학술논문
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'학술논문'
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1~20
Academic Journal
Clinical and Translational Science, Vol 17, Iss 8, Pp n/a-n/a (2024)
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
Lachlan A. Jolly; Euan Parnell; Alison E. Gardner; Mark A. Corbett; Luis A. Pérez-Jurado; Marie Shaw; Gaetan Lesca; Catherine Keegan; Michael C. Schneider; Emily Griffin; Felicitas Maier; Courtney Kiss; Andrea Guerin; Kathleen Crosby; Kenneth Rosenbaum; Pranoot Tanpaiboon; Sandra Whalen; Boris Keren; Julie McCarrier; Donald Basel; Simon Sadedin; Susan M. White; Martin B. Delatycki; Tjitske Kleefstra; Sébastien Küry; Alfredo Brusco; Elena Sukarova-Angelovska; Slavica Trajkova; Sehoun Yoon; Stephen A. Wood; Michael Piper; Peter Penzes; Jozef Gecz
npj Genomic Medicine, Vol 5, Iss 1, Pp 1-11 (2020)
Academic Journal
Harriet Dashnow; Monkol Lek; Belinda Phipson; Andreas Halman; Simon Sadedin; Andrew Lonsdale; Mark Davis; Phillipa Lamont; Joshua S. Clayton; Nigel G. Laing; Daniel G. MacArthur; Alicia Oshlack
Genome Biology, Vol 19, Iss 1, Pp 1-13 (2018)
Academic Journal
Sebastian Lunke; Lilian Downie; Jade Caruana; Nathasha Kugenthiran; Paul De Fazio; Sebastian Hollizeck; Sophie E. Bouffler; David J. Amor; Alison D. Archibald; Yvonne Bombard; John Christodoulou; Marc Clausen; Wendy Fagan; Clara Gaff; Ronda F. Greaves; Christopher Gyngell; Anaita Kanga-Parabia; Nitzan Lang; Crystle Lee; Fiona Lynch; Anthony Marty; Melanie Marty; Candice McGregor; Jessica Riseley; Simon Sadedin; Katrina Scarff; Michelle da Cunha Torres; Erin Tutty; Ching Vang; Meaghan Wall; Ee Ming Wong; Alison Yeung; Ilias Goranitis; Stephanie Best; Danya F. Vears; Zornitza Stark
Nature Medicine.
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
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
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
Eur J Hum Genet
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
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
Tiong Yang Tan; Sebastian Lunke; Belinda Chong; Dean Phelan; Miriam Fanjul-Fernandez; Justine E. Marum; Vanessa Siva Kumar; Zornitza Stark; Alison Yeung; Natasha J. Brown; Chloe Stutterd; Martin B. Delatycki; Simon Sadedin; Melissa Martyn; Ilias Goranitis; Natalie Thorne; Clara L. Gaff; Susan M. White
European Journal of Human Genetics. 27:1791-1799
Academic Journal
Dylan A. Mordaunt; Francisco Santos Gonzalez; Sebastian Lunke; Stefanie Eggers; Simon Sadedin; Belinda Chong; Kim Dalziel; Zornitza Stark; Ilias Goranitis
Genetics in Medicine. 26:101058
Academic Journal
Guy M. Lenk; Ian R. Berry; Chloe A. Stutterd; Moira Blyth; Lydia Green; Gayatri Vadlamani; Daniel Warren; Ian Craven; Miriam Fanjul-Fernandez; Victoria Rodriguez-Casero; Paul J. Lockhart; Adeline Vanderver; Cas Simons; Susan Gibb; Simon Sadedin; Susan M. White; John Christodoulou; Olga Skibina; Jonathan Ruddle; Tiong Y. Tan; Richard J. Leventer; John H. Livingston; Miriam H. Meisler
Human Mutation. 40:619-630
Academic Journal
Zornitza Stark; Harriet Dashnow; Sebastian Lunke; Tiong Y Tan; Alison Yeung; Simon Sadedin; Natalie Thorne; Ivan Macciocca; Clara Gaff; Alicia Oshlack; Susan M White; Paul A James
European Journal of Human Genetics. 25:1268-1272
Academic Journal
Leigh B. Waddell; Samantha J. Bryen; Beryl B. Cummings; Adam Bournazos; Frances J. Evesson; Himanshu Joshi; Jamie L. Marshall; Taru Tukiainen; Elise Valkanas; Ben Weisburd; Simon Sadedin; Mark R. Davis; Fathimath Faiz; Rebecca Gooding; Sarah A. Sandaradura; Gina L. O'Grady; Michel C. Tchan; David R. Mowat; Emily C. Oates; Michelle A. Farrar; Hugo Sampaio; Alan Ma; Katherine Neas; Min-Xia Wang; Amanda Charlton; Charles Chan; Diane N. Kenwright; Nicole Graf; Susan Arbuckle; Nigel F. Clarke; Daniel G. MacArthur; Kristi J. Jones; Monkol Lek; Sandra T. Cooper
Neurol Genet
Academic Journal
Ann E. Frazier; Alison G. Compton; Yoshihito Kishita; Daniella H. Hock; AnneMarie E. Welch; Sumudu S.C. Amarasekera; Rocio Rius; Luke E. Formosa; Atsuko Imai-Okazaki; David Francis; Min Wang; Nicole J. Lake; Simone Tregoning; Jafar S. Jabbari; Alexis Lucattini; Kazuhiro R. Nitta; Akira Ohtake; Kei Murayama; David J. Amor; George McGillivray; Flora Y. Wong; Marjo S. van der Knaap; R. Jeroen Vermeulen; Esko J. Wiltshire; Janice M. Fletcher; Barry Lewis; Gareth Baynam; Carolyn Ellaway; Shanti Balasubramaniam; Kaustuv Bhattacharya; Mary-Louise Freckmann; Susan Arbuckle; Michael Rodriguez; Ryan J. Taft; Simon Sadedin; Mark J. Cowley; André E. Minoche; Sarah E. Calvo; Vamsi K. Mootha; Michael T. Ryan; Yasushi Okazaki; David A. Stroud; Cas Simons; John Christodoulou; David R. Thorburn
Frazier, A E, Compton, A G, Kishita, Y, Hock, D H, Welch, A M E, Amarasekera, S S C, Rius, R, Formosa, L E, Imai-Okazaki, A, Francis, D, Wang, M, Lake, N J, Tregoning, S, Jabbari, J S, Lucattini, A, Nitta, K R, Ohtake, A, Murayama, K, Amor, D J, McGillivray, G, Wong, F Y, van der Knaap, M S, Vermeulen, R J, Wiltshire, E J, Fletcher, J M, Lewis, B, Baynam, G, Ellaway, C, Balasubramaniam, S, Bhattacharya, K, Freckmann, M L, Arbuckle, S, Rodriguez, M, Taft, R J, Sadedin, S, Cowley, M J, Minoche, A E, Calvo, S E, Mootha, V K, Ryan, M T, Okazaki, Y, Stroud, D A, Simons, C, Christodoulou, J & Thorburn, D R 2021, 'Fatal Perinatal Mitochondrial Cardiac Failure Caused by Recurrent De Novo Duplications in the ATAD3 Locus', Med, vol. 2, no. 1, pp. 49-73.e10. https://doi.org/10.1016/j.medj.2020.06.004
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[AR] Simon Sadedin
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