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
An ITPR1 Variant in the IP3-ITPR1 Binding Pocket Associated With a Clinical Phenotype of Athetoid Cerebral Palsy ITPR1 变体在 IP3-ITPR1 结合口袋中，与手足徐动型脑瘫的临床表型相关。 Ordaz, Thania; Sundaramurthi, Jagadish Chandrabose; Arterbery, Adam S.; Bagley, Anita M.; Gargano, Michael A.; Bauer, Jeremy P.; Danis, Daniel; Giampietro, Philip; Raney, Ellen; Rekerle, Lauren; Shingle, Mallory; Davids, Jon R.; Robinson, Peter N. 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
Genomes OnLine Database (GOLD) v.8: overview and updates (vol 49,Pg D723-D733,2021) Mukherjee, Supratim; Stamatis, Dimitri; Bertsch, Jon; Ovchinnikova, Galina; Sundaramurthi, Jagadish Chandrabose; Lee, Janey; Kandimalla, Mahathi; Woyke, Tanja; Eloe-Fardosh, Emiley A.; Kyrpides, Nikos C.; Reddy, T. B. K. 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
Twenty-five years of Genomes OnLine Database (GOLD): data updates and new features in v.9 25年的基因组在线数据库 (GOLD): v.9中的数据更新和新功能 Mukherjee, Supratim; Stamatis, Dimitri; Li, Cindy Tianqing; Ovchinnikova, Galina; Bertsch, Jon; Sundaramurthi, Jagadish Chandrabose; Kandimalla, Mahathi; Nicolopoulos, Paul A.; Favognano, Alessandro; Chen, I-Min A.; Kyrpides, Nikos C.; Reddy, T. B. K. 分享 收藏
The National Microbiome Data Collaborative Data Portal: an integrated multi-omics microbiome data resource Eloe-Fadrosh, Emiley A.; Ahmed, Faiza; Anubhav; Babinski, Michal; Baumes, Jeffrey; Borkum, Mark; Bramer, Lisa; Canon, Shane; Christianson, Danielle S.; Corilo, Yuri E.; Davenport, Karen W.; Davis, Brandon; Drake, Meghan; Duncan, William D.; Flynn, Mark C.; Hays, David; Hu, Bin; Huntemann, Marcel; Kelliher, Julia; Lebedeva, Sofya; Li, Po-E; Lipton, Mary; Lo, Chien-Chi; Martin, Stanton; Millard, David; Miller, Kayd; Miller, Mark A.; Piehowski, Paul; Jackson, Elais Player; Purvine, Samuel; Reddy, T. B. K.; Richardson, Rachel; Rudolph, Marisa; Sarrafan, Setareh; Shakya, Migun; Smith, Montana; Stratton, Kelly; Sundaramurthi, Jagadish Chandrabose; Vangay, Pajau; Winston, Donald; Wood-Charlson, Elisha M.; Xu, Yan; Chain, Patrick S. G.; McCue, Lee Ann; Mans, Douglas; Mungall, Christopher J.; Mouncey, Nigel J.; Fagnan, Kjiersten 分享 收藏
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. 分享 收藏
Microbiome Metadata Standards: Report of the National Microbiome Data Collaborative's Workshop and Follow-On Activities (vol 6, e01194-20, 2021) 微生物组元数据标准: 国家微生物组数据协作研讨会和后续活动的报告 (第6卷，e01194-20，2021) Vangay, Pajau; Burgin, Josephine; Johnston, Anjanette; Beck, Kristen L.; Berrios, Daniel C.; Blumberg, Kai; Canon, Shane; Chain, Patrick; Chandonia, John-Marc; Christianson, Danielle; Costes, Sylvain V.; Damerow, Joan; Duncan, William D.; Dundore-Arias, Jose Pablo; Fagnan, Kjiersten; Galazka, Jonathan M.; Gibbons, Sean M.; Hays, David; Hervey, Judson; Hu, Bin; Hurwitz, Bonnie L.; Jaiswal, Pankaj; Joachimiak, Marcin P.; Kinkel, Linda; Ladau, Joshua; Martin, Stanton L.; McCue, Lee Ann; Miller, Kayd; Mouncey, Nigel; Mungall, Chris; Pa, Evangelos; Reddy, T. B. K.; Richardson, Lorna; Roux, Simon; Schriml, Lynn M.; Shaffer, Justin P.; Sundaramurthi, Jagadish Chandrabose; Thompson, Luke R.; Timme, Ruth E.; Zheng, Jie; Wood-Charlson, Elisha M.; Eloe-Fadrosh, Emiley A. 分享 收藏
