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

av Sobreira, Nara, Schiettecatte, François, Valle, David, Hamosh, Ada
I publikationen 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

av Sobreira, Nara, Schiettecatte, François, Boehm, Corinne, Valle, David, Hamosh, Ada
I publikationen Hum Mutat (2015)

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

av Amberger, Joanna S., Bocchini, Carol A., Schiettecatte, François, Scott, Alan F., Hamosh, Ada
I publikationen Nucleic Acids Res (2014)

The Genome Data Base (GDB)

av Brunn, Christopher W., Cartwright, Peter E., Marquette, David M., Schiettecatte, Francois J.M.
Publicerad 1990

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

av Hamosh, Ada, Sobreira, Nara, Hoover-Fong, Julie, Sutton, V Reid, Boehm, Corinne, Schiettecatte, François, Valle, David
Publicerad 2013

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

av Jurgens, Julie, Ling, Hua, Hetrick, Kurt, Pugh, Elizabeth, Schiettecatte, Francois, Doheny, Kimberly, Hamosh, Ada, Avramopoulos, Dimitri, Valle, David, Sobreira, Nara
I publikationen Genet Med (2015)

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

av Buske, Orion J., Schiettecatte, François, Hutton, Benjamin, Dumitriu, Sergiu, Misyura, Andriy, Huang, Lijia, Hartley, Taila, Girdea, Marta, Sobreira, Nara, Mungall, Chris, Brudno, Michael
I publikationen Hum Mutat (2015)

Matchmaker Exchange

av 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.
I publikationen Curr Protoc Hum Genet (2017)

The Matchmaker Exchange: A Platform for Rare Disease Gene Discovery

av 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.
I publikationen Hum Mutat (2015)