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Structural and non-coding variants increase the diagnostic yield of clinical whole genome sequencing for rare diseases
Pagnamenta, Alistair T., Camps, Carme, Giacopuzzi, Edoardo, Taylor, John M., Hashim, Mona, Calpena, Eduardo, Kaisaki, Pamela J., Hashimoto, Akiko, Yu, Jing, Sanders, Edward, Schwessinger, Ron, Hughes, Jim R., Lunter, Gerton, Dreau, Helene, Ferla, Matteo, Lange, Lukas, Kesim, Yesim, Ragoussis, Vassilis, Vavoulis, Dimitrios V., Allroggen, Holger, Ansorge, Olaf, Babbs, Christian, Banka, Siddharth, Baños-Piñero, Benito, Beeson, David, Ben-Ami, Tal, Bennett, David L., Bento, Celeste, Blair, Edward, Brasch-Andersen, Charlotte, Bull, Katherine R., Cario, Holger, Cilliers, Deirdre, Conti, Valerio, Davies, E. Graham, Dhalla, Fatima, Dacal, Beatriz Diez, Dong, Yin, Dunford, James E., Guerrini, Renzo, Harris, Adrian L., Hartley, Jane, Hollander, Georg, Javaid, Kassim, Kane, Maureen, Kelly, Deirdre, Kelly, Dominic, Knight, Samantha J. L., Kreins, Alexandra Y., Kvikstad, Erika M., Langman, Craig B., Lester, Tracy, Lines, Kate E., Lord, Simon R., Lu, Xin, Mansour, Sahar, Manzur, Adnan, Maroofian, Reza, Marsden, Brian, Mason, Joanne, McGowan, Simon J., Mei, Davide, Mlcochova, Hana, Murakami, Yoshiko, Németh, Andrea H., Okoli, Steven, Ormondroyd, Elizabeth, Ousager, Lilian Bomme, Palace, Jacqueline, Patel, Smita Y., Pentony, Melissa M., Pugh, Chris, Rad, Aboulfazl, Ramesh, Archana, Riva, Simone G., Roberts, Irene, Roy, Noémi, Salminen, Outi, Schilling, Kyleen D., Scott, Caroline, Sen, Arjune, Smith, Conrad, Stevenson, Mark, Thakker, Rajesh V., Twigg, Stephen R. F., Uhlig, Holm H., van Wijk, Richard, Vona, Barbara, Wall, Steven, Wang, Jing, Watkins, Hugh, Zak, Jaroslav, Schuh, Anna H., Kini, Usha, Wilkie, Andrew O. M., Popitsch, Niko, Taylor, Jenny C.
Published in Genome Medicine (09.11.2023)
Published in Genome Medicine (09.11.2023)
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Journal Article
Identification of a rare coding variant in complement 3 associated with age-related macular degeneration
Zhan, Xiaowei, Larson, David E, Wang, Chaolong, Koboldt, Daniel C, Sergeev, Yuri V, Fulton, Robert S, Fulton, Lucinda L, Fronick, Catrina C, Branham, Kari E, Bragg-Gresham, Jennifer, Jun, Goo, Hu, Youna, Kang, Hyun Min, Liu, Dajiang, Othman, Mohammad, Brooks, Matthew, Ratnapriya, Rinki, Boleda, Alexis, Grassmann, Felix, von Strachwitz, Claudia, Olson, Lana M, Buitendijk, Gabriëlle H S, Hofman, Albert, van Duijn, Cornelia M, Cipriani, Valentina, Moore, Anthony T, Shahid, Humma, Jiang, Yingda, Conley, Yvette P, Morgan, Denise J, Kim, Ivana K, Johnson, Matthew P, Cantsilieris, Stuart, Richardson, Andrea J, Guymer, Robyn H, Luo, Hongrong, Ouyang, Hong, Licht, Christoph, Pluthero, Fred G, Zhang, Mindy M, Zhang, Kang, Baird, Paul N, Blangero, John, Klein, Michael L, Farrer, Lindsay A, DeAngelis, Margaret M, Weeks, Daniel E, Gorin, Michael B, Yates, John R W, Klaver, Caroline C W, Pericak-Vance, Margaret A, Haines, Jonathan L, Weber, Bernhard H F, Wilson, Richard K, Heckenlively, John R, Chew, Emily Y, Stambolian, Dwight, Mardis, Elaine R, Swaroop, Anand, Abecasis, Goncalo R
Published in Nature genetics (01.11.2013)
Published in Nature genetics (01.11.2013)
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Journal Article
Comparison of image quality of 40 keV virtual monoenergetic images of vertebral arteries using DLIR and ASIR-V algorithms under a dual-low scanning protocol
Tang, Ying, Zhang, Haini, Chen, Lihui, Yu, Meng, Zhang, He, Zhang, Dapeng, Wu, Yang, Liu, Zhongxiao, Sun, Aiyun, Meng, Yankai, Xu, Kai
Published in European journal of radiology (01.10.2025)
Published in European journal of radiology (01.10.2025)
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Journal Article
Technical note: Evaluation of a V‐Net autosegmentation algorithm for pediatric CT scans: Performance, generalizability, and application to patient‐specific CT dosimetry
Adamson, Philip M., Bhattbhatt, Vrunda, Principi, Sara, Beriwal, Surabhi, Strain, Linda S., Offe, Michael, Wang, Adam S., Vo, Nghia‐Jack, Gilat Schmidt, Taly, Jordan, Petr
Published in Medical physics (Lancaster) (01.04.2022)
Published in Medical physics (Lancaster) (01.04.2022)
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Journal Article
A roadmap to integrate astrocytes into Systems Neuroscience
Kastanenka, Ksenia V., Moreno‐Bote, Rubén, De Pittà, Maurizio, Perea, Gertrudis, Eraso‐Pichot, Abel, Masgrau, Roser, Poskanzer, Kira E., Galea, Elena
Published in Glia (01.01.2020)
Published in Glia (01.01.2020)
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Journal Article
Generation of project solutions on choosing of mechanical assembly production of the Industry 4.0 using operators of genetic algorithms
Zakoldaev, D A, Gurjanov, A V, Shukalov, A V, Zharinov, I O
Published in IOP conference series. Materials Science and Engineering (01.06.2019)
Published in IOP conference series. Materials Science and Engineering (01.06.2019)
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Journal Article
Reducing both radiation and contrast doses in coronary CT angiography in lean patients on a 16-cm wide-detector CT using 70 kVp and ASiR-V algorithm, in comparison with the conventional 100-kVp protocol
Chen, Yuhuan, Liu, Zhentang, Li, Michelle, Yu, Yong, Jia, Yongjun, Ma, Guangming, Hu, Zhijun, Wei, DongHong, Li, Dou, He, Taiping
Published in European radiology (01.06.2019)
Published in European radiology (01.06.2019)
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Journal Article
The Near-Infrared Spectrograph (NIRSpec) on the James Webb Space Telescope: V. Optimal algorithms for planning multi-object spectroscopic observations
Bonaventura, N., Jakobsen, P., Ferruit, P., Arribas, S., Giardino, G.
Published in Astronomy and astrophysics (Berlin) (01.04.2023)
Published in Astronomy and astrophysics (Berlin) (01.04.2023)
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Journal Article