未登录 A phenotypic paradigm for cerebral palsy genetics 脑性瘫痪遗传学的表型范例 Arterbery, Adam S.; Gargano, Michael A.; Bagley, Anita; Sundaramurthi, Jagadish Chandrabose; Rekerle, Lauren; Ordaz-Robles, Thania; Danis, Daniel; Graefe, Adam S. L.; Arenas-Diaz, Ana L.; Bauer, Jeremy P.; Blau, Hannah; Carmody, Leigh; Carroll, Kristen I.; Davis, Janice; Giampietro, Philip F.; Gustafson, Anxhela Gjyshi; Hernandez, Monserat; Jacobsen, Julius O. B.; Lemhouse, Paige; Millet, David; Mukherjee, Shubhra; Nairne, Patrick S.; Nice, Emily; Plotkin, Talia; Powell, Kenneth; Ramlow, Lukas; Raney, Ellen M.; Shingle, Mallory; Smedley, Damian; Smith, Peter A.; Soliman, Demiana A.; Westberry, David E.; Davids, Jon R.; Robinson, Peter N. 分享 收藏
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The Unified Phenotype Ontology : a framework for cross-species integrative phenomics 统一表型本体论: 跨物种整合表型组学的框架 Matentzoglu, Nicolas; Bello, Susan M.; Stefancsik, Ray; Alghamdi, Sarah M.; Anagnostopoulos, Anna, V; Balhoff, James P.; Balk, Meghan A.; Bradford, Yvonne M.; Bridges, Yasemin; Callahan, Tiffany J.; Caufield, Harry; Cuzick, Alayne; Carmody, Leigh C.; Caron, Anita R.; de Souza, Vinicius; Engel, Stacia R.; Fey, Petra; Fisher, Malcolm; Gehrke, Sarah; Grove, Christian; Hansen, Peter; Harris, Nomi L.; Harris, Midori A.; Harris, Laura; Ibrahim, Arwa; Jacobsen, Julius O. B.; Koehler, Sebastian; Mcmurry, Julie A.; Munoz-Fuentes, Violeta; Munoz-Torres, Monica C.; Parkinson, Helen; Pendlington, Zoe M.; Pilgrim, Clare; Robb, Sofia M. C.; Robinson, Peter N.; Seager, James; Segerdell, Erik; Smedley, Damian; Sollis, Elliot; Toro, Sabrina; Vasilevsky, Nicole; Wood, Valerie; Haendel, Melissa A.; Mungall, Christopher J.; Mclaughlin, James A.; Osumi-Sutherland, David 分享 收藏
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. 分享 收藏
OBO Foundry food ontology interconnectivity Dooley, Damion; Andres-Hernandez, Liliana; Bordea, Georgeta; Carmodyd, Leigh; Cavalieri, Duccio; Chan, Lauren; Castellano-Escuder, Pol; Mougin, Carl Lachath Fleur; Mougin, Fleur; Vitali, Francesco; Yang, Chen; Weber, Magalie; Mcginty, Hande Kucuk; Lange, Matthew 分享 收藏
The Medical Action Ontology: A tool for annotating and analyzing treatments and clinical management of human disease Carmody, Leigh C.; Gargano, Michael A.; Toro, Sabrina; Vasilevsky, Nicole A.; Adam, Margaret P.; Blau, Hannah; Chan, Lauren E.; Gomez-Andres, David; Horvath, Rita; Kraus, Megan L.; Ladewig, Markus S.; Lewis-Smith, David; Lochmueller, Hanns; Matentzoglu, Nicolas A.; Munoz-Torres, Monica C.; Schuetz, Catharina; Seitz, Berthold; Similuk, Morgan N.; Sparks, Teresa N.; Strauss, Timmy; Swietlik, Emilia M.; Thompson, Rachel; Zhang, Xingmin Aaron; Mungall, Christopher J.; Haendel, Melissa A.; Robinson, Peter N. 分享 收藏
The Human Phenotype Ontology in 2024: phenotypes around the world 人类表型本体论2024年: 世界各地的表型 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. 分享 收藏
Standards for the classification of pathogenicity of somatic variants in cancer (oncogenicity): Joint recommendations of Clinical Genome Resource (ClinGen), Cancer Genomics Consortium (CGC), and Variant Interpretation for Cancer Consortium (VICC) (vol 24, pg 986, 2022) Horak, Peter; Griffith, Malachi; Danos, Arpad M.; Pitel, Beth A.; Madhavan, Subha; Liu, Xuelu; Chow, Cynthia; Williams, Heather; Carmody, Leigh; Barrow-Laing, Lisa; Rieke, Damian; Kreutzfeldt, Simon; Stenzinger, Albrecht; Tamborero, David; Benary, Manuela; Rajagopal, Padma Sheila; Ida, Cristiane M.; Lesmana, Harry; Satgunaseelan, Laveniya; Merker, Jason D.; Tolstorukov, Michael Y.; Campregher, Paulo Vidal; Warner, Jeremy L.; Rao, Shruti; Natesan, Maya; Shen, Haolin; Venstrom, Jeffrey; Roy, Somak; Tao, Kayoko; Kanagal-Shamanna, Rashmi; Xu, Xinjie; Ritter, Deborah I.; Pagel, Kym; Krysiak, Kilannin; Dubuc, Adrian; Akkari, Yassmine M.; Li, Xuan Shirley; Lee, Jennifer; King, Ian; Raca, Gordana; Wagner, Alex H.; Li, Marylin M.; Plon, Sharon E.; Kulkarni, Shashikant; Griffith, Obi L.; Chakravarty, Debyani; Sonkin, Dmitriy 分享 收藏
