The Genomedata format for storing large-scale functional genomics data

od Hoffman, Michael M., Buske, Orion J., Noble, William Stafford
Wydane 2010

PubCaseFinder: A Case-Report-Based, Phenotype-Driven Differential-Diagnosis System for Rare Diseases

od Fujiwara, Toyofumi, Yamamoto, Yasunori, Kim, Jin-Dong, Buske, Orion, Takagi, Toshihisa
Wydane w Am J Hum Genet (2018)

Exploratory analysis of genomic segmentations with Segtools

od Buske Orion J, Hoffman Michael M, Ponts Nadia, Le Roch Karine G, Noble William
Wydane 2011-10-01

Exploratory analysis of genomic segmentations with Segtools

od Buske, Orion J, Hoffman, Michael M, Ponts, Nadia, Le Roch, Karine G, Noble, William Stafford
Wydane 2011

Unsupervised pattern discovery in human chromatin structure through genomic segmentation

od Hoffman, Michael M., Buske, Orion J., Wang, Jie, Weng, Zhiping, Bilmes, Jeff A., Noble, William Stafford
Wydane 2012

Variant detection and the Autism sequencing project

od Buske, Orion, Dzamba, Misko, Foong, Justin, Lau, Lynette, Fiume, Marc, Marshall, Christian, Walker, Susan, Prasad, Aparna, Brudno, Michael
Wydane 2011

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

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

iReckon: Simultaneous isoform discovery and abundance estimation from RNA-seq data

od Mezlini, Aziz M., Smith, Eric J.M., Fiume, Marc, Buske, Orion, Savich, Gleb L., Shah, Sohrab, Aparicio, Sam, Chiang, Derek Y., Goldenberg, Anna, Brudno, Michael
Wydane 2013

Next-generation diagnostics and disease-gene discovery with the Exomiser

od Smedley, Damian, Jacobsen, Julius O B, Jager, Marten, Köhler, Sebastian, Holtgrewe, Manuel, Schubach, Max, Siragusa, Enrico, Zemojtel, Tomasz, Buske, Orion J, Washington, Nicole L, Bone, William P, Haendel, Melissa A, Robinson, Peter N
Wydane w Nat Protoc (2015)

Matchmaker Exchange

od 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.
Wydane w Curr Protoc Hum Genet (2017)

Encoding Clinical Data with the Human Phenotype Ontology for Computational Differential Diagnostics

od Köhler, Sebastian, Øien, N. Christine, Buske, Orion J, Groza, Tudor, Jacobsen, Julius OB, McNamara, Craig, Vasilevsky, Nicole, Carmody, Leigh C, Gourdine, JP, Gargano, Michael, McMurry, Julie, Danis, Daniel, Mungall, Christopher J, Smedley, Damian, Haendel, Melissa, Robinson, Peter N
Wydane w Curr Protoc Hum Genet (2019)

Lactase non-persistence is directed by DNA variation-dependent epigenetic aging

od Labrie, Viviane, Buske, Orion J, Oh, Edward, Jeremian, Richie, Ptak, Carolyn, Gasiūnas, Giedrius, Maleckas, Almantas, Petereit, Rūta, Žvirbliene, Aida, Adamonis, Kęstutis, Kriukienė, Edita, Koncevičius, Karolis, Gordevičius, Juozas, Nair, Akhil, Zhang, Aiping, Ebrahimi, Sasha, Oh, Gabriel, Šikšnys, Virginijus, Kupčinskas, Limas, Brudno, Michael, Petronis, Arturas
Wydane w Nat Struct Mol Biol (2016)

PhenomeCentral: A Portal for Phenotypic and Genotypic Matchmaking of Patients with Rare Genetic Diseases

od Buske, Orion J., Girdea, Marta, Dumitriu, Sergiu, Gallinger, Bailey, Hartley, Taila, Trang, Heather, Misyura, Andriy, Friedman, Tal, Beaulieu, Chandree, Bone, William P., Links, Amanda E., Washington, Nicole L., Haendel, Melissa A., Robinson, Peter N., Boerkoel, Cornelius F., Adams, David, Gahl, William A., Boycott, Kym M., Brudno, Michael
Wydane w Hum Mutat (2015)

Computational evaluation of exome sequence data using human and model organism phenotypes improves diagnostic efficiency

od Bone, William P., Washington, Nicole L., Buske, Orion J., Adams, David R., Davis, Joie, Draper, David, Flynn, Elise D., Girdea, Marta, Godfrey, Rena, Golas, Gretchen, Groden, Catherine, Jacobsen, Julius, Köhler, Sebastian, Lee, Elizabeth M. J., Links, Amanda E., Markello, Thomas C., Mungall, Christopher J., Nehrebecky, Michele, Robinson, Peter N., Sincan, Murat, Soldatos, Ariane G., Tifft, Cynthia J., Toro, Camilo, Trang, Heather, Valkanas, Elise, Vasilevsky, Nicole, Wahl, Colleen, Wolfe, Lynne A., Boerkoel, Cornelius F., Brudno, Michael, Haendel, Melissa A., Gahl, William A., Smedley, Damian
Wydane w Genet Med (2016)

The Matchmaker Exchange: A Platform for Rare Disease Gene Discovery

od 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.
Wydane w Hum Mutat (2015)

The Human Phenotype Ontology in 2017

od Köhler, Sebastian, Vasilevsky, Nicole A., Engelstad, Mark, Foster, Erin, McMurry, Julie, Aymé, Ségolène, Baynam, Gareth, Bello, Susan M., Boerkoel, Cornelius F., Boycott, Kym M., Brudno, Michael, Buske, Orion J., Chinnery, Patrick F., Cipriani, Valentina, Connell, Laureen E., Dawkins, Hugh J.S., DeMare, Laura E., Devereau, Andrew D., de Vries, Bert B.A., Firth, Helen V., Freson, Kathleen, Greene, Daniel, Hamosh, Ada, Helbig, Ingo, Hum, Courtney, Jähn, Johanna A., James, Roger, Krause, Roland, F. Laulederkind, Stanley J., Lochmüller, Hanns, Lyon, Gholson J., Ogishima, Soichi, Olry, Annie, Ouwehand, Willem H., Pontikos, Nikolas, Rath, Ana, Schaefer, Franz, Scott, Richard H., Segal, Michael, Sergouniotis, Panagiotis I., Sever, Richard, Smith, Cynthia L., Straub, Volker, Thompson, Rachel, Turner, Catherine, Turro, Ernest, Veltman, Marijcke W.M., Vulliamy, Tom, Yu, Jing, von Ziegenweidt, Julie, Zankl, Andreas, Züchner, Stephan, Zemojtel, Tomasz, Jacobsen, Julius O.B., Groza, Tudor, Smedley, Damian, Mungall, Christopher J., Haendel, Melissa, Robinson, Peter N.
Wydane w Nucleic Acids Res (2017)