학술논문
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1~10
Academic Journal
Stefanucci, Luca; Collins, Janine; Sims, Matthew C.; Barrio-Hernandez, Inigo; Sun, Luanluan; Burren, Oliver S.; Perfetto, Livia; Bender, Isobel; Callahan, Tiffany J.; Fleming, Kathryn; Guerrero, Jose A.; Hermjakob, Henning; Martin, Maria J.; Stephenson, James; Paneerselvam, Kalpana; Petrovski, Slavé; Porras, Pablo; Robinson, Peter N.; Wang, Quanli; Watkins, Xavier; Frontini, Mattia; Laskowski, Roman A.; Beltrao, Pedro; Di Angelantonio, Emanuele; Gomez, Keith; Laffan, Mike; Ouwehand, Willem H.; Mumford, Andrew D.; Freson, Kathleen; Carss, Keren; Downes, Kate; Gleadall, Nick; Megy, Karyn; Bruford, Elspeth; Vuckovic, Dragana
In Blood 14 December 2023 142(24):2055-2068
Academic Journal
DiStefano, Marina; Alkuraya, Fowzan; Amberger, Joanna; Austin-Tse, Christina; Austine, Ola; Balzotti, Marie; Berg, Jonathan; Bruford, Elspeth; Byrne, Alicia; Cibrian-Uhalte, Elena; Coffey, Alison; Firth, Helen; Hamosh, Ada; Hunt, Sarah; Klein, Teri; Kurtz, Catherine; Leigh, Sarah; Leong, Ivone; Lucano, Caterina; Maddirevula, Sateesh; O'Neill, Audrey; Puzriakova, Arina; Rath, Ana; Roberts, Angharad; Radtke, Kelly; Ramos, Erin; Riggs, Erin; Rodwell, Charlotte; Taylor, Julie; Sangkuhl, Katrin; Snow, Catherine; Stark, Zornitza; Ware, James; Wayburn, Bess; Weller, Phillip; Rehm, Heidi
In Genetics in Medicine Open 2024 2 Supplement 1
Academic Journal
Mudge, Jonathan M; Ruiz-Orera, Jorge; Prensner, John R; Brunet, Marie A; Calvet, Ferriol; Jungreis, Irwin; Gonzalez, Jose Manuel; Magrane, Michele; Martinez, Thomas F; Schulz, Jana Felicitas; Yang, Yucheng T; Albà, M Mar; Aspden, Julie L; Baranov, Pavel V; Bazzini, Ariel A; Bruford, Elspeth; Martin, Maria Jesus; Calviello, Lorenzo; Carvunis, Anne-Ruxandra; Chen, Jin; Couso, Juan Pablo; Deutsch, Eric W; Flicek, Paul; Frankish, Adam; Gerstein, Mark; Hubner, Norbert; Ingolia, Nicholas T; Kellis, Manolis; Menschaert, Gerben; Moritz, Robert L; Ohler, Uwe; Roucou, Xavier; Saghatelian, Alan; Weissman, Jonathan S; van Heesch, Sebastiaan
Nature Biotechnology. 40(7)
P451: The Gene Curation Coalition works to resolve discrepancies in gene-disease validity assertions
Academic Journal
DiStefano, Marina; Amberger, Joanna; Austin-Tse, Christina; Balzotti, Marie; Amin, Mutaz; Berg, Jonathan; Bocchini, Carol; Bruford, Elspeth; Alkuraya, Fowzan; Coffey, Alison; Collins, Heather; Cunningham, Fiona; Firth, Helen; Fitzpatrick, David; Einhorn, Yaron; Goldstein, Jennifer; Hamosh, Ada; Leigh, Sarah; Leong, Ivone; Martin, Christa; McDonagh, Ellen; Puzriakova, Arina; Rath, Ana; Roberts, Angharad; Radtke, Kelly; Ramos, Erin; Riggs, Erin; Rodwell, Charlotte; Sangkuhl, Katrin; Snow, Catherine; Stark, Zornitza; Tahiliani, Jackie; Ware, James; Williams, Eleanor; Wright, Caroline; Yates, Michael; Weller, Phillip; Rehm, Heidi
In Genetics in Medicine Open 2023 1(1) Supplement
Academic Journal
Consortium, RNAcentral; Sweeney, Blake A; Petrov, Anton I; Ribas, Carlos E; Finn, Robert D; Bateman, Alex; Szymanski, Maciej; Karlowski, Wojciech M; Seemann, Stefan E; Gorodkin, Jan; Cannone, Jamie J; Gutell, Robin R; Kay, Simon; Marygold, Steven; dos Santos, Gil; Frankish, Adam; Mudge, Jonathan M; Barshir, Ruth; Fishilevich, Simon; Chan, Patricia P; Lowe, Todd M; Seal, Ruth; Bruford, Elspeth; Panni, Simona; Porras, Pablo; Karagkouni, Dimitra; Hatzigeorgiou, Artemis G; Ma, Lina; Zhang, Zhang; Volders, Pieter-Jan; Mestdagh, Pieter; Griffiths-Jones, Sam; Fromm, Bastian; Peterson, Kevin J; Kalvari, Ioanna; Nawrocki, Eric P; Petrov, Anton S; Weng, Shuai; Bouchard-Bourelle, Philia; Scott, Michelle; Lui, Lauren M; Hoksza, David; Lovering, Ruth C; Kramarz, Barbara; Mani, Prita; Ramachandran, Sridhar; Weinberg, Zasha
Nucleic Acids Research. 49(D1)
Periodical
Leukemia; 20240101, Issue: Preprints p1-3, 3p
Academic Journal
Academic Journal
Sweeney, Blake A; Petrov, Anton I; Burkov, Boris; Finn, Robert D; Bateman, Alex; Szymanski, Maciej; Karlowski, Wojciech M; Gorodkin, Jan; Seemann, Stefan E; Cannone, Jamie J; Gutell, Robin R; Fey, Petra; Basu, Siddhartha; Kay, Simon; Cochrane, Guy; Billis, Kostantinos; Emmert, David; Marygold, Steven J; Huntley, Rachael P; Lovering, Ruth C; Frankish, Adam; Chan, Patricia P; Lowe, Todd M; Bruford, Elspeth; Seal, Ruth; Vandesompele, Jo; Volders, Pieter-Jan; Paraskevopoulou, Maria; Ma, Lina; Zhang, Zhang; Griffiths-Jones, Sam; Bujnicki, Janusz M; Boccaletto, Pietro; Blake, Judith A; Bult, Carol J; Chen, Runsheng; Zhao, Yi; Wood, Valerie; Rutherford, Kim; Rivas, Elena; Cole, James; Laulederkind, Stanley JF; Shimoyama, Mary; Gillespie, Marc E; Orlic-Milacic, Marija; Kalvari, Ioanna; Nawrocki, Eric; Engel, Stacia R; Cherry, J Michael; Team, SILVA; Berardini, Tanya Z; Hatzigeorgiou, Artemis; Karagkouni, Dimitra; Howe, Kevin; Davis, Paul; Dinger, Marcel; He, Shunmin; Yoshihama, Maki; Kenmochi, Naoya; Stadler, Peter F; Williams, Kelly P
Nucleic Acids Research. 47(Database issue)
Nevers, Yannis; Jones, Tamsin E. M.; Jyothi, Dushyanth; Yates, Bethan; Ferret, Meritxell; Portell-Silva, Laura; Codo, Laia; Cosentino, Salvatore; Marcet-Houben, Marina; Vlasova, Anna; Poidevin, Laetitia; Kress, Arnaud; Hickman, Mark; Persson, Emma, 1991; Piližota, Ivana; Guijarro-Clarke, Cristina; Iwasaki, Wataru; Lecompte, Odile; Sonnhammer, Erik; Roos, David S.; Gabaldón, Toni; Thybert, David; Thomas, Paul D.; Hu, Yanhui; Emms, David M.; Bruford, Elspeth; Capella-Gutierrez, Salvador; Martin, Maria J.; Dessimoz, Christophe; Altenhoff, Adrian
Nucleic Acids Research. 50(W1):W623-W632
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