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

由 Sobreira, Nara, Schiettecatte, François, Valle, David, Hamosh, Ada
發表在 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

由 Sobreira, Nara, Schiettecatte, François, Boehm, Corinne, Valle, David, Hamosh, Ada
發表在 Hum Mutat (2015)

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

由 Amberger, Joanna S., Bocchini, Carol A., Schiettecatte, François, Scott, Alan F., Hamosh, Ada
發表在 Nucleic Acids Res (2014)

The Genome Data Base (GDB)

由 Brunn, Christopher W., Cartwright, Peter E., Marquette, David M., Schiettecatte, Francois J.M.
出版 1990

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

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

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

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

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

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

Matchmaker Exchange

由 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.
發表在 Curr Protoc Hum Genet (2017)

The Matchmaker Exchange: A Platform for Rare Disease Gene Discovery

由 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.
發表在 Hum Mutat (2015)