학술논문
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'학술논문'
에서 검색결과 263건 | 목록
1~20
Academic Journal
Jung, Hyunchul; Yang, Tsun-Po; Walker, Susan; Danecek, Petr; Garcia-Salinas, O. Isaac; Neville, Matthew D. C.; Christopher, Joseph; Cortés-Ciriano, Isidro; Firth, Helen; Scally, Aylwyn; Hurles, Matthew; Campbell, Peter; Rahbari, Raheleh
Nature Communications. 16(1)
Academic Journal
Qin Qin Huang; Emilie M. Wigdor; Daniel S. Malawsky; Patrick Campbell; Kaitlin E. Samocha; V. Kartik Chundru; Petr Danecek; Sarah Lindsay; Thomas Marchant; Mahmoud Koko; Sana Amanat; Davide Bonfanti; Eamonn Sheridan; Elizabeth J. Radford; Jeffrey C. Barrett; Caroline F. Wright; Helen V. Firth; Varun Warrier; Alexander Strudwick Young; Matthew E. Hurles; Hilary C. Martin
Nature
Academic Journal
V. Kartik Chundru; Zhancheng Zhang; Klaudia Walter; Sarah J. Lindsay; Petr Danecek; Ruth Y. Eberhardt; Eugene J. Gardner; Daniel S. Malawsky; Emilie M. Wigdor; Rebecca Torene; Kyle Retterer; Caroline F. Wright; Hildur Ólafsdóttir; Maria J. Guillen Sacoto; Akif Ayaz; Ismail Hakki Akbeyaz; Dilşad Türkdoğan; Aaisha Ibrahim Al Balushi; Aida Bertoli-Avella; Peter Bauer; Emmanuelle Szenker-Ravi; Bruno Reversade; Kirsty McWalter; Eamonn Sheridan; Helen V. Firth; Matthew E. Hurles; Kaitlin E. Samocha; Vincent D. Ustach; Hilary C. Martin
Nat Genet
Academic Journal
Chen, Yuyang; Dawes, Ruebena; Kim, Hyung Chul; Ljungdahl, Alicia; Stenton, Sarah L.; Walker, Susan; Lord, Jenny; Lemire, Gabrielle; Martin-Geary, Alexandra C.; Ganesh, Vijay S.; Ma, Jialan; Ellingford, Jamie M.; Delage, Erwan; D’Souza, Elston N.; Dong, Shan; Adams, David R.; Allan, Kirsten; Bakshi, Madhura; Baldwin, Erin E.; Berger, Seth I.; Bernstein, Jonathan A.; Bhatnagar, Ishita; Blair, Ed; Brown, Natasha J.; Burrage, Lindsay C.; Chapman, Kimberly; Coman, David J.; Compton, Alison G.; Cunningham, Chloe A.; D’Souza, Precilla; Danecek, Petr; Délot, Emmanuèle C.; Dias, Kerith-Rae; Elias, Ellen R.; Elmslie, Frances; Evans, Care-Anne; Ewans, Lisa; Ezell, Kimberly; Fraser, Jamie L.; Gallacher, Lyndon; Genetti, Casie A.; Goriely, Anne; Grant, Christina L.; Haack, Tobias; Higgs, Jenny E.; Hinch, Anjali G.; Hurles, Matthew E.; Kuechler, Alma; Lachlan, Katherine L.; Lalani, Seema R.; Lecoquierre, François; Leitão, Elsa; Fevre, Anna Le; Leventer, Richard J.; Liebelt, Jan E.; Lindsay, Sarah; Lockhart, Paul J.; Ma, Alan S.; Macnamara, Ellen F.; Mansour, Sahar; Maurer, Taylor M.; Mendez, Hector R.; Metcalfe, Kay; Montgomery, Stephen B.; Moosajee, Mariya; Nassogne, Marie-Cécile; Neumann, Serena; O’Donoghue, Michael; O’Leary, Melanie; Palmer, Elizabeth E.; Pattani, Nikhil; Phillips, John; Pitsava, Georgia; Pysar, Ryan; Rehm, Heidi L.; Reuter, Chloe M.; Revencu, Nicole; Riess, Angelika; Rius, Rocio; Rodan, Lance; Roscioli, Tony; Rosenfeld, Jill A.; Sachdev, Rani; Shaw-Smith, Charles J.; Simons, Cas; Sisodiya, Sanjay M.; Snell, Penny; St Clair, Laura; Stark, Zornitza; Stewart, Helen S.; Tan, Tiong Yang; Tan, Natalie B.; Temple, Suzanna E. L.; Thorburn, David R.; Tifft, Cynthia J.; Uebergang, Eloise; VanNoy, Grace E.; Vasudevan, Pradeep; Vilain, Eric; Viskochil, David H.; Wedd, Laura; Wheeler, Matthew T.; White, Susan M.; Wojcik, Monica; Wolfe, Lynne A.; Wolfenson, Zoe; Wright, Caroline F.; Xiao, Changrui; Zocche, David; Rubenstein, John L.; Markenscoff-Papadimitriou, Eirene; Fica, Sebastian M.; Baralle, Diana; Depienne, Christel; MacArthur, Daniel G.; Howson, Joanna M. M.; Sanders, Stephan J.; O’Donnell-Luria, Anne; Whiffin, Nicola
Nature: International weekly journal of science. 632(8026):832-840
Academic Journal
Petr Danecek; Amy Hough; John Wright; Karen Ho; Nicholas J. Timpson; Sarah J. Lindsay; Davide Bonfanti; Daniel S. Malawsky; Rafaq Azad; Deborah Plowman; Sara Widaa; Gemma Shireby; Emla Fitzsimons; David Bann; Matthew E. Hurles; Hilary C. Martin; Susan M. Ring; Dan Mason; Michael A. Quail; Wei Huang; Vivek Iyer; Mahmoud Koko; Iaroslav Popov; Laurie Fabian; Gennadii Zakharov; Ruth Y. Eberhardt; Emma E. Wade; Qin Qin Huang
Wellcome Open Research, Vol 9 (2024)
Academic Journal
Danecek, Petr ; Gardner, Eugene J. ; Fitzgerald, Tomas W. ; Gallone, Giuseppe ; Kaplanis, Joanna ; Eberhardt, Ruth Y. ; Wright, Caroline F. ; Firth, Helen V. ; Hurles, Matthew E.
In Genetics in Medicine Open 2024 2
Academic Journal
Academic Journal
In Cell Genomics 12 April 2023 3(4)
Academic Journal
Scheib, C. L.; Li, Hongjie; Desai, Tariq; Link, Vivian; Kendall, Christopher; Dewar, Genevieve; Griffith, Peter William; Mörseburg, Alexander; Johnson, John R.; Potter, Amiee; Kerr, Susan L.; Endicott, Phillip; Lindo, John; Haber, Marc; Xue, Yali; Tyler-Smith, Chris; Sandhu, Manjinder S.; Lorenz, Joseph G.; Randall, Tori D.; Faltyskova, Zuzana; Pagani, Luca; Danecek, Petr; O’Connell, Tamsin C.; Martz, Patricia; Boraas, Alan S.; Byrd, Brian F.; Leventhal, Alan; Cambra, Rosemary; Williamson, Ronald; Lesage, Louis; Holguin, Brian; Soto, Ernestine Ygnacio-De; Rosas, JohnTommy; Metspalu, Mait; Stock, Jay T.; Manica, Andrea; Scally, Aylwyn; Wegmann, Daniel; Malhi, Ripan S.; Kivisild, Toomas
Science, 2018 Jun 01. 360(6392), 1024-1027.
Academic Journal
Joanna Kaplanis; Benjamin Ide; Rashesh Sanghvi; Matthew Neville; Petr Danecek; Tim Coorens; Elena Prigmore; Patrick Short; Giuseppe Gallone; Jeremy McRae; Loukas Moutsianas; Chris Odhams; Jenny Carmichael; Angela Barnicoat; Helen Firth; Patrick O’Brien; Raheleh Rahbari; Matthew Hurles
Nature
Academic Journal
Huang, Qinqin; Wigdor, Emilie; Campbell, Patrick; Malawsky, Daniel; Samocha, Kaitlin; Chundru, Kartik; Danecek, Petr; Radford, Elizabeth; Barrett, Jeffrey; Wright, Caroline; Firth, Helen; Warrier, Varun; Young, Alexander; Hurles, Matt; Martin, Hilary
European Neuropsychopharmacology. 87:61-61
Academic Journal
Davis J. McCarthy; Raghd Rostom; Yuanhua Huang; Daniel J. Kunz; Petr Danecek; Marc Jan Bonder; Tzachi Hagai; Ruqian Lyu; Wenyi Wang; Daniel J. Gaffney; Benjamin D. Simons; Oliver Stegle; Sarah A. Teichmann
Nature Methods. 17:414-421
Academic Journal
Rouhani, Foad J.; Zou, Xueqing; Danecek, Petr; Badja, Cherif; Amarante, Tauanne Dias; Koh, Gene; Wu, Qianxin; Memari, Yasin; Durbin, Richard; Martincorena, Inigo; Bassett, Andrew R.; Gaffney, Daniel; Nik-Zainal, Serena
Nature Genetics. 54(9):1406-1416
Academic Journal
