학술논문
'학술논문'
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Academic Journal
Azmanov, Dimitar N.; Barnett, Christopher P.; Barry, Simon C.; Baynam, Gareth; Berkovic, Samuel F.; Christodoulou, John; Coman, David J.; Cooper, Sandra; Corbett, Mark A.; Delatycki, Martin; Dudding, Tracy E.; Fletcher, Sue; Gardner, Alison E.; Gecz, Jozef; Higgins, Megan J.; Hildebrand, Michael S.; Jolly, Lachlan A.; Lister, Ryan; McGaughran, Julie; Pflueger, Christian; Poulton, Cathryn; Roscioli, Tony; Hamish S. Scott, Ingrid Scheffer; Sinclair, Andrew H.; Spurdle, Amanda B.; Tan, Tiong Y.; van Eyk, Clare L.; Voineagu, Irina; Nicolas-Martinez, Emmylou C.; Robinson, Olivia; Gardner, Alison; Ritchie, Tarin; Kroes, Thessa; Scheffer, Ingrid E.; Barnier, Jean-Vianney; Rousseau, Véronique; Genevieve, David; Haushalter, Virginie; Piton, Amélie; Denommé-Pichon, Anne-Sophie; Bruel, Ange-Line; Nambot, Sophie; Isidor, Bertrand; Grigg, John; Gonzalez, Tina; Ghedia, Sondhya; Marchant, Rhett G.; Bournazos, Adam; Wong, Wui-Kwan; Webster, Richard I.; Evesson, Frances J.; Jones, Kristi J.; Cooper, Sandra T.
In The American Journal of Human Genetics 8 August 2024 111(8):1673-1699
Academic Journal
Bryen, Samantha J.; Yuen, Michaela; Joshi, Himanshu; Dawes, Ruebena; Zhang, Katharine; Lu, Jessica K.; Jones, Kristi J.; Liang, Christina; Wong, Wui-Kwan; Peduto, Anthony J.; Waddell, Leigh B.; Evesson, Frances J.; Cooper, Sandra T.
In Human Genetics and Genomics Advances 13 October 2022 3(4)
Academic Journal
Abdulrasool, Ghusoon; Akesson, Lauren S.; Al Eryani, Ghamdan; Al-Shinnag, Mohammad; Arts, Peer; Bagnall, Richard; Baker, Naomi L.; Barnett, Christopher; Beecroft, Sarah; Bennetts, Bruce; Berbic, Marina; Beshay, Victoria; Black, Michael; Blackburn, Jim; Blombery, Piers; Boggs, Kirsten; Bournazos, Adam M.; Branford, Susan; Breen, Jimmy; Brown, Natasha J.; Bryen, Samantha J.; Burnett, Leslie; Canson, Daffodil; Cheong, Pak; Chew, Edward; Chong, Belinda; Christodoulou, John; Chung, Seo-Kyung; Clark, Mike; Cliffe, Corrina; Cole, Melissa; Collins, Felicity; Compton, Alison; Cooper, Antony; Cooper, Sandra T.; Corbett, Mark; Cowley, Mark; Davis, Mark R.; Delatycki, Martin; Dudding, Tracy; Edwards, Matthew; Eggers, Stefanie; Ewans, Lisa J.; Eyras, Eduardo; Faiz, Fathimath; Fernandez, Miriam Fanjul; Fellowes, Andrew; Fennell, Andrew; Field, Michael; Fleischer, Ron; Folland, Chiara; Fox, Lucy; Freckmann, Mary-Louise; Gaff, Clara; Galea, Melanie; Ghaoui, Roula; Goel, Himanshu; Gornanitis, Ilias; Ha, Thuong; Hanna, Bernadette; Harraway, James; Hayashi, Rippei; Hayes, Ian; Henderson, Alex; Hesson, Luke; Heyer, Erin; Hildebrand, Michael; Hipwell, Michael; Ho, Gladys; Horton, Ari E.; Hoskins, Cass; Hunter, Matthew F.; Jackson, Matilda; James, Paul; Jones, Kristi J.; Wong, Justin Jong-Leong; Josephi-Taylor, Sarah; Joshi, Himanshu; Kassahn, Karin; Kaub, Peter; Kevin, Lucy; Kirk, Edwin; Krzesinski, Emma; Kumble, Smitha; Kummerfeld, Sarah; Laing, Nigel; Lau, Chiyan; Lee, Eric; Leighton, Sarah; Lundie, Ben; Lunke, Sebastian; Mallawaarachchi, Amali; Mayoh, Chelsea; McGaughran, Julie; McLean, Alison; McPhillips, Mary; Meldrum, Cliff; Middleton, Edwina; Milnes, Di; Mina, Kym; Mowat, David; Nisselle, Amy; Oates, Emily; Oshlack, Alicia; Palmer, Elizabeth E.; Parasivam, Gayathri; Parsons, Michael; Patel, Chirag; Pinner, Jason R.; Quinn, Michael; Rasko, John; Ravenscroft, Gina; Ravine, Anja; Recsei, Krista; Regan, Matthew; Rehn, Jacqueline; Riley, Lisa