Cargando…

Mutation Screening of Retinal Dystrophy Patients by Targeted Capture from Tagged Pooled DNAs and Next Generation Sequencing

PURPOSE: Retinal dystrophies are genetically heterogeneous, resulting from mutations in over 200 genes. Prior to the development of massively parallel sequencing, comprehensive genetic screening was unobtainable for most patients. Identifying the causative genetic mutation facilitates genetic counse...

Descripción completa

Detalles Bibliográficos
Autores principales:	Watson, Christopher M., El-Asrag, Mohammed, Parry, David A., Morgan, Joanne E., Logan, Clare V., Carr, Ian M., Sheridan, Eamonn, Charlton, Ruth, Johnson, Colin A., Taylor, Graham, Toomes, Carmel, McKibbin, Martin, Inglehearn, Chris F., Ali, Manir
Formato:	Online Artículo Texto
Lenguaje:	English
Publicado:	Public Library of Science 2014
Materias:	Research Article
Acceso en línea:	https://www.ncbi.nlm.nih.gov/pmc/articles/PMC4136783/ https://www.ncbi.nlm.nih.gov/pubmed/25133751 http://dx.doi.org/10.1371/journal.pone.0104281

Ejemplares similares

Long-Read Nanopore Sequencing of RPGR ORF15 is Enhanced Following DNase I Treatment of MinION Flow Cells
por: Yahya, Samar, et al.
Publicado: (2023)

Novel homozygous mutations in the transcription factor NRL cause non-syndromic retinitis pigmentosa
por: El-Asrag, Mohammed E., et al.
Publicado: (2022)

Novel SIX6 mutations cause recessively inherited congenital cataract, microcornea, and corneal opacification with or without coloboma and microphthalmia
por: Panagiotou, Evangelia S., et al.
Publicado: (2022)

Targeted nanopore sequencing enables complete characterisation of structural deletions initially identified using exon‐based short‐read sequencing strategies
por: McClinton, Benjamin, et al.
Publicado: (2023)

Next generation sequencing identifies mutations in Atonal homolog 7 (ATOH7) in families with global eye developmental defects
por: Khan, Kamron, et al.
Publicado: (2012)

Loss of the Metalloprotease ADAM9 Leads to Cone-Rod Dystrophy in Humans and Retinal Degeneration in Mice
por: Parry, David A., et al.
Publicado: (2009)

Effective smMIPs-Based Sequencing of Maculopathy-Associated Genes in Stargardt Disease Cases and Allied Maculopathies from the UK
por: Mc Clinton, Benjamin, et al.
Publicado: (2023)

Novel C8orf37 mutations cause retinitis pigmentosa in consanguineous families of Pakistani origin
por: Ravesh, Zeinab, et al.
Publicado: (2015)

A new recessively inherited disorder composed of foveal hypoplasia, optic nerve decussation defects and anterior segment dysgenesis maps to chromosome 16q23.3-24.1
por: Al-Araimi, Musallam, et al.
Publicado: (2013)

Identification of Inherited Retinal Disease-Associated Genetic Variants in 11 Candidate Genes
por: Astuti, Galuh D. N., et al.
Publicado: (2018)

Congenital Hereditary Endothelial Dystrophy Caused by SLC4A11 Mutations Progresses to Harboyan Syndrome
por: Siddiqui, Salina, et al.
Publicado: (2013)

The ciliary Frizzled-like receptor Tmem67 regulates canonical Wnt/β-catenin signalling in the developing cerebellum via Hoxb5
por: Abdelhamed, Zakia A., et al.
Publicado: (2019)

A missense variant in CST3 exerts a recessive effect on susceptibility to age-related macular degeneration resembling its association with Alzheimer’s disease
por: Butler, Joe M., et al.
Publicado: (2015)

Rapid Visualisation of Microarray Copy Number Data for the Detection of Structural Variations Linked to a Disease Phenotype
por: Carr, Ian M., et al.
Publicado: (2012)

A missense mutation in the nuclear localization signal sequence of CERKL (p.R106S) causes autosomal recessive retinal degeneration
por: Ali, Manir, et al.
Publicado: (2008)

