학술논문
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'학술논문'
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Report
Cif, L; Demailly, D; Lin, JP; Barwick, KE; Sa, M; Abela, L; Malhotra, S; Chong, WK; Steel, D; Sanchis-Juan, A; Ngoh, A; Trump, N; Meyer, E; Vasques, X; Rankin, J; Allain, MW; Applegate, CD; Isfahani, S Attaripour; Baleine, J; Balint, B; Bassetti, JA; Baple, EL; Bhatia, KP; Blanchet, C; Burglen, L; Cambonie, G; Seng, EC; Bastaraud, SC; Cyprien, F; Coubes, C; d'Hardemare, V; Study, Deciphering Developmental Disorders; Doja, A; Dorison, N; Doummar, D; Dy-Hollins, ME; Farrelly, E; Fitzpatrick, DR; Fearon, C; Fieg, EL; Fogel, BL; Forman, EB; Fox, RG; Consortium, Genomics England Research; Gahl, WA; Galosi, S; Gonzalez, V; Graves, TD; Gregory, A; Hallett, M; Hasegawa, H; Hayflick, SJ; Hamosh, A; Hully, M; Jansen, S; Jeong, SY; Krier, JB; Krystal, S; Kumar, KR; Laurencin, C; Lee, H; Lesca, G; François, LL; Lynch, T; Mahant, N; Martinez-Agosto, JA; Milesi, C; Mills, KA; Mondain, M; Morales-Briceno, H; BioResource, NIHR; Ostergaard, JR; Pal, S; Pallais, JC; Pavillard, F; Perrigault, PF; Petersen, AK; Polo, G; Poulen, G; Rinne, T; Roujeau, T; Rogers, C; Roubertie, A; Sahagian, M; Schaefer, E; Selim, L; Selway, R; Sharma, N; Signer, R; Soldatos, AG; Stevenson, DA; Stewart, F; Tchan, M; Network, Undiagnosed Diseases; Verma, IC; de Vries, BBA; Wilson, JL; Wong, DA; Zaitoun, R; Zhen, D; Znaczko, A; Dale, RC; de Gusmão, CM; Friedman, J; Fung, VSC; King, MD; Mohammad, SS; Rohena, L; Waugh, JL; Toro, C; Raymond, FL; Topf, M; Coubes, P; Gorman, KM; Kurian, MA
Brain. 2020 Dec 5;143(11):3242-3261
Academic Journal
Máire Ní Leathlobhair; Anna Frangou; Ben Kinnersley; Alex J. Cornish; Daniel Chubb; Eszter Lakatos; Prabhu Arumugam; Andreas J. Gruber; Philip Law; Avraam Tapinos; G. Maria Jakobsdottir; Iliana Peneva; Atef Sahli; Evie M. Smyth; Richard Y. Ball; Rushan Sylva; Ksenija Benes; Dan Stark; Robin J. Young; Alexander T. J. Lee; Vincent Wolverson; Richard S. Houlston; Alona Sosinsky; Andrew Protheroe; Matthew J. Murray; David C. Wedge; Clare Verrill; Testicular Cancer Genomics England Clinical Interpretation Partnership Consortium; Genomics England Research Consortium
Nature Communications, Vol 15, Iss 1, Pp 1-13 (2024)
Academic Journal
Huayu Zhang; Johan H. Thygesen; Ting Shi; Georgios V. Gkoutos; Harry Hemingway; Bruce Guthrie; Honghan Wu; Genomics England Research Consortium
Orphanet Journal of Rare Diseases, Vol 17, Iss 1, Pp 1-7 (2022)
Academic Journal
Omayma Al-Saei; Samantha Malka; Nicholas Owen; Elbay Aliyev; Fazulur Rehaman Vempalli; Paulina Ocieczek; Bashayer Al-Khathlan; Genomics England Research Consortium; Khalid Fakhro; Mariya Moosajee
BMC Genomics , Vol 25, Iss 1, Pp 1-19 (2024)
Academic Journal
Genomics England Research Consortium; Olinger, Eric; Schaeffer, Celine; Kidd, Kendrah; Elhassan, Elhussein A. E.; Cheng, Yurong; Dufour, Inès; Schiano, Guglielmo; Mabillard, Holly; Pasqualetto, Elena; Hofmann, Patrick; Fuster, Daniel G.; Kistler, Andreas D.; Wilson, Ian J.; Kmoch, Stanislav; Raymond, Laure; Robert, Thomas; Eckardt, Kai-Uwe; Bleyer, Anthony J.; Köttgen, Anna; Conlon, Peter J.; Wiesener, Michael; Sayer, John A.; Rampoldi, Luca; Devuyst, Olivier
Proceedings of the National Academy of Sciences of the United States of America, 2022 Aug . 119(33), 1-11.
