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A systematic assessment of large language models' knowledge of rare diseases: How much do large language models know about rare disease? Groza, Tudor; Marcello, Allison J.; Carlisle, Tristan; Lim, Weng Khong; Haendel, Melissa; Karnani, Neerja; Robinson, Peter N.; Graessner, Holm; Chong, Jessica X.; Baynam, Gareth; Jamuar, Saumya Shekhar Share Save
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A corpus of GA4GH phenopackets: Case-level phenotyping for genomic diagnostics and discovery Danis, Daniel; Bamshad, Michael J.; Bridges, Yasemin; Caballero-Oteyza, Andres; Cacheiro, Pilar; Carmody, Leigh C.; Chimirri, Leonardo; Chong, Jessica X.; Coleman, Ben; Dalgleish, Raymond; Freeman, Peter J.; Graefe, Adam S. L.; Groza, Tudor; Hansen, Peter; Jacobsen, Julius O. B.; Klocperk, Adam; Kusters, Maaike; Ladewig, Markus S.; Marcello, Allison J.; Mattina, Teresa; Mungall, Christopher J.; Munoz-Torres, Monica C.; Reese, Justin T.; Rehburg, Filip; Reis, Barbara C. S.; Schuetz, Catharina; Smedley, Damian; Strauss, Timmy; Sundaramurthi, Jagadish Chandrabose; Thun, Sylvia; Wissink, Kyran; Wagstaff, John F.; Zocche, David; Haendel, Melissa A.; Robinson, Peter N. Share Save
Leaving no patient behind! Expert recommendation in the use of innovative technologies for diagnosing rare diseases van Karnebeek, Clara D. M.; O'Donnell-Luria, Anne; Baynam, Gareth; Baudot, Anais; Groza, Tudor; Jans, Judith J. M.; Lassmann, Timo; Letinturier, Mary Catherine V.; Montgomery, Stephen B.; Robinson, Peter N.; Sansen, Stefaan; Mehrian-Shai, Ruty; Steward, Charles; Kosaki, Kenjiro; Durao, Patricia; Sadikovic, Bekim Share Save
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The Human Phenotype Ontology in 2024: phenotypes around the world Gargano, Michael A.; Matentzoglu, Nicolas; Coleman, Ben; Addo-Lartey, Eunice B.; Anagnostopoulos, Anna, V; Anderton, Joel; Avillach, Paul; Bagley, Anita M.; Bakstein, Eduard; Balhoff, James P.; Baynam, Gareth; Bello, Susan M.; Berk, Michael; Bertram, Holli; Bishop, Somer; Blau, Hannah; Bodenstein, David F.; Botas, Pablo; Boztug, Kaan; Cady, Jolana; Callahan, Tiffany J.; Cameron, Rhiannon; Carbon, Seth J.; Castellanos, Francisco; Caufield, J. Harry; Chan, Lauren E.; Chute, Christopher G.; Cruz-Rojo, Jaime; Dahan-Oliel, Noemi; Davids, Jon R.; de Dieuleveult, Maud; de Souza, Vinicius; de Vries, Bert B. A.; de Vries, Esther; DePaulo, J. Raymond; Derfalvi, Beata; Dhombres, Ferdinand; Diaz-Byrd, Claudia; Dingemans, Alexander J. M.; Donadille, Bruno; Duyzend, Michael; Elfeky, Reem; Essaid, Shahim; Fabrizzi, Carolina; Fico, Giovanna; Firth, Helen, V; Freudenberg-Hua, Yun; Fullerton, Janice M.; Gabriel, Davera L.; Gilmour, Kimberly; Giordano, Jessica; Goes, Fernando S.; Moses, Rachel Gore; Green, Ian; Griese, Matthias; Groza, Tudor; Gu, Weihong; Guthrie, Julia; Gyori, Benjamin; Hamosh, Ada; Hanauer, Marc; Hanusova, Katerina; He, Yongqun (Oliver); Hegde, Harshad; Helbig, Ingo; Holasova, Katerina; Hoyt, Charles Tapley; Huang, Shangzhi; Hurwitz, Eric; Jacobsen, Julius O. B.; Jiang, Xiaofeng; Joseph, Lisa; Keramatian, Kamyar; King, Bryan; Knoflach, Katrin; Koolen, David A.; Kraus, Megan L.; Kroll, Carlo; Kusters, Maaike; Ladewig, Markus S.; Lagorce, David; Lai, Meng-Chuan; Lapunzina, Pablo; Laraway, Bryan; Lewis-Smith, David; Li, Xiarong; Lucano, Caterina; Majd, Marzieh; Marazita, Mary L.; Martinez-Glez, Victor; McHenry, Toby H.; McInnis, Melvin G.; McMurry, Julie A.; Mihulova, Michaela; Millett, Caitlin E.; Mitchell, Philip B.; Moslerova, Veronika; Narutomi, Kenji; Nematollahi, Shahrzad; Nevado, Julian; Nierenberg, Andrew A.; Cajbikova, Nikola Novak; Nurnberger, John I., Jr.; Ogishima, Soichi; Olson, Daniel; Ortiz, Abigail; Pachajoa, Harry; Perez de Nanclares, Guiomar; Peters, Amy; Putman, Tim; Rapp, Christina K.; Rath, Ana; Reese, Justin; Rekerle, Lauren; Roberts, Angharad M.; Roy, Suzy; Sanders, Stephan J.; Schuetz, Catharina; Schulte, Eva C.; Schulze, Thomas G.; Schwarz, Martin; Scott, Katie; Seelow, Dominik; Seitz, Berthold; Shen, Yiping; Similuk, Morgan N.; Simon, Eric S.; Singh, Balwinder; Smedley, Damian; Smith, Cynthia L.; Smolinsky, Jake T.; Sperry, Sarah; Stafford, Elizabeth; Stefancsik, Ray; Steinhaus, Robin; Strawbridge, Rebecca; Sundaramurthi, Jagadish Chandrabose; Talapova, Polina; Tenorio Castano, Jair A.; Tesner, Pavel; Thomas, Rhys H.; Thurm, Audrey; Turnovec, Marek; van Gijn, Marielle E.; Vasilevsky, Nicole A.; Vlckova, Marketa; Walden, Anita; Wang, Kai; Wapner, Ron; Ware, James S.; Wiafe, Addo A.; Wiafe, Samuel A.; Wiggins, Lisa D.; Williams, Andrew E.; Wu, Chen; Wyrwoll, Margot J.; Xiong, Hui; Yalin, Nefize; Yamamoto, Yasunori; Yatham, Lakshmi N.; Yocum, Anastasia K.; Young, Allan H.; Yueksel, Zafer; Zandi, Peter P.; Zankl, Andreas; Zarante, Ignacio; Zvolsky, Miroslav; Toro, Sabrina; Carmody, Leigh C.; Harris, Nomi L.; Munoz-Torres, Monica C.; Danis, Daniel; Mungall, Christopher J.; Koehler, Sebastian; Haendel, Melissa A.; Robinson, Peter N. Share Save
PDCM Finder: an open global research platform for patient-derived cancer models Perova, Zinaida; Martinez, Mauricio; Mandloi, Tushar; Gomez, Federico Lopez; Halmagyi, Csaba; Follette, Alex; Mason, Jeremy; Neuhauser, Steven; Begley, Dale A.; Krupke, Debra M.; Bult, Carol; Parkinson, Helen; Groza, Tudor; Almanza, Marcelo P. Rios Share Save
PDCM Finder: an open global research platform for patient-derived cancer models Perova, Zinaida; Martinez, Mauricio; Mandloi, Tushar; Gomez, Federico Lopez; Halmagyi, Csaba; Follette, Alex; Mason, Jeremy; Newhauser, Steven; Begley, Dale A.; Krupke, Debra M.; Bult, Carol; Parkinson, Helen; Groza, Tudor Share Save
The NHGRI-EBI GWAS Catalog: knowledgebase and deposition resource Sollis, Elliot; Mosaku, Abayomi; Abid, Ala; Buniello, Annalisa; Cerezo, Maria; Gil, Laurent; Groza, Tudor; Gunes, Osman; Hall, Peggy; Hayhurst, James; Ibrahim, Arwa; Ji, Yue; John, Sajo; Lewis, Elizabeth; MacArthur, Jacqueline A. L.; McMahon, Aoife; Osumi-Sutherland, David; Panoutsopoulou, Kalliope; Pendlington, Zoe; Ramachandran, Santhi; Stefancsik, Ray; Stewart, Jonathan; Whetzel, Patricia; Wilson, Robert; Hindorff, Lucia; Cunningham, Fiona; Lambert, Samuel A.; Inouye, Michael; Parkinson, Helen; Harris, Laura W. Share Save
The International Mouse Phenotyping Consortium: comprehensive knockout phenotyping underpinning the study of human disease Groza, Tudor; Gomez, Federico Lopez; Mashhadi, Hamed Haseli; Munoz-Fuentes, Violeta; Gunes, Osman; Wilson, Robert; Cacheiro, Pilar; Frost, Anthony; Keskivali-Bond, Piia; Vardal, Bora; McCoy, Aaron; Cheng, Tsz Kwan; Santos, Luis; Wells, Sara; Smedley, Damian; Mallon, Ann-Marie; Parkinson, Helen Share Save
The GA4GH Phenopacket schema defines a computable representation of clinical data Jacobsen, Julius O. B.; Baudis, Michael; Baynam, Gareth S.; Beckmann, Jacques S.; Beltran, Sergi; Buske, Orion J.; Callahan, Tiffany J.; Chute, Christopher G.; Courtot, Melanie; Danis, Daniel; Elemento, Olivier; Essenwanger, Andrea; Freimuth, Robert R.; Gargano, Michael A.; Groza, Tudor; Hamosh, Ada; Harris, Nomi L.; Kaliyaperumal, Rajaram; Lloyd, Kevin C. Kent; Khalifa, Aly; Krawitz, Peter M.; Koeler, Sebastian; Laraway, Brian J.; Lehvaslaiho, Heikki; Matalonga, Leslie; McMurry, Julie A.; Metke-Jimenez, Alejandro; Mungall, Christopher J.; Munoz-Torres, Monica C.; Ogishima, Soichi; Papakonstantinou, Anastasios; Piscia, Davide; Pontikos, Nikolas; Queralt-Rosinach, Nuria; Roos, Marco; Sass, Julian; Schofield, Paul N.; Seelow, Dominik; Siapos, Anastasios; Smedley, Damian; Smith, Lindsay D.; Steinhaus, Robin; Sundaramurthi, Jagadish Chandrabose; Swietlik, Emilia M.; Thun, Sylvia; Vasilevsky, Nicole A.; Wagner, Alex H.; Warner, Jeremy L.; Weiland, Claus; Haendel, Melissa A.; Robinson, Peter N. Share Save
GA4GH: International policies and standards for data sharing across genomic research and healthcare Rehm, Heidi L.; Page, Angela J. H.; Smith, Lindsay; Adams, Jeremy B.; Alterovitz, Gil; Babb, Lawrence J.; Barkley, Maxmillian P.; Baudis, Michael; Beauvais, Michael J. S.; Beck, Tim; Beckmann, Jacques S.; Beltran, Sergi; Bernick, David; Bernier, Alexander; Bonfield, James K.; Boughtwood, Tiffany F.; Bourque, Guillaume; Bowers, Sarion R.; Brookes, Anthony J.; Brudno, Michael; Brush, Matthew H.; Bujold, David; Burdett, Tony; Buske, Orion J.; Cabili, Moran N.; Cameron, Daniel L.; Carroll, Robert J.; Casas-Silva, Esmeralda; Chakravarty, Debyani; Chaudhari, Bimal P.; Chen, Shu Hui; Cherry, J. Michael; Chung, Justina; Cline, Melissa; Clissold, Hayley L.; Cook-Deegan, Robert M.; Courtot, Melanie; Cunningham, Fiona; Cupak, Miro; Davies, Robert M.; Denisko, Danielle; Doerr, Megan J.; Dolman, Lena I.; Dove, Edward S.; Dursi, L. Jonathan; Dyke, Stephanie O. M.; Eddy, James A.; Eilbeck, Karen; Ellrott, Kyle P.; Fairley, Susan; Fakhro, Khalid A.; Firth, Helen V.; Fitzsimons, Michael S.; Fiume, Marc; Flicek, Paul; Fore, Ian M.; Freeberg, Mallory A.; Freimuth, Robert R.; Fromont, Lauren A.; Fuerth, Jonathan; Gaff, Clara L.; Gan, Weiniu; Ghanaim, Elena M.; Glazer, David; Green, Robert C.; Griffith, Malachi; Griffith, Obi L.; Grossman, Robert L.; Groza, Tudor; Auvil, Jaime M. Guidry; Guigo, Roderic; Gupta, Dipayan; Haendel, Melissa A.; Hamosh, Ada; Hansen, David P.; Hart, Reece K.; Hartley, Dean Mitchell; Haussler, David; Hendricks-Sturrup, Rachele M.; Ho, Calvin W. L.; Hobb, Ashley E.; Hoffman, Michael M.; Hofmann, Oliver M.; Holub, Petr; Hsu, Jacob Shujui; Hubaux, Jean-Pierre; Hunt, Sarah E.; Husami, Ammar; Jacobsen, Julius O.; Jamuar, Saumya S.; Janes, Elizabeth L.; Jeanson, Francis; Jene, Aina; Johns, Amber L.; Joly, Yann; Jones, Steven J. M.; Kanitz, Alexander; Kato, Kazuto; Keane, Thomas M.; Kekesi-Lafrance, Kristina; Kelleher, Jerome; Kerry, Giselle; Khor, Seik-Soon; Knoppers, Bartha M.; Konopko, Melissa A.; Kosaki, Kenjiro; Kuba, Martin; Lawson, Jonathan; Leinonen, Rasko; Li, Stephanie; Lin, Michael F.; Linden, Mikael; Liu, Xianglin; Liyanage, Isuru Udara; Lopez, Javier; Lucassen, Anneke M.; Lukowski, Michael; Mann, Alice L.; Marshall, John; Mattioni, Michele; Metke-Jimenez, Alejandro; Middleton, Anna; Milne, Richard J.; Molnar-Gabor, Fruzsina; Mulder, Nicola; Munoz-Torres, Monica C.; Nag, Rishi; Nakagawa, Hidewaki; Nasir, Jamal; Navarro, Arcadi; Nelson, Tristan H.; Niewielska, Ania; Nisselle, Amy; Niu, Jeffrey; Nyronen, Tommi H.; O'Connor, Brian D.; Oesterle, Sabine; Ogishima, Soichi; Wang, Vivian Ota; Paglione, Laura A. D.; Palumbo, Emilio; Parkinson, Helen E.; Philippakis, Anthony A.; Pizarro, Angel D.; Prlic, Andreas; Rambla, Jordi; Rendon, Augusto; Rider, Renee A.; Robinson, Peter N.; Rodarmer, Kurt W.; Rodriguez, Laura Lyman; Rubin, Alan F.; Rueda, Manuel; Rushton, Gregory A.; Ryan, Rosalyn S.; Saunders, Gary I.; Schuilenburg, Helen; Schwede, Torsten; Scollen, Serena; Senf, Alexander; Sheffield, Nathan C.; Skantharajah, Neerjah; Smith, Albert V.; Sofia, Heidi J.; Spalding, Dylan; Spurdle, Amanda B.; Stark, Zornitza; Stein, Lincoln D.; Suematsu, Makoto; Tan, Patrick; Tedds, Jonathan A.; Thomson, Alastair A.; Thorogood, Adrian; Tickle, Timothy L.; Tokunaga, Katsushi; Tomroos, Juha; Torrents, David; Upchurch, Sean; Valencia, Alfonso; Guimera, Roman Valls; Vamathevan, Jessica; Varma, Susheel; Vears, Danya F.; Viner, Coby; Voisin, Craig; Wagner, Alex H.; Wallace, Susan E.; Walsh, Brian P.; Williams, Marc S.; Winkler, Eva C.; Wold, Barbara J.; Wood, Grant M.; Woolley, J. Patrick; Yamasaki, Chisato; Yates, Andrew D.; Yung, Christina K.; Zass, Lyndon J.; Zaytseva, Ksenia; Zhang, Junjun; Goodhand, Peter; North, Kathryn; Birney, Ewan Share Save
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The Monarch Initiative in 2019: an integrative data and analytic platform connecting phenotypes to genotypes across species 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, Zoe 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; Koehler, Sebastian; Smedley, Damian; Robinson, Peter N.; Mungall, Christopher J.; Haendel, Melissa A.; Munoz-Torres, Monica C.; Osumi-Sutherland, David Share Save
How many rare diseases are there? Haendel, Melissa; Vasilevsky, Nicole; Unni, Deepak; Bologa, Cristian; Harris, Nomi; Rehm, Heidi; Hamosh, Ada; Baynam, Gareth; Groza, Tudor; McMurry, Julie; Dawkins, Hugh; Rath, Ana; Thaxon, Courtney; Bocci, Giovanni; Joachimiak, Marcin P.; Koehler, Sebastian; Robinson, Peter N.; Mungall, Chris; Oprea, Tudor I. Share Save
Expansion of the Human Phenotype Ontology (HPO) knowledge base and resources Koehler, 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.; Yueksel, 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.; Gomez-Andres, David; Lochmueller, Hanns; Dollfus, Helene; Rosenzweig, Sergio; Marwaha, Shruti; Rath, Ana; Sullivan, Kathleen; Smith, Cynthia; Milner, Joshua D.; Leroux, Dorothee; Boerkoel, Cornelius F.; Klion, Amy; Carter, Melody C.; Groza, Tudor; Smedley, Damian; Haendel, Melissa A.; Mungall, Chris; Robinson, Peter N. Share Save
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