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Author Details

Mark E Pennesi
Casey Eye Institute at Oregon Health & Science University (OHSU)
1998
153
37
PMIDPaper TitleJournal TitlePublished Year
37592806Expanding the phenotypic and genotypic spectrum of patients with <i>HGSNAT</i>-related retinopathy.Ophthalmic Genet2024
36067420A DOUBLE HYPERAUTOFLUORESCENT RING IN A 33-YEAR-OLD-FEMALE PATIENT.Retin Cases Brief Rep2023
37852740<i>KCNV2</i>-associated retinopathy: genotype-phenotype correlations - <i>KCNV2</i> study group report 3.Br J Ophthalmol2023
37644104A G1528C Hadha knock-in mouse model recapitulates aspects of human clinical phenotypes for long-chain 3-hydroxyacyl-CoA dehydrogenase deficiency.Commun Biol2023
37814062Subretinal timrepigene emparvovec in adult men with choroideremia: a randomized phase 3 trial.Nat Med2023
35856163A possible ocular biomarker for response to hyperornithinemia in gyrate atrophy: the effect of pyridoxine, lysine, and arginine-restricted diet in a patient with advanced disease.Ophthalmic Genet2023
37058101Improved Rod Sensitivity as Assessed by Two-Color Dark-Adapted Perimetry in Patients With RPE65-Related Retinopathy Treated With Voretigene Neparvovec-rzyl.Transl Vis Sci Technol2023
37096132Vitelliform maculopathy in MELAS syndrome.Am J Ophthalmol Case Rep2023
37294701Overcoming the Challenges to Clinical Development of X-Linked Retinitis Pigmentosa Therapies: Proceedings of an Expert Panel.Transl Vis Sci Technol2023
36789417Systematic assessment of the contribution of structural variants to inherited retinal diseases.bioRxiv2023
36811936Systematic assessment of the contribution of structural variants to inherited retinal diseases.Hum Mol Genet2023
36833373Novel Pathogenic Mutations Identified from Whole-Genome Sequencing in Unsolved Cases of Patients Affected with Inherited Retinal Diseases.Genes (Basel)2023
36764426Static Perimetry in the Rate of Progression in USH2A-related Retinal Degeneration (RUSH2A) Study: Assessment Through 2 Years.Am J Ophthalmol2023
34690342Inherited Retinal Disease Panels-Caveat Emptor-Truly Know Your Inherited Retinal Disease Panel.Retina2022
35781068Intravitreal Delivery of rAAV2tYF-CB-hRS1 Vector for Gene Augmentation Therapy in Patients with X-Linked Retinoschisis: 1-Year Clinical Results.Ophthalmol Retina2022
36547964Two-Color Dark-Adapted Perimetry Implemented With a Commercially Available Perimeter to Characterize Rod-Pathway Sensitivity.Ophthalmic Surg Lasers Imaging Retina2022
36362148Signal Peptide Variants in Inherited Retinal Diseases: A Multi-Institutional Case Series.Int J Mol Sci2022
36034763Iatrogenic choroidal neovascularization associated with subretinal gene therapy surgery.Am J Ophthalmol Case Rep2022
36301530Foveal Cone Structure in Patients With Blue Cone Monochromacy.Invest Ophthalmol Vis Sci2022
36007554Baseline Microperimetry and OCT in the RUSH2A Study: Structure-Function Association and Correlation With Disease Severity.Am J Ophthalmol2022
35248547Three-Year Safety Results of SAR422459 (EIAV-ABCA4) Gene Therapy in Patients With ABCA4-Associated Stargardt Disease: An Open-Label Dose-Escalation Phase I/IIa Clinical Trial, Cohorts 1-5.Am J Ophthalmol2022
35266249Tissue-specific genotype-phenotype correlations among USH2A-related disorders in the RUSH2A study.Hum Mutat2022
35293952The RUSH2A Study: Dark-Adapted Visual Fields in Patients With Retinal Degeneration Associated With Biallelic Variants in the USH2A Gene.Invest Ophthalmol Vis Sci2022
34580433Injection pressure levels for creating blebs during subretinal gene therapy.Gene Ther2022
32712135Plexus-specific retinal vascular anatomy and pathologies as seen by projection-resolved optical coherence tomographic angiography.Prog Retin Eye Res2021
36186895Comparing Retinal Structure in Patients with Achromatopsia and Blue Cone Monochromacy Using OCT.Ophthalmol Sci2021
33907365Noncoding mutation in <i>RPGRIP1</i> contributes to inherited retinal degenerations.Mol Vis2021
33737949Identification of Deep-Intronic Splice Mutations in a Large Cohort of Patients With Inherited Retinal Diseases.Front Genet2021
33737031KCNV2-Associated Retinopathy: Detailed Retinal Phenotype and Structural Endpoints-KCNV2 Study Group Report 2.Am J Ophthalmol2021
33510950Optical Coherence Tomography Artifacts Are Associated With Adaptive Optics Scanning Light Ophthalmoscopy Success in Achromatopsia.Transl Vis Sci Technol2021
33507212Strategies for Treating Inherited Retinal Degeneration With Large Genes That Are Not Amenable to Adeno-Associated Virus-Based Gene Replacement Therapy.JAMA Ophthalmol2021
34919129Effect of Pharmacological Pupil Dilation on Dark-Adapted Perimetric Sensitivity in Healthy Subjects Using an Octopus 900 Perimeter.Transl Vis Sci Technol2021
34584043Genes and Gene Therapy in Inherited Retinal Disease.Int Ophthalmol Clin2021
