학술논문
'학술논문'
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1~10
Genome and RNA sequencing boost neuromuscular diagnoses to 62% from 34% with exome sequencing alone.
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.
Academic Journal
Töpf, Ana; Cox, Dan; Zaharieva, Irina T.; Di Leo, Valeria; Sarparanta, Jaakko; Jonson, Per Harald; Sealy, Ian M.; Smolnikov, Andrei; White, Richard J.; Vihola, Anna; Savarese, Marco; Merteroglu, Munise; Wali, Neha; Laricchia, Kristen M.; Venturini, Cristina; Vroling, Bas; Stenton, Sarah L.; Cummings, Beryl B.; Harris, Elizabeth; Marini-Bettolo, Chiara; Diaz-Manera, Jordi; Henderson, Matt; Barresi, Rita; Duff, Jennifer; England, Eleina M.; Patrick, Jane; Al-Husayni, Sundos; Biancalana, Valerie; Beggs, Alan H.; Bodi, Istvan; Bommireddipalli, Shobhana; Bönnemann, Carsten G.; Cairns, Anita; Chiew, Mei-Ting; Claeys, Kristl G.; Cooper, Sandra T.; Davis, Mark R.; Donkervoort, Sandra; Erasmus, Corrie E.; Fassad, Mahmoud R.; Genetti, Casie A.; Grosmann, Carla; Jungbluth, Heinz; Kamsteeg, Erik-Jan; Lornage, Xavière; Löscher, Wolfgang N.; Malfatti, Edoardo; Manzur, Adnan; Martí, Pilar; Mongini, Tiziana E.; Muelas, Nuria; Nishikawa, Atsuko; O’Donnell-Luria, Anne; Ogonuki, Narumi; O’Grady, Gina L.; O’Heir, Emily; Paquay, Stéphanie; Phadke, Rahul; Pletcher, Beth A.; Romero, Norma B.; Schouten, Meyke; Shah, Snehal; Smuts, Izelle; Sznajer, Yves; Tasca, Giorgio; Taylor, Robert W.; Tuite, Allysa; Van den Bergh, Peter; VanNoy, Grace; Voermans, Nicol C.; Wanschitz, Julia V.; Wraige, Elizabeth; Yoshimura, Kimihiko; Oates, Emily C.; Nakagawa, Osamu; Nishino, Ichizo; Laporte, Jocelyn; Vilchez, Juan J.; MacArthur, Daniel G.; Sarkozy, Anna; Cordell, Heather J.; Udd, Bjarne; Busch-Nentwich, Elisabeth M.; Muntoni, Francesco; Straub, Volker
Nature Genetics. 56(3):395-407
Academic Journal
Toepf, Ana; Cox, Dan; Zaharieva, Irina T.; Di Leo, Valeria; Sarparanta, Jaakko; Jonson, Per Harald; Sealy, Ian M.; Smolnikov, Andrei; White, Richard J.; Vihola, Anna; Savarese, Marco; Merteroglu, Munise; Wali, Neha; Laricchia, Kristen M.; Venturini, Cristina; Vroling, Bas; Stenton, Sarah L.; Cummings, Beryl B.; Harris, Elizabeth; Marini-Bettolo, Chiara; Diaz-Manera, Jordi; Henderson, Matt; Barresi, Rita; Duff, Jennifer; England, Eleina M.; Patrick, Jane; Al-Husayni, Sundos; Biancalana, Valerie; Beggs, Alan H.; Bodi, Istvan; Bommireddipalli, Shobhana; Boennemann, Carsten G.; Cairns, Anita; Chiew, Mei-Ting; Claeys, Kristl G.; Cooper, Sandra T.; Davis, Mark R.; Donkervoort, Sandra; Erasmus, Corrie E.; Fassad, Mahmoud R.; Genetti, Casie A.; Grosmann, Carla; Jungbluth, Heinz; Kamsteeg, Erik-Jan; Lornage, Xaviere; Loescher, Wolfgang N.; Malfatti, Edoardo; Manzur, Adnan; Marti, Pilar; Mongini, Tiziana E.; Muelas, Nuria; Nishikawa, Atsuko; O'Donnell-Luria, Anne; Ogonuki, Narumi; O'Grady, Gina L.; O'Heir, Emily; Paquay, Stephanie; Phadke, Rahul; Pletcher, Beth A.; Romero, Norma B.; Schouten, Meyke; Shah, Snehal; Smuts, Izelle; Sznajer, Yves; Tasca, Giorgio; Taylor, Robert W.; Tuite, Allysa; van den Bergh, Peter; Vannoy, Grace; Voermans, Nicol C.; Wanschitz, Julia V.; Wraige, Elizabeth; Yoshimura, Kimihiko; Oates, Emily C.; Nakagawa, Osamu; Nishino, Ichizo; Laporte, Jocelyn; Vilchez, Juan J.; Macarthur, Daniel G.; Sarkozy, Anna; Cordell, Heather J.; Udd, Bjarne; Busch-Nentwich, Elisabeth M.; Muntoni, Francesco; Straub, Volker
Academic Journal
Johnson, Renee; Otway, Robyn; Chin, Ephrem; Horvat, Claire; Ohanian, Monique; Wilcox, Jon A. L.; Su, Zheng; Prestes, Priscilla; Smolnikov, Andrei; Soka, Magdalena; Guo, Guanglan; Rath, Emma; Chakravorty, Samya; Chrzanowski, Lukasz; Hayward, Christopher S.; Keogh, Anne M.; Macdonald, Peter S.; Giannoulatou, Eleni; Chang, Alex C. Y.; Oates, Emily C.; Charchar, Fadi; Seidman, Jonathan G.; Seidman, Christine E.; Hegde, Madhuri; Fatkin, Diane
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
Genetics in Medicine: Official journal of the American College of Medical Genetics and Genomics. 23(9):1715-1725
Academic Journal
Beecroft, Sarah J.; van de Locht, Martijn; de Winter, Josine M.; Ottenheijm, Coen A.; Sewry, Caroline A.; Mohammed, Shehla; Ryan, Monique M.; Woodcock, Ian R.; Sanders, Lauren; Gooding, Rebecca; Davis, Mark R.; Oates, Emily C.; Laing, Nigel G.; Ravenscroft, Gianina; McLean, Catriona A.; