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收藏An Annotated Living Organoid Biobank for Studying Gallbladder Diseases and Drug Responses一个用于研究胆囊疾病和药物反应的注释型活体类器官生物银行
Dutta, Ankita; Chowdhury, Nandita; Selvarajan, Akshaya Vijayan; Guha, Payel; Banerjee, Pritha; Kar, Abhirupa; Sunderam, Uma; Ganguli, Debdutta; Dutta, Trina; Basak, Dipjit; Satheeshkumar, Smrithi Jayashree; Chandra, Shinjini; Ragate, Anand Sagar; Krishnan, Shekhar; Sen, Saugata; Roy, Manas Kumar; Banerjee, Sudeep; Srinivasan, Rajgopal; Roy, Paromita; Saha, Vaskar; Dutta, Anindita; Guhasarkar, Dwijit 分享 收藏 分享 收藏 分享 收藏 Evaluation of enzyme activity predictions for variants of unknown significance in Arylsulfatase AJain, Shantanu; Trinidad, Marena; Nguyen, Thanh Binh; Jones, Kaiya; Neto, Santiago Diaz; Ge, Fang; Glagovsky, Ailin; Jones, Cameron; Moran, Giankaleb; Wang, Boqi; Rahimi, Kobra; Calici, Suemeyra Zeynep; Cedillo, Luis R.; Berardelli, Silvia; Ozden, Buse; Chen, Ken; Katsonis, Panagiotis; Williams, Amanda; Lichtarge, Olivier; Rana, Sadhna; Pradhan, Swatantra; Srinivasan, Rajgopal; Sajeed, Rakshanda; Joshi, Dinesh; Faraggi, Eshel; Jernigan, Robert; Kloczkowski, Andrzej; Xu, Jierui; Song, Zigang; Ozkan, Selen; Padilla, Natalia; de la Cruz, Xavier; Acuna-Hidalgo, Rocio; Grafmueller, Andrea; Barron, Laura T. Jimenez; Manfredi, Matteo; Savojardo, Castrense; Babbi, Giulia; Martelli, Pier Luigi; Casadio, Rita; Sun, Yuanfei; Zhu, Shaowen; Shen, Yang; Pucci, Fabrizio; Rooman, Marianne; Cia, Gabriel; Raimondi, Daniele; Hermans, Pauline; Kwee, Sofia; Chen, Ella; Astore, Courtney; Kamandula, Akash; Pejaver, Vikas; Ramola, Rashika; Velyunskiy, Michelle; Zeiberg, Daniel; Mishra, Reet; Sterling, Teague; Goldstein, Jennifer L.; Lugo-Martinez, Jose; Kazi, Sufyan; Li, Sindy; Long, Kinsey; Brenner, Steven E.; Bakolitsa, Constantina; Radivojac, Predrag; Suhr, Dean; Suhr, Teryn; Clark, Wyatt T. 分享 收藏 Disruption of the moonlighting function of CTF18 in a patient with T-lymphopeniaSertori, Robert; Truong, Billy; Singh, Manoj K.; Shinton, Susan; Price, Rachael; Sharo, Andrew; Shultes, Paulameena; Sunderam, Uma; Rana, Sadhna; Srinivasan, Rajgopal; Datta, Sutapa; Font-Burgada, Joan; Brenner, Steven E.; Puck, Jennifer M.; Wiest, David L. 分享 收藏 分享 收藏 CAGI6 ID panel challenge: assessment of phenotype and variant predictions in 415 children with neurodevelopmental disorders (NDDs)Aspromonte, Maria Cristina; Del Conte, Alessio; Zhu, Shaowen; Tan, Wuwei; Shen, Yang; Zhang, Yexian; Li, Qi; Wang, Maggie Haitian; Babbi, Giulia; Bovo, Samuele; Martelli, Pier Luigi; Casadio, Rita; Althagafi, Azza; Toonsi, Sumyyah; Kulmanov, Maxat; Hoehndorf, Robert; Katsonis, Panagiotis; Williams, Amanda; Lichtarge, Olivier; Xian, Su; Surento, Wesley; Pejaver, Vikas; Mooney, Sean D.; Sunderam, Uma; Srinivasan, Rajgopal; Murgia, Alessandra; Piovesan, Damiano; Tosatto, Silvio C. E.; Leonardi, Emanuela 分享 收藏 分享 收藏 Critical assessment of variant prioritization methods for rare disease diagnosis within the rare genomes projectStenton, Sarah