Wright, Caroline F. ; Quaife, Nicholas M. ; Ramos-Hernández, Laura ; Danecek, Petr ; Ferla, Matteo P. ; Samocha, Kaitlin E. ; Kaplanis, Joanna ; Gardner, Eugene J. ; Eberhardt, Ruth Y. ; Chao, Katherine R. ; Karczewski, Konrad J. ; Morales, Joannella ; Gallone, Giuseppe ; Balasubramanian, Meena ; Banka, Siddharth ; Gompertz, Lianne ; Kerr, Bronwyn ; Kirby, Amelia ; Lynch, Sally A. ; Morton, Jenny E.V. ; Pinz, Hailey ; Sansbury, Francis H. ; Stewart, Helen ; Zuccarelli, Britton D. ; Cook, Stuart A. ; Taylor, Jenny C. ; Juusola, Jane ; Retterer, Kyle ; Firth, Helen V. ; Hurles, Matthew E. ; Lara-Pezzi, Enrique ; Barton, Paul J.R. ; Whiffin, Nicola
In The American Journal of Human Genetics 3 June 2021 108(6):1083-1094
Academic Journal
V. Kartik Chundru; Zhancheng Zhang; Klaudia Walter; Sarah Lindsay; Petr Danecek; Ruth Y. Eberhardt; Eugene J. Gardner; Daniel S. Malawsky; Emilie M. Wigdor; Rebecca Torene; Kyle Retterer; Caroline F. Wright; Kirsty McWalter; Eamonn Sheridan; Helen V. Firth; Matthew E. Hurles; Kaitlin E. Samocha; Vincent D. Ustach; Hilary C. Martin
Academic Journal
Joanna Kaplanis; Kaitlin E. Samocha; Laurens Wiel; Zhancheng Zhang; Kevin J. Arvai; Ruth Y. Eberhardt; Giuseppe Gallone; Stefan H. Lelieveld; Hilary C. Martin; Jeremy F. McRae; Patrick J. Short; Rebecca I. Torene; Elke de Boer; Petr Danecek; Eugene J. Gardner; Ni Huang; Jenny Lord; Iñigo Martincorena; Rolph Pfundt; Margot R. F. Reijnders; Alison Yeung; Helger G. Yntema; Silvia Borras; Caroline Clark; John Dean; Zosia Miedzybrodzka; Alison Ross; Stephen Tennant; Tabib Dabir; Deirdre Donnelly; Mervyn Humphreys; Alex Magee; Vivienne McConnell; Shane McKee; Susan McNerlan; Patrick J. Morrison; Gillian Rea; Fiona Stewart; Trevor Cole; Nicola Cooper; Lisa Cooper-Charles; Helen Cox; Lily Islam; Joanna Jarvis; Rebecca Keelagher; Derek Lim; Dominic McMullan; Jenny Morton; Swati Naik; Mary O’Driscoll; Kai-Ren Ong; Deborah Osio; Nicola Ragge; Sarah Turton; Julie Vogt; Denise Williams; Simon Bodek; Alan Donaldson; Alison Hills; Karen Low; Ruth Newbury-Ecob; Andrew M. Norman; Eileen Roberts; Ingrid Scurr; Sarah Smithson; Madeleine Tooley; Steve Abbs; Ruth Armstrong; Carolyn Dunn; Simon Holden; Soo-Mi Park; Joan Paterson; Lucy Raymond; Evan Reid; Richard Sandford; Ingrid Simonic; Marc Tischkowitz; Geoff Woods; Lisa Bradley; Joanne Comerford; Andrew Green; Sally Lynch; Shirley McQuaid; Brendan Mullaney; Jonathan Berg; David Goudie; Eleni Mavrak; Joanne McLean; Catherine McWilliam; Eleanor Reavey; Tara Azam; Elaine Cleary; Andrew Jackson; Wayne Lam; Anne Lampe; David Moore; Mary Porteous; Emma Baple; Júlia Baptista; Carole Brewer; Bruce Castle; Emma Kivuva; Martina Owens; Julia Rankin; Charles Shaw-Smith; Claire Turner; Peter Turnpenny; Carolyn Tysoe; Therese Bradley; Rosemarie Davidson; Carol Gardiner; Shelagh Joss; Esther Kinning; Cheryl Longman; Ruth McGowan; Victoria Murday; Daniela Pilz; Edward Tobias; Margo Whiteford; Nicola Williams; Angela Barnicoat; Emma Clement; Francesca Faravelli; Jane Hurst; Lucy Jenkins; Wendy Jones; V. K. Ajith Kumar; Melissa Lees; Sam Loughlin; Alison Male; Deborah Morrogh; Elisabeth Rosser; Richard