Standards for the classification of pathogenicity of somatic variants in cancer (oncogenicity): Joint recommendations of Clinical Genome Resource (ClinGen), Cancer Genomics Consortium (CGC), and Variant Interpretation for Cancer Consortium (VICC) 癌症体细胞变异的致病性分类标准 (致癌性): 临床基因组资源 (ClinGen)，癌症基因组学联盟 (CGC) 和癌症变异解释联盟 (VICC) 的联合建议 Horak, Peter; Griffith, Malachi; Danos, Arpad M.; Pitel, Beth A.; Madhavan, Subha; Liu, Xuelu; Chow, Cynthia; Williams, Heather; Carmody, Leigh; Barrow-Laing, Lisa; Rieke, Damian; Kreutzfeldt, Simon; Stenzinger, Albrecht; Tamborero, David; Benary, Manuela; Rajagopal, Padma Sheila; Ida, Cristiane M.; Lesmana, Harry; Satgunaseelan, Laveniya; Merker, Jason D.; Tolstorukov, Michael Y.; Campregher, Paulo Vidal; Warner, Jeremy L.; Rao, Shruti; Natesan, Maya; Shen, Haolin; Venstrom, Jeffrey; Roy, Somak; Tao, Kayoko; Kanagal-Shamanna, Rashmi; Xu, Xinjie; Ritter, Deborah, I; Pagel, Kym; Krysiak, Kilannin; Dubuc, Adrian; Akkari, Yassmine M.; Li, Xuan Shirley; Lee, Jennifer; King, Ian; Raca, Gordana; Wagner, Alex H.; Li, Marylin M.; Plon, Sharon E.; Kulkarni, Shashikant; Griffith, Obi L.; Chakravarty, Debyani; Sonkin, Dmitriy 分享 收藏
Supervised learning with word embeddings derived from PubMed captures latent knowledge about protein kinases and cancer Ravanmehr, Vida; Blau, Hannah; Cappelletti, Luca; Fontana, Tommaso; Carmody, Leigh; Coleman, Ben; George, Joshy; Reese, Justin; Joachimiak, Marcin; Bocci, Giovanni; Hansen, Peter; Bult, Carol; Rueter, Jens; Casiraghi, Elena; Valentini, Giorgio; Mungall, Christopher; Oprea, Tudor, I; Robinson, Peter N. 分享 收藏
Characterizing Long COVID: Deep Phenotype of a Complex Condition Deer, Rachel R.; Rock, Madeline A.; Vasilevsky, Nicole; Carmody, Leigh; Rando, Halie; Anzalone, Alfred J.; Basson, Marc D.; Bennett, Tellen D.; Bergquist, Timothy; Boudreau, Eilis A.; Bramante, Carolyn T.; Byrd, James Brian; Callahan, Tiffany J.; Chan, Lauren E.; Chu, Haitao; Chute, Christopher G.; Coleman, Ben D.; Davis, Hannah E.; Gagnier, Joel; Greene, Casey S.; Hillegass, William B.; Kavuluru, Ramakanth; Kimble, Wesley D.; Koraishy, Farrukh M.; Kohler, Sebastian; Liang, Chen; Liu, Feifan; Liu, Hongfang; Madhira, Vithal; Madlock-Brown, Charisse R.; Matentzoglu, Nicolas; Mazzotti, Diego R.; McMurry, Julie A.; McNair, Douglas S.; Moffitt, Richard A.; Monteith, Teshamae S.; Parker, Ann M.; Perry, Mallory A.; Pfaff, Emily; Reese, Justin T.; Saltz, Joel; Schuff, Robert A.; Solomonides, Anthony E.; Solway, Julian; Spratt, Heidi; Stein, Gary S.; Sule, Anupam A.; Topaloglu, Umit; Vavougios, George D.; Wang, Liwei; Haendel, Melissa A.; Robinson, Peter N. 分享 收藏
Interpretable prioritization of splice variants in diagnostic next-generation sequencing (vol 108, pg 1564, 2021) Danis, Daniel; Jacobsen, Julius O. B.; Carmody, Leigh C.; Gargano, Michael A.; McMurry, Julie A.; Hegde, Ayushi; Haendel, Melissa A.; Valentini, Giorgio; Smedley, Damian; Robinson, Peter N. 分享 收藏
Interpretable prioritization of splice variants in diagnostic next-generation sequencing 诊断性下一代测序中剪接变体的可解释优先级 Danis, Daniel; Jacobsen, Julius O. B.; Carmody, Leigh C.; Gargano, Michael A.; McMurry, Julie A.; Hegde, Ayushi; Haendel, Melissa A.; Valentini, Giorgio; Smedley, Damian; Robinson, Peter N. 分享 收藏
