAV-NDI1 Significantly Enhances Its Therapeutic Value for Correcting Retinal Mitochondrial Dysfunction
por: Chadderton, Naomi, et al.
Publicado: (2023)

Inherited Retinal Degenerations: Current Landscape and Knowledge Gaps
por: Duncan, Jacque L., et al.
Publicado: (2018)

Non-photoreceptor Expression of Tulp1 May Contribute to Extensive Retinal Degeneration in Tulp1-/- Mice
por: Palfi, Arpad, et al.
Publicado: (2020)

AAV-Delivered Tulp1 Supplementation Therapy Targeting Photoreceptors Provides Minimal Benefit in Tulp1−/− Retinas
por: Palfi, Arpad, et al.
Publicado: (2020)

Optimized OPA1 Isoforms 1 and 7 Provide Therapeutic Benefit in Models of Mitochondrial Dysfunction
por: Maloney, Daniel M., et al.
Publicado: (2020)

Detailed analysis of an enriched deep intronic ABCA4 variant in Irish Stargardt disease patients
por: Whelan, Laura, et al.
Publicado: (2023)

RPE-Directed Gene Therapy Improves Mitochondrial Function in Murine Dry AMD Models
por: Millington-Ward, Sophia, et al.
Publicado: (2023)

Next-Generation Sequencing Gene Panels in Inheritable Cardiomyopathies and Channelopathies: Prevalence of Pathogenic Variants and Variants of Unknown Significance in Uncommon Genes
por: Mazzaccara, Cristina, et al.
Publicado: (2022)

Inherited Retinal Degeneration: Genetics, Disease Characterization, and Outcome Measures
por: Khan, Naheed W., et al.
Publicado: (2017)

Novel 199 base pair NEFH promoter drives expression in retinal ganglion cells
por: Millington-Ward, Sophia, et al.
Publicado: (2020)

Role of Translational Attenuation in Inherited Retinal Degeneration
por: Starr, Christopher R., et al.
Publicado: (2019)

Drug Discovery Strategies for Inherited Retinal Degenerations
por: Das, Arupratan, et al.
Publicado: (2022)

Optogenetic approaches to therapy for inherited retinal degenerations
por: De Silva, Samantha R., et al.
Publicado: (2022)

The Next Generation of Molecular and Cellular Therapeutics for Inherited Retinal Disease
por: Martinez Velazquez, Luis A., et al.
Publicado: (2021)

Whole genome sequencing and in vitro splice assays reveal genetic causes for inherited retinal diseases
por: Fadaie, Zeinab, et al.
Publicado: (2021)

Inherited Cancer in the Age of Next-Generation Sequencing
por: Price, Kristin S., et al.
Publicado: (2018)

The ‘Next People’: And the Zombies Shall Inherit the Earth
por: Carrington, Victoria
Publicado: (2015)

Evaluation of gene panels for inherited cardiac disease—is less more?
por: Dooijes, D., et al.
Publicado: (2019)

A Mafia mouse model for inherited retinal degeneration
Publicado: (2013)

Targeting molecular pathways for the treatment of inherited retinal degeneration
por: Kutluer, Meltem, et al.
Publicado: (2020)

Genetic characteristics and epidemiology of inherited retinal degeneration in Taiwan
por: Chen, Ta-Ching, et al.
Publicado: (2021)

Cannot write session to /tmp/vufind_sessions/sess_5erlg8m3fa3ct68cdn2f6hj0uc