Mark E. Pennesi

Also affiliated with Retina Foundation of the Southwest, Retina Research Foundation

Biochemistry, Genetics and Molecular BiologyMedicineNeuroscience

Pilot corpus only

This score is computed over theSindex pilot corpus and does not cover the full scientific literature. Scores are relative to papers we have ingested — papers, authors, and institutions outside the pilot are not represented. Methodology.

Top 3%percentile

1.5Author DataRank

Indexed papers

2in pilot corpus

datarank_citation_only_1hop_v6· scope data_onlyMethodology

Why this DataRank?

An author's DataRank is the sum of the DataRanks of all 2 indexed papers attributed to them. A prolific author with many moderate-impact papers can outrank one with a single high-impact paper.

Author scores recompute whenever paper DataRanks are refreshed, so this number lags the underlying paper scores by at most one batch run.

Read the full methodology →

The highest-impact dataset this researcher has shared, ranked by DataRank — the single contribution doing the most to lift their data-sharing standing.

The RUSH2A Study: Best-Corrected Visual Acuity, Full-Field Electroretinography Amplitudes, and Full-Field Stimulus Thresholds at Baseline

Translational Vision Science & Technology(2020)10.1167/tvst.9.11.9

Top 14%

1.5DataRank

Top 14%58 citations

Peiyao Cheng, Jacque L. Duncan, Allison R. Ayala, Maureen G. Maguire, Isabelle Audo +15 more

Papers

Driven by 53 papers — median percentile 43. Top paper: “Gene Editing for CEP290 -Associated Retinal Degeneration”.

Gene Editing for CEP290 -Associated Retinal Degeneration

New England Journal of Medicine(2024)10.1056/nejmoa2309915

N/A

3.3DataRank · unranked

204 citations

Tomás S. Alemán, Kanishka T. Jayasundera, Bright S. Ashimatey, Keunpyo Kim, Alia Rashid +9 more

The RUSH2A Study: Best-Corrected Visual Acuity, Full-Field Electroretinography Amplitudes, and Full-Field Stimulus Thresholds at Baseline

Translational Vision Science & Technology(2020)10.1167/tvst.9.11.9

Top 14%

1.5DataRank

Top 14%58 citations

Peiyao Cheng, Jacque L. Duncan, Allison R. Ayala, Maureen G. Maguire, Isabelle Audo +15 more

Perimacular Atrophy Following Voretigene Neparvovec-Rzyl Treatment in the Setting of Previous Contralateral Eye Treatment With a Different Viral Vector

Translational Vision Science & Technology(2024)10.1167/tvst.13.6.11

N/A

0.480DataRank · unranked

10 citations

Austin D. Igelman, Samuel J. Huang, Steven T. Bailey, Andreas Lauer, Jacque L. Duncan +4 more

Bull's eye maculopathy associated with hereditary hemochromatosis

American Journal of Ophthalmology Case Reports(2020)10.1016/j.ajoc.2020.100674

N/A

0DataRank · unranked

9 citations

Joshua L. Dunaief, Paul Yang, Mark E. Pennesi, Ellen Davis, Holly Hofkamp +2 more

Baseline Visual Field Findings in the RUSH2A Study: Associated Factors and Correlation With Other Measures of Disease Severity

American Journal of Ophthalmology(2020)10.1016/j.ajo.2020.05.024

N/A

0DataRank · unranked

41 citations

Wendi Liang, Maureen G. Maguire, Isabelle Audo, Allison R. Ayala, David G. Birch +16 more

Intraoperative optical coherence tomographic findings in patients undergoing subretinal gene therapy surgery

International Journal of Retina and Vitreous(2020)10.1186/s40942-020-00216-1

N/A

0DataRank · unranked

36 citations

Brandon J. Lujan, Mark E. Pennesi, Paul Yang, Andreas Lauer, Huber Vasconcelos

Suppression of cGMP-Dependent Photoreceptor Cytotoxicity With Mycophenolate Is Neuroprotective in Murine Models of Retinitis Pigmentosa

Investigative Ophthalmology & Visual Science(2020)10.1167/iovs.61.10.25

N/A

0DataRank · unranked

34 citations

Rachel Lockard, Hope Titus, Jordan Hiblar, Kyle K. Weller, Dahlia Wafai +5 more

Adaptive optics ophthalmoscopy, multifocal ERG and OCTA in unique case of suspected torpedo maculopathy presenting with vitelliform lesion

