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GUCY2D-Associated Leber Congenital Amaurosis: A Retrospective Natural History Study in Preparation for Trials of Novel Therapies

American journal of ophthalmology, 2020-02, Vol.210, p.59-70

2020

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Genetic Basis of Inherited Retinal Disease in a Molecularly Characterized Cohort of More Than 3000 Families from the United Kingdom

Ophthalmology (Rochester, Minn.), 2020-10, Vol.127 (10), p.1384-1394

2020

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Complex structural variants in Mendelian disorders: identification and breakpoint resolution using short- and long-read genome sequencing

Genome medicine, 2018-12, Vol.10 (1), p.95-95, Article 95

2018

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The X-linked retinopathies: Physiological insights, pathogenic mechanisms, phenotypic features and novel therapies

Progress in retinal and eye research, 2021-05, Vol.82, p.100898-100898, Article 100898

2021

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Discrepancies in central foveal intensity with different autofluorescence modalities in CNGB3‐associated achromatopsia and correlation with integrity of ellipsoid zone on optical coherence tomography

Acta ophthalmologica (Oxford, England), 2024-01, Vol.102 (S279), p.n/a

2024

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Clinical and molecular findings in a cohort of 152 Brazilian severe early onset inherited retinal dystrophy patients

American journal of medical genetics. Part C, Seminars in medical genetics, 2020-09, Vol.184 (3), p.728-752

2020

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Clinical utility gene card for: inherited optic neuropathies including next-generation sequencing-based approaches

European journal of human genetics : EJHG, 2019-03, Vol.27 (3), p.494-502

2019

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Phenogenon: Gene to phenotype associations for rare genetic diseases

PloS one, 2020-04, Vol.15 (4), p.e0230587-e0230587

2020

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Structural Variants Create New Topological-Associated Domains and Ectopic Retinal Enhancer-Gene Contact in Dominant Retinitis Pigmentosa

American journal of human genetics, 2020-11, Vol.107 (5), p.802-814

2020

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Hyperreflectivity of the outer portion of the outer nuclear layer seen on optical coherence tomography in some cases of NR2E3‐associated retinopathy

Acta ophthalmologica (Oxford, England), 2024-01, Vol.102 (S279), p.n/a

2024

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SSBP1 mutations in dominant optic atrophy with variable retinal degeneration

Annals of neurology, 2019-09, Vol.86 (3), p.368-383

2019

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Introduction to the special issue on Ophthalmic Genetics: Vision in 2020

American journal of medical genetics. Part C, Seminars in medical genetics, 2020-09, Vol.184 (3), p.535-537

2020

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Primary congenital glaucoma including next-generation sequencing-based approaches: clinical utility gene card

European journal of human genetics : EJHG, 2018-11, Vol.26 (11), p.1713-1718

2018

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Assessment of the incorporation of CNV surveillance into gene panel next-generation sequencing testing for inherited retinal diseases

Journal of medical genetics, 2018-02, Vol.55 (2), p.114

2018

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Ocular genetics in the genomics age

American journal of medical genetics. Part C, Seminars in medical genetics, 2020-09, Vol.184 (3), p.860-868

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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A clinical and molecular characterisation of CRB1-associated maculopathy

European journal of human genetics : EJHG, 2018-05, Vol.26 (5), p.687-694

2018

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Duplication events downstream of IRX1 cause North Carolina macular dystrophy at the MCDR3 locus

Scientific reports, 2017-08, Vol.7 (1), p.7512-9, Article 7512

2017

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In silico interpretation of variants identifies novel causes of inherited eye disease in the 100 000 genomes project

Acta ophthalmologica (Oxford, England), 2022-12, Vol.100 (S275), p.n/a

Arno, Gavin

2022

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In silico interpretation of variants identifies novel causes of inherited eye disease in the 100000 genomes project

Acta ophthalmologica (Oxford, England), 2022-12, Vol.100 (S275)

Gavin, Arno

2022

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Practical guide to genetic screening for inherited eye diseases

Therapeutic Advances in Ophthalmology, 2020-01, Vol.12, p.2515841420954592-2515841420954592

2020

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Investigating Splice Defects in USH2A Using Targeted Long-Read Sequencing

Cells (Basel, Switzerland), 2024-08, Vol.13 (15), p.1261

2024

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Mutations in CACNA2D4 Cause Distinctive Retinal Dysfunction in Humans

Ophthalmology (Rochester, Minn.), 2016-03, Vol.123 (3), p.668-671.e2

2016

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GUCY2D-Associated Leber Congenital Amaurosis: A Retrospective Natural History Study in Preparation for Trials of Novel Therapies

Genetic Basis of Inherited Retinal Disease in a Molecularly Characterized Cohort of More Than 3000 Families from the United Kingdom

Complex structural variants in Mendelian disorders: identification and breakpoint resolution using short- and long-read genome sequencing

The X-linked retinopathies: Physiological insights, pathogenic mechanisms, phenotypic features and novel therapies

Discrepancies in central foveal intensity with different autofluorescence modalities in CNGB3‐associated achromatopsia and correlation with integrity of ellipsoid zone on optical coherence tomography

Clinical and molecular findings in a cohort of 152 Brazilian severe early onset inherited retinal dystrophy patients

Clinical utility gene card for: inherited optic neuropathies including next-generation sequencing-based approaches

Phenogenon: Gene to phenotype associations for rare genetic diseases

Structural Variants Create New Topological-Associated Domains and Ectopic Retinal Enhancer-Gene Contact in Dominant Retinitis Pigmentosa

ABCA4-associated disease as a model for missing heritability in autosomal recessive disorders: novel noncoding splice, cis-regulatory, structural, and recurrent hypomorphic variants

Hyperreflectivity of the outer portion of the outer nuclear layer seen on optical coherence tomography in some cases of NR2E3‐associated retinopathy

SSBP1 mutations in dominant optic atrophy with variable retinal degeneration

Introduction to the special issue on Ophthalmic Genetics: Vision in 2020

Primary congenital glaucoma including next-generation sequencing-based approaches: clinical utility gene card

Assessment of the incorporation of CNV surveillance into gene panel next-generation sequencing testing for inherited retinal diseases

Ocular genetics in the genomics age

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

A clinical and molecular characterisation of CRB1-associated maculopathy

Duplication events downstream of IRX1 cause North Carolina macular dystrophy at the MCDR3 locus

In silico interpretation of variants identifies novel causes of inherited eye disease in the 100 000 genomes project

In silico interpretation of variants identifies novel causes of inherited eye disease in the 100000 genomes project

Practical guide to genetic screening for inherited eye diseases

Can artificial intelligence accelerate the diagnosis of inherited retinal diseases? Protocol for a data-only retrospective cohort study (Eye2Gene)

Investigating Splice Defects in USH2A Using Targeted Long-Read Sequencing

Mutations in CACNA2D4 Cause Distinctive Retinal Dysfunction in Humans

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