G.; Robertson, Stephen; Ronan, Anne; Roscioli, Tony; Ryland, Georgina; Sadedin, Simon; Sandaradura, Sarah A.; Schreiber, Andreas; Scott, Hamish; Scott, Rodney; Semsarian, Christopher; Simons, Cas; Singer, Emma; Smith, Janine M.; Smyth, Renee; Spurdle, Amanda; Stark, Zornitza; Sullivan, Patricia; Sundercombe, Samantha; Tan, Tiong Y.; Tchan, Michel C.; Thompson, Bryony A.; Thorburn, David; Toubia, John; Trent, Ronald; Tudini, Emma; Voneague, Irina; Waddell, Leigh; Walker, Logan; Wallis, Mathew; Warnock, Nick; Weatheritt, Robert; White, Deborah; White, Susan M.; Williams, Mark G.; Wilson, Meredith J.; Winship, Ingrid; Worgan, Lisa; Wright, Dale C.; Wu, Kathy; Yeung, Alison; Ziolowski, Andrew; Bommireddipalli, Shobhana; Ades, Lesley; Alexander, Stephen I.; Archibald, Alison D.; Balasubramaniam, Shanti; Berman, Yemima; Bojadzieva, Jasmina; Buckley, Michael F.; Dawes, Ruebena; Donaldson, Liz; Downie, Lilian; Edwards, Caitlin; Engel, Amanda; Gallacher, Lyndon; Gear, Russell; Goh, Shuxiang; Goodwin, Linda; Higgins, Megan; Hopper, Bruce K.; Huq, Aamira J.; Kumar, Kishore R.; Lemckert, Frances; Leventer, Richard J.; Lindsey-Temple, Suzanna E.; Ma, Alan; Macaskill, Steven; Marty, Melanie; Marum, Justine E.; McCarthy, Hugh J.; Menezes, Manoj P.; Mohammad, Shekeeb; Niaz, Aram; Patel, Shilpan G.; Phelan, Dean; Rajagopalan, Sulekha; Rodgers, Jonathan; Rodrigues, Miriam; Roxburgh, Richard H.; Sachdev, Rani; Samarasekera, Ruvishani; Savva, Elena; Schindler, Tim; Shah, Margit; Sinnerbrink, Ingrid B.; Smith, Richard J.; Springer, Amanda; Strom, Samuel P.; Sue, Carolyn M.; Tan, Kenneth; Tantsis, Esther; Trainer, Alison H.; van Spaendonck-Zwarts, Karin; Walsh, Rebecca; Warwick, Linda; White, Stephanie; Wong, Wui Kwan; Yap, Patrick; Young, Helen
In Genetics in Medicine January 2022 24(1):130-145
Academic Journal
Dworschak, Gabriel C.; Punetha, Jaya; Kalanithy, Jeshurun C.; Mingardo, Enrico; Erdem, Haktan B.; Akdemir, Zeynep C.; Karaca, Ender; Mitani, Tadahiro; Marafi, Dana; Fatih, Jawid M.; Jhangiani, Shalini N.; Hunter, Jill V.; Dakal, Tikam Chand; Dhabhai, Bhanupriya; Dabbagh, Omar; Alsaif, Hessa S.; Alkuraya, Fowzan S.; Maroofian, Reza; Houlden, Henry; Efthymiou, Stephanie; Dominik, Natalia; Salpietro, Vincenzo; Sultan, Tipu; Haider, Shahzad; Bibi, Farah; Thiele, Holger; Hoefele, Julia; Riedhammer, Korbinian M.; Wagner, Matias; Guella, Ilaria; Demos, Michelle; Keren, Boris; Buratti, Julien; Charles, Perrine; Nava, Caroline; Héron, Delphine; Heide, Solveig; Valkanas, Elise; Waddell, Leigh B.; Jones, Kristi J.; Oates, Emily C.; Cooper, Sandra T.; MacArthur, Daniel; Syrbe, Steffen; Ziegler, Andreas; Platzer, Konrad; Okur, Volkan; Chung, Wendy K.; O’Shea, Sarah A.; Alcalay, Roy; Fahn, Stanley; Mark, Paul R.; Guerrini, Renzo; Vetro, Annalisa; Hudson, Beth; Schnur, Rhonda E.; Hoganson, George E.; Burton, Jennifer E.; McEntagart, Meriel; Lindenberg, Tobias; Yilmaz, Öznur; Odermatt, Benjamin; Pehlivan, Davut; Posey, Jennifer E.; Lupski, James R.; Reutter, Heiko
In Genetics in Medicine September 2021 23(9):1715-1725
Academic Journal
Bryen, Samantha J.; Joshi, Himanshu; Evesson, Frances J.; Girard, Cyrille; Ghaoui, Roula; Waddell, Leigh B.; Testa, Alison C.; Cummings, Beryl; Arbuckle, Susan; Graf, Nicole; Webster, Richard; MacArthur, Daniel G.; Laing, Nigel G.; Davis, Mark R.; Lührmann, Reinhard; Cooper, Sandra T.