L.; O'Leary, Melanie C.; Lemire, Gabrielle; Vannoy, Grace E.; Ditroia, Stephanie; Ganesh, Vijay S.; Groopman, Emily; O'Heir, Emily; Mangilog, Brian; Osei-Owusu, Ikeoluwa; Pais, Lynn S.; Serrano, Jillian; Singer-Berk, Moriel; Weisburd, Ben; Wilson, Michael W.; Austin-Tse, Christina; Abdelhakim, Marwa; Althagafi, Azza; Babbi, Giulia; Bellazzi, Riccardo; Bovo, Samuele; Carta, Maria Giulia; Casadio, Rita; Coenen, Pieter-Jan; De Paoli, Federica; Floris, Matteo; Gajapathy, Manavalan; Hoehndorf, Robert; Jacobsen, Julius O. B.; Joseph, Thomas; Kamandula, Akash; Katsonis, Panagiotis; Kint, Cyrielle; Lichtarge, Olivier; Limongelli, Ivan; Lu, Yulan; Magni, Paolo; Mamidi, Tarun Karthik Kumar; Martelli, Pier Luigi; Mulargia, Marta; Nicora, Giovanna; Nykamp, Keith; Pejaver, Vikas; Peng, Yisu; Pham, Thi Hong Cam; Podda, Maurizio S.; Rao, Aditya; Rizzo, Ettore; Saipradeep, Vangala G.; Savojardo, Castrense; Schols, Peter; Shen, Yang; Sivadasan, Naveen; Smedley, Damian; Soru, Dorian; Srinivasan, Rajgopal; Sun, Yuanfei; Sunderam, Uma; Tan, Wuwei; Tiwari, Naina; Wang, Xiao; Wang, Yaqiong; Williams, Amanda; Worthey, Elizabeth A.; Yin, Rujie; You, Yuning; Zeiberg, Daniel; Zucca, Susanna; Bakolitsa, Constantina; Brenner, Steven E.; Fullerton, Stephanie M.; Radivojac, Predrag; Rehm, Heidi L.; O'Donnell-Luria, Anne 分享 收藏 CAGI, the Critical Assessment of Genome Interpretation, establishes progress and prospects for computational genetic variant interpretation methodsCAGI，基因组解释的关键评估，建立了计算遗传变异解释方法的进展和前景Jain, Shantanu; Bakolitsa, Constantina; Brenner, Steven E.; Radivojac, Predrag; Moult, John; Repo, Susanna; Hoskins, Roger A.; Andreoletti, Gaia; Barsky, Daniel; Chellapan, Ajithavalli; Chu, Hoyin; Dabbiru, Navya; Kollipara, Naveen K.; Ly, Melissa; Neumann, Andrew J.; Pal, Lipika R.; Odell, Eric; Pandey, Gaurav; Peters-Petrulewicz, Robin C.; Srinivasan, Rajgopal; Yee, Stephen F.; Yeleswarapu, Sri Jyothsna; Zuhl, Maya; Adebali, Ogun; Patra, Ayoti; Beer, Michael A.; Hosur, Raghavendra; Peng, Jian; Bernard, Brady M.; Berry, Michael; Dong, Shengcheng; Boyle, Alan P.; Adhikari, Aashish; Chen, Jingqi; Hu, Zhiqiang; Wang, Robert; Wang, Yaqiong; Miller, Maximilian; Wang, Yanran; Bromberg, Yana; Turina, Paola; Capriotti, Emidio; Han, James J.; Ozturk, Kivilcim; Carter, Hannah; Babbi, Giulia; Bovo, Samuele; Di Lena, Pietro; Martelli, Pier Luigi; Savojardo, Castrense; Casadio, Rita; Cline, Melissa S.; De Baets, Greet; Bonache, Sandra; Diez, Orland; Gutierrez-Enriquez, Sara; Fernandez, Alejandro; Montalban, Gemma; Ootes, Lars; Ozkan, Selen; Padilla, Natalia; Riera, Casandra; De la Cruz, Xavier; Diekhans, Mark; Huwe, Peter J.; Wei, Qiong; Xu, Qifang; Dunbrack, Roland L.; Gotea, Valer; Elnitski, Laura; Margolin, Gennady; Fariselli, Piero; Kulakovskiy, Ivan V.; Makeev, Vsevolod J.; Penzar, Dmitry D.; Vorontsov, Ilya E.; Favorov, Alexander V.; Forman, Julia R.; Hasenahuer, Marcia; Fornasari, Maria S.; Parisi, Gustavo; Avsec, Ziga; Celik, Muhammed H.; Thi Yen Duong