Publications
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PhenoDB, GeneMatcher and VariantMatcher, tools for analysis and sharing of sequence data. Orphanet J Rare Dis. 2021 ;16(1):365.
. The Matchmaker Exchange: a platform for rare disease gene discovery. Hum Mutat. 2015 ;36(10):915-21.
. PhenoDB: a new web-based tool for the collection, storage, and analysis of phenotypic features. Hum Mutat. 2013 ;34(4):566-71.
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