American Journal of Ophthalmology Case Reports(2020)10.1016/j.ajoc.2020.100996

N/A

0DataRank · unranked

3 citations

Florin Grigorian, Huber Vasconcelos, Robert C. Watzke, Mark E. Pennesi, Nathan G. Lambert

Identification of Deep-Intronic Splice Mutations in a Large Cohort of Patients With Inherited Retinal Diseases

Frontiers in Genetics(2021)10.3389/fgene.2021.647400

N/A

0DataRank · unranked

69 citations

Jun Wang, Meng C. Wang, Austin D. Igelman, Kaylie Webb-Jones, Yumei Li +7 more

Injection pressure levels for creating blebs during subretinal gene therapy

Gene Therapy(2021)10.1038/s41434-021-00294-2

N/A

0DataRank · unranked

26 citations

Huber Vasconcelos, Mariana Matioli da Palma, Katie Kogachi, Mark E. Pennesi, Paul Yang +3 more

Expanding the clinical phenotype in patients with disease causing variants associated with atypical Usher syndrome

Ophthalmic Genetics(2021)10.1080/13816810.2021.1946704

N/A

0DataRank · unranked

34 citations

Cristy A. Ku, Mariana Matioli da Palma, Michalis Georgiou, Elena Schiff, Byron L. Lam +16 more

KCNV2-Associated Retinopathy: Detailed Retinal Phenotype and Structural Endpoints—KCNV2 Study Group Report 2

American Journal of Ophthalmology(2021)10.1016/j.ajo.2021.03.004

N/A

0DataRank · unranked

28 citations

Kaoru Fujinami, Ajoy Vincent, Fadi Nasser, Samer Khateb, Mauricio E. Vargas +32 more

Tackling the Challenges of Product Development Through a Collaborative Rare Disease Network: The Foundation Fighting Blindness Consortium

Translational Vision Science & Technology(2021)10.1167/tvst.10.4.23

N/A

0DataRank · unranked

13 citations

Jacque L. Duncan, Allison R. Ayala, David G. Birch, Janet K. Cheetham, Frederick L. Ferris +4 more

Optical Coherence Tomography Artifacts Are Associated With Adaptive Optics Scanning Light Ophthalmoscopy Success in Achromatopsia

Translational Vision Science & Technology(2021)10.1167/tvst.10.1.11

N/A

0DataRank · unranked

14 citations

Erica N. Woertz, Michalis Georgiou, Emily J Patterson, Byron L. Lam, Gerald A. Fishman +6 more

Comparing Retinal Structure in Patients with Achromatopsia and Blue Cone Monochromacy Using OCT

Ophthalmology Science(2021)10.1016/j.xops.2021.100047

N/A

0DataRank · unranked

11 citations

Christopher S. Langlo, Michalis Georgiou, Angelos Kalitzeos, Mark E. Pennesi, Jay Neitz +5 more

Intravitreal Delivery of rAAV2tYF-CB-hRS1 Vector for Gene Augmentation Therapy in Patients with X-Linked Retinoschisis

Ophthalmology Retina(2022)10.1016/j.oret.2022.06.013

N/A

0DataRank · unranked

73 citations

Paul Yang, David G. Birch, Christina Y. Weng, Anthony T. Moore, Alessandro Iannaccone +19 more

Three‐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

American Journal of Ophthalmology(2022)10.1016/j.ajo.2022.02.013

N/A

0DataRank · unranked

56 citations

Laura Erker, Isabelle Audo, Dongseok Choi, Saddek Mohand‐Saïd, Kąstytis Šeštakauskas +20 more

Tissue‐specific genotype–phenotype correlations among USH2A‐related disorders in the RUSH2A study

Human Mutation(2022)10.1002/humu.24365

N/A

0DataRank · unranked

23 citations

Wendi Liang, Jacque L. Duncan, Carmen C. Brewer, Isabelle Audo, Allison R. Ayala +14 more

Signal Peptide Variants in Inherited Retinal Diseases: A Multi-Institutional Case Series

