학술논문
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'학술논문'
에서 검색결과 157건 | 목록
1~20
Academic Journal
Lunke, Sebastian; Downie, Lilian; Caruana, Jade; Kugenthiran, Nathasha; De Fazio, Paul; Hollizeck, Sebastian; Bouffler, Sophie E.; Amor, David J.; Archibald, Alison D.; Bombard, Yvonne; Christodoulou, John; Clausen, Marc; Fagan, Wendy; Gaff, Clara; Greaves, Ronda F.; Gyngell, Christopher; Kanga-Parabia, Anaita; Lang, Nitzan; Lee, Crystle; Lynch, Fiona; Marty, Anthony; Marty, Melanie; McGregor, Candice; Riseley, Jessica; Sadedin, Simon; Scarff, Katrina; da Cunha Torres, Michelle; Tutty, Erin; Vang, Ching; Wall, Meaghan; Wong, Ee Ming; Yeung, Alison; Goranitis, Ilias; Best, Stephanie; Vears, Danya F.; Stark, Zornitza
Nature Medicine. :1-10
Academic Journal
Mohammed Alshawsh; Melissa Wake; Jozef Gecz; Mark Corbett; Richard Saffery; James Pitt; Ronda Greaves; Katrina Williams; Michael Field; Jeanie Cheong; Minh Bui; Sheena Arora; Simon Sadedin; Sebastian Lunke; Meg Wall; David J Amor; David E Godler
Epigenomics
Academic Journal
Matthew J Welland; K.D. Ahlquist; Paul De Fazio; Christina Austin-Tse; Lynn Pais; Laura Wedd; Samantha Bryen; Rocio Rius; Michael Franklin; Caitlin Morrison; Giles Hall; Laura Gauthier; Alex Bloemendal; David I Francis; Andrew J Mallett; Amali Mallawaarachchi; Paul J Lockhart; Richard Leventer; Ingrid E Scheffer; Katherine B Howell; Karin S Kassahn; Hamish S Scott; Julie McGaughran; John Christodoulou; David R Thorburn; Bryony A Thompson; Chirag V Patel; Greg Smith; Anne O’Donnell-Luria; Simon Sadedin; Heidi L Rehm; Sebastian Lunke; Jeremiah Wander; Kaitlin E Samocha; Cas Simons; Daniel G MacArthur; Zornitza Stark
medRxiv
Academic Journal
Zornitza Stark; Sebastian Lunke; Lilian Downie; Jade Caruana; Nathasha Kugenthiran; Paul De Fazio; Sebastian Hollizeck; Sophie Bouffler; David Amor; Alison Archibald; Yvonne Bombard; John Christodoulou; Marc Clausen; Wendy Fagan; Clara Gaff; Ronda Greaves; Christopher Gyngell; Anaita Kanga-Parabia; Nitzan Lang; Crystle Lee; Fiona Lynch; Anthony Marty; Melanie Marty; Candice McGregor; Jessica Riseley; Simon Sadedin; Katrina Scarffe; Michelle da Cunha Torres; Erin Tutty; Ching Vang; Meaghan Wall; Ee Ming Wong; Alison Yeung; Ilias Goranitis; Stephanie Best; Danya Vears
Academic Journal
Mordaunt, Dylan A. ; Gonzalez, Francisco Santos ; Lunke, Sebastian ; Eggers, Stefanie ; Sadedin, Simon ; Chong, Belinda ; Dalziel, Kim ; Stark, Zornitza ; Goranitis, Ilias
In Genetics in Medicine April 2024 26(4)
Academic Journal
Eur J Hum Genet
Academic Journal
Clin Transl Sci
Clinical and Translational Science, Vol 17, Iss 8, Pp n/a-n/a (2024)
Clinical and Translational Science, Vol 17, Iss 8, Pp n/a-n/a (2024)