Nguyen; Gagneur, Julien; Shi, Fang-Yuan; Edwards, Matthew D.; Guo, Yuchun; Tian, Kevin; Zeng, Haoyang; Gifford, David K.; Goke, Jonathan; Zaucha, Jan; Gough, Julian; Ritchie, Graham R. S.; Frankish, Adam; Mudge, Jonathan M.; Harrow, Jennifer; Young, Erin L.; Yu, Yao; Huff, Chad D.; Murakami, Katsuhiko; Nagai, Yoko; Imanishi, Tadashi; Mungall, Christopher J.; Jacobsen, Julius O. B.; Kim, Dongsup; Jeong, Chan-Seok; Jones, David T.; Li, Mulin Jun; Guthrie, Violeta Beleva; Bhattacharya, Rohit; Chen, Yun-Ching; Douville, Christopher; Fan, Jean; Kim, Dewey; Masica, David; Niknafs, Noushin; Sengupta, Sohini; Tokheim, Collin; Turner, Tychele N.; Yeo, Hui Ting Grace; Karchin, Rachel; Shin, Sunyoung; Welch, Rene; Keles, Sunduz; Li, Yue; Kellis, Manolis; Corbi-Verge, Carles; Strokach, Alexey V.; Kim, Philip M.; Klein, Teri E.; Mohan, Rahul; Sinnott-Armstrong, Nicholas A.; Wainberg, Michael; Kundaje, Anshul; Gonzaludo, Nina; Mak, Angel C. Y.; Chhibber, Aparna; Lam, Hugo Y. K.; Dahary, Dvir; Fishilevich, Simon; Lancet, Doron; Lee, Insuk; Bachman, Benjamin; Katsonis, Panagiotis; Lua, Rhonald C.; Wilson, Stephen J.; Lichtarge, Olivier; Bhat, Rajendra R.; Sundaram, Laksshman; Viswanath, Vivek; Bellazzi, Riccardo; Nicora, Giovanna; Rizzo, Ettore; Limongelli, Ivan; Mezlini, Aziz M.; Chang, Ray; Kim, Serra; Lai, Carmen; O'Connor, Robert; Topper, Scott; van den Akker, Jeroen; Zhou, Alicia Y.; Zimmer, Anjali D.; Mishne, Gilad; Bergquist, Timothy R.; Breese, Marcus R.; Guerrero, Rafael F.; Jiang, Yuxiang; Kiga, Nikki; Li, Biao; Mort, Matthew; Pagel, Kymberleigh A.; Pejaver, Vikas; Stamboulian, Moses H.; Thusberg, Janita; Mooney, Sean D.; Teerakulkittipong, Nuttinee; Cao, Chen; Kundu, Kunal; Yin, Yizhou; Yu, Chen-Hsin; Kleyman, Michael; Lin, Chiao-Feng; Stackpole, Mary; Mount, Stephen M.; Eraslan, Gokcen; Mueller, Nikola S.; Naito, Tatsuhiko; Rao, Aliz R.; Azaria, Johnathan R.; Brodie, Aharon; Ofran, Yanay; Garg, Aditi; Pal, Debnath; Hawkins-Hooker, Alex; Kenlay, Henry; Reid, John; Mucaki, Eliseos J.; Rogan, Peter K.; Schwarz, Jana M.; Searls, David B.; Lee, Gyu Rie; Seok, Chaok; Kramer, Andreas; Shah, Sohela; Huang, ChengLai V.; Kirsch, Jack F.; Shatsky, Maxim; Cao, Yue; Chen, Haoran; Karimi, Mostafa; Moronfoye, Oluwaseyi; Sun, Yuanfei; Shen, Yang; Shigeta, Ron; Ford, Colby T.; Nodzak, Conor; Uppal, Aneeta; Shi, Xinghua; Joseph, Thomas; Kotte, Sujatha; Rana, Sadhna; Rao, Aditya; Saipradeep, V. G.; Sivadasan, Naveen; Sunderam, Uma; Stanke, Mario; Su, Andrew; Adzhubey, Ivan; Jordan, Daniel M.; Sunyaev, Shamil; Rousseau, Frederic; Schymkowitz, Joost; Van Durme, Joost; Tavtigian, Sean V.; Carraro, Marco; Giollo, Manuel; Tosatto, Silvio C. E.; Adato, Orit; Carmel, Liran; Cohen, Noa E.; Fenesh, Izila; Holtzer, Iamar; Juven-Gershon, Tamar; Unger, Ron; Niroula, Abhishek; Olatubosun, Ayodeji; Valiaho, Jouni; Yang, Yang; Vihinen, Mauno; Wahl, Mary E.; Chang, Billy; Chong, Ka Chun; Hu, Inchi; Sun, Rui; Wu, William Ka Kei; Xia, Xiaoxuan; Zee, Benny C.; Wang, Maggie H.; Wang, Meng; Wu, Chunlei; Lu, Yutong; Chen, Ken; Yang, Yuedong; Yates, Christopher