The Catalytic Site Atlas 2.0: cataloging catalytic sites and residues identified in enzymes

द्वारा Furnham, Nicholas, Holliday, Gemma L., de Beer, Tjaart A. P., Jacobsen, Julius O. B., Pearson, William R., Thornton, Janet M.
प्रकाशित 2014

An Improved Phenotype-Driven Tool for Rare Mendelian Variant Prioritization: Benchmarking Exomiser on Real Patient Whole-Exome Data

द्वारा Cipriani, Valentina, Pontikos, Nikolas, Arno, Gavin, Sergouniotis, Panagiotis I., Lenassi, Eva, Thawong, Penpitcha, Danis, Daniel, Michaelides, Michel, Webster, Andrew R., Moore, Anthony T., Robinson, Peter N., Jacobsen, Julius O.B., Smedley, Damian
में प्रकाशित Genes (Basel) (2020)

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

द्वारा 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
में प्रकाशित Nat Protoc (2015)

Matchmaker Exchange

द्वारा 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.
में प्रकाशित Curr Protoc Hum Genet (2017)

matchbox: An open-source tool for patient matching via the Matchmaker Exchange

द्वारा Arachchi, Harindra, Wojcik, Monica H, Weisburd, Benjamin, Jacobsen, Julius O. B., Valkanas, Elise, Baxter, Samantha, Byrne, Alicia B., O’Donnell-Luria, Anne H., Haendel, Melissa, Smedley, Damian, MacArthur, Daniel G., Philippakis, Anthony A., Rehm, Heidi L.
में प्रकाशित Hum Mutat (2018)

A Whole-Genome Analysis Framework for Effective Identification of Pathogenic Regulatory Variants in Mendelian Disease

द्वारा Smedley, Damian, Schubach, Max, Jacobsen, Julius O.B., Köhler, Sebastian, Zemojtel, Tomasz, Spielmann, Malte, Jäger, Marten, Hochheiser, Harry, Washington, Nicole L., McMurry, Julie A., Haendel, Melissa A., Mungall, Christopher J., Lewis, Suzanna E., Groza, Tudor, Valentini, Giorgio, Robinson, Peter N.
में प्रकाशित Am J Hum Genet (2016)

Interpretable Clinical Genomics with a Likelihood Ratio Paradigm

द्वारा Robinson, Peter N., Ravanmehr, Vida, Jacobsen, Julius O.B., Danis, Daniel, Zhang, Xingmin Aaron, Carmody, Leigh C., Gargano, Michael A., Thaxton, Courtney L., Karlebach, Guy, Reese, Justin, Holtgrewe, Manuel, Köhler, Sebastian, McMurry, Julie A., Haendel, Melissa A., Smedley, Damian
में प्रकाशित Am J Hum Genet (2020)

A mouse informatics platform for phenotypic and translational discovery

द्वारा Ring, Natalie, Meehan, Terrence F., Blake, Andrew, Brown, James, Chen, Chao-Kung, Conte, Nathalie, Di Fenza, Armida, Fiegel, Tanja, Horner, Neil, Jacobsen, Julius O. B., Karp, Natasha, Lawson, Thomas, Mason, Jeremy C., Matthews, Peter, Morgan, Hugh, Relac, Mike, Santos, Luis, Smedley, Damian, Sneddon, Duncan, Pengelly, Alice, Tudose, Ilinca, Warren, Jonathan W. G., Westerberg, Henrik, Yaikhom, Gagarine, Parkinson, Helen, Mallon, Ann-Marie
में प्रकाशित Mamm Genome (2015)

The Monarch Initiative: an integrative data and analytic platform connecting phenotypes to genotypes across species

द्वारा Mungall, Christopher J., McMurry, Julie A., Köhler, Sebastian, Balhoff, James P., Borromeo, Charles, Brush, Matthew, Carbon, Seth, Conlin, Tom, Dunn, Nathan, Engelstad, Mark, Foster, Erin, Gourdine, J.P., Jacobsen, Julius O.B., Keith, Dan, Laraway, Bryan, Lewis, Suzanna E., NguyenXuan, Jeremy, Shefchek, Kent, Vasilevsky, Nicole, Yuan, Zhou, Washington, Nicole, Hochheiser, Harry, Groza, Tudor, Smedley, Damian, Robinson, Peter N., Haendel, Melissa A.
में प्रकाशित Nucleic Acids Res (2017)

