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Nonsense-mediated mRNA decay efficiency varies in choroideremia providing a target to boost small molecule therapeutics

Human molecular genetics, 2019-06, Vol.28 (11), p.1865-1871

2019

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Functional rescue of REP1 following treatment with PTC124 and novel derivative PTC-414 in human choroideremia fibroblasts and the nonsense-mediated zebrafish model

Human molecular genetics, 2016-08, Vol.25 (16), p.3416-3431

2016

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Clinical and preclinical therapeutic outcome metrics for USH2A-related disease

Human molecular genetics, 2020-07, Vol.29 (11), p.1882-1899

2020

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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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A large animal model of RDH5-associated retinopathy recapitulates important features of the human phenotype

Human molecular genetics, 2022-04, Vol.31 (8), p.1263-1277

2022

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Neuropathy target esterase activity defines phenotypes among PNPLA6 disorders

Brain (London, England : 1878), 2024-06, Vol.147 (6), p.2085-2097

2024

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Molecular modeling indicates distinct classes of missense variants with mild and severe XLRS phenotypes

Human molecular genetics, 2013-12, Vol.22 (23), p.4756-4767

2013

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Mutations in HPRP3, a third member of pre-mRNA splicing factor genes, implicated in autosomal dominant retinitis pigmentosa

Human molecular genetics, 2002, Vol.11 (1), p.87-92

2002

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Recombination hotspots and block structure of linkage disequilibrium in the human genome exemplified by detailed analysis of PGM1 on 1p31

Human molecular genetics, 2004-12, Vol.13 (24), p.3089-3102

2004

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Variations in Apolipoprotein E Frequency With Age in a Pooled Analysis of a Large Group of Older People

American journal of epidemiology, 2011-06, Vol.173 (12), p.1357-1364

2011

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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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Mutations in HPRP3, a third member ofpre-mRNA splicing factor genes, implicated in autosomal dominant retinitis pigmentosa

Human molecular genetics, 2002-01, Vol.11 (1), p.87-92

Chakarova, C. F.

2002

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Endovascular Advances for Brain Arteriovenous Malformations

Neurosurgery, 2014-02, Vol.74 (suppl_1), p.S74-S82

2014

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Consensus Recommendations on Initiating Prescription Therapies for Opioid‐Induced Constipation

Pain medicine (Malden, Mass.), 2015-12, Vol.16 (12), p.2324-2337

2015

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The pattern of excess cancer in dialysis and transplantation

Nephrology, dialysis, transplantation, 2009-10, Vol.24 (10), p.3225-3231

2009

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Letter: An International Investigation Into the COVID-19 Pandemic and Workforce Depletion in Highly Specialized Neurointerventional Units – Insights From Stroke Thrombectomy and Aneurysm Registry and Endovascular Neurosurgery Research Group

Neurosurgery, 2020-12, Vol.87 (6), p.E697-E699

2020

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The Use of Antiplatelet Agents and Heparin in the 24-Hour Postintravenous Alteplase Window for Neurointervention

Neurosurgery, 2021-04, Vol.88 (4), p.746-750

2021

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Endovascular Advances for Brain Arteriovenous Malformations

Neurosurgery, 2014-02, Vol.74 (Supplement 1), p.S74-S82

2014

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Monoallelic and biallelic mutations in RELN underlie a graded series of neurodevelopmental disorders

Brain (London, England : 1878), 2022-09, Vol.145 (9), p.3274-3287

2022

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Technical Considerations in the Endovascular Management of Aneurysms of the Posterior Inferior Cerebellar Artery

Neurosurgery, 2012-12, Vol.71 (6), p.204-217

2012

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Cognitive and Disease-Modifying Effects of 11β-Hydroxysteroid Dehydrogenase Type 1 Inhibition in Male Tg2576 Mice, a Model of Alzheimer's Disease

Endocrinology (Philadelphia), 2015-12, Vol.156 (12), p.4592-4603

2015

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The Neuraminidase Inhibitor Oseltamivir Is Effective Against A/Anhui/1/2013 (H7N9) Influenza Virus in a Mouse Model of Acute Respiratory Distress Syndrome

The Journal of infectious diseases, 2014-05, Vol.209 (9), p.1343-1353

2014

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Nucleocapsid Antigenemia Is a Marker of Acute SARS-CoV-2 Infection

The Journal of infectious diseases, 2022-11, Vol.226 (9), p.1577-1587

2022

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Legacy benefits of blood pressure treatment on cardiovascular events are primarily mediated by improved blood pressure variability: the ASCOT trial

European heart journal, 2024-04, Vol.45 (13), p.1159-1169

2024

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Nonsense-mediated mRNA decay efficiency varies in choroideremia providing a target to boost small molecule therapeutics

Functional rescue of REP1 following treatment with PTC124 and novel derivative PTC-414 in human choroideremia fibroblasts and the nonsense-mediated zebrafish model

Clinical and preclinical therapeutic outcome metrics for USH2A-related disease

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

A large animal model of RDH5-associated retinopathy recapitulates important features of the human phenotype

Neuropathy target esterase activity defines phenotypes among PNPLA6 disorders

Molecular modeling indicates distinct classes of missense variants with mild and severe XLRS phenotypes

Mutations in HPRP3, a third member of pre-mRNA splicing factor genes, implicated in autosomal dominant retinitis pigmentosa

Recombination hotspots and block structure of linkage disequilibrium in the human genome exemplified by detailed analysis of PGM1 on 1p31

Genome-wide association study of age-related macular degeneration identifies associated variants in the TNXB―FKBPL―NOTCH4 region of chromosome 6p21.3

Variations in Apolipoprotein E Frequency With Age in a Pooled Analysis of a Large Group of Older People

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

Mutations in HPRP3, a third member ofpre-mRNA splicing factor genes, implicated in autosomal dominant retinitis pigmentosa

Endovascular Advances for Brain Arteriovenous Malformations

Consensus Recommendations on Initiating Prescription Therapies for Opioid‐Induced Constipation

The pattern of excess cancer in dialysis and transplantation

Letter: An International Investigation Into the COVID-19 Pandemic and Workforce Depletion in Highly Specialized Neurointerventional Units – Insights From Stroke Thrombectomy and Aneurysm Registry and Endovascular Neurosurgery Research Group

The Use of Antiplatelet Agents and Heparin in the 24-Hour Postintravenous Alteplase Window for Neurointervention

Endovascular Advances for Brain Arteriovenous Malformations

Monoallelic and biallelic mutations in RELN underlie a graded series of neurodevelopmental disorders

Technical Considerations in the Endovascular Management of Aneurysms of the Posterior Inferior Cerebellar Artery

Cognitive and Disease-Modifying Effects of 11β-Hydroxysteroid Dehydrogenase Type 1 Inhibition in Male Tg2576 Mice, a Model of Alzheimer's Disease

The Neuraminidase Inhibitor Oseltamivir Is Effective Against A/Anhui/1/2013 (H7N9) Influenza Virus in a Mouse Model of Acute Respiratory Distress Syndrome

Nucleocapsid Antigenemia Is a Marker of Acute SARS-CoV-2 Infection

Legacy benefits of blood pressure treatment on cardiovascular events are primarily mediated by improved blood pressure variability: the ASCOT trial

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