M.; Kreimer, Anat; Yan, Zhongxia; Yosef, Nir; Zhao, Huying; Wei, Zhipeng; Yao, Zhaomin; Zhou, Fengfeng; Folkman, Lukas; Zhou, Yaoqi; Daneshjou, Roxana; Altman, Russ B.; Inoue, Fumitaka; Ahituv, Nadav; Arkin, Adam P.; Lovisa, Federica; Bonvini, Paolo; Bowdin, Sarah; Gianni, Stefano; Mantuano, Elide; Minicozzi, Velia; Novak, Leonore; Pasquo, Alessandra; Pastore, Annalisa; Petrosino, Maria; Puglisi, Rita; Toto, Angelo; Veneziano, Liana; Chiaraluce, Roberta; Ball, Mad P.; Bobe, Jason R.; Church, George M.; Consalvi, Valerio; Mort, Matthew; Cooper, David N.; Buckley, Bethany A.; Sheridan, Molly B.; Cutting, Garry R.; Scaini, Maria Chiara; Cygan, Kamil J.; Fredericks, Alger M.; Glidden, David T.; Neil, Christopher; Rhine, Christy L.; Fairbrother, William G.; Alontaga, Aileen Y.; Fenton, Aron W.; Matreyek, Kenneth A.; Starita, Lea M.; Fowler, Douglas M.; Loescher, Britt-Sabina; Franke, Andre; Adamson, Scott I.; Graveley, Brenton R.; Gray, Joe W.; Malloy, Mary J.; Kane, John P.; Kousi, Maria; Katsanis, Nicholas; Schubach, Max; Kircher, Martin; Tang, Paul L. F.; Kwok, Pui-Yan; Lathrop, Richard H.; Clark, Wyatt T.; Yu, Guoying K.; LeBowitz, Jonathan H.; Benedicenti, Francesco; Bettella, Elisa; Bigoni, Stefania; Cesca, Federica; Mammi, Isabella; Marino-Bus-Ije, Cristina; Milani, Donatella; Peron, Angela; Polli, Roberta; Sartori, Stefano; Stanzial, Franco; Ioldo, Irene; Turolla, Licia; Aspromonte, Maria C.; Bellini, Mariagrazia; Leonardi, Emanuela; Liu, Xiaoming; Marshall, Christian; McCombie, W. Richard; Elefanti, Lisa; Menin, Chiara; Meyn, M. Stephen; Murgia, Alessandra; Nadeau, Kari C. Y.; Neuhausen, Susan L.; Nussbaum, Robert L.; Pirooznia, Mehdi; Potash, James B.; Dimster-Denk, Dago F.; Rine, Jasper D.; Sanford, Jeremy R.; Snyder, Michael; Tavtigian, Sean V.; Cole, Alina G.; Sun, Song; Verby, Marta W.; Weile, Jochen; Roth, Frederick P.; Tewhey, Ryan; Sabeti, Pardis C.; Campagna, Joan; Refaat, Marwan M.; Wojciak, Julianne; Grubb, Soren; Schmitt, Nicole; Shendure, Jay; Spurdle, Amanda B.; Stavropoulos, Dimitri J.; Walton, Nephi A.; Zandi, Peter P.; Ziv, Elad; Burke, Wylie; Chen, Flavia; Carr, Lawrence R.; Martinez, Selena; Paik, Jodi; Harris-Wai, Julie; Yarborough, Mark; Fullerton, Stephanie M.; Koenig, Barbara A.; McInnes, Gregory; Shigaki, Dustin; Chandonia, John-Marc; Furutsuki, Mabel; Kasak, Laura; Yu, Changhua; Chen, Rui; Cline, Melissa S.; Pandey, Gaurav; Friedberg, Iddo; Getz, Gad A.; Cong, Qian; Kinch, Lisa N.; Zhang, Jing; Grishin, Nick V.; Voskanian, Alin; Kann, Maricel G.; Clark, Wyatt T.; Tran, Elizabeth; Ioannidis, Nilah M.; Hunter, Jesse M.; Udani, Rupa; Cai, Binghuang; Morgan, Alexander A.; Sokolov, Artem; Stuart, Joshua M.; Tavtigian, Sean V.; Minervini, Giovanni; Monzon, Alexander M.; Batzoglou, Serafim; Butte, Atul J.; Church, George M.; Greenblatt, Marc S.; Hart, Reece K.; Hernandez, Ryan; Hubbard, Tim J. P.; Kahn, Scott; O'Donnell-Luria, Anne; Ng, Pauline C.; Shon, John; Tavtigian, Sean V.; Veltman, Joris; Zook, Justin M. 分享 收藏 分享 收藏 分享 收藏 分享 收藏 Benchmarked approaches for reconstruction of in vitro cell lineages and in silico models of C. elegans and M. musculus developmental treesGong, Wuming; Granados, Alejandro A.; Hu, Jingyuan; Jones, Matthew G.; Raz, Ofir; Salvador-Martinez, Irepan; Zhang, Hanrui; Chow, Ke-Huan K.; Kwak, Il-Youp; Retkute, Renata; Prusokiene, Alisa; Prusokas, Augustinas; Khodaverdian, Alex; Zhang, Richard; Rao, Suhas; Wang, Robert; Rennert, Phil; Saipradeep, Vangala G.; Sivadasan, Naveen; Rao, Aditya; Joseph, Thomas; Srinivasan, Rajgopal; Peng, Jiajie; Han, Lu; Shang, Xuequn; Garry, Daniel J.; Yu, Thomas; Chung, Verena; Mason, Michael; Liu, Zhandong; Guan, Yuanfang; Yosef, Nir; Shendure, Jay; Telford, Maximilian J.; Shapiro, Ehud; Elowitz, Michael B.; Meyer, Pablo 分享 收藏 The role of exome sequencing in newborn screening for inborn errors of metabolismAdhikari, Aashish N.; Gallagher, Renata C.; Wang, Yaqiong; Currier, Robert J.; Amatuni, George; Bassaganyas, Laia; Chen, Flavia; Kundu, Kunal; Kvale, Mark; Mooney, Sean D.; Nussbaum, Robert L.; Randi, Savanna S.; Sanford, Jeremy; Shieh, Joseph T.; Srinivasan, Rajgopal; Sunderam, Uma; Tang, Hao; Vaka, Dedeepya; Zou, Yangyun; Koenig, Barbara A.; Kwok, Pui-Yan; Risch, Neil; Puck, Jennifer M.; Brenner, Steven E. 分享 收藏 Genomic Analysis of Historical Cases with Positive Newborn Screens for Short-Chain Acyl-CoA Dehydrogenase Deficiency Shows That a Validated Second-Tier Biochemical Test Can Replace Future SequencingAdhikari, Aashish N.; Currier, Robert J.; Tang, Hao; Turgeon, Coleman T.; Nussbaum, Robert L.; Srinivasan, Rajgopal; Sunderam, Uma; Kwok, Pui-Yan; Brenner, Steven E.; Gavrilov, Dimitar; Puck, Jennifer M.; Gallagher, Renata 分享 收藏 Predicting venous thromboembolism risk from exomes in the Critical Assessment of Genome Interpretation (CAGI) challengesMcInnes, Gregory; Daneshjou, Roxana; Katsonis, Panagiostis; Lichtarge, Olivier; Srinivasan, Rajgopal; Rana, Sadhna; Radivojac, Predrag; Mooney, Sean D.; Pagel, Kymberleigh A.; Stamboulian, Moses; Jiang, Yuxiang; Capriotti, Emidio; Wang, Yanran; Bromberg, Yana; Bovo, Samuele; Savojardo, Castrense; Martelli, Pier Luigi; Casadio, Rita; Pal, Lipika R.; Moult, John; Brenner, Steven E.; Altman, Russ 分享 收藏 Multisystem Anomalies in Severe Combined Immunodeficiency with Mutant BCL11B突变BCL11B的严重联合免疫缺陷的多系统异常Punwani, Divya; Zhang, Yong; Yu, Jason; Cowan, Morton J.; Rana, Sadhna; Kwan, Antonia; Adhikari, Aashish N.; Lizama, Carlos O.; Mendelsohn, Bryce A.; Fahl, Shawn P.; Chellappan, Ajithavalli; Srinivasan, Rajgopal; Brenner, Steven E.; Wiest, David L.; Puck, Jennifer M. 分享 收藏 A novel human autoimmune syndrome caused by combined hypomorphic and activating mutations in ZAP-70Chan, Alice Y.; Punwani, Divya; Kadlecek, Theresa A.; Cowan, Morton J.; Olson, Jean L.; Mathes, Erin F.; Sunderam, Uma; Fu, Shu Man; Srinivasan, Rajgopal; Kuriyan, John; Brenner, Steven E.; Weiss, Arthur; Puck, Jennifer M. 分享 收藏 
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