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Viewing ageing eyes: diverse sites of amyloid Beta accumulation in the ageing mouse retina and the up-regulation of macrophages

PloS one, 2010-10, Vol.5 (10), p.e13127

2010

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Retinal Structure, Function, and Molecular Pathologic Features in Gyrate Atrophy

Ophthalmology (Rochester, Minn.), 2012-03, Vol.119 (3), p.596-605

2012

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Complement Component C3 Plays a Critical Role in Protecting the Aging Retina in a Murine Model of Age-Related Macular Degeneration

The American journal of pathology, 2013-08, Vol.183 (2), p.480-492

2013

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Diagnostic yield of panel-based genetic testing in syndromic inherited retinal disease

European journal of human genetics : EJHG, 2020-05, Vol.28 (5), p.576-586

2020

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Clinical utility of genetic testing in 201 preschool children with inherited eye disorders

Genetics in medicine, 2020-04, Vol.22 (4), p.745-751

2020

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An Improved Phenotype-Driven Tool for Rare Mendelian Variant Prioritization: Benchmarking Exomiser on Real Patient Whole-Exome Data

Genes, 2020-04, Vol.11 (4), p.460

2020

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Correction: Clinical utility of genetic testing in 201 preschool children with inherited eye disorders

Genetics in medicine, 2021-10, Vol.23 (10), p.2023-2023

2021

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Natural History and Retinal Structure in Patients with Usher Syndrome Type 1 Owing to MYO7A Mutation

Ophthalmology (Rochester, Minn.), 2014-02, Vol.121 (2), p.580-587

2014

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The value of two-field pattern electroretinogram in routine clinical electrophysiologic practice

Retina (Philadelphia, Pa.), 2012-03, Vol.32 (3), p.588

2012

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Craniofacial linear scleroderma associated with retinal telangiectasia and exudative retinal detachment

Journal of AAPOS, 2017-06, Vol.21 (3), p.251-254

2017

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Correlation between macular morphology and sensitivity in patients with retinitis pigmentosa and hyperautofluorescent ring

Investigative ophthalmology & visual science, 2012-01, Vol.53 (1), p.47-52

2012

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North Carolina Macular Dystrophy: Phenotypic Variability and Computational Analysis of Disease-Associated Noncoding Variants

Investigative ophthalmology & visual science, 2021-06, Vol.62 (7), p.16-16

2021

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A detailed clinical and molecular survey of subjects with nonsyndromic USH2A retinopathy reveals an allelic hierarchy of disease-causing variants

European journal of human genetics : EJHG, 2015-10, Vol.23 (10), p.1318-1327

2015

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Effect of acute hypercapnia during 10-day hypoxic bed rest on posterior eye structures

Journal of applied physiology (1985), 2016-05, Vol.120 (10), p.1241-1248

2016

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Multidisciplinary team directed analysis of whole genome sequencing reveals pathogenic non-coding variants in molecularly undiagnosed inherited retinal dystrophies

Human molecular genetics, 2023-01, Vol.32 (4), p.595-607

2023

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Clinical and Genetic Findings in CTNNA1-Associated Macular Pattern Dystrophy

Ophthalmology (Rochester, Minn.), 2021-06, Vol.128 (6), p.952-955

2021

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The effect of the common c.2299delG mutation in USH2A on RNA splicing

Experimental eye research, 2014-05, Vol.122, p.9-12

2014

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Biallelic Variants in TTLL5, Encoding a Tubulin Glutamylase, Cause Retinal Dystrophy

American journal of human genetics, 2014-05, Vol.94 (5), p.760-769

2014

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Establishing Genotype-phenotype Correlation in USH2A-related Disorders to Personalize Audiological Surveillance and Rehabilitation

Otology & neurotology, 2020-04, Vol.41 (4), p.431

2020

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EyeG2P: an automated variant filtering approach improves efficiency of diagnostic genomic testing for inherited ophthalmic disorders

Journal of medical genetics, 2023-08, Vol.60 (8), p.810

2023

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Clinical heterogeneity in a family with mutations in USH2A

JAMA ophthalmology, 2015-03, Vol.133 (3), p.352

2015

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Atypical presentation of CRB 1 retinopathy

Acta ophthalmologica (Oxford, England), 2016-09, Vol.94 (6)

2016

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Persistent Placoid Maculopathy Complicated by Cerebral Vasculitis

Journal of neuro-ophthalmology, 2017-09, Vol.37 (3), p.273-275

2017

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Screening for duplications, deletions and a common intronic mutation detects 35% of second mutations in patients with USH2A monoallelic mutations on Sanger sequencing

Orphanet journal of rare diseases, 2013-08, Vol.8 (1), p.122-122, Article 122

2013

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Comparison of fundus autofluorescence with photopic and scotopic fine matrix mapping in patients with retinitis pigmentosa: 4- to 8-year follow-up

Investigative ophthalmology & visual science, 2012-09, Vol.53 (10), p.6187-6195

2012

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Viewing ageing eyes: diverse sites of amyloid Beta accumulation in the ageing mouse retina and the up-regulation of macrophages

Retinal Structure, Function, and Molecular Pathologic Features in Gyrate Atrophy

Complement Component C3 Plays a Critical Role in Protecting the Aging Retina in a Murine Model of Age-Related Macular Degeneration

Diagnostic yield of panel-based genetic testing in syndromic inherited retinal disease

Clinical utility of genetic testing in 201 preschool children with inherited eye disorders

An Improved Phenotype-Driven Tool for Rare Mendelian Variant Prioritization: Benchmarking Exomiser on Real Patient Whole-Exome Data

Correction: Clinical utility of genetic testing in 201 preschool children with inherited eye disorders

Natural History and Retinal Structure in Patients with Usher Syndrome Type 1 Owing to MYO7A Mutation

The value of two-field pattern electroretinogram in routine clinical electrophysiologic practice

Craniofacial linear scleroderma associated with retinal telangiectasia and exudative retinal detachment

Correlation between macular morphology and sensitivity in patients with retinitis pigmentosa and hyperautofluorescent ring

North Carolina Macular Dystrophy: Phenotypic Variability and Computational Analysis of Disease-Associated Noncoding Variants

A detailed clinical and molecular survey of subjects with nonsyndromic USH2A retinopathy reveals an allelic hierarchy of disease-causing variants

Effect of acute hypercapnia during 10-day hypoxic bed rest on posterior eye structures

Multidisciplinary team directed analysis of whole genome sequencing reveals pathogenic non-coding variants in molecularly undiagnosed inherited retinal dystrophies

Clinical and Genetic Findings in CTNNA1-Associated Macular Pattern Dystrophy

The effect of the common c.2299delG mutation in USH2A on RNA splicing

Biallelic Variants in TTLL5, Encoding a Tubulin Glutamylase, Cause Retinal Dystrophy

Establishing Genotype-phenotype Correlation in USH2A-related Disorders to Personalize Audiological Surveillance and Rehabilitation

EyeG2P: an automated variant filtering approach improves efficiency of diagnostic genomic testing for inherited ophthalmic disorders

Clinical heterogeneity in a family with mutations in USH2A

Atypical presentation of CRB 1 retinopathy

Persistent Placoid Maculopathy Complicated by Cerebral Vasculitis

Screening for duplications, deletions and a common intronic mutation detects 35% of second mutations in patients with USH2A monoallelic mutations on Sanger sequencing

Comparison of fundus autofluorescence with photopic and scotopic fine matrix mapping in patients with retinitis pigmentosa: 4- to 8-year follow-up

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