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Year | Number of Results |
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2020 | 1 |
2022 | 1 |
2024 | 0 |
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Collaborative Research and Development of a Novel, Patient-Centered Digital Platform (MyEyeSite) for Rare Inherited Retinal Disease Data: Acceptability and Feasibility Study.
JMIR Form Res. 2022 Jan 31;6(1):e21341. doi: 10.2196/21341.
JMIR Form Res. 2022.
PMID: 35099396
Free PMC article.
An Improved Phenotype-Driven Tool for Rare Mendelian Variant Prioritization: Benchmarking Exomiser on Real Patient Whole-Exome Data.
Cipriani V, Pontikos N, Arno G, Sergouniotis PI, Lenassi E, Thawong P, Danis D, Michaelides M, Webster AR, Moore AT, Robinson PN, Jacobsen JOB, Smedley D.
Cipriani V, et al.
Genes (Basel). 2020 Apr 23;11(4):460. doi: 10.3390/genes11040460.
Genes (Basel). 2020.
PMID: 32340307
Free PMC article.
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