Academic Journal
Nirmal Vadgama; Mohamed Ameen; Laksshman Sundaram; Sadhana Gaddam; Casey Gifford; Jamal Nasir; Ioannis Karakikes; Genomics England Research Consortium
Human Genomics , Vol 19, Iss 1, Pp 1-1 (2025)
Academic Journal
Orr S; Translational and Clinical Research Institute, Faculty of Medical Sciences, Newcastle University, Newcastle upon Tyne, UK.; Olinger E; Translational and Clinical Research Institute, Faculty of Medical Sciences, Newcastle University, Newcastle upon Tyne, UK.; Iosifidou S; Translational and Clinical Research Institute, Faculty of Medical Sciences, Newcastle University, Newcastle upon Tyne, UK.; Barroso-Gil M; Translational and Clinical Research Institute, Faculty of Medical Sciences, Newcastle University, Newcastle upon Tyne, UK.; Neatu R; Translational and Clinical Research Institute, Faculty of Medical Sciences, Newcastle University, Newcastle upon Tyne, UK.; Wood K; Histopathology Department, The Newcastle upon Tyne Hospitals NHS Foundation Trust, Newcastle upon Tyne, UK.; Wilson I; Biosciences Institute, Faculty of Medical Sciences, Newcastle University, Newcastle upon Tyne, UK.; Sayer JA; Translational and Clinical Research Institute, Faculty of Medical Sciences, Newcastle University, Newcastle upon Tyne, UK.; Renal Services Centre, The Newcastle upon Tyne Hospitals NHS Foundation Trust, Newcastle upon Tyne, UK.; National Institute for Health Research Newcastle Biomedical Research Centre, Newcastle upon Tyne, UK.
Publisher: Wiley-Blackwell Country of Publication: England NLM ID: 0416661 Publication Model: Print-Electronic Cited Medium: Internet ISSN: 1469-1809 (Electronic) Linking ISSN: 00034800 NLM ISO Abbreviation: Ann Hum Genet Subsets: MEDLINE
Academic Journal
Charlie Rowlands; Huw B. Thomas; Jenny Lord; Htoo A. Wai; Gavin Arno; Glenda Beaman; Panagiotis Sergouniotis; Beatriz Gomes-Silva; Christopher Campbell; Nicole Gossan; Claire Hardcastle; Kevin Webb; Christopher O’Callaghan; Robert A. Hirst; Simon Ramsden; Elizabeth Jones; Jill Clayton-Smith; Andrew R. Webster; Genomics England Research Consortium; Andrew G. L. Douglas; Raymond T. O’Keefe; William G. Newman; Diana Baralle; Graeme C. M. Black; Jamie M. Ellingford
Scientific Reports, Vol 11, Iss 1, Pp 1-11 (2021)
Academic Journal
Prima Sanjaya; Katri Maljanen; Riku Katainen; Sebastian M. Waszak; Genomics England Research Consortium; Lauri A. Aaltonen; Oliver Stegle; Jan O. Korbel; Esa Pitkänen
Genome Medicine, Vol 15, Iss 1, Pp 1-18 (2023)
Academic Journal
Victor Lopez Soriano; Alfredo Dueñas Rey; Rajarshi Mukherjee; Genomics England Research Consortium; Frauke Coppieters; Miriam Bauwens; Andy Willaert; Elfride De Baere
Nature Communications, Vol 15, Iss 1, Pp 1-14 (2024)
Academic Journal
William Cross; Iben Lyskjær; Tom Lesluyes; Steven Hargreaves; Anna-Christina Strobl; Christopher Davies; Sara Waise; Shadi Hames-Fathi; Dahmane Oukrif; Hongtao Ye; Fernanda Amary; Roberto Tirabosco; Craig Gerrand; Toby Baker; David Barnes; Christopher Steele; Ludmil Alexandrov; Gareth Bond; Genomics England Research Consortium; Paul Cool; Nischalan Pillay; Peter Van Loo; Adrienne M. Flanagan
Genome Medicine, Vol 14, Iss 1, Pp 1-12 (2022)
Academic Journal
Jurkute, Neringa; Shanmugarajah, Priya D; Hadjivassiliou, Marios; Higgs, Jenny; Vojcic, Miodrag; Horrocks, Iain; Nadjar, Yann; Touitou, Valerie; Lenaers, Guy; Poh, Roy; Acheson, James; Robson, Anthony G; Raymond, F Lucy; Reilly, Mary M; Yu-Wai-Man, Patrick; Moore, Anthony T; Webster, Andrew R; Arno, Gavin; Consortium, for the Genomics England Research
Invest Ophthalmol Vis Sci
Investigative Ophthalmology & Visual Science, vol 62, iss 6
Investigative Ophthalmology & Visual Science, vol 62, iss 6
Report