Academic Journal
Lunke, Sebastian; Bouffler, Sophie E.; Patel, Chirag V.; Sandaradura, Sarah A.; Wilson, Meredith; Pinner, Jason; Hunter, Matthew F.; Barnett, Christopher P.; Wallis, Mathew; Kamien, Benjamin; Tan, Tiong Y.; Freckmann, Mary-Louise; Chong, Belinda; Phelan, Dean; Francis, David; Kassahn, Karin S.; Ha, Thuong; Gao, Song; Arts, Peer; Jackson, Matilda R.; Scott, Hamish S.; Eggers, Stefanie; Rowley, Simone; Boggs, Kirsten; Rakonjac, Ana; Brett, Gemma R.; de Silva, Michelle G.; Springer, Amanda; Ward, Michelle; Stallard, Kirsty; Simons, Cas; Conway, Thomas; Halman, Andreas; Van Bergen, Nicole J.; Sikora, Tim; Semcesen, Liana N.; Stroud, David A.; Compton, Alison G.; Thorburn, David R.; Bell, Katrina M.; Sadedin, Simon; North, Kathryn N.; Christodoulou, John; Stark, Zornitza
Nature Medicine. 29(7):1681-1691
Academic Journal
Akesson, Lauren; Allcock, Richard; Ashton, Katie; Bell, Damon A.; Brown, Anna; Buckley, Michael; Burnett, John R.; Burrows, Linda; Byrne, Alicia; Chan, Eva; Cliffe, Corrina; Clifton-Bligh, Roderick; Dooley, Susan; Fernandez, Miriam Fanjul; Farnsworth, Elizabeth; Ha, Thuong; Henry, Denae; Holds, Duncan; Holman, Katherine; Jackson, Matilda; Kang, Sinlay; Luxford, Catherine; McManus, Sam; Mehrtens, Rachael; Meldrum, Cliff; Mossman, David; Pantaleo, Sarah-Jane; Phelan, Dean; Pontikinas, Electra; Ravine, Anja; Roscioli, Tony; Scott, Rodney; Simons, Keryn; Vanwageningen, Oliver; Tudini, Emma ; Andrews, James ; Lawrence, David M. ; King-Smith, Sarah L. ; Baker, Naomi ; Baxter, Leanne ; Beilby, John ; Bennetts, Bruce ; Beshay, Victoria ; Black, Michael ; Boughtwood, Tiffany F. ; Brion, Kristian ; Cheong, Pak Leng ; Christie, Michael ; Christodoulou, John ; Chong, Belinda ; Cox, Kathy ; Davis, Mark R. ; Dejong, Lucas ; Dinger, Marcel E. ; Doig, Kenneth D. ; Douglas, Evelyn ; Dubowsky, Andrew ; Ellul, Melissa ; Fellowes, Andrew ; Fisk, Katrina ; Fortuno, Cristina ; Friend, Kathryn ; Gallagher, Renee L. ; Gao, Song ; Hackett, Emma ; Hadler, Johanna ; Hipwell, Michael ; Ho, Gladys ; Hollway, Georgina ; Hooper, Amanda J. ; Kassahn, Karin S. ; Krishnaraj, Rahul ; Lau, Chiyan ; Le, Huong ; San Leong, Huei ; Lundie, Ben ; Lunke, Sebastian ; Marty, Anthony ; McPhillips, Mary ; Nguyen, Lan T. ; Nones, Katia ; Palmer, Kristen ; Pearson, John V. ; Quinn, Michael C.J. ; Rawlings, Lesley H. ; Sadedin, Simon ; Sanchez, Louisa ; Schreiber, Andreas W. ; Sigalas, Emanouil ; Simsek, Aygul ; Soubrier, Julien ; Stark, Zornitza ; Thompson, Bryony A. ; U, James ; Vakulin, Cassandra G. ; Wells, Amanda V. ; Wise, Cheryl A. ; Woods, Rick ; Ziolkowski, Andrew ; Brion, Marie-Jo ; Scott, Hamish S. ; Thorne, Natalie P. ; Spurdle, Amanda B.
