GeneMatcher: A Matching Tool for Connecting Investigators with an Interest in the Same Gene
Sobreira, Nara, Schiettecatte, François, Valle, David, Hamosh, Ada
Published in Human mutation (01.10.2015)
Published in Human mutation (01.10.2015)
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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 Gene
Sobreira, Nara, Schiettecatte, François, Boehm, Corinne, Valle, David, Hamosh, Ada
Published in Human mutation (01.04.2015)
Published in Human mutation (01.04.2015)
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The Matchmaker Exchange: A Platform for Rare Disease Gene Discovery
Philippakis, Anthony A., Azzariti, Danielle R., Beltran, Sergi, Brookes, Anthony J., Brownstein, Catherine A., Brudno, Michael, Brunner, Han G., Buske, Orion J., Carey, Knox, Doll, Cassie, Dumitriu, Sergiu, Dyke, Stephanie O.M., den Dunnen, Johan T., Firth, Helen V., Gibbs, Richard A., Girdea, Marta, Gonzalez, Michael, Haendel, Melissa A., Hamosh, Ada, Holm, Ingrid A., Huang, Lijia, Hurles, Matthew E., Hutton, Ben, Krier, Joel B., Misyura, Andriy, Mungall, Christopher J., Paschall, Justin, Paten, Benedict, Robinson, Peter N., Schiettecatte, François, Sobreira, Nara L., Swaminathan, Ganesh J., Taschner, Peter E., Terry, Sharon F., Washington, Nicole L., Züchner, Stephan, Boycott, Kym M., Rehm, Heidi L.
Published in Human mutation (01.10.2015)
Published in Human mutation (01.10.2015)
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Assessment of incidental findings in 232 whole-exome sequences from the Baylor-Hopkins Center for Mendelian Genomics
Jurgens, Julie, Ling, Hua, Hetrick, Kurt, Pugh, Elizabeth, Schiettecatte, Francois, Doheny, Kimberly, Hamosh, Ada, Avramopoulos, Dimitri, Valle, David, Sobreira, Nara
Published in Genetics in medicine (01.10.2015)
Published in Genetics in medicine (01.10.2015)
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The Matchmaker Exchange API: Automating Patient Matching Through the Exchange of Structured Phenotypic and Genotypic Profiles
Buske, Orion J., Schiettecatte, François, Hutton, Benjamin, Dumitriu, Sergiu, Misyura, Andriy, Huang, Lijia, Hartley, Taila, Girdea, Marta, Sobreira, Nara, Mungall, Chris, Brudno, Michael
Published in Human mutation (01.10.2015)
Published in Human mutation (01.10.2015)
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Matchmaker Exchange
Sobreira, Nara L M, Arachchi, Harindra, Buske, Orion J, Chong, Jessica X, Hutton, Ben, Foreman, Julia, Schiettecatte, François, Groza, Tudor, Jacobsen, Julius O B, Haendel, Melissa A, Boycott, Kym M, Hamosh, Ada, Rehm, Heidi L
Published in Current protocols in human genetics (01.10.2017)
Published in Current protocols in human genetics (01.10.2017)
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The Genome Data Base (GDB)
Brunn, Christopher W., Cartwright, Peter E., Marquette, David M., Schiettecatte, Francois J.M.
Published in Proceedings - Symposium on Computer Application in Medical Care (07.11.1990)
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Published in Proceedings - Symposium on Computer Application in Medical Care (07.11.1990)
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