Unlocking the potential of the UK 100,000 Genomes Project—lessons learned from analysis of the “Congenital Malformations caused by Ciliopathies” cohort
por: Best, Sunayna, et al.
Publicado: (2022)

Vademecum del cuidador de Caballos/
por: McKibbin, Lloyd S.
Publicado: (1979)

A GWEP COLLABORATION: IMPLEMENTING THE AWV IN A RURAL PRIMARY CARE CLINIC
por: McKibbin, Christine
Publicado: (2019)

Decolonising Canadian water governance: lessons from Indigenous case studies
por: McKibbin, Corey
Publicado: (2023)

Reflex: intramolecular barcoding of long-range PCR products for sequencing multiple pooled DNAs
por: Casbon, James A., et al.
Publicado: (2013)

Subcellular localization of Mayven following expression of wild type and mutant EGFP tagged cDNAs
por: Montague, Paul, et al.
Publicado: (2010)

Biallelic sequence and structural variants in RAX2 are a novel cause for autosomal recessive inherited retinal disease
por: Van de Sompele, Stijn, et al.
Publicado: (2018)

Correction: Biallelic sequence and structural variants in RAX2 are a novel cause for autosomal recessive inherited retinal disease
por: Van de Sompele, Stijn, et al.
Publicado: (2019)

DYNC2H1 hypomorphic or retina-predominant variants cause nonsyndromic retinal degeneration
por: Vig, Anjali, et al.
Publicado: (2020)

Rare retinal complications of bone marrow transplantation (BMT): a case report
por: Butt, Farhat, et al.
Publicado: (2018)

THE POWER OF RURAL PARTNERSHIP: MEETING NEEDS AND FOSTERING INNOVATION THROUGH THE WYOMING GWEP
por: McKibbin, Christine, et al.
Publicado: (2022)

The Meckel-Gruber syndrome protein TMEM67 controls basal body positioning and epithelial branching morphogenesis in mice via the non-canonical Wnt pathway
por: Abdelhamed, Zakia A., et al.
Publicado: (2015)

Detection of Slipped-DNAs at the Trinucleotide Repeats of the Myotonic Dystrophy Type I Disease Locus in Patient Tissues
por: Axford, Michelle M., et al.
Publicado: (2013)

Homozygous FOXE3 mutations cause non-syndromic, bilateral, total sclerocornea, aphakia, microphthalmia and optic disc coloboma
por: Ali, Manir, et al.
Publicado: (2010)

New Advances in Tissue Metabolomics: A Review
por: Saoi, Michelle, et al.
Publicado: (2021)

Robust Diagnostic Genetic Testing Using Solution Capture Enrichment and a Novel Variant-Filtering Interface
por: Watson, Christopher M, et al.
Publicado: (2014)

Behavioral Tagging: A Translation of the Synaptic Tagging and Capture Hypothesis
por: Moncada, Diego, et al.
Publicado: (2015)

Identification of a novel splice-site mutation in the Lebercilin (LCA5) gene causing Leber congenital amaurosis
por: Ramprasad, Vedam Lakshmi, et al.
Publicado: (2008)

Vitreoretinal interface abnormalities in middle-aged adults with visual impairment in the UK Biobank study: prevalence, impact on visual acuity and associations
por: McKibbin, Martin, et al.
Publicado: (2017)

A Global Approach to Energy and the Environment: The G-Cubed Model
por: McKibbin, Warwick J., et al.
Publicado: (2013)

The Meckel-Gruber Syndrome protein TMEM67 (meckelin) regulates basal body planar polarization and non-canonical Wnt signalling via Wnt5a and ROR2
por: Abdelhamed, Z, et al.
Publicado: (2015)

Synaptic tagging and capture in the living rat
por: Shires, K. L., et al.
Publicado: (2012)

New variants and in silico analyses in GRK1 associated Oguchi disease
por: Poulter, James A., et al.
Publicado: (2020)

Transposable elements and circular DNAs
por: Mourier, Tobias
Publicado: (2016)

DNA’s Chiral Spine of Hydration
por: McDermott, M. Luke, et al.
Publicado: (2017)

Cannot write session to /tmp/vufind_sessions/sess_qbvjhhrpte0n5p6li4lu4bkla7