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Author Details

Kerry E Goetz
National Eye Institute, National Institute of Health
2005
20
10
PMIDPaper TitleJournal TitlePublished Year
36811936Systematic assessment of the contribution of structural variants to inherited retinal diseases.Hum Mol Genet2023
38025162Advancing Toward a Common Data Model in Ophthalmology: Gap Analysis of General Eye Examination Concepts to Standard Observational Medical Outcomes Partnership (OMOP) Concepts.Ophthalmol Sci2023
36789417Systematic assessment of the contribution of structural variants to inherited retinal diseases.bioRxiv2023
36206110Artificial intelligence at the national eye institute.Curr Opin Ophthalmol2022
35353811Rare and common variants in ROM1 and PRPH2 genes trans-modify Stargardt/ABCA4 disease.PLoS Genet2022
35525297Artificial intelligence-based strategies to identify patient populations and advance analysis in age-related macular degeneration clinical trials.Exp Eye Res2022
36570621Ocular Health and National Data Standards: A Case for Including Visual Acuity in the United States Core Data for Interoperability (USCDI).Ophthalmol Sci2022
33737949Identification of Deep-Intronic Splice Mutations in a Large Cohort of Patients With Inherited Retinal Diseases.Front Genet2021
32531846Genotype-phenotype associations in a large PRPH2-related retinopathy cohort.Hum Mutat2020
33425925Mutation Screening in the miR-183/96/182 Cluster in Patients With Inherited Retinal Dystrophy.Front Cell Dev Biol2020
32893963Genetic testing for inherited eye conditions in over 6,000 individuals through the eyeGENE network.Am J Med Genet C Semin Med Genet2020
26891080Sample Confirmation Testing: A Short Tandem Repeat-Based Quality Assurance and Quality Control Procedure for the eyeGENE Biorepository.Biopreserv Biobank2016
27311638Improving the value of clinical research through the use of Common Data Elements.Clin Trials2016
26667666NGS-based Molecular diagnosis of 105 eyeGENE(®) probands with Retinitis Pigmentosa.Sci Rep2015
25082885Molecular diagnostic testing by eyeGENE: analysis of patients with hereditary retinal dystrophy phenotypes involving central vision loss.Invest Ophthalmol Vis Sci2014
23662816eyeGENE®: a vision community resource facilitating patient care and paving the path for research through molecular diagnostic testing.Clin Genet2013
23950152Prevalence of mutations in eyeGENE probands with a diagnosis of autosomal dominant retinitis pigmentosa.Invest Ophthalmol Vis Sci2013
22847030eyeGENE(R): a novel approach to combine clinical testing and researching genetic ocular disease.Curr Opin Ophthalmol2012
21409592Ergot cluster-encoded catalase is required for synthesis of chanoclavine-I in Aspergillus fumigatus.Curr Genet2011
16243728Structural analysis of a peptide synthetase gene required for ergopeptine production in the endophytic fungus Neotyphodium lolii.DNA Seq2005
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Co-authored papers 3
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Co-authored papers 3
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Hao Chen
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