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A systems biology approach towards understanding and treating non-neovascular age-related macular degeneration

Nature communications, 2019-07, Vol.10 (1), p.3347-11, Article 3347

2019

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De Novo Occurrence of a Variant in ARL3 and Apparent Autosomal Dominant Transmission of Retinitis Pigmentosa

PloS one, 2016-03, Vol.11 (3), p.e0150944-e0150944

2016

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Interpretation of genetic association studies: markers with replicated highly significant odds ratios may be poor classifiers

PLoS genetics, 2009-02, Vol.5 (2), p.e1000337-e1000337

2009

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MANAGEMENT OF RETINAL HEMANGIOBLASTOMA IN VON HIPPEL-LINDAU DISEASE

Retina (Philadelphia, Pa.), 2019-12, Vol.39 (12), p.2254-2263

2019

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Analysis of the ABCA4 genomic locus in Stargardt disease

Human molecular genetics, 2014-12, Vol.23 (25), p.6797-6806

2014

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Membrane Attack Complex Mediates Retinal Pigment Epithelium Cell Death in Stargardt Macular Degeneration

Cells (Basel, Switzerland), 2022-11, Vol.11 (21), p.3462

2022

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Genetic insights into age-related macular degeneration: Controversies addressing risk, causality, and therapeutics

Molecular aspects of medicine, 2012-08, Vol.33 (4), p.467-486

Gorin, Michael B.

2012

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Sustained elevated intraocular pressures after intravitreal injection of bevacizumab, ranibizumab, and pegaptanib

Retina (Philadelphia, Pa.), 2011-06, Vol.31 (6), p.1028-1035

2011

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When Genetics Can Point Researchers and Clinicians in New Directions

JAMA ophthalmology, 2019-08, Vol.137 (8), p.876

Gorin, Michael B.

2019

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C2 and CFB genes in age-related maculopathy and joint action with CFH and LOC387715 genes

PloS one, 2008-05, Vol.3 (5), p.e2199-e2199

2008

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Peripheral Sensory Neurons Expressing Melanopsin Respond to Light

Frontiers in neural circuits, 2016-08, Vol.10 (AUG), p.60-60

2016

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Complement factor H genetic variant and age-related macular degeneration: effect size, modifiers and relationship to disease subtype

International journal of epidemiology, 2012-02, Vol.41 (1), p.250-262

2012

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An Alternative and Validated Injection Method for Accessing the Subretinal Space via a Transcleral Posterior Approach

Journal of visualized experiments, 2016-12 (118)

2016

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Using Molecular Diagnostics for Inherited Retinal Dystrophies: The 6 “I”s That Are Necessary to Diagnose 2 Eyes Genetically

Ophthalmology science (Online), 2021-03, Vol.1 (1), p.100018-100018, Article 100018

2021

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Assessing Deep Retinal Capillary Ischemia in Paracentral Acute Middle Maculopathy by Optical Coherence Tomography Angiography

American journal of ophthalmology, 2016-02, Vol.162, p.121-132.e1

2016

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Evaluation of the Choroid in Eyes With Retinitis Pigmentosa and Cystoid Macular Edema

Investigative ophthalmology & visual science, 2019-12, Vol.60 (15), p.5000-5006

2019

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Dysflective cones: Visual function and cone reflectivity in long-term follow-up of acute bilateral foveolitis

American journal of ophthalmology case reports, 2017-09, Vol.7 (C), p.14-19

2017

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Predictive genetics for AMD: Hype and hopes for genetics-based strategies for treatment and prevention

Experimental eye research, 2020-02, Vol.191, p.107894-107894, Article 107894

2020

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Molecular diagnosis of putative Stargardt Disease probands by exome sequencing

BMC medical genetics, 2012-08, Vol.13 (1), p.67-67, Article 67

2012

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Novel mutation in SLC4A7 gene causing autosomal recessive progressive rod-cone dystrophy

Ophthalmic genetics, 2020-07, Vol.41 (4), p.386-389

2020

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Resolving the dark matter of ABCA4 for 1054 Stargardt disease probands through integrated genomics and transcriptomics

Genetics in medicine, 2020-07, Vol.22 (7), p.1235-1246

2020

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Susceptibility Genes for Age-Related Maculopathy on Chromosome 10q26

American journal of human genetics, 2005-09, Vol.77 (3), p.389-407

2005

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Deep intronic mutation in OFD1, identified by targeted genomic next-generation sequencing, causes a severe form of X-linked retinitis pigmentosa (RP23)

Human molecular genetics, 2012-08, Vol.21 (16), p.3647-3654

2012

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Comparative analysis of in-silico tools in identifying pathogenic variants in dominant inherited retinal diseases

Human molecular genetics, 2024-05, Vol.33 (11), p.945-957

2024

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Consensus Guidelines for Ocular Surveillance of von Hippel-Lindau Disease

Ophthalmology (Rochester, Minn.), 2024-05, Vol.131 (5), p.622-633

2024

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A systems biology approach towards understanding and treating non-neovascular age-related macular degeneration

De Novo Occurrence of a Variant in ARL3 and Apparent Autosomal Dominant Transmission of Retinitis Pigmentosa

Interpretation of genetic association studies: markers with replicated highly significant odds ratios may be poor classifiers

MANAGEMENT OF RETINAL HEMANGIOBLASTOMA IN VON HIPPEL-LINDAU DISEASE

Analysis of the ABCA4 genomic locus in Stargardt disease

Membrane Attack Complex Mediates Retinal Pigment Epithelium Cell Death in Stargardt Macular Degeneration

Genetic insights into age-related macular degeneration: Controversies addressing risk, causality, and therapeutics

Sustained elevated intraocular pressures after intravitreal injection of bevacizumab, ranibizumab, and pegaptanib

When Genetics Can Point Researchers and Clinicians in New Directions

C2 and CFB genes in age-related maculopathy and joint action with CFH and LOC387715 genes

Peripheral Sensory Neurons Expressing Melanopsin Respond to Light

Complement factor H genetic variant and age-related macular degeneration: effect size, modifiers and relationship to disease subtype

An Alternative and Validated Injection Method for Accessing the Subretinal Space via a Transcleral Posterior Approach

Using Molecular Diagnostics for Inherited Retinal Dystrophies: The 6 “I”s That Are Necessary to Diagnose 2 Eyes Genetically

Assessing Deep Retinal Capillary Ischemia in Paracentral Acute Middle Maculopathy by Optical Coherence Tomography Angiography

Evaluation of the Choroid in Eyes With Retinitis Pigmentosa and Cystoid Macular Edema

Dysflective cones: Visual function and cone reflectivity in long-term follow-up of acute bilateral foveolitis

Predictive genetics for AMD: Hype and hopes for genetics-based strategies for treatment and prevention

Molecular diagnosis of putative Stargardt Disease probands by exome sequencing

Novel mutation in SLC4A7 gene causing autosomal recessive progressive rod-cone dystrophy

Resolving the dark matter of ABCA4 for 1054 Stargardt disease probands through integrated genomics and transcriptomics

Susceptibility Genes for Age-Related Maculopathy on Chromosome 10q26

Deep intronic mutation in OFD1, identified by targeted genomic next-generation sequencing, causes a severe form of X-linked retinitis pigmentosa (RP23)

Comparative analysis of in-silico tools in identifying pathogenic variants in dominant inherited retinal diseases

Consensus Guidelines for Ocular Surveillance of von Hippel-Lindau Disease

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