Navigating the Phenotype Frontier: The Monarch Initiative

द्वारा McMurry, Julie A., Köhler, Sebastian, Washington, Nicole L., Balhoff, James P., Borromeo, Charles, Brush, Matthew, Carbon, Seth, Conlin, Tom, Dunn, Nathan, Engelstad, Mark, Foster, Erin, Gourdine, Jean-Philippe, Jacobsen, Julius O.B., Keith, Daniel, Laraway, Bryan, Xuan, Jeremy Nguyen, Shefchek, Kent, Vasilevsky, Nicole A., Yuan, Zhou, Lewis, Suzanna E., Hochheiser, Harry, Groza, Tudor, Smedley, Damian, Robinson, Peter N., Mungall, Christopher J., Haendel, Melissa A.
में प्रकाशित Genetics (2016)

The Monarch Initiative in 2019: an integrative data and analytic platform connecting phenotypes to genotypes across species

द्वारा Shefchek, Kent A, Harris, Nomi L, Gargano, Michael, Matentzoglu, Nicolas, Unni, Deepak, Brush, Matthew, Keith, Daniel, Conlin, Tom, Vasilevsky, Nicole, Zhang, Xingmin Aaron, Balhoff, James P, Babb, Larry, Bello, Susan M, Blau, Hannah, Bradford, Yvonne, Carbon, Seth, Carmody, Leigh, Chan, Lauren E, Cipriani, Valentina, Cuzick, Alayne, Della Rocca, Maria, Dunn, Nathan, Essaid, Shahim, Fey, Petra, Grove, Chris, Gourdine, Jean-Phillipe, Hamosh, Ada, Harris, Midori, Helbig, Ingo, Hoatlin, Maureen, Joachimiak, Marcin, Jupp, Simon, Lett, Kenneth B, Lewis, Suzanna E, McNamara, Craig, Pendlington, Zoë M, Pilgrim, Clare, Putman, Tim, Ravanmehr, Vida, Reese, Justin, Riggs, Erin, Robb, Sofia, Roncaglia, Paola, Seager, James, Segerdell, Erik, Similuk, Morgan, Storm, Andrea L, Thaxon, Courtney, Thessen, Anne, Jacobsen, Julius O B, McMurry, Julie A, Groza, Tudor, Köhler, Sebastian, Smedley, Damian, Robinson, Peter N, Mungall, Christopher J, Haendel, Melissa A, Munoz-Torres, Monica C, Osumi-Sutherland, David
में प्रकाशित Nucleic Acids Res (2020)

The Human Phenotype Ontology in 2017

द्वारा 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.
में प्रकाशित Nucleic Acids Res (2017)

Expansion of the Human Phenotype Ontology (HPO) knowledge base and resources

द्वारा Köhler, Sebastian, Carmody, Leigh, Vasilevsky, Nicole, Jacobsen, Julius O B, Danis, Daniel, Gourdine, Jean-Philippe, Gargano, Michael, Harris, Nomi L, Matentzoglu, Nicolas, McMurry, Julie A, Osumi-Sutherland, David, Cipriani, Valentina, Balhoff, James P, Conlin, Tom, Blau, Hannah, Baynam, Gareth, Palmer, Richard, Gratian, Dylan, Dawkins, Hugh, Segal, Michael, Jansen, Anna C, Muaz, Ahmed, Chang, Willie H, Bergerson, Jenna, Laulederkind, Stanley J F, Yüksel, Zafer, Beltran, Sergi, Freeman, Alexandra F, Sergouniotis, Panagiotis I, Durkin, Daniel, Storm, Andrea L, Hanauer, Marc, Brudno, Michael, Bello, Susan M, Sincan, Murat, Rageth, Kayli, Wheeler, Matthew T, Oegema, Renske, Lourghi, Halima, Della Rocca, Maria G, Thompson, Rachel, Castellanos, Francisco, Priest, James, Cunningham-Rundles, Charlotte, Hegde, Ayushi, Lovering, Ruth C, Hajek, Catherine, Olry, Annie, Notarangelo, Luigi, Similuk, Morgan, Zhang, Xingmin A, Gómez-Andrés, David, Lochmüller, Hanns, Dollfus, Hélène, Rosenzweig, Sergio, Marwaha, Shruti, Rath, Ana, Sullivan, Kathleen, Smith, Cynthia, Milner, Joshua D, Leroux, Dorothée, Boerkoel, Cornelius F, Klion, Amy, Carter, Melody C, Groza, Tudor, Smedley, Damian, Haendel, Melissa A, Mungall, Chris, Robinson, Peter N
में प्रकाशित Nucleic Acids Res (2019)