In The American Journal of Human Genetics 3 November 2022 109(11):1960-1973
Academic Journal
Lee, Crystle; Hollizeck, Sebastian; de Fazio, Paul; Roesley, Ain; Chong, Belinda; Sadedin, Simon; Lunke, Sebastian
Pathology. 57:S17-S17
Academic Journal
Adam M. Bournazos; Lisa G. Riley; Shobhana Bommireddipalli; Lesley Ades; Lauren S. Akesson; Mohammad Al-Shinnag; Stephen I. Alexander; Alison D. Archibald; Shanti Balasubramaniam; Yemima Berman; Victoria Beshay; Kirsten Boggs; Jasmina Bojadzieva; Natasha J. Brown; Samantha J. Bryen; Michael F. Buckley; Belinda Chong; Mark R. Davis; Ruebena Dawes; Martin Delatycki; Liz Donaldson; Lilian Downie; Caitlin Edwards; Matthew Edwards; Amanda Engel; Lisa J. Ewans; Fathimath Faiz; Andrew Fennell; Michael Field; Mary-Louise Freckmann; Lyndon Gallacher; Russell Gear; Himanshu Goel; Shuxiang Goh; Linda Goodwin; Bernadette Hanna; James Harraway; Megan Higgins; Gladys Ho; Bruce K. Hopper; Ari E. Horton; Matthew F. Hunter; Aamira J. Huq; Sarah Josephi-Taylor; Himanshu Joshi; Edwin Kirk; Emma Krzesinski; Kishore R. Kumar; Frances Lemckert; Richard J. Leventer; Suzanna E. Lindsey-Temple; Sebastian Lunke; Alan Ma; Steven Macaskill; Amali Mallawaarachchi; Melanie Marty; Justine E. Marum; Hugh J. McCarthy; Manoj P. Menezes; Alison McLean; Di Milnes; Shekeeb Mohammad; David Mowat; Aram Niaz; Elizabeth E. Palmer; Chirag Patel; Shilpan G. Patel; Dean Phelan; Jason R. Pinner; Sulekha Rajagopalan; Matthew Regan; Jonathan Rodgers; Miriam Rodrigues; Richard H. Roxburgh; Rani Sachdev; Tony Roscioli; Ruvishani Samarasekera; Sarah A. Sandaradura; Elena Savva; Tim Schindler; Margit Shah; Ingrid B. Sinnerbrink; Janine M. Smith; Richard J. Smith; Amanda Springer; Zornitza Stark; Samuel P. Strom; Carolyn M. Sue; Kenneth Tan; Tiong Y. Tan; Esther Tantsis; Michel C. Tchan; Bryony A. Thompson; Alison H. Trainer; Karin van Spaendonck-Zwarts; Rebecca Walsh; Linda Warwick; Stephanie White; Susan M. White; Mark G. Williams; Meredith J. Wilson; Wui Kwan Wong; Dale C. Wright; Patrick Yap; Alison Yeung; Helen Young; Kristi J. Jones; Bruce Bennetts; Sandra T. Cooper; Ghusoon Abdulrasool; Ghamdan Al Eryani; Peer Arts; Richard Bagnall; Naomi L. Baker; Christopher Barnett; Sarah Beecroft; Marina Berbic; Michael Black; Jim Blackburn; Piers Blombery; Susan Branford; Jimmy Breen; Leslie Burnett; Daffodil Canson; Pak Cheong; Edward Chew; John Christodoulou; Seo-Kyung Chung; Mike Clark; Corrina Cliffe; Melissa Cole; Felicity Collins; Alison Compton; Antony Cooper; Mark Corbett; Mark Cowley; Tracy Dudding; Stefanie Eggers; Eduardo Eyras; Miriam Fanjul Fernandez; Andrew Fellowes; Ron Fleischer; Chiara Folland; Lucy Fox; Clara Gaff; Melanie Galea; Roula Ghaoui; Ilias Gornanitis; Thuong Ha; Rippei Hayashi; Ian Hayes; Alex Henderson; Luke Hesson; Erin Heyer; Michael Hildebrand; Michael Hipwell; Cass Hoskins; Matilda Jackson; Paul James; Justin Jong-Leong Wong; Karin Kassahn; Peter Kaub; Lucy Kevin; Smitha Kumble; Sarah Kummerfeld; Nigel Laing; Chiyan Lau; Eric Lee; Sarah Leighton; Ben Lundie; Chelsea Mayoh; Julie McGaughran; Mary McPhillips; Cliff Meldrum; Edwina Middleton; Kym Mina; Amy Nisselle; Emily Oates; Alicia Oshlack; Gayathri Parasivam; Michael Parsons; Michael Quinn; John Rasko; Gina Ravenscroft; Anja Ravine; Krista Recsei; Jacqueline Rehn; Stephen Robertson; Anne Ronan; Georgina Ryland; Simon Sadedin; Andreas Schreiber; Hamish Scott; Rodney Scott; Christopher Semsarian; Cas Simons; Emma Singer; Renee Smyth; Amanda Spurdle; Patricia Sullivan; Samantha Sundercombe; David Thorburn; John Toubia; Ronald Trent; Emma Tudini; Irina Voneague; Leigh Waddell; Logan Walker; Mathew Wallis; Nick Warnock; Robert Weatheritt; Deborah White; Ingrid Winship; Lisa Worgan; Kathy Wu; Andrew Ziolowski
Genetics in Medicine. 24:130-145
Academic Journal
Thomas Cloney; Lyndon Gallacher; Lynn S Pais; Natalie B Tan; Alison Yeung; Zornitza Stark; Natasha J Brown; George McGillivray; Martin B Delatycki; Michelle G de Silva; Lilian Downie; Chloe A Stutterd; Justine Elliott; Alison G Compton; Alysia Lovgren; Ralph Oertel; David Francis; Katrina M Bell; Simon Sadedin; Sze Chern Lim; Guy Helman; Cas Simons; Daniel G Macarthur; David R Thorburn; Anne H O'Donnell-Luria; John Christodoulou; Susan M White; Tiong Yang Tan
Journal of Medical Genetics. 59:748-758
Academic Journal
John Christodoulou; Christopher Gyngell; Stephanie Best; Clara Gaff; Zornitza Stark; Ilias Goranitis; Marc Clausen; Yvonne Bombard; Lilian Downie; Sebastian Lunke; David J Amor; Alison Yeung; Simon Sadedin; Fiona Lynch; Sophie E Bouffler; Danya F Vears; Jade Caruana; Alison Archibald; Paul De Fazio; Ronda F Greaves; Sebastian Hollizeck; Anaita Kanga-Parabia; Nitzan Lang; Riccarda Peters; Erin Tutty; Stefanie Eggers; Crystle Lee; Meaghan Wall
BMJ Open, Vol 14, Iss 4 (2024)
Academic Journal
Sophie, Sleiman; Aren E, Marshall; Xiaomin, Dong; Aziz, Mhanni; Ismaël, Alidou-D'Anjou; Patrick, Frosk; Samantha E, Marin; Zornitza, Stark; Marc R, Del Bigio; Arran, McBride; Simon, Sadedin; Lyndon, Gallacher; John, Christodoulou; Kym M, Boycott; François, Dragon; Kristin D, Kernohan
Human Molecular Genetics. 31:614-624
Academic Journal
Susan M. White; Elizabeth Bhoj; Christoffer Nellåker; Augusta M.A. Lachmeijer; Aren E. Marshall; Kym M. Boycott; Dong Li; Wendy Smith; Taila Hartley; Arran McBride; Michelle E. Ernst; Alison S. May; Dagmar Wieczorek; Rami Abou Jamra; Margarete Koch-Hogrebe; Katrin Õunap; Sander Pajusalu; K.L.I. van Gassen; Simon Sadedin; Sara Ellingwood; Tiong Yang Tan; John Christodoulou; Jaime Barea; Paul J. Lockhart; Marjan M. Nezarati; Kristin D. Kernohan
The American Journal of Human Genetics. 108:749-756
Academic Journal