International Journal of Molecular Sciences(2022)10.3390/ijms232113361

N/A

0DataRank · unranked

6 citations

Rebecca Procopio, Tobin B. T. Thuma, Molly Marra, Natalio Izquierdo, Michael A. Klufas +4 more

Two-Color Dark-Adapted Perimetry Implemented With a Commercially Available Perimeter to Characterize Rod-Pathway Sensitivity

Ophthalmic surgery, lasers & imaging retina(2022)10.3928/23258160-20221118-03

N/A

0DataRank · unranked

4 citations

Jason C. Park, Robert A. Hyde, Lesley Everett, Paul Yang, Mark E. Pennesi +2 more

Improved Rod Sensitivity as Assessed by Two-Color Dark-Adapted Perimetry in Patients With RPE65-Related Retinopathy Treated With Voretigene Neparvovec-rzyl

Translational Vision Science & Technology(2023)10.1167/tvst.12.4.17

N/A

0DataRank · unranked

17 citations

Austin D. Igelman, Samuel J. Huang, Huber Vasconcelos, Mariana Matioli da Palma, Steven T. Bailey +5 more

A G1528C Hadha knock-in mouse model recapitulates aspects of human clinical phenotypes for long-chain 3-hydroxyacyl-CoA dehydrogenase deficiency

Communications Biology(2023)10.1038/s42003-023-05268-1

N/A

0DataRank · unranked

14 citations

Shannon Babcock, Renee C. Ryals, Gabriela Elizondo, Tiffany DeVine, Dahlia Wafai +8 more

Novel Pathogenic Mutations Identified from Whole-Genome Sequencing in Unsolved Cases of Patients Affected with Inherited Retinal Diseases

Genes(2023)10.3390/genes14020447

N/A

0DataRank · unranked

10 citations

Meng Wang, Austin Huang, Ryan Schmidt, Xinye Qian, Paul Yang +5 more

Gene therapy in bestrophinopathies: Insights from preclinical studies in preparation for clinical trials

Saudi Journal of Ophthalmology(2023)10.4103/sjopt.sjopt_175_23

N/A

0DataRank · unranked

7 citations

Nida Wongchaisuwat, Andrew Lamborn, Ryan Schmidt, Lesley Everett, Paul Yang +2 more

KCNV2-associated retinopathy: genotype–phenotype correlations –KCNV2study group report 3

British Journal of Ophthalmology(2023)10.1136/bjo-2023-323640

N/A

0DataRank · unranked

5 citations

Michalis Georgiou, Anthony G. Robson, Kaoru Fujinami, Ajoy Vincent, Fadi Nasser +31 more

Systematic assessment of the contribution of structural variants to inherited retinal diseases

Human Molecular Genetics(2023)10.1093/hmg/ddad032

N/A

0DataRank · unranked

10 citations

Meng C. Wang, Xinye Qian, Yumei Li, Keqing Wang, Jongsu Choi +13 more

Optical coherence tomography angiography of choroidal neovascularization in long-chain 3-hydroxyacyl-CoA dehydrogenase deficiency (LCHADD)

American Journal of Ophthalmology Case Reports(2023)10.1016/j.ajoc.2023.101958

N/A

0DataRank · unranked

9 citations

Jie Wang, Paul Yang, Lesley Everett, Ashley Gregor, José‐Alain Sahel +5 more

Expanding the phenotypic and genotypic spectrum of patients with HGSNAT -related retinopathy

Ophthalmic Genetics(2023)10.1080/13816810.2023.2245035

N/A

0DataRank · unranked

6 citations

Molly Marra, Austin D. Igelman, Cristy A. Ku, Amanda Burr, Katherine Andersen +6 more

Retinitis pigmentosa GTPase regulator-related retinopathy and gene therapy

Saudi Journal of Ophthalmology(2023)10.4103/sjopt.sjopt_168_23

N/A

0DataRank · unranked

5 citations

Alessia Amato, Andrew Lamborn, Paul Yang, Lesley Everett, Mark E. Pennesi +1 more