In The American Journal of Human Genetics 5 September 2019 105(3):573-587
Academic Journal
Woolger, Natalie; Bournazos, Adam; Sophocleous, Reece A.; Evesson, Frances J.; Lek, Angela; Driemer, Birgit; Sutton, R. Bryan; Cooper, Sandra T.
In Journal of Biological Chemistry 10 November 2017 292(45):18577-18591
Academic Journal
Piper, Ann-Katrin; Ross, Samuel E.; Redpath, Gregory M.; Lemckert, Frances A.; Woolger, Natalie; Bournazos, Adam; Greer, Peter A.; Sutton, Roger B.; Cooper, Sandra T.
In Cellular Signalling May 2017 33:30-40
Academic Journal
Venugopal, Parvathy; Arts, Peer; Fox, Lucy C.; Simons, Annet; Hiwase, Devendra K.; Bardy, Peter G.; Swift, Annette; Ross, David M.; van Vulpen, Lize F. D.; Buijs, Arjan; Bolton, Kelly L.; Getta, Bartlomiej; Furlong, Eliska; Carter, Tina; Krapels, Ingrid; Hoeks, Marlijn; Al Kindy, Adila; Al Kindy, Farah; de Munnik, Sonja; Evans, Pamela; Frank, Mahalia S. B.; Bournazos, Adam M.; Cooper, Sandra T.; Ha, Thuong Thi; Jackson, Matilda R.; Arriola-Martinez, Luis; Phillips, Kerry; Brennan, Yvonne; Bakshi, Madhura; Ambler, Karen; Gao, Song; Kassahn, Karin S.; Kenyon, Rosalie; Hung, Kevin; Babic, Milena; McGovern, Alan; Rawlings, Lesley; Vakulin, Cassandra; Dejong, Lucas; Fathi, Rema; McRae, Simon; Myles, Nicholas; Ladon, Dariusz; Jongmans, Marjolijn; Kuiper, Roland P.; Poplawski, Nicola K.; Barbaro, Pasquale; Blombery, Piers; Brown, Anna L.; Hahn, Christopher N.; Scott, Hamish S.
In Blood Advances 9 July 2024 8(13):3437-3443
Academic Journal
O’Grady, Gina L.; Best, Heather A.; Sztal, Tamar E.; Schartner, Vanessa; Sanjuan-Vazquez, Myriam; Donkervoort, Sandra; Abath Neto, Osorio; Sutton, Roger Bryan; Ilkovski, Biljana; Romero, Norma Beatriz; Stojkovic, Tanya; Dastgir, Jahannaz; Waddell, Leigh B.; Boland, Anne; Hu, Ying; Williams, Caitlin; Ruparelia, Avnika A.; Maisonobe, Thierry; Peduto, Anthony J.; Reddel, Stephen W.; Lek, Monkol; Tukiainen, Taru; Cummings, Beryl B.; Joshi, Himanshu; Nectoux, Juliette; Brammah, Susan; Deleuze, Jean-François; Ing, Viola Oorschot; Ramm, Georg; Ardicli, Didem; Nowak, Kristen J.; Talim, Beril; Topaloglu, Haluk; Laing, Nigel G.; North, Kathryn N.; MacArthur, Daniel G.; Friant, Sylvie; Clarke, Nigel F.; Bryson-Richardson, Robert J.; Bönnemann, Carsten G.; Laporte, Jocelyn; Cooper, Sandra T.