Early Detection Research Network; Clinical Genomics Pathology; VolitionRx; Department of Health and Human Services; Great Lakes New England Clinical Validation Center; National Cancer Institute (NCI)
Evaluation of Stool Based Markers for the Early Detection of Colorectal Cancers and Adenomas
Academic Journal
Alfredo Dueñas Rey; Marta del Pozo Valero; Manon Bouckaert; Katherine A Wood; Filip Van den Broeck; Malena Daich Varela; Huw B Thomas; Mattias Van Heetvelde; Marieke De Bruyne; Stijn Van de Sompele; Miriam Bauwens; Hanne Lenaerts; Quinten Mahieu; Dragana Josifova; Genomics England Research Consortium; Carlo Rivolta; Raymond T O’Keefe; Jamie Ellingford; Andrew R Webster; Gavin Arno; Carmen Ayuso; Julie De Zaeytijd; Bart P Leroy; Elfride De Baere; Frauke Coppieters
Genome Medicine, Vol 16, Iss 1, Pp 1-21 (2024)
Academic Journal
Oliver, Eales; Andrew J, Page; Sonja N, Tang; Caroline E, Walters; Haowei, Wang; David, Haw; Alexander J, Trotter; Thanh, Le Viet; Ebenezer, Foster-Nyarko; Sophie, Prosolek; Christina, Atchison; Deborah, Ashby; Graham, Cooke; Wendy, Barclay; Christl A, Donnelly; Justin, O'Grady; Erik, Volz; The Covid-Genomics Uk Cog-Uk Consortium; Ara, Darzi; Helen, Ward; Paul, Elliott; Steven, Riley
Microb Genom
Academic Journal
Shepherdson, James L; Hutchison, Katie; Don, Dilan Wellalage; McGillivray, George; Choi, Tae-Ik; Allan, Carolyn A; Amor, David J; Banka, Siddharth; Basel, Donald G; Buch, Laura D; Carere, Deanna Alexis; Carroll, Renée; Clayton-Smith, Jill; Crawford, Ali; Dunø, Morten; Faivre, Laurence; Gilfillan, Christopher P; Gold, Nina B; Gripp, Karen W; Hobson, Emma; Holtz, Alexander M; Innes, A Micheil; Isidor, Bertrand; Jackson, Adam; Katsonis, Panagiotis; Amel Riazat Kesh, Leila; Genomics England Research Consortium; Küry, Sébastien; Lecoquierre, François; Lockhart, Paul; Maraval, Julien; Matsumoto, Naomichi; McCarrier, Julie; McCarthy, Josephine; Miyake, Noriko; Moey, Lip Hen; Németh, Andrea H; Østergaard, Elsebet; Patel, Rushina; Pope, Kate; Posey, Jennifer E; Schnur, Rhonda E; Shaw, Marie; Stolerman, Elliot; Taylor, Julie P; Wadman, Erin; Wakeling, Emma; White, Susan M; Wong, Lawrence C; Lupski, James R; Lichtarge, Olivier; Corbett, Mark A; Gecz, Jozef; Nicolet, Charles M; Farnham, Peggy J; Kim, Cheol-Hee; Shinawi, Marwan
Academic Journal
Greene, Daniel; Genomics England Research Consortium; Pirri, Daniela; Frudd, Karen; Sackey, Ege; Al-Owain, Mohammed; Giese, Arnaud PJ; Ramzan, Khushnooda; Riaz, Sehar; Yamanaka, Itaru; Boeckx, Nele; Thys, Chantal; Gelb, Bruce D; Brennan, Paul; Hartill, Verity; Harvengt, Julie; Kosho, Tomoki; Mansour, Sahar; Masuno, Mitsuo; Ohata, Takako; Stewart, Helen; Taibah, Khalid; Turner, Claire LS; Imtiaz, Faiqa; Riazuddin, Saima; Morisaki, Takayuki; Ostergaard, Pia; Loeys, Bart L; Morisaki, Hiroko; Ahmed, Zubair M; Birdsey, Graeme M; Freson, Kathleen; Mumford, Andrew; Turro, Ernest
Nat Med
Nature Medicine, 29, 3, pp. 679-688
Nature medicine
Nature Medicine, 29, 3, pp. 679-688
Nature medicine
Academic Journal
Shovlin, CL; Patel, D; Bielowka, A; Ledermann, JA; Modarresi, A; Genomics England Res Consortium, ME; Bernabeu-Herrero, ME; Aldred, MA; Alsafi, A
British Journal of Haematology. 204:361-365
Academic Journal
Philippa C. May; Alistair G. Reid; Mark E. Robinson; Jamshid S. Khorashad; Dragana Milojkovic; Simone Claudiani; Genomics England Research Consortium; Fenella Willis; Jane F. Apperley; Andrew J. Innes
BMC Medical Genomics , Vol 16, Iss 1, Pp 1-6 (2023)
Academic Journal
Birch, Rebecca J.; Peckham, Daniel; Wood, Henry M.; Quirke, Philip; Konstant-Hambling, Rob; Brownlee, Keith; Cosgriff, Rebecca; Consortium, Genomics England Research; Burr, Nicholas; Downing, Amy
Journal of Cystic Fibrosis. 22(3):499-504
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