| Improving the value of clinical research through the use of Common Data Elements J Sheehan, S Hirschfeld, E Foster, U Ghitza, K Goetz, J Karpinski, L Lang, ... Clinical Trials 13 (6), 671-676, 2016 | 132 | 2016 |
| Prevalence of mutations in eyeGENE probands with a diagnosis of autosomal dominant retinitis pigmentosa LS Sullivan, SJ Bowne, MJ Reeves, D Blain, K Goetz, V NDifor, S Vitez, ... Investigative ophthalmology & visual science 54 (9), 6255-6261, 2013 | 83 | 2013 |
| NGS-based Molecular diagnosis of 105 eyeGENE® probands with Retinitis Pigmentosa Z Ge, K Bowles, K Goetz, HPN Scholl, F Wang, X Wang, S Xu, K Wang, ... Scientific reports 5 (1), 18287, 2015 | 82 | 2015 |
| Ergot cluster-encoded catalase is required for synthesis of chanoclavine-I in Aspergillus fumigatus KE Goetz, CM Coyle, JZ Cheng, SE O’Connor, DG Panaccione Current genetics 57, 201-211, 2011 | 73 | 2011 |
| Identification of deep-intronic splice mutations in a large cohort of patients with inherited retinal diseases X Qian, J Wang, M Wang, AD Igelman, KD Jones, Y Li, K Wang, KE Goetz, ... Frontiers in genetics 12, 647400, 2021 | 44 | 2021 |
| Genotype–phenotype associations in a large PRPH2‐related retinopathy cohort MJ Reeves, KE Goetz, B Guan, E Ullah, D Blain, WM Zein, SJ Tumminia, ... Human mutation 41 (9), 1528-1539, 2020 | 34 | 2020 |
| Genetic testing for inherited eye conditions in over 6,000 individuals through the eyeGENE network KE Goetz, MJ Reeves, S Gagadam, D Blain, C Bender, C Lwin, A Naik, ... American Journal of Medical Genetics Part C: Seminars in Medical Genetics …, 2020 | 33 | 2020 |
| Molecular diagnostic testing by eyeGENE: analysis of patients with hereditary retinal dystrophy phenotypes involving central vision loss A Alapati, K Goetz, J Suk, M Navani, A Al-Tarouti, T Jayasundera, ... Investigative ophthalmology & visual science 55 (9), 5510-5521, 2014 | 23 | 2014 |
| eyeGENE (R): a novel approach to combine clinical testing and researching genetic ocular disease KE Goetz, MJ Reeves, SJ Tumminia, BP Brooks Current opinion in ophthalmology 23 (5), 355-363, 2012 | 23 | 2012 |
| Clinical, social, and policy factors in COVID-19 cases and deaths: methodological considerations for feature selection and modeling in county-level analyses C Madlock-Brown, K Wilkens, N Weiskopf, N Cesare, S Bhattacharyya, ... BMC Public Health 22 (1), 747, 2022 | 20 | 2022 |
| Structural analysis of a peptide synthetase gene required for ergopeptine production in the endophytic fungus Neotyphodium lolii Full Length Research Paper P Damrongkool, P Damrongkool, AB Sedlock, P Damrongkool, ... DNA sequence 16 (5), 379-385, 2005 | 20 | 2005 |
| eyeGENE®: a vision community resource facilitating patient care and paving the path for research through molecular diagnostic testing D Blain, KE Goetz, R Ayyagari, SJ Tumminia Clinical genetics 84 (2), 190-197, 2013 | 19 | 2013 |
| Advancing Toward a Common Data Model in Ophthalmology: Gap Analysis of General Eye Examination Concepts to Standard Observational Medical Outcomes Partnership (OMOP) Concepts CX Cai, W Halfpenny, MV Boland, HP Lehmann, M Hribar, KE Goetz, ... Ophthalmology Science 3 (4), 100391, 2023 | 13 | 2023 |
| Rare and common variants in ROM1 and PRPH2 genes trans-modify Stargardt/ABCA4 disease J Zernant, W Lee, J Wang, K Goetz, E Ullah, T Nagasaki, PY Su, ... PLoS Genetics 18 (3), e1010129, 2022 | 13 | 2022 |
| Report of the Medical Image De-Identification (MIDI) Task Group-Best Practices and Recommendations DA Clunie, A Flanders, A Taylor, B Erickson, B Bialecki, D Brundage, ... Arxiv, 2023 | 9 | 2023 |
| Systematic assessment of the contribution of structural variants to inherited retinal diseases S Wen, M Wang, X Qian, Y Li, K Wang, J Choi, ME Pennesi, P Yang, ... Human molecular genetics 32 (12), 2005-2015, 2023 | 8 | 2023 |
| Mutation screening in the miR-183/96/182 cluster in patients with inherited retinal dystrophy S Xu, A Coku, CK Muraleedharan, A Harajli, E Mishulin, C Dahabra, ... Frontiers in Cell and Developmental Biology 8, 619641, 2020 | 8 | 2020 |
| Accelerating Care: A Roadmap to Interoperable Ophthalmic Imaging Standards in the United States KE Goetz, AA Reed, MF Chiang, T Keane, M Tripathi, E Ng, T Nguyen, ... Ophthalmology 131 (1), 12-15, 2024 | 7 | 2024 |
| Sample confirmation testing: A short tandem repeat-based quality assurance and quality control procedure for the eyeGENE biorepository RS Parrish, AV Garafalo, V Ndifor, KE Goetz, MJ Reeves, A Yim, ... Biopreservation and Biobanking 14 (2), 149-155, 2016 | 7 | 2016 |
| Ocular health and national data standards: a case for including visual acuity in the United States Core Data for Interoperability (USCDI) SL Baxter, AA Reed, A Maa, MV Boland, DS Borkar, EN Brown, F Lum, ... Ophthalmology Science 2 (4), 2022 | 6 | 2022 |
