Back-translation for discovering distant protein homologies in the presence of frameshift mutations

Por Gîrdea, Marta, Noé, Laurent, Kucherov, Gregory
Publicado em 2010

Designing Efficient Spaced Seeds for SOLiD Read Mapping

Por Noé, Laurent, Gîrdea, Marta, Kucherov, Gregory
Publicado em 2010

Prioritizing Clinically Relevant Copy Number Variation from Genetic Interactions and Gene Function Data

Por Foong, Justin, Girdea, Marta, Stavropoulos, James, Brudno, Michael
Publicado no PLoS One (2015)

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

Por Buske, Orion J., Schiettecatte, François, Hutton, Benjamin, Dumitriu, Sergiu, Misyura, Andriy, Huang, Lijia, Hartley, Taila, Girdea, Marta, Sobreira, Nara, Mungall, Chris, Brudno, Michael
Publicado no Hum Mutat (2015)

Care and cost consequences of pediatric whole genome sequencing compared to chromosome microarray

Por Hayeems, Robin Z., Bhawra, Jasmin, Tsiplova, Kate, Meyn, M. Stephen, Monfared, Nasim, Bowdin, Sarah, Stavropoulos, D. James, Marshall, Christian R., Basran, Raveen, Shuman, Cheryl, Ito, Shinya, Cohn, Iris, Hum, Courtney, Girdea, Marta, Brudno, Michael, Cohn, Ronald D., Scherer, Stephen W., Ungar, Wendy J.
Publicado no Eur J Hum Genet (2017)

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

Por 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
Publicado no Hum Mutat (2015)

Distributed Cognition and Process Management Enabling Individualized Translational Research: The NIH Undiagnosed Diseases Program Experience

Por Links, Amanda E., Draper, David, Lee, Elizabeth, Guzman, Jessica, Valivullah, Zaheer, Maduro, Valerie, Lebedev, Vlad, Didenko, Maxim, Tomlin, Garrick, Brudno, Michael, Girdea, Marta, Dumitriu, Sergiu, Haendel, Melissa A., Mungall, Christopher J., Smedley, Damian, Hochheiser, Harry, Arnold, Andrew M., Coessens, Bert, Verhoeven, Steven, Bone, William, Adams, David, Boerkoel, Cornelius F., Gahl, William A., Sincan, Murat
Publicado no Front Med (Lausanne) (2016)

Getting Ready for the Human Phenome Project: The 2012 Forum of the Human Variome Project

Por Oetting, William S., Robinson, Peter N., Greenblatt, Marc S., Cotton, Richard G., Beck, Tim, Carey, John C., Doelken, Sandra C., Girdea, Marta, Groza, Tudor, Hamilton, Carol M., Hamosh, Ada, Kerner, Berit, MacArthur, Jacqueline A. L., Maglott, Donna R., Mons, Barend, Rehm, Heidi L., Schofield, Paul N., Searle, Beverly A., Smedley, Damian, Smith, Cynthia L., Bernstein, Inge Thomsen, Zankl, Andreas, Zhao, Eric Y.
Publicado em 2013

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

Por 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
Publicado no Genet Med (2016)

The Matchmaker Exchange: A Platform for Rare Disease Gene Discovery

Por 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.
Publicado no Hum Mutat (2015)

The Human Phenotype Ontology project: linking molecular biology and disease through phenotype data

Por Köhler, Sebastian, Doelken, Sandra C., Mungall, Christopher J., Bauer, Sebastian, Firth, Helen V., Bailleul-Forestier, Isabelle, Black, Graeme C. M., Brown, Danielle L., Brudno, Michael, Campbell, Jennifer, FitzPatrick, David R., Eppig, Janan T., Jackson, Andrew P., Freson, Kathleen, Girdea, Marta, Helbig, Ingo, Hurst, Jane A., Jähn, Johanna, Jackson, Laird G., Kelly, Anne M., Ledbetter, David H., Mansour, Sahar, Martin, Christa L., Moss, Celia, Mumford, Andrew, Ouwehand, Willem H., Park, Soo-Mi, Riggs, Erin Rooney, Scott, Richard H., Sisodiya, Sanjay, Vooren, Steven Van, Wapner, Ronald J., Wilkie, Andrew O. M., Wright, Caroline F., Vulto-van Silfhout, Anneke T., de Leeuw, Nicole, de Vries, Bert B. A., Washingthon, Nicole L., Smith, Cynthia L., Westerfield, Monte, Schofield, Paul, Ruef, Barbara J., Gkoutos, Georgios V., Haendel, Melissa, Smedley, Damian, Lewis, Suzanna E., Robinson, Peter N.
Publicado em 2014

Whole-genome sequencing expands diagnostic utility and improves clinical management in paediatric medicine

Por Stavropoulos, Dimitri J, Merico, Daniele, Jobling, Rebekah, Bowdin, Sarah, Monfared, Nasim, Thiruvahindrapuram, Bhooma, Nalpathamkalam, Thomas, Pellecchia, Giovanna, Yuen, Ryan K C, Szego, Michael J, Hayeems, Robin Z, Shaul, Randi Zlotnik, Brudno, Michael, Girdea, Marta, Frey, Brendan, Alipanahi, Babak, Ahmed, Sohnee, Babul-Hirji, Riyana, Porras, Ramses Badilla, Carter, Melissa T, Chad, Lauren, Chaudhry, Ayeshah, Chitayat, David, Doust, Soghra Jougheh, Cytrynbaum, Cheryl, Dupuis, Lucie, Ejaz, Resham, Fishman, Leona, Guerin, Andrea, Hashemi, Bita, Helal, Mayada, Hewson, Stacy, Inbar-Feigenberg, Michal, Kannu, Peter, Karp, Natalya, Kim, Raymond H, Kronick, Jonathan, Liston, Eriskay, MacDonald, Heather, Mercimek-Mahmutoglu, Saadet, Mendoza-Londono, Roberto, Nasr, Enas, Nimmo, Graeme, Parkinson, Nicole, Quercia, Nada, Raiman, Julian, Roifman, Maian, Schulze, Andreas, Shugar, Andrea, Shuman, Cheryl, Sinajon, Pierre, Siriwardena, Komudi, Weksberg, Rosanna, Yoon, Grace, Carew, Chris, Erickson, Raith, Leach, Richard A, Klein, Robert, Ray, Peter N, Meyn, M Stephen, Scherer, Stephen W, Cohn, Ronald D, Marshall, Christian R
Publicado no NPJ Genom Med (2016)