Scott; Louise Wilson; Ana Beleza; Charu Deshpande; Frances Flinter; Muriel Holder; Melita Irving; Louise Izatt; Dragana Josifova; Shehla Mohammed; Aneta Molenda; Leema Robert; Wendy Roworth; Deborah Ruddy; Mina Ryten; Shu Yau; Christopher Bennett; Moira Blyth; Jennifer Campbell; Andrea Coates; Angus Dobbie; Sarah Hewitt; Emma Hobson; Eilidh Jackson; Rosalyn Jewell; Alison Kraus; Katrina Prescott; Eamonn Sheridan; Jenny Thomson; Kirsty Bradshaw; Abhijit Dixit; Jacqueline Eason; Rebecca Haines; Rachel Harrison; Stacey Mutch; Ajoy Sarkar; Claire Searle; Nora Shannon; Abid Sharif; Mohnish Suri; Pradeep Vasudevan; Natalie Canham; Ian Ellis; Lynn Greenhalgh; Emma Howard; Victoria Stinton; Andrew Swale; Astrid Weber; Siddharth Banka; Catherine Breen; Tracy Briggs; Emma Burkitt-Wright; Kate Chandler; Jill Clayton-Smith; Dian Donnai; Sofia Douzgou; Lorraine Gaunt; Elizabeth Jones; Bronwyn Kerr; Claire Langley; Kay Metcalfe; Audrey Smith; Ronnie Wright; David Bourn; John Burn; Richard Fisher; Steve Hellens; Alex Henderson; Tara Montgomery; Miranda Splitt; Volker Straub; Michael Wright; Simon Zwolinski; Zoe Allen; Birgitta Bernhard; Angela Brady; Claire Brooks; Louise Busby; Virginia Clowes; Neeti Ghali; Susan Holder; Rita Ibitoye; Emma Wakeling; Edward Blair; Jenny Carmichael; Deirdre Cilliers; Susan Clasper; Richard Gibbons; Usha Kini; Tracy Lester; Andrea Nemeth; Joanna Poulton; Sue Price; Debbie Shears; Helen Stewart; Andrew Wilkie; Shadi Albaba; Duncan Baker; Meena Balasubramanian; Diana Johnson; Michael Parker; Oliver Quarrell; Alison Stewart; Josh Willoughby; Charlene Crosby; Frances Elmslie; Tessa Homfray; Huilin Jin; Nayana Lahiri; Sahar Mansour; Karen Marks; Meriel McEntagart; Anand Saggar; Kate Tatton-Brown; Rachel Butler; Angus Clarke; Sian Corrin; Andrew Fry; Arveen Kamath; Emma McCann; Hood Mugalaasi; Caroline Pottinger; Annie Procter; Julian Sampson; Francis Sansbury; Vinod Varghese; Diana Baralle; Alison Callaway; Emma J. Cassidy; Stacey Daniels; Andrew Douglas; Nicola Foulds; David Hunt; Mira Kharbanda; Katherine Lachlan; Catherine Mercer; Lucy Side; I. Karen Temple; Diana Wellesley; Lisenka E. L. M. Vissers; Jane Juusola; Caroline F. Wright; Han G. Brunner; Helen V. Firth; David R. FitzPatrick; Jeffrey C. Barrett; Matthew E. Hurles; Christian Gilissen; Kyle Retterer
Nature
Nature, 586, 7831, pp. 757-762
Kaplanis, J, Samocha, KE, Wiel, L, Zhang, Z, Arvai, KJ, Eberhardt, RY, Gallone, G, Lelieveld, SH, Martin, HC, McRae, JF, Short, PJ, Torene, RI, de, B E & Retterer, K 2020, ' Evidence for 28 genetic disorders discovered by combining healthcare and research data ', Nature, vol. 586, no. 7831, pp. 757-762 . https://doi.org/10.1038/s41586-020-2832-5
Nature, 586, 7831, pp. 757-762
Kaplanis, J, Samocha, KE, Wiel, L, Zhang, Z, Arvai, KJ, Eberhardt, RY, Gallone, G, Lelieveld, SH, Martin, HC, McRae, JF, Short, PJ, Torene, RI, de, B E & Retterer, K 2020, ' Evidence for 28 genetic disorders discovered by combining healthcare and research data ', Nature, vol. 586, no. 7831, pp. 757-762 . https://doi.org/10.1038/s41586-020-2832-5
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