المؤلفون: 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 OM, 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

المصدر: Human Mutation. 36(10)

مصطلحات موضوعية: Biological Sciences, Genetics, Rare Diseases, Database Management Systems, Databases, Genetic, Genetic Association Studies, Genetic Predisposition to Disease, Humans, Information Dissemination, Software, matchmaking, rare disease, genomic API, gene discovery, Matchmaker Exchange, GA4GH, IRDiRC, Clinical Sciences, Genetics & Heredity, Clinical sciences

URL الوصول: https://escholarship.org/uc/item/2mv1v458

المؤلفون: Applegate, Carolyn D., Schiettecatte, François, Hamosh, Ada, Amberger, Joanna S.

المصدر: Current Protocols ; volume 2, issue 9 ; ISSN 2691-1299 2691-1299

الاتاحة: http://dx.doi.org/10.1002/cpz1.530
https://onlinelibrary.wiley.com/doi/pdf/10.1002/cpz1.530
https://onlinelibrary.wiley.com/doi/full-xml/10.1002/cpz1.530
https://currentprotocols.onlinelibrary.wiley.com/doi/pdf/10.1002/cpz1.530

المؤلفون: 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, Francois, Sobreira, Nara L., Swaminathan, Ganesh J., Taschner, Peter E., Terry, Sharon F., Washington, Nicole L., Zuechner, Stephan, Boycott, Kym M., Rehm, Heidi L.

المصدر: Philippakis , A A , Azzariti , D R , Beltran , S , Brookes , A J , Brownstein , C A , Brudno , M , Brunner , H G , Buske , O J , Carey , K , Doll , C , Dumitriu , S , Dyke , S O M , den Dunnen , J T , Firth , H V , Gibbs , R A , Girdea , M , Gonzalez , M , Haendel , M A , Hamosh , A , Holm , I A , Huang , L , Hurles ....

مصطلحات موضوعية: matchmaking, rare disease, genomic API, gene discovery, Matchmaker Exchange, GA4GH, IRDiRC

الاتاحة: https://cris.maastrichtuniversity.nl/en/publications/9b40684c-cf22-47a2-b4d6-aa0c7247f9db
https://doi.org/10.1002/humu.22858

المؤلفون: Jurgens, Julie, Ling, Hua, Hetrick, Kurt, Pugh, Elizabeth, Schiettecatte, Francois, Doheny, Kimberly, Hamosh, Ada, Avramopoulos, Dimitri, Valle, David, Sobreira, Nara

المصدر: Genetics in Medicine ; volume 17, issue 10, page 782-788 ; ISSN 1098-3600

الاتاحة: http://dx.doi.org/10.1038/gim.2014.196
http://www.nature.com/articles/gim2014196.pdf
http://www.nature.com/articles/gim2014196
https://api.elsevier.com/content/article/PII:S1098360021031609?httpAccept=text/xml
https://api.elsevier.com/content/article/PII:S1098360021031609?httpAccept=text/plain

المؤلفون: Amberger, Joanna S., Bocchini, Carol A., Schiettecatte, François, Scott, Alan F., Hamosh, Ada

المصدر: Nucleic Acids Research ; volume 43, issue D1, page D789-D798 ; ISSN 1362-4962 0305-1048

الاتاحة: https://doi.org/10.1093/nar/gku1205
http://academic.oup.com/nar/article-pdf/43/D1/D789/7329486/gku1205.pdf

المؤلفون: Franois Schiettecatte Francois

المساهمون: The Pennsylvania State University CiteSeerX Archives

المصدر: http://www.fsconsult.com/presentations/trec5/trec5-paper.pdf.

وصف الملف: application/pdf

Relation: http://citeseerx.ist.psu.edu/viewdoc/summary?doi=10.1.1.33.107; http://www.fsconsult.com/presentations/trec5/trec5-paper.pdf

الاتاحة: http://citeseerx.ist.psu.edu/viewdoc/summary?doi=10.1.1.33.107
http://www.fsconsult.com/presentations/trec5/trec5-paper.pdf

المؤلفون: Franois Schiettecatte Francois

المساهمون: The Pennsylvania State University CiteSeerX Archives

المصدر: http://www.fsconsult.com/presentations/trec6/trec6-paper.pdf.

وصف الملف: application/pdf

Relation: http://citeseerx.ist.psu.edu/viewdoc/summary?doi=10.1.1.33.1051; http://www.fsconsult.com/presentations/trec6/trec6-paper.pdf

الاتاحة: http://citeseerx.ist.psu.edu/viewdoc/summary?doi=10.1.1.33.1051
http://www.fsconsult.com/presentations/trec6/trec6-paper.pdf

المؤلفون: 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.

المصدر: Current Protocols in Human Genetics ; volume 95, issue 1 ; ISSN 1934-8266 1934-8258

الاتاحة: http://dx.doi.org/10.1002/cphg.50
https://api.wiley.com/onlinelibrary/tdm/v1/articles/10.1002%2Fcphg.50
https://onlinelibrary.wiley.com/doi/pdf/10.1002/cphg.50
https://onlinelibrary.wiley.com/doi/full-xml/10.1002/cphg.50
https://currentprotocols.onlinelibrary.wiley.com/doi/pdf/10.1002/cphg.50

المؤلفون: Buske, Orion J., Schiettecatte, François, Hutton, Benjamin, Dumitriu, Sergiu, Misyura, Andriy, Huang, Lijia, Hartley, Taila, Girdea, Marta, Sobreira, Nara, Mungall, Chris, Brudno, Michael

المصدر: Human Mutation; Oct2015, Vol. 36 Issue 10, p922-927, 6p

المؤلفون: Sobreira, Nara, Schiettecatte, François, Boehm, Corinne, Valle, David, Hamosh, Ada

المصدر: Human Mutation; Apr2015, Vol. 36 Issue 4, p425-431, 7p

المؤلفون: Hamosh, Ada, Sobreira, Nara, Hoover‐Fong, Julie, Sutton, V. Reid, Boehm, Corinne, Schiettecatte, François, Valle, David

المصدر: Human Mutation; Apr2013, Vol. 34 Issue 4, p566-571, 6p

المؤلفون: Sobreira, Nara, Schiettecatte, François, Valle, David, Hamosh, Ada

المصدر: Human Mutation; Oct2015, Vol. 36 Issue 10, p928-930, 3p

المؤلفون: Amberger, Joanna S., Bocchini, Carol A., Schiettecatte, François, Scott, Alan F., Hamosh, Ada

المصدر: Nucleic Acids Research; Jan2015, Vol. 43 Issue D1, pD789-D798, 1p