A guide to writing systematic reviews of rare disease treatments to generate FAIRcompliant datasets: building a Treatabolome (vol 15, 206, 2020) Atalaia, Antonio; Thompson, Rachel; Corvo, Alberto; Carmody, Leigh; Piscia, Davide; Matalonga, Leslie; Macaya, Alfons; Lochmuller, Angela; Fontaine, Bertrand; Zurek, Birte; Hernandez-Ferrer, Carles; Reinhard, Carola; Gomez-Andres, David; Desaphy, Jean-Francois; Schon, Katherine; Lohmann, Katja; Jennings, Matthew J.; Synofzik, Matthis; Riess, Olaf; Ben Yaou, Rabah; Evangelista, Teresinha; Ratnaike, Thiloka; Bros-Facer, Virginie; Gumus, Gulcin; Horvath, Rita; Chinnery, Patrick; Laurie, Steven; Graessner, Holm; Robinson, Peter; Lochmuller, Hanns; Beltran, Sergi; Bonne, Gisele 分享 收藏
The Human Phenotype Ontology in 2021 人类表型本体2021年 Koehler, Sebastian; Gargano, Michael; Matentzoglu, Nicolas; Carmody, Leigh C.; Lewis-Smith, David; Vasilevsky, Nicole A.; Danis, Daniel; Balagura, Ganna; Baynam, Gareth; Brower, Amy M.; Callahan, Tiffany J.; Chute, Christopher G.; Est, Johanna L.; Galer, Peter D.; Ganesan, Shiva; Griese, Matthias; Haimel, Matthias; Pazmandi, Julia; Hanauer, Marc; Harris, Nomi L.; Hartnett, Michael J.; Hastreiter, Maximilian; Hauck, Fabian; He, Yongqun; Jeske, Tim; Kearney, Hugh; Kindle, Gerhard; Klein, Christoph; Knoflach, Katrin; Krause, Roland; Lagorce, David; McMurry, Julie A.; Miller, Jillian A.; Munoz-Torres, Monica C.; Peters, Rebecca L.; Rapp, Christina K.; Rath, Ana M.; Rind, Shahmir A.; Rosenberg, Avi Z.; Segal, Michael M.; Seidel, Markus G.; Smedley, Damian; Talmy, Tomer; Thomas, Yarlalu; Wiafe, Samuel A.; Xian, Julie; Yueksel, Zafer; Helbig, Ingo; Mungall, Christopher J.; Haendel, Melissa A.; Robinson, Peter N. 分享 收藏
Interpretable Clinical Genomics with a Likelihood Ratio Paradigm 具有似然比范式的可解释临床基因组学 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; Koehler, Sebastian; McMurry, Julie A.; Haendel, Melissa A.; Smedley, Damian 分享 收藏
A guide to writing systematic reviews of rare disease treatments to generate FAIR-compliant datasets: building a Treatabolome Atalaia, Antonio; Thompson, Rachel; Corvo, Alberto; Carmody, Leigh; Piscia, Davide; Matalonga, Leslie; Macaya, Alfons; Lochmuller, Angela; Fontaine, Bertrand; Zurek, Birte; Hernandez-Ferrer, Carles; Rheinard, Carola; Gomez-Andres, David; Desaphy, Jean-Francois; Schon, Katherine; Lohmann, Katja; Jennings, Matthew J.; Synofzik, Matthis; Riess, Olaf; Ben Yaou, Rabah; Evangelista, Teresinha; Ratnaike, Thiloka; Bros-Facer, Virginie; Gumus, Gulcin; Horvath, Rita; Chinnery, Patrick; Laurie, Steven; Graessner, Holm; Robinson, Peter; Lochmuller, Hanns; Beltran, Sergi; Bonne, Gisele 分享 收藏
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The Monarch Initiative in 2019: an integrative data and analytic platform connecting phenotypes to genotypes across species 君主倡议2019年: 一个将表型与跨物种基因型联系起来的综合数据和分析平台 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 分享 收藏
Semantic integration of clinical laboratory tests from electronic health records for deep phenotyping and biomarker discovery Zhang, Xingmin Aaron; Yates, Amy; Vasilevsky, Nicole; Gourdine, J. P.; Callahan, Tiffany J.; Carmody, Leigh C.; Danis, Daniel; Joachimiak, Marcin P.; Ravanmehr, Vida; Pfaff, Emily R.; Champion, James; Robasky, Kimberly; Xu, Hao; Fecho, Karamarie; Walton, Nephi A.; Zhu, Richard L.; Ramsdill, Justin; Mungall, Christopher J.; Koehler, Sebastian; Haendel, Melissa A.; McDonald, Clement J.; Vreeman, Daniel J.; Peden, David B.; Bennett, Tellen D.; Feinstein, James A.; Martin, Blake; Stefanski, Adrianne L.; Hunter, Lawrence E.; Chute, Christopher G.; Robinson, Peter N. 分享 收藏
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