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SeqCNV: a novel method for identification of copy number variations in targeted next-generation sequencing data

BMC bioinformatics, 2017-03, Vol.18 (1), p.147-147, Article 147

2017

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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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Inherited Retinal Degenerations: Current Landscape and Knowledge Gaps

Translational vision science & technology, 2018-07, Vol.7 (4), p.6-6

2018

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Allelic heterogeneity and genetic modifier loci contribute to clinical variation in males with X-linked retinitis pigmentosa due to RPGR mutations

PloS one, 2011-08, Vol.6 (8), p.e23021-e23021

2011

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Exome-Based Mapping and Variant Prioritization for Inherited Mendelian Disorders

American journal of human genetics, 2014-03, Vol.94 (3), p.373-384

2014

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A Splice-Site Mutation in a Retina-Specific Exon of BBS8 Causes Nonsyndromic Retinitis Pigmentosa

American journal of human genetics, 2010-05, Vol.86 (5), p.805-812

2010

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A Novel Dominant Mutation in SAG, the Arrestin-1 Gene, Is a Common Cause of Retinitis Pigmentosa in Hispanic Families in the Southwestern United States

Investigative ophthalmology & visual science, 2017-05, Vol.58 (5), p.2774-2784

2017

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A dominant mutation in hexokinase 1 (HK1) causes retinitis pigmentosa

Investigative ophthalmology & visual science, 2014-09, Vol.55 (11), p.7147-7158

2014

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High-throughput retina-array for screening 93 genes involved in inherited retinal dystrophy

Investigative ophthalmology & visual science, 2011-11, Vol.52 (12), p.9053-9060

2011

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Genes and Mutations Causing Autosomal Dominant Retinitis Pigmentosa

Cold Spring Harbor perspectives in medicine, 2015-10, Vol.5 (10), p.a017129

2015

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Essential and Synergistic Roles of RP1 and RP1L1 in Rod Photoreceptor Axoneme and Retinitis Pigmentosa

The Journal of neuroscience, 2009-08, Vol.29 (31), p.9748-9760

2009

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Understanding the genetic architecture of human retinal degenerations

Proceedings of the National Academy of Sciences - PNAS, 2020-02, Vol.117 (8), p.3904-3906

2020

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Mutations in Linkage Disequilibrium With Putative Disease-Causing Mutations

Investigative ophthalmology & visual science, 2016-09, Vol.57 (11), p.4814-4814

Daiger, Stephen P

2016

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IMP Dehydrogenase Type 1 Associates with Polyribosomes Translating Rhodopsin mRNA

The Journal of biological chemistry, 2008-12, Vol.283 (52), p.36354-36360

2008

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Molecular findings from 537 individuals with inherited retinal disease

Journal of medical genetics, 2016-11, Vol.53 (11), p.761-767

2016

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Perspective on genes and mutations causing retinitis pigmentosa

Archives of ophthalmology (1960), 2007-02, Vol.125 (2), p.151

2007

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Prevalence of mutations causing retinitis pigmentosa and other inherited retinopathies

Human mutation, 2001, Vol.17 (1), p.42-51

2001

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The Role of X-Chromosome Inactivation in Retinal Development and Disease

Advances in experimental medicine and biology, 2016-01, Vol.854, p.325-331

2016

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History of Finding Genes and Mutations Causing Inherited Retinal Diseases

Cold Spring Harbor perspectives in medicine, 2024-09, p.a041287

2024

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Time Course of Disease Progression of PRPF31-mediated Retinitis Pigmentosa

American journal of ophthalmology, 2019-04, Vol.200, p.76-84

2019

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Mutations in the X-linked retinitis pigmentosa genes RPGR and RP2 found in 8.5% of families with a provisional diagnosis of autosomal dominant retinitis pigmentosa

Investigative ophthalmology & visual science, 2013-02, Vol.54 (2), p.1411-1416

2013

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Mutations in a new photoreceptor-pineal gene on 17p cause Leber congenital amaurosis

Nature genetics, 2000-01, Vol.24 (1), p.79-83

2000

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Mutations in a BTB-Kelch Protein, KLHL7, Cause Autosomal-Dominant Retinitis Pigmentosa

American journal of human genetics, 2009-06, Vol.84 (6), p.792-800

2009

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Progressive Photoreceptor Degeneration, Outer Segment Dysplasia, and Rhodopsin Mislocalization in Mice with Targeted Disruption of the Retinitis Pigmentosa-1 (Rp1) Gene

Proceedings of the National Academy of Sciences - PNAS, 2002-04, Vol.99 (8), p.5698-5703

2002

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SeqCNV: a novel method for identification of copy number variations in targeted next-generation sequencing data

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

Next generation sequencing-based molecular diagnosis of retinitis pigmentosa: identification of a novel genotype-phenotype correlation and clinical refinements

Inherited Retinal Degenerations: Current Landscape and Knowledge Gaps

Allelic heterogeneity and genetic modifier loci contribute to clinical variation in males with X-linked retinitis pigmentosa due to RPGR mutations

Exome-Based Mapping and Variant Prioritization for Inherited Mendelian Disorders

A Splice-Site Mutation in a Retina-Specific Exon of BBS8 Causes Nonsyndromic Retinitis Pigmentosa

A Novel Dominant Mutation in SAG, the Arrestin-1 Gene, Is a Common Cause of Retinitis Pigmentosa in Hispanic Families in the Southwestern United States

A dominant mutation in hexokinase 1 (HK1) causes retinitis pigmentosa

High-throughput retina-array for screening 93 genes involved in inherited retinal dystrophy

Genes and Mutations Causing Autosomal Dominant Retinitis Pigmentosa

Essential and Synergistic Roles of RP1 and RP1L1 in Rod Photoreceptor Axoneme and Retinitis Pigmentosa

Understanding the genetic architecture of human retinal degenerations

Mutations in Linkage Disequilibrium With Putative Disease-Causing Mutations

IMP Dehydrogenase Type 1 Associates with Polyribosomes Translating Rhodopsin mRNA

Molecular findings from 537 individuals with inherited retinal disease

Perspective on genes and mutations causing retinitis pigmentosa

Prevalence of mutations causing retinitis pigmentosa and other inherited retinopathies

The Role of X-Chromosome Inactivation in Retinal Development and Disease

History of Finding Genes and Mutations Causing Inherited Retinal Diseases

Time Course of Disease Progression of PRPF31-mediated Retinitis Pigmentosa

Mutations in the X-linked retinitis pigmentosa genes RPGR and RP2 found in 8.5% of families with a provisional diagnosis of autosomal dominant retinitis pigmentosa

Mutations in a new photoreceptor-pineal gene on 17p cause Leber congenital amaurosis

Mutations in a BTB-Kelch Protein, KLHL7, Cause Autosomal-Dominant Retinitis Pigmentosa

Progressive Photoreceptor Degeneration, Outer Segment Dysplasia, and Rhodopsin Mislocalization in Mice with Targeted Disruption of the Retinitis Pigmentosa-1 (Rp1) Gene

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