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Matchmaker Exchange. Curr Protoc Hum Genet 95, 9.31.1-9.31.15 (2017).
Assessment of incidental findings in 232 whole-exome sequences from the Baylor-Hopkins Center for Mendelian Genomics. Genet Med 17, 782-8 (2015).
GeneMatcher: a matching tool for connecting investigators with an interest in the same gene. Hum Mutat 36, 928-30 (2015).
The Matchmaker Exchange: a platform for rare disease gene discovery. Hum Mutat 36, 915-21 (2015).
The Matchmaker Exchange API: automating patient matching through the exchange of structured phenotypic and genotypic profiles. Hum Mutat 36, 922-7 (2015).
PhenoDB: a new web-based tool for the collection, storage, and analysis of phenotypic features. Hum Mutat 34, 566-71 (2013).