34584042Preface to DNA-based and RNA-based Gene Therapies in Ophthalmology: Inherited and Noninherited Retinal Disorders.Int Ophthalmol Clin2021
34746433Variable expressivity of <i>BEST1</i>-associated autosomal dominant vitreoretinochoroidopathy (ADVIRC) in a three-generation pedigree.BMJ Open Ophthalmol2021
34223797Expanding the clinical phenotype in patients with disease causing variants associated with atypical Usher syndrome.Ophthalmic Genet2021
34185059Characterization of the Spectrum of Ophthalmic Changes in Patients With Alagille Syndrome.Invest Ophthalmol Vis Sci2021
34004001Tackling the Challenges of Product Development Through a Collaborative Rare Disease Network: The Foundation Fighting Blindness Consortium.Transl Vis Sci Technol2021
34196315DNA- and RNA-based Gene Therapies in Ophthalmology.Int Ophthalmol Clin2021
34196314Preface.Int Ophthalmol Clin2021
34111268Examining Whether AOSLO-Based Foveal Cone Metrics in Achromatopsia and Albinism Are Representative of Foveal Cone Structure.Transl Vis Sci Technol2021
33141049Novel variants in PNPLA6 causing syndromic retinal dystrophy.Exp Eye Res2021
33309813KCNV2-Associated Retinopathy: Genetics, Electrophysiology, and Clinical Course-KCNV2 Study Group Report 1.Am J Ophthalmol2021
32565670Biallelic <i>RP1</i>-associated retinal dystrophies: Expanding the mutational and clinical spectrum.Mol Vis2020
31973830The Evolution of Retinal Gene Therapy: From Clinical Trials to Clinical Practice.Ophthalmology2020
33117609A Ketogenic &amp; Low-Protein Diet Slows Retinal Degeneration in rd10 Mice.Transl Vis Sci Technol2020
33376833Adaptive optics ophthalmoscopy, multifocal ERG and OCTA in unique case of suspected torpedo maculopathy presenting with vitelliform lesion.Am J Ophthalmol Case Rep2020
33137195Genotype Phenotype Correlation and Variability in Microcephaly Associated With Chorioretinopathy or Familial Exudative Vitreoretinopathy.Invest Ophthalmol Vis Sci2020
33133772The RUSH2A Study: Best-Corrected Visual Acuity, Full-Field Electroretinography Amplitudes, and Full-Field Stimulus Thresholds at Baseline.Transl Vis Sci Technol2020
33119640The effects of PEGylation on LNP based mRNA delivery to the eye.PLoS One2020
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Collaborators

Richard G Weleber
Casey Eye Institute, Oregon Health & Science University
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David G Birch
Retina Foundation of the Southwest
Co-authored papers 20
Michel Michaelides
Institute of Ophthalmology, University College London
Co-authored papers 19
Byron L Lam
Bascom Palmer Eye Institute
Co-authored papers 13
Joseph Carroll
Medical College of Wisconsin Eye Institute
Co-authored papers 12
Jacque L Duncan
University of California san francisco
Co-authored papers 11
David Huang
Casey Eye Institute, Oregon Health & Science University
Co-authored papers 11
Yali Jia
Casey Eye Institute, Oregon Health & Science University
Co-authored papers 11
Andrew R Webster
Institute of Ophthalmology, University College London
Co-authored papers 10
Gerald A Fishman
University of Illinois at Chicago
Co-authored papers 8
Janet K Cheetham
Foundation Fighting Blindness
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Todd A Durham
Foundation Fighting Blindness
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Simon S Gao
Clinical Imaging Group, Inc.
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Gavin Arno
Institute of Ophthalmology, University College London
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Abigail T Fahim
University of Michigan (A.T.F.) ann arbor
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Carel B Hoyng
Radboud University Medical Center
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Michael B Gorin
Jules Stein Eye Institute
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Rui Chen
Co-authored papers 6
Anthony T Moore
UCL Institute of Ophthalmology, University College London
Co-authored papers 5
Christina Y Weng
Cullen Eye Institute, Baylor College of Medicine
Co-authored papers 4
Thomas S Hwang
Casey Eye Institute, Oregon Health & Science University
Co-authored papers 4
Maureen G Maguire
Perelman School of Medicine, University of Pennsylvania
Co-authored papers 4
Benjamin Bakall
University of Arizona College of Medicine
Co-authored papers 3
Nikolas Pontikos
Moorfields Eye Hospital, UK UCL Institute of Ophthalmology, University College London
Co-authored papers 3
Kerry E Goetz
National Eye Institute, National Institute of Health
Co-authored papers 3
Frederick L Ferris
National Eye Institute, National Institutes of Health
Co-authored papers 3
Katarina Stingl
University Eye Hospital, University of Tubingen
Co-authored papers 3
Katie M Litts
Medical College of Wisconsin
Co-authored papers 3
Shu Feng
University of Washington
Co-authored papers 3
Dongseok Choi
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