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Human Mutation|July 30, 2015
GeneMatcher: a matching tool for connecting investigators with an interest in the same geneNara Sobreira, François Schiettecatte, David Valle, et al.Current Protocols|September 21, 2022
Exploring Genes and Phenotypes Within Chromosomal Regions Using OMIM's GeneScoutCarolyn D Applegate, François Schiettecatte, Ada Hamosh, et al.Human Mutation|February 17, 2015
New tools for Mendelian disease gene identification: PhenoDB variant analysis module; and GeneMatcher, a web-based tool for linking investigators with an interest in the same geneNara Sobreira, François Schiettecatte, Corinne Boehm, et al.Nucleic Acids Research|November 28, 2014
OMIM.org: Online Mendelian Inheritance in Man (OMIM®), an online catalog of human genes and genetic disordersJoanna S Amberger, Carol A Bocchini, François Schiettecatte, et al.Human Mutation|February 5, 2013
PhenoDB: a new web-based tool for the collection, storage, and analysis of phenotypic featuresAda Hamosh, Nara Sobreira, Julie Hoover-Fong, et al.Human Mutation|August 11, 2015
The Matchmaker Exchange API: automating patient matching through the exchange of structured phenotypic and genotypic profilesOrion J Buske, François Schiettecatte, Benjamin Hutton, et al.Current Protocols in Human Genetics|October 19, 2017
Matchmaker ExchangeNara L M Sobreira, Harindra Arachchi, Orion J Buske, et al.Human Mutation|August 22, 2015
The Matchmaker Exchange: a platform for rare disease gene discoveryAnthony A Philippakis, Danielle R Azzariti, Sergi Beltran, et al.Pageof 1