Vitelliform maculopathy in MELAS syndrome

American Journal of Ophthalmology Case Reports(2023)10.1016/j.ajoc.2023.101842

N/A

0DataRank · unranked

3 citations

Cristy A. Ku, Molly Marra, Mark E. Pennesi, Paul Yang, Cody Jahrig

Systematic assessment of the contribution of structural variants to inherited retinal diseases

bioRxiv (Cold Spring Harbor Laboratory)(2023)10.1101/2023.01.02.522522

N/A

0DataRank · unranked

5 citations

Meng C. Wang, Xinye Qian, Yumei Li, Keqing Wang, Jongsu Choi +13 more

Endpoints and Design for Clinical Trials in USH2A-Related Retinal Degeneration: Results and Recommendations From the RUSH2A Natural History Study

Translational Vision Science & Technology(2024)10.1167/tvst.13.10.15

N/A

0DataRank · unranked

16 citations

David G. Birch, Jacque L. Duncan, Allison R. Ayala, Lauren N. Ayton, Janet K. Cheetham +17 more

A proposal for an updated staging system for LCHADD retinopathy

Ophthalmic Genetics(2024)10.1080/13816810.2024.2303682

N/A

0DataRank · unranked

14 citations

Melanie B. Gillingham, Paul Yang, Lesley Everett, Ashley Gregor, Cary O. Harding +8 more

Loss-of-function variants in UBAP1L cause autosomal recessive retinal degeneration

Genetics in Medicine(2024)10.1016/j.gim.2024.101106

N/A

0DataRank · unranked

14 citations

Kim Rodenburg, Tamar Hayman, Giacomo Calzetti, Karolina Kamińska, Mathieu Quinodoz +20 more

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

Human Molecular Genetics(2024)10.1093/hmg/ddae028

N/A

0DataRank · unranked

11 citations

Meng Wang, Hafiz Muhammad Jafar Hussain, David E Rauch, Molly Marra, Mark E. Pennesi +14 more

Early diagnosis and treatment by newborn screening (NBS) or family history is associated with improved visual outcomes for long‐chain 3‐hydroxyacylCoA dehydrogenase deficiency (LCHADD) chorioretinopathy

Journal of Inherited Metabolic Disease(2024)10.1002/jimd.12738

N/A

0DataRank · unranked

9 citations

Dongseok Choi, Ashley Gregor, Nida Wongchaisuwat, Danielle Black, Hannah L. Scanga +7 more

Characterising the refractive error in paediatric patients with congenital stationary night blindness: a multicentre study

British Journal of Ophthalmology(2024)10.1136/bjo-2023-323747

N/A

0DataRank · unranked

7 citations

Elizabeth White, Alaa Tayyib, Lesley Everett, Ajoy Vincent, Elise Héon +52 more

Using Multimodal Imaging to Refine the Phenotype of PRPH2-associated Retinal Degeneration

Ophthalmology Retina(2024)10.1016/j.oret.2024.07.016

N/A

0DataRank · unranked

6 citations

Naomi E. Wagner, Thiago Barros de Oliveira, Lesley Everett, Paul Yang, Mark E. Pennesi +2 more

iPSC-Derived LCHADD Retinal Pigment Epithelial Cells Are Susceptible to Lipid Peroxidation and Rescued by Transfection of a Wildtype AAV-HADHA Vector

Investigative Ophthalmology & Visual Science(2024)10.1167/iovs.65.11.22

N/A

0DataRank · unranked

4 citations

Gabriela Elizondo, Garen Gaston, Shannon Babcock, Dietrich Matern, Mikhail S. Shchepinov +4 more

Patient-reported visual function outcomes agree with visual acuity and ophthalmologist-graded scoring of visual function among patients with long-chain 3-hydroxyacylcoA dehydrogenase deficiency (LCHADD)

Molecular Genetics and Metabolism Reports(2024)10.1016/j.ymgmr.2024.101171

N/A

0DataRank · unranked

0 citations

Danielle Black, Nida Wongchaisuwat, Mark E. Pennesi, Melanie B. Gillingham, Ashley Gregor

Gene Therapy-Associated Uveitis (GTAU): Understanding and mitigating the adverse immune response in retinal gene therapy

Progress in Retinal and Eye Research(2025)10.1016/j.preteyeres.2025.101354

N/A

0DataRank · unranked

21 citations

Molly John, AE Bray, Alison J. Clare, David A. Copland, Ying Chan +10 more

Plasma Metabolomics, Lipidomics, and Acylcarnitines Are Associated With Vision and Genotype but Not With Dietary Intake in Long‐Chain 3‐Hydroxyacyl‐CoA Dehydrogenase Deficiency (LCHADD)

Journal of Inherited Metabolic Disease(2025)10.1002/jimd.70060

N/A

0DataRank · unranked

4 citations

Dongseok Choi, Ashley Gregor, Elaine Sim, Alison Lau, Danielle Black +12 more

Evaluating the clinical utility of multimodal large language models in rare maculopathy

Scientific Reports(2025)10.1038/s41598-025-29299-2

N/A

0DataRank · unranked

2 citations

Evan Walker, Ines D. Nagel, Nehal Nailesh Mehta, Jesse Most, Henry Ferreyra +5 more

Characterization of Visual Field Loss Over 4 Years in the Rate of Progression in USH2A-Related Retinal Degeneration (RUSH2A) Study

American Journal of Ophthalmology(2025)10.1016/j.ajo.2025.03.039

N/A

0DataRank · unranked

1 citations

Maureen G. Maguire, Lee S. McDaniel, Nicole R. Doucet, Isabelle Audo, Allison R. Ayala +17 more

Effects of medications on the human electroretinogram: A comprehensive review

Survey of Ophthalmology(2025)10.1016/j.survophthal.2025.04.003

N/A

0DataRank · unranked

1 citations

Mark E. Pennesi, Paul Yang, Wayne Tschetter, Lesley Everett, Justin J. Grassmeyer

Biallelic loss-of-function variants in C19orf44 lead to retinal degeneration

Journal of Medical Genetics(2025)10.1136/jmg-2025-110681

N/A

0DataRank · unranked

1 citations

Meng Wang, Yumei Li, Sabika Firasat, Mark E. Pennesi, Michael B. Gorin +10 more

Natural History of Microperimetry and Optical Coherence Tomography in USH2A-Retinopathy: A Structure-Function Association Study

American Journal of Ophthalmology(2025)10.1016/j.ajo.2025.04.034

N/A

0DataRank · unranked

1 citations

Wendi Liang, Maureen G. Maguire, Jacque L. Duncan, Allison R. Ayala, Paul S. Bernstein +15 more

Longitudinal Imaging of the Parafoveal Cone Mosaic in Congenital Achromatopsia

Ophthalmology Science(2025)10.1016/j.xops.2025.100765

Top 100%

0DataRank

Top 100%0 citations

Katie M. Litts, Danica Nikezic, Christopher S. Langlo, Brian P. Higgins, Byron L. Lam +7 more

Variants in CFAP410 cause a range of retinal and skeletal phenotypes

npj Genomic Medicine(2025)10.1038/s41525-025-00489-1

N/A

0DataRank · unranked

0 citations

Amy E. Pohodich, David G. Birch, Kaylie Webb-Jones, Byron L. Lam, Emily H. Jung +44 more

The effects of PEGylation on LNP based mRNA delivery to the eye

PLoS ONE(2020)10.1371/journal.pone.0241006

N/A

0DataRank · unranked

186 citations

Siddharth Patel, Chris Acosta, Madison McKinney, Mark E. Pennesi, Gaurav Sahay +1 more

Development and Validation of a Commercially Available Two Color Dark Adapted Perimetry to Assess Inherited Retinal Degenerations

American Journal of Ophthalmology(2025)10.1016/j.ajo.2025.09.052

N/A

0DataRank · unranked

0 citations

Alessia Amato, Wayne Tschetter, Ryan Schmidt, Austin D. Igelman, David G. Birch +5 more

Disease Course in Patients With Pentosan Polysulfate Sodium–Associated Maculopathy After Drug Cessation

JAMA Ophthalmology(2020)10.1001/jamaophthalmol.2020.2349

N/A

0DataRank · unranked

49 citations

Joseph M. Simonett, Riley J. Lyons, Rajesh C. Rao, Mark E. Pennesi, Nieraj Jain +1 more

Novel variants in PNPLA6 causing syndromic retinal dystrophy

Experimental Eye Research(2020)10.1016/j.exer.2020.108327

N/A

0DataRank · unranked

20 citations

Zixi Sun, Tian Zhu, Richard G. Weleber, Paul Yang, Xing Wei +3 more

Mark E. Pennesi

Indexed papers

Top data-sharing exemplar

Papers