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Identification and Correction of Mechanisms Underlying Inherited Blindness in Human iPSC-Derived Optic Cups

Cell stem cell, 2016-06, Vol.18 (6), p.769-781

2016

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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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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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Optogenetic approaches to therapy for inherited retinal degenerations

The Journal of physiology, 2022-11, Vol.600 (21), p.4623-4632

2022

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Clinical and Molecular Characteristics of Childhood-Onset Stargardt Disease

Ophthalmology (Rochester, Minn.), 2015-02, Vol.122 (2), p.326-334

2015

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Clinical and Genetic Features of Choroideremia in Childhood

Ophthalmology (Rochester, Minn.), 2016-10, Vol.123 (10), p.2158-2165

2016

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Early Patterns of Macular Degeneration in ABCA4-Associated Retinopathy

Ophthalmology (Rochester, Minn.), 2018-05, Vol.125 (5), p.735-746

2018

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Increased circulating levels of Factor H-Related Protein 4 are strongly associated with age-related macular degeneration

Nature communications, 2020-02, Vol.11 (1), p.778-778, Article 778

2020

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Effect of Gene Therapy on Visual Function in Leber's Congenital Amaurosis

The New England journal of medicine, 2008-05, Vol.358 (21), p.2231-2239

2008

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Detailed Phenotypic and Genotypic Characterization of Bietti Crystalline Dystrophy

Ophthalmology (Rochester, Minn.), 2014-06, Vol.121 (6), p.1174-1184

2014

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Recessive Mutations in KCNJ13, Encoding an Inwardly Rectifying Potassium Channel Subunit, Cause Leber Congenital Amaurosis

American journal of human genetics, 2011-07, Vol.89 (1), p.183-190

2011

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Mutations in PLK4, encoding a master regulator of centriole biogenesis, cause microcephaly, growth failure and retinopathy

Nature genetics, 2014-12, Vol.46 (12), p.1283-1292

2014

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Heterozygous Loss-of-Function Mutations in YAP1 Cause Both Isolated and Syndromic Optic Fissure Closure Defects

American journal of human genetics, 2014-02, Vol.94 (2), p.295-302

2014

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Mutations in REEP6 Cause Autosomal-Recessive Retinitis Pigmentosa

American journal of human genetics, 2016-12, Vol.99 (6), p.1305-1315

2016

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A longitudinal study of Stargardt disease: quantitative assessment of fundus autofluorescence, progression, and genotype correlations

Investigative ophthalmology & visual science, 2013-12, Vol.54 (13), p.8181-8190

2013

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Characterization of Retinal Structure in ATF6-Associated Achromatopsia

Investigative ophthalmology & visual science, 2019-06, Vol.60 (7), p.2631-2640

2019

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A Longitudinal Study of Stargardt Disease: Clinical and Electrophysiologic Assessment, Progression, and Genotype Correlations

American journal of ophthalmology, 2013-06, Vol.155 (6), p.1075-1088.e13

2013

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The Effect on Retinal Structure and Function of 15 Specific ABCA4 Mutations: A Detailed Examination of 82 Hemizygous Patients

Investigative ophthalmology & visual science, 2016-11, Vol.57 (14), p.5963-5973

2016

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Detailed Clinical Phenotype and Molecular Genetic Findings in CLN3-Associated Isolated Retinal Degeneration

JAMA ophthalmology, 2017-07, Vol.135 (7), p.749

2017

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Intraoperative Fluorescein Angiography–Guided Treatment in Children with Early Coats' Disease

Ophthalmology (Rochester, Minn.), 2015-06, Vol.122 (6), p.1195-1202

2015

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Mutations in CPAMD8 Cause a Unique Form of Autosomal-Recessive Anterior Segment Dysgenesis

American journal of human genetics, 2016-12, Vol.99 (6), p.1338-1352

2016

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Mutations in TUBGCP4 Alter Microtubule Organization via the γ-Tubulin Ring Complex in Autosomal-Recessive Microcephaly with Chorioretinopathy

American journal of human genetics, 2015-04, Vol.96 (4), p.666-674

2015

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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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Recessive Mutations of the Gene TRPM1 Abrogate ON Bipolar Cell Function and Cause Complete Congenital Stationary Night Blindness in Humans

American journal of human genetics, 2009-11, Vol.85 (5), p.711-719

2009

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Identification and Correction of Mechanisms Underlying Inherited Blindness in Human iPSC-Derived Optic Cups

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

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

Optogenetic approaches to therapy for inherited retinal degenerations

Clinical and Molecular Characteristics of Childhood-Onset Stargardt Disease

Clinical and Genetic Features of Choroideremia in Childhood

Early Patterns of Macular Degeneration in ABCA4-Associated Retinopathy

Increased circulating levels of Factor H-Related Protein 4 are strongly associated with age-related macular degeneration

Mutations in the unfolded protein response regulator ATF6 cause the cone dysfunction disorder achromatopsia

Effect of Gene Therapy on Visual Function in Leber's Congenital Amaurosis

Detailed Phenotypic and Genotypic Characterization of Bietti Crystalline Dystrophy

Recessive Mutations in KCNJ13, Encoding an Inwardly Rectifying Potassium Channel Subunit, Cause Leber Congenital Amaurosis

Mutations in PLK4, encoding a master regulator of centriole biogenesis, cause microcephaly, growth failure and retinopathy

Heterozygous Loss-of-Function Mutations in YAP1 Cause Both Isolated and Syndromic Optic Fissure Closure Defects

Mutations in REEP6 Cause Autosomal-Recessive Retinitis Pigmentosa

A longitudinal study of Stargardt disease: quantitative assessment of fundus autofluorescence, progression, and genotype correlations

Characterization of Retinal Structure in ATF6-Associated Achromatopsia

A Longitudinal Study of Stargardt Disease: Clinical and Electrophysiologic Assessment, Progression, and Genotype Correlations

The Effect on Retinal Structure and Function of 15 Specific ABCA4 Mutations: A Detailed Examination of 82 Hemizygous Patients

Detailed Clinical Phenotype and Molecular Genetic Findings in CLN3-Associated Isolated Retinal Degeneration

Intraoperative Fluorescein Angiography–Guided Treatment in Children with Early Coats' Disease

Mutations in CPAMD8 Cause a Unique Form of Autosomal-Recessive Anterior Segment Dysgenesis

Mutations in TUBGCP4 Alter Microtubule Organization via the γ-Tubulin Ring Complex in Autosomal-Recessive Microcephaly with Chorioretinopathy

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

Recessive Mutations of the Gene TRPM1 Abrogate ON Bipolar Cell Function and Cause Complete Congenital Stationary Night Blindness in Humans

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