GeneMatcher: A Matching Tool for Connecting Investigators with an Interest in the Same Gene

Por Sobreira, Nara, Schiettecatte, François, Valle, David, Hamosh, Ada
Publicado no Hum Mutat (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 Gene

Por Sobreira, Nara, Schiettecatte, François, Boehm, Corinne, Valle, David, Hamosh, Ada
Publicado no Hum Mutat (2015)

OMIM.org: Online Mendelian Inheritance in Man (OMIM(®)), an online catalog of human genes and genetic disorders

Por Amberger, Joanna S., Bocchini, Carol A., Schiettecatte, François, Scott, Alan F., Hamosh, Ada
Publicado no Nucleic Acids Res (2014)

The Genome Data Base (GDB)

Por Brunn, Christopher W., Cartwright, Peter E., Marquette, David M., Schiettecatte, Francois J.M.
Publicado em 1990

PhenoDB: A New Web-Based Tool for the Collection, Storage, and Analysis of Phenotypic Features

Por Hamosh, Ada, Sobreira, Nara, Hoover-Fong, Julie, Sutton, V Reid, Boehm, Corinne, Schiettecatte, François, Valle, David
Publicado em 2013

Assessment of incidental findings in 232 whole exome sequences from the Baylor-Hopkins Center for Mendelian Genomics

Por Jurgens, Julie, Ling, Hua, Hetrick, Kurt, Pugh, Elizabeth, Schiettecatte, Francois, Doheny, Kimberly, Hamosh, Ada, Avramopoulos, Dimitri, Valle, David, Sobreira, Nara
Publicado no Genet Med (2015)

The Matchmaker Exchange API: automating patient matching through the exchange of structured phenotypic and genotypic profiles

Por Buske, Orion J., Schiettecatte, François, Hutton, Benjamin, Dumitriu, Sergiu, Misyura, Andriy, Huang, Lijia, Hartley, Taila, Girdea, Marta, Sobreira, Nara, Mungall, Chris, Brudno, Michael
Publicado no Hum Mutat (2015)

Matchmaker Exchange

Por Sobreira, Nara L M, Arachchi, Harindra, Buske, Orion, Chong, Jessica X., Hutton, Ben, Foreman, Julia, Schiettecatte, François, Groza, Tudor, Jacobsen, Julius O.B., Haendel, Melissa, Boycott, Kym M, Hamosh, Ada, Rehm, Heidi L.
Publicado no Curr Protoc Hum Genet (2017)

The Matchmaker Exchange: A Platform for Rare Disease Gene Discovery

Por 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.
Publicado no Hum Mutat (2015)