Stephenson, Sarah E.M. ; Costain, Gregory ; Blok, Laura E.R. ; Silk, Michael A. ; Nguyen, Thanh Binh ; Dong, Xiaomin ; Alhuzaimi, Dana E. ; Dowling, James J. ; Walker, Susan ; Amburgey, Kimberly ; Hayeems, Robin Z. ; Rodan, Lance H. ; Schwartz, Marc A. ; Picker, Jonathan ; Lynch, Sally A. ; Gupta, Aditi ; Rasmussen, Kristen J. ; Schimmenti, Lisa A. ; Klee, Eric W. ; Niu, Zhiyv ; Agre, Katherine E. ; Chilton, Ilana ; Chung, Wendy K. ; Revah-Politi, Anya ; Au, P.Y. Billie ; Griffith, Christopher ; Racobaldo, Melissa ; Raas-Rothschild, Annick ; Ben Zeev, Bruria ; Barel, Ortal ; Moutton, Sebastien ; Morice-Picard, Fanny ; Carmignac, Virginie ; Cornaton, Jenny ; Marle, Nathalie ; Devinsky, Orrin ; Stimach, Chandler ; Wechsler, Stephanie Burns ; Hainline, Bryan E. ; Sapp, Katie ; Willems, Marjolaine ; Bruel, Ange-line ; Dias, Kerith-Rae ; Evans, Carey-Anne ; Roscioli, Tony ; Sachdev, Rani ; Temple, Suzanna E.L. ; Zhu, Ying ; Baker, Joshua J. ; Scheffer, Ingrid E. ; Gardiner, Fiona J. ; Schneider, Amy L. ; Muir, Alison M. ; Mefford, Heather C. ; Crunk, Amy ; Heise, Elizabeth M. ; Millan, Francisca ; Monaghan, Kristin G. ; Person, Richard ; Rhodes, Lindsay ; Richards, Sarah ; Wentzensen, Ingrid M. ; Cogné, Benjamin ; Isidor, Bertrand ; Nizon, Mathilde ; Vincent, Marie ; Besnard, Thomas ; Piton, Amelie ; Marcelis, Carlo ; Kato, Kohji ; Koyama, Norihisa ; Ogi, Tomoo ; Goh, Elaine Suk-Ying ; Richmond, Christopher ; Amor, David J. ; Boyce, Jessica O. ; Morgan, Angela T. ; Hildebrand, Michael S. ; Kaspi, Antony ; Bahlo, Melanie ; Friðriksdóttir, Rún ; Katrínardóttir, Hildigunnur ; Sulem, Patrick ; Stefánsson, Kári ; Björnsson, Hans Tómas ; Mandelstam, Simone ; Morleo, Manuela ; Mariani, Milena ; Scala, Marcello ; Accogli, Andrea ; Torella, Annalaura ; Capra, Valeria ; Wallis, Mathew ; Jansen, Sandra ; Waisfisz, Quinten ; de Haan, Hugoline ; Sadedin, Simon ; Lim, Sze Chern ; White, Susan M. ; Ascher, David B. ; Schenck, Annette ; Lockhart, Paul J. ; Christodoulou, John ; Tan, Tiong Yang
In The American Journal of Human Genetics 7 April 2022 109(4):601-617
Academic Journal
Frazier, Ann E. ; Compton, Alison G. ; Kishita, Yoshihito ; Hock, Daniella H. ; Welch, AnneMarie E. ; Amarasekera, Sumudu S.C. ; Rius, Rocio ; Formosa, Luke E. ; Imai-Okazaki, Atsuko ; Francis, David ; Wang, Min ; Lake, Nicole J. ; Tregoning, Simone ; Jabbari, Jafar S. ; Lucattini, Alexis ; Nitta, Kazuhiro R. ; Ohtake, Akira ; Murayama, Kei ; Amor, David J. ; McGillivray, George ; Wong, Flora Y. ; van der Knaap, Marjo S. ; Vermeulen, R. Jeroen ; Wiltshire, Esko J. ; Fletcher, Janice M. ; Lewis, Barry ; Baynam, Gareth ; Ellaway, Carolyn ; Balasubramaniam, Shanti ; Bhattacharya, Kaustuv ; Freckmann, Mary-Louise ; Arbuckle, Susan ; Rodriguez, Michael ; Taft, Ryan J. ; Sadedin, Simon ; Cowley, Mark J. ; Minoche, André E. ; Calvo, Sarah E. ; Mootha, Vamsi K. ; Ryan, Michael T. ; Okazaki, Yasushi ; Stroud, David A. ; Simons, Cas ; Christodoulou, John ; Thorburn, David R.
