Kerry Goetz

Publications

• Common data elements for clinical research in mitochondrial disease: a National Institute for Neurological Disorders and Stroke project
• Structural analysis of a peptide synthetase gene required for ergopeptine production in the endophytic fungus Neotyphodium lolii
• Sample Confirmation Testing: A Short Tandem Repeat-Based Quality Assurance and Quality Control Procedure for the eyeGENE Biorepository
• EyeGENE(R): A novel approach to combine clinical testing and researching genetic ocular disease
• Prevalence of mutations in eyeGENE probands with a diagnosis of autosomal dominant retinitis pigmentosa
• Ergot cluster-encoded catalase is required for synthesis of chanoclavine-I in Aspergillus fumigatus
• Improving the value of clinical research through the use of Common Data Elements
• Molecular diagnostic testing by eyeGENE: Analysis of patients with hereditary retinal dystrophy phenotypes involving central vision loss
• NGS-based Molecular diagnosis of 105 eyeGENE ® probands with Retinitis Pigmentosa
• EyeGENE®: A vision community resource facilitating patient care and paving the path for research through molecular diagnostic testing
• Identification of Deep-Intronic Splice Mutations in a Large Cohort of Patients With Inherited Retinal Diseases.
• Mutation Screening in the miR-183/96/182 Cluster in Patients With Inherited Retinal Dystrophy.
• Rare and common variants in ROM1 and PRPH2 genes trans-modify Stargardt/ABCA4 disease
• Clinical, social, and policy factors in COVID-19 cases and deaths: methodological considerations for feature selection and modeling in county-level analyses
• Accelerating Care: A Roadmap to Interoperable Ophthalmic Imaging Standards in the United States