In The American Journal of Human Genetics 3 November 2016 99(5):1086-1105
Academic Journal
Mohan, Shruthi; Mcnulty, Shannon; Thaxton, Courtney; Elnagheeb, Marwa; Owens, Emma; Flowers, May; Nunnery, Teagan; Self, Autumn; Palus, Brooke; Gorokhova, Svetlana; Kennedy, April; Niu, Zhiyv; Johari, Mridul; Maiga, Alassane Baneye; Macalalad, Kelly; Clause, Amanda R.; Beckmann, Jacques S.; Bronicki, Lucas; Cooper, Sandra T.; Ganesh, Vijay S.; Kang, Peter B.; Kesari, Akanchha; Lek, Monkol; Levy, Jennifer; Rufibach, Laura; Savarese, Marco; Spencer, Melissa J.; Straub, Volker; Tasca, Giorgio; Weihl, Conrad C.
Annals of Clinical and Translational Neurology. September, 2024, Vol. 11 Issue 9, p2268, 9 p.
Academic Journal
Marchant, Rhett G.; Bryen, Samantha J.; Bahlo, Melanie; Cairns, Anita; Chao, Katherine R.; Corbett, Alastair; Davis, Mark R.; Ganesh, Vijay S.; Ghaoui, Roula; Jones, Kristi J.; Kornberg, Andrew J.; Lek, Monkol; Liang, Christina; Macarthur, Daniel G.; Oates, Emily C.; O'Donnell‐Luria, Anne; O'Grady, Gina L.; Osei‐Owusu, Ikeoluwa A.; Rafehi, Haloom; Reddel, Stephen W.; Roxburgh, Richard H.; Ryan, Monique M.; Sandaradura, Sarah A.; Scott, Liam W.; Valkanas, Elise; Weisburd, Ben; Young, Helen; Evesson, Frances J.; Waddell, Leigh B.; Cooper, Sandra T.
Annals of Clinical and Translational Neurology. May, 2024, Vol. 11 Issue 5, p1250, 17 p.
Academic Journal
Donoghue, Sarah; Kumble, Smitha; Wasling, Pontus; Alberg, Lars; Linton-Dahloef, Pia; Yildiz, Yilmaz; Ertugrul, Ilker; Derks, Terry; Koeberl, Dwight; Lagrange, Emmeline; Vergnaud, Sabrina; Pezzani, Lidia; Iascone, Maria; Stark, Zornitza; Bournazos, Adam M.; Cooper, Sandra T.; Kollberg, Gittan
Academic Journal
Hock, Daniella H.; Caruana, Nikeisha J.; Semcesen, Liana N.; Lake, Nicole J.; Formosa, Luke E.; Amarasekera, Sumudu S. C.; Stait, Tegan; Tregoning, Simone; Frajman, Leah E.; Bournazos, Adam M.; Robinson, David R. L.; Ball, Megan; Reljic, Boris; Ryder, Bryony; Wallis, Mathew J.; Vasudevan, Anand; Beck, Cara; Peters, Heidi; Lee, Joy; Tan, Natalie B.; Freckmann, Mary-Louise; Attard, Chantal; Monagle, Paul; Samarasinghe, Amanda; Brown, Rosie; Bi, Weimin; Lek, Monkol; McFarland, Robert; Taylor, Robert W.; Ryan, Michael T.; Cooper, Sandra T.; Stark, Zornitza; Christodoulou, John; Compton, Alison G.; Thorburn, David R.; Stroud, David A.; MitoMDT Diagnost Network Genom & Om
Academic Journal
Fuson, Kerry; Rice, Anne; Mahling, Ryan; Snow, Adam; Nayak, Kamakshi; Shanbhogue, Prajna; Meyer, Austin G.; Redpath, Gregory M.I.; Hinderliter, Anne; Cooper, Sandra T.; Sutton, R. Bryan
In Structure 7 January 2014 22(1):104-115
Academic Journal
Chung, Clara W. T.; Bournazos, Adam M.; Chan, Lok Chi Denise; Sarkozy, Vanessa; Lawson, John; Kennedy, Sean E.; Cooper, Sandra T.; Kirk, Edwin P.; Mowat, David
Academic Journal
Lo, Harriet P.; Bertini, Enrico; Mirabella, Massimiliano; Domazetovska, Ana; Dale, Russell C.; Petrini, Stefania; D’Amico, Adele; Valente, Enza Maria; Barresi, Rita; Roberts, Mark; Tozzi, Giulia; Tasca, Giorgio; Cooper, Sandra T.; Straub, Volker; North, Kathryn N.
In Neuromuscular Disorders March 2011 21(3):194-203
Academic Journal
Evesson, Frances J.; Peat, Rachel A.; Lek, Angela; Brilot, Fabienne; Lo, Harriet P.; Dale, Russell C.; Parton, Robert G.; North, Kathryn N.; Cooper, Sandra T.
In Journal of Biological Chemistry 10 September 2010 285(37):28529-28539
Academic Journal
In Pathology February 2024 56 Supplement 1:S21-S21
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