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TITLE: Structural and non-coding variants increase the diagnostic yield of clinical whole genome sequencing for rare diseases  Full Text
AUTHORS: 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; Banos Pinero, 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; Nemeth, 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, Noemi; 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.; ...More
PUBLISHED: 2023, SOURCE: GENOME MEDICINE, VOLUME: 15, ISSUE: 1
INDEXED IN: Scopus WOS
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TITLE: In Situ TEM Investigation of Electron Irradiation Induced Metastable States in Lithium-Ion Battery Cathodes: Li2FeSiO4 versus LiFePO4
AUTHORS: Bin Wei; Xia Lu; Frederic Voisard; Huijing J Wei; Hsien Chieh Chiu; Yuan Ji; Xiaodong D Han; Michel L Trudeau; Karim Zaghib; George P Demopoulos; Raynald Gauvin;
PUBLISHED: 2018, SOURCE: ACS APPLIED ENERGY MATERIALS, VOLUME: 1, ISSUE: 7
INDEXED IN: Scopus WOS
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TITLE: The EuroMyositis registry: An international collaborative tool to facilitate myositis research
AUTHORS: James B Lilleker; Jiri Vencovsky; Guochun Wang; Lucy R Wedderburn; Louise Pyndt Diederichsen; Jens Schmidt; Paula Oakley; Olivier Benveniste; Maria Giovanna Danieli; Katalin Danko; Nguyen Thi Phuong Thuy; Monica Vazquez Del Mercado; Helena Andersson; Boel De Paepe; Jan L DeBleecker; Britta Maurer; Liza J McCann; Nicolo Pipitone; Neil McHugh; Zoe E Betteridge; Paul New; Robert G Cooper; William E Ollier; Janine A Lamb; Niels Steen Krogh; Ingrid E Lundberg; Hector Chinoy; Sophie D'Hose; Xin Lu; Xiaolan Tian; Herman Mann; Olga Kryštufková; Lenka Pleštilová; Martin Klein; Tereza Barochová; Katerina Kubínová; Chiara Gelardi; Veronica Pedini; Paolo Cardinaletti; Luis J Jara; Miguel A Saavedra; Claudia V Cruz Reyes; Olga Vera Lastra; Lilia Andrade Ortega; Gabriel Medrano Ramírez; Minoru Satoh; Mario Salazar Páramo; Eduardo Gomez Bañuelos; Jorge Aguilar Arreola; Sergio Durán Barragán; Rosa Elena Navarro Hernandez; Marcelo H Petri; Øyvind Molberg; Maryam Dastmalchi; Antonella Notarnicola; Karina Gheorghe; Johan Rönnelid; Maria Liden; Balsam Hanna; Awat Jalal; Helena Hellström; Jehns Christian Martineus; Nguyen Thi Ngoc Lan; Leonid Padyukov; Hazel Platt; Simon Rothwell; Yasmeen Ahmed; Raymond Armstrong; Robert Bernstein; Carol Black; Simon Bowman; Ian Bruce; Robin Butler; John Carty; Chandra Chattopadhyay; Easwaradhas Chelliah; Fiona Clarke; Peter Dawes; Christopher Denton; Joseph Devlin; Christopher Edwards; Paul Emery; John Fordham; Alexander Fraser; Hill Gaston; Patrick Gordon; Bridget Griffiths; Harsha Gunawardena; Frances Hall; Michael Hanna; Beverley Harrison; Elaine Hay; David Hilton Jones; Lesley Horden; John Isaacs; David Isenberg; Adrian Jones; Sanjeet Kamath; Thomas Kennedy; George Kitas; ...More
PUBLISHED: 2018, SOURCE: Annals of the Rheumatic Diseases, VOLUME: 77, ISSUE: 1
INDEXED IN: Scopus CrossRef: 148
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TITLE: The Volume of Three-Dimensional Cultures of Cancer Cells In Vitro Influences Transcriptional Profile Differences and Similarities with Monolayer Cultures and Xenografted Tumors
AUTHORS: Erwin R Boghaert; Xin Lu; Paul E Hessler; Thomas P McGonigal; Anatol Oleksijew; Michael J Mitten; Kelly Foster Duke; Jonathan A Hickson; Vitor E Santo; Catarina Brito; Tamar Uziel; Kedar S Vaidya;
PUBLISHED: 2017, SOURCE: NEOPLASIA, VOLUME: 19, ISSUE: 9
INDEXED IN: Scopus WOS CrossRef
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TITLE: Distributed Birefringence Measurements Using Polarisation Correlation in Phase-Sensitive OTDR
AUTHORS: Hugo F Martins ; Xin Lu; Marcelo A Soto; Miguel Gonzalez Herraez; Luc Thevenaz;
PUBLISHED: 2014, SOURCE: European Conference on Optical Communication (ECOC) in 2014 EUROPEAN CONFERENCE ON OPTICAL COMMUNICATION (ECOC)
INDEXED IN: WOS