Microbiome Metadata Standards: Report of the National Microbiome Data Collaborative's Workshop and Follow-On Activities 微生物组元数据标准: 国家微生物组数据协作研讨会和后续活动的报告 Vangay, Pajau; Burgin, Josephine; Johnston, Anjanette; Beck, Kristen L.; Berrios, Daniel C.; Blumberg, Kai; Canon, Shane; Chain, Patrick; Chandonia, John-Marc; Christianson, Danielle; Costes, Sylvain V.; Damerow, Joan; Duncan, William D.; Dundore-Arias, Jose Pablo; Fagnan, Kjiersten; Galazka, Jonathan M.; Gibbons, Sean M.; Hays, David; Hervey, Judson; Hu, Bin; Hurwitz, Bonnie L.; Jaiswal, Pankaj; Joachimiak, Marcin P.; Kinkel, Linda; Ladau, Joshua; Martin, Stanton L.; McCue, Lee Ann; Miller, Kayd; Mouncey, Nigel; Mungall, Chris; Pafilis, Evangelos; Reddy, T. B. K.; Richardson, Lorna; Roux, Simon; Schriml, Lynn M.; Shaffer, Justin P.; Sundaramurthi, Jagadish Chandrabose; Thompson, Luke R.; Timme, Ruth E.; Zheng, Jie; Wood-Charlson, Elisha M.; Eloe-Fadrosh, Emiley A. 分享 收藏
Genomes OnLine Database (GOLD) v.8: overview and updates Mukherjee, Supratim; Stamatis, Dimitri; Bertsch, Jon; Ovchinnikova, Galina; Sundaramurthi, Jagadish Chandrabose; Lee, Janey; Kandimalla, Mahathi; Chen, I-Min A.; Kyrpides, Nikos C.; Reddy, T. B. K. 分享 收藏
The National Microbiome Data Collaborative: enabling microbiome science Wood-Charlson, Elisha M.; Anubhav; Auberry, Deanna; Blanco, Hannah; Borkum, Mark I.; Corilo, Yuri E.; Davenport, Karen W.; Deshpande, Shweta; Devarakonda, Ranjeet; Drake, Meghan; Duncan, William D.; Flynn, Mark C.; Hays, David; Hu, Bin; Huntemann, Marcel; Li, Po-E; Lipton, Mary; Lo, Chien-Chi; Millard, David; Miller, Kayd; Piehowski, Paul D.; Purvine, Samuel; Reddy, T. B. K.; Shakya, Migun; Sundaramurthi, Jagadish Chandrabose; Vangay, Pajau; Wei, Yaxing; Wilson, Bruce E.; Canon, Shane; Chain, Patrick S. G.; Fagnan, Kjiersten; Martin, Stanton; McCue, Lee Ann; Mungall, Christopher J.; Mouncey, Nigel J.; Maxon, Mary E.; Eloe-Fadrosh, Emiley A. 分享 收藏
Evidence for Highly Variable, Region-Specific Patterns of T-Cell Epitope Mutations Accumulating in Mycobacterium tuberculosis Strains Ramaiah, Arunachalam; Nayak, Soumya; Rakshit, Srabanti; Manson, Abigail L.; Abeel, Thomas; Shanmugam, Sivakumar; Sahoo, Pravat Nalini; John, Anto Jesuraj Uday Kumar; Sundaramurthi, Jagadish Chandrabose; Narayanan, Sujatha; D'Souza, George; von Hoegen, Paul; Ottenhoff, Tom H. M.; Swaminathan, Soumya; Earl, Ashlee M.; Vyakarnam, Annapurna 分享 收藏
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Mycobacterium tuberculosis Whole Genome Sequences From Southern India Suggest Novel Resistance Mechanisms and the Need for Region-Specific Diagnostics Manson, Abigail L.; Abeel, Thomas; Galagan, James E.; Sundaramurthi, Jagadish Chandrabose; Salazar, Alex; Gehrmann, Thies; Shanmugam, Siva Kumar; Palaniyandi, Kannan; Narayanan, Sujatha; Swaminathan, Soumya; Earl, Ashlee M. 分享 收藏
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