未登录 Extend the benchmarking indel set by manual review using the individual cell line sequencing data from the Sequencing Quality Control 2 (SEQC2) project Gong, Binsheng; Li, Dan; Zhang, Yifan; Kusko, Rebecca; Lababidi, Samir; Cao, Zehui; Chen, Mingyang; Chen, Ning; Chen, Qiaochu; Chen, Qingwang; Dai, Jiacheng; Gan, Qiang; Gao, Yuechen; Guo, Mingkun; Hariani, Gunjan; He, Yujie; Hou, Wanwan; Jiang, He; Kushwaha, Garima; Li, Jian-Liang; Li, Jianying; Li, Yulan; Liu, Liang-Chun; Liu, Ruimei; Liu, Shiming; Meriaux, Edwin; Mo, Mengqing; Moore, Mathew; Moss, Tyler J.; Niu, Quanne; Patel, Ananddeep; Ren, Luyao; Saremi, Nedda F.; Shang, Erfei; Shang, Jun; Song, Ping; Sun, Siqi; Urban, Brent J.; Wang, Danke; Wang, Shangzi; Wen, Zhining; Xiong, Xiangyi; Yang, Jingcheng; Yin, Lihui; Zhang, Chao; Zhang, Ruolan; Bhandari, Ambica; Cai, Wanshi; Eterovic, Agda Karina; Megherbi, Dalila B.; Shi, Tieliu; Suo, Chen; Yu, Ying; Zheng, Yuanting; Novoradovskaya, Natalia; Sears, Renee L.; Shi, Leming; Jones, Wendell; Tong, Weida; Xu, Joshua 分享 收藏
Human placental cytotrophoblast epigenome dynamics over gestation and alterations in placental disease Zhang, Bo; Kim, M. Yvonne; Elliot, GiNell; Zhou, Yan; Zhao, Guangfeng; Li, Daofeng; Lowdon, Rebecca F.; Gormley, Matthew; Kapidzic, Mirhan; Robinson, Joshua F.; McMaster, Michael T.; Hong, Chibo; Mazor, Tali; Hamilton, Emily; Sears, Renee L.; Pehrsson, Erica C.; Marra, Marco A.; Jones, Steven J. M.; Bilenky, Misha; Hirst, Martin; Wang, Ting; Costello, Joseph F.; Fisher, Susan J. 分享 收藏
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Primary brain calcification: an international study reporting novel variants and associated phenotypes Ramos, Eliana Marisa; Carecchio, Miryam; Lemos, Roberta; Ferreira, Joana; Legati, Andrea; Sears, Renee Louise; Hsu, Sandy Chan; Panteghini, Celeste; Magistrelli, Luca; Salsano, Ettore; Esposito, Silvia; Taroni, Franco; Richard, Anne-Claire; Tranchant, Christine; Anheim, Mathieu; Ayrignac, Xavier; Goizet, Cyril; Vidailhet, Marie; Maltete, David; Wallon, David; Frebourg, Thierry; Pimentel, Lylyan; Geschwind, Daniel H.; Vanakker, Olivier; Galasko, Douglas; Fogel, Brent L.; Innes, A. Micheil; Ross, Alison; Dobyns, William B.; Alcantara, Diana; O'Driscoll, Mark; Hannequin, Didier; Campion, Dominique; Oliveira, Joao R.; Garavaglia, Barbara; Coppola, Giovanni; Nicolas, Gael 分享 收藏
Peripheral blood gene expression reveals an inflammatory transcriptomic signature in Friedreich's ataxia patients Nachun, Daniel; Gao, Fuying; Isaacs, Charles; Strawser, Cassandra; Yang, Zhongan; Dokuru, Deepika; Van Berlo, Victoria; Sears, Renee; Farmer, Jennifer; Perlman, Susan; Lynch, David R.; Coppola, Giovanni 分享 收藏
Tissue-specific DNA methylation is conserved across human, mouse, and rat, and driven by primary sequence conservation Zhou, Jia; Sears, Renee L.; Xing, Xiaoyun; Zhang, Bo; Li, Daofeng; Rockweiler, Nicole B.; Jang, Hyo Sik; Choudhary, Mayank N. K.; Lee, Hyung Joo; Lowdon, Rebecca F.; Arand, Jason; Tabers, Brianne; Gu, C. Charles; Cicero, Theodore J.; Wang, Ting 分享 收藏
Common variants in ABCA7 and MS4A6A are associated with cortical and hippocampal atrophy Ramirez, Leslie M.; Goukasian, Naira; Porat, Shai; Hwang, Kristy S.; Eastman, Jennifer A.; Hurtz, Sona; Wang, Benjamin; Vang, Nouchee; Sears, Renee; Klein, Eric; Coppola, Giovanni; Apostolova, Liana G. 分享 收藏
Mutations in XPR1 cause primary familial brain calcification associated with altered phosphate export Legati, Andrea; Giovannini, Donatella; Nicolas, Gael; Lopez-Sanchez, Uriel; Quintans, Beatriz; Oliveira, Joao R. M.; Sears, Renee L.; Ramos, Eliana Marisa; Spiteri, Elizabeth; Sobrido, Maria-Jesus; Carracedo, Angel; Castro-Fernandez, Cristina; Cubizolle, Stephanie; Fogel, Brent L.; Goizet, Cyril; Jen, Joanna C.; Kirdlarp, Suppachok; Lang, Anthony E.; Miedzybrodzka, Zosia; Mitarnun, Witoon; Paucar, Martin; Paulson, Henry; Pariente, Jeremie; Richard, Anne-Claire; Salins, Naomi S.; Simpson, Sheila A.; Striano, Pasquale; Svenningsson, Per; Tison, Francois; Unni, Vivek K.; Vanakker, Olivier; Wessels, Marja W.; Wetchaphanphesat, Suppachok; Yang, Michele; Boller, Francois; Campion, Dominique; Hannequin, Dither; Sitbon, Marc; Geschwind, Daniel H.; Battini, Jean-Luc; Coppola, Giovanni 分享 收藏
Epigenomic annotation of genetic variants using the Roadmap Epigenome Browser Zhou, Xin; Li, Daofeng; Zhang, Bo; Lowdon, Rebecca F.; Rockweiler, Nicole B.; Sears, Renee L.; Madden, Pamela A. F.; Smirnov, Ivan; Costello, Joseph F.; Wang, Ting 分享 收藏
An Epigenetic Signature in Peripheral Blood Associated with the Haplotype on 17q21.31, a Risk Factor for Neurodegenerative Tauopathy Li, Yun; Chen, Jason A.; Sears, Renee L.; Gao, Fuying; Klein, Eric D.; Karydas, Anna; Geschwind, Michael D.; Rosen, Howard J.; Boxer, Adam L.; Guo, Weilong; Pellegrini, Matteo; Horvath, Steve; Miller, Bruce L.; Geschwind, Daniel H.; Coppola, Giovanni 分享 收藏
Mutations in the gene encoding PDGF-B cause brain calcifications in humans and mice Keller, Annika; Westenberger, Ana; Sobrido, Maria J.; Garcia-Murias, Maria; Domingo, Aloysius; Sears, Renee L.; Lemos, Roberta R.; Ordonez-Ugalde, Andres; Nicolas, Gael; Gomes da Cunha, Jose E.; Rushing, Elisabeth J.; Hugelshofer, Michael; Wurnig, Moritz C.; Kaech, Andres; Reimann, Regina; Lohmann, Katja; Dobricic, Valerija; Carracedo, Angel; Petrovic, Igor; Miyasaki, Janis M.; Abakumova, Irina; Mae, Maarja Andaloussi; Raschperger, Elisabeth; Zatz, Mayana; Zschiedrich, Katja; Klepper, Jorg; Spiteri, Elizabeth; Prieto, Jose M.; Navas, Inmaculada; Preuss, Michael; Dering, Carmen; Jankovic, Milena; Paucar, Martin; Svenningsson, Per; Saliminejad, Kioomars; Khorshid, Hamid R. K.; Novakovic, Ivana; Aguzzi, Adriano; Boss, Andreas; Le Ber, Isabelle; Defer, Gilles; Hannequin, Didier; Kostic, Vladimir S.; Campion, Dominique; Geschwind, Daniel H.; Coppola, Giovanni; Betsholtz, Christer; Klein, Christine; Oliveira, Joao R. M. 分享 收藏
Evidence for a role of the rare p.A152T variant in MAPT in increasing the risk for FTD-spectrum and Alzheimers diseases Coppola, Giovanni; Chinnathambi, Subashchandrabose; Lee, Jason JiYong; Dombroski, Beth A.; Baker, Matt C.; Soto-Ortolaza, Alexandra I.; Lee, Suzee E.; Klein, Eric; Huang, Alden Y.; Sears, Renee; Lane, Jessica R.; Karydas, Anna M.; Kenet, Robert O.; Biernat, Jacek; Wang, Li-San; Cotman, Carl W.; DeCarli, Charles S.; Levey, Allan I.; Ringman, John M.; Mendez, Mario F.; Chui, Helena C.; Le Ber, Isabelle; Brice, Alexis; Lupton, Michelle K.; Preza, Elisavet; Lovestone, Simon; Powell, John; Graff-Radford, Neill; Petersen, Ronald C.; Boeve, Bradley F.; Lippa, Carol F.; Bigio, Eileen H.; Mackenzie, Ian; Finger, Elizabeth; Kertesz, Andrew; Caselli, Richard J.; Gearing, Marla; Juncos, Jorge L.; Ghetti, Bernardino; Spina, Salvatore; Bordelon, Yvette M.; Tourtellotte, Wallace W.; Frosch, Matthew P.; Vonsattel, Jean Paul G.; Zarow, Chris; Beach, Thomas G.; Albin, Roger L.; Lieberman, Andrew P.; Lee, Virginia M.; Trojanowski, John Q.; Van Deerlin, Vivianna M.; Bird, Thomas D.; Galasko, Douglas R.; Masliah, Eliezer; White, Charles L.; Troncoso, Juan C.; Hannequin, Didier; Boxer, Adam L.; Geschwind, Michael D.; Kumar, Satish; Mandelkow, Eva-Maria; Wszolek, Zbigniew K.; Uitti, Ryan J.; Dickson, Dennis W.; Haines, Jonathan L.; Mayeux, Richard; Pericak-Vance, Margaret A.; Farrer, Lindsay A.; Ross, Owen A.; Rademakers, Rosa; Schellenberg, Gerard D.; Miller, Bruce L.; Mandelkow, Eckhard; Geschwind, Daniel H. 分享 收藏
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