In Med 15 January 2021 2(1):49-73
Academic Journal
Castilla-Vallmanya, Laura ; Selmer, Kaja K. ; Dimartino, Clémantine ; Rabionet, Raquel ; Blanco-Sánchez, Bernardo ; Yang, Sandra ; Reijnders, Margot R.F. ; van Essen, Antonie J. ; Oufadem, Myriam ; Vigeland, Magnus D. ; Stadheim, Barbro ; Houge, Gunnar ; Cox, Helen ; Kingston, Helen ; Clayton-Smith, Jill ; Innis, Jeffrey W. ; Iascone, Maria ; Cereda, Anna ; Gabbiadini, Sara ; Chung, Wendy K. ; Sanders, Victoria ; Charrow, Joel ; Bryant, Emily ; Millichap, John ; Vitobello, Antonio ; Thauvin, Christel ; Mau-Them, Frederic Tran ; Faivre, Laurence ; Lesca, Gaetan ; Labalme, Audrey ; Rougeot, Christelle ; Chatron, Nicolas ; Sanlaville, Damien ; Christensen, Katherine M. ; Kirby, Amelia ; Lewandowski, Raymond ; Gannaway, Rachel ; Aly, Maha ; Lehman, Anna ; Clarke, Lorne ; Graul-Neumann, Luitgard ; Zweier, Christiane ; Lessel, Davor ; Lozic, Bernarda ; Aukrust, Ingvild ; Peretz, Ryan ; Stratton, Robert ; Smol, Thomas ; Dieux-Coëslier, Anne ; Meira, Joanna ; Wohler, Elizabeth ; Sobreira, Nara ; Beaver, Erin M. ; Heeley, Jennifer ; Briere, Lauren C. ; High, Frances A. ; Sweetser, David A. ; Walker, Melissa A. ; Keegan, Catherine E. ; Jayakar, Parul ; Shinawi, Marwan ; Kerstjens-Frederikse, Wilhelmina S. ; Earl, Dawn L. ; Siu, Victoria M. ; Reesor, Emma ; Yao, Tony ; Hegele, Robert A. ; Vaske, Olena M. ; Rego, Shannon ; Shapiro, Kevin A. ; Wong, Brian ; Gambello, Michael J. ; McDonald, Marie ; Karlowicz, Danielle ; Colombo, Roberto ; Serretti, Alessandro ; Pais, Lynn ; O’Donnell-Luria, Anne ; Wray, Alison ; Sadedin, Simon ; Chong, Belinda ; Tan, Tiong Y. ; Christodoulou, John ; White, Susan M. ; Slavotinek, Anne ; Barbouth, Deborah ; Morel Swols, Dayna ; Parisot, Mélanie ; Bole-Feysot, Christine ; Nitschké, Patrick ; Pingault, Véronique ; Munnich, Arnold ; Cho, Megan T. ; Cormier-Daire, Valérie ; Balcells, Susanna ; Lyonnet, Stanislas ; Grinberg, Daniel ; Amiel, Jeanne ; Urreizti, Roser ; Gordon, Christopher T.
In Genetics in Medicine July 2020 22(7):1215-1226
Academic Journal
Le, Thuy-Linh ; Sribudiani, Yunia ; Dong, Xiaomin ; Huber, Céline ; Kois, Chelsea ; Baujat, Geneviève ; Gordon, Christopher T. ; Mayne, Valerie ; Galmiche, Louise ; Serre, Valérie ; Goudin, Nicolas ; Zarhrate, Mohammed ; Bole-Feysot, Christine ; Masson, Cécile ; Nitschké, Patrick ; Verheijen, Frans W. ; Pais, Lynn ; Pelet, Anna ; Sadedin, Simon ; Pugh, John A. ; Shur, Natasha ; White, Susan M. ; El Chehadeh, Salima ; Christodoulou, John ; Cormier-Daire, Valérie ; Hofstra, R.M.W. ; Lyonnet, Stanislas ; Tan, Tiong Yang ; Attié-Bitach, Tania ; Kerstjens-Frederikse, Wilhelmina S. ; Amiel, Jeanne ; Thomas, Sophie
In The American Journal of Human Genetics 4 June 2020 106(6):779-792
Academic Journal
Tan, Tiong Yang ; Sedmík, Jiří ; Fitzgerald, Mark P. ; Halevy, Rivka Sukenik ; Keegan, Liam P. ; Helbig, Ingo ; Basel-Salmon, Lina ; Cohen, Lior ; Straussberg, Rachel ; Chung, Wendy K. ; Helal, Mayada ; Maroofian, Reza ; Houlden, Henry ; Juusola, Jane ; Sadedin, Simon ; Pais, Lynn ; Howell, Katherine B. ; White, Susan M. ; Christodoulou, John ; O’Connell, Mary A.
In The American Journal of Human Genetics 2 April 2020 106(4):467-483
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