Author,Title,Journal,ISSN,Publisher,Date,Volume,Number,Page,URL,URL(DOI)
"Pagnamenta, Alistair T. and Camps, Carme and Giacopuzzi, Edoardo and Taylor, John M. and Hashim, Mona and Calpena, Eduardo and Kaisaki, Pamela J. and Hashimoto, Akiko and Yu, Jing and Sanders, Edward and Schwessinger, Ron and Hughes, Jim R. and Lunter, Gerton and Dreau, Helene and Ferla, Matteo and Lange, Lukas and Kesim, Yesim and Ragoussis, Vassilis and Vavoulis, Dimitrios V. and Allroggen, Holger and Ansorge, Olaf and Babbs, Christian and Banka, Siddharth and Baños-Piñero, Benito and Beeson, David and Ben-Ami, Tal and Bennett, David L. and Bento, Celeste and Blair, Edward and Brasch-Andersen, Charlotte and Bull, Katherine R. and Cario, Holger and Cilliers, Deirdre and Conti, Valerio and Davies, E. Graham and Dhalla, Fatima and Dacal, Beatriz Diez and Dong, Yin and Dunford, James E. and Guerrini, Renzo and Harris, Adrian L. and Hartley, Jane and Hollander, Georg and Javaid, Kassim and Kane, Maureen and Kelly, Deirdre and Kelly, Dominic and Knight, Samantha J. L. and Kreins, Alexandra Y. and Kvikstad, Erika M. and Langman, Craig B. and Lester, Tracy and Lines, Kate E. and Lord, Simon R. and Lu, Xin and Mansour, Sahar and Manzur, Adnan and Maroofian, Reza and Marsden, Brian and Mason, Joanne and McGowan, Simon J. and Mei, Davide and Mlcochova, Hana and Murakami, Yoshiko and Németh, Andrea H. and Okoli, Steven and Ormondroyd, Elizabeth and Ousager, Lilian Bomme and Palace, Jacqueline and Patel, Smita Y. and Pentony, Melissa M. and Pugh, Chris and Rad, Aboulfazl and Ramesh, Archana and Riva, Simone G. and Roberts, Irene and Roy, Noémi and Salminen, Outi and Schilling, Kyleen D. and Scott, Caroline and Sen, Arjune and Smith, Conrad and Stevenson, Mark and Thakker, Rajesh V. and Twigg, Stephen R. F. and Uhlig, Holm H. and van Wijk, Richard and Vona, Barbara and Wall, Steven and Wang, Jing and Watkins, Hugh and Zak, Jaroslav and Schuh, Anna H. and Kini, Usha and Wilkie, Andrew O. M. and Popitsch, Niko and Taylor, Jenny C.",Structural and non-coding variants increase the diagnostic yield of clinical whole genome sequencing for rare diseases,Genome Medicine,1756-994X,Springer Science and Business Media LLC,2023-11-09,15,,,https://cir.nii.ac.jp/crid/1871428067748335872,https://doi.org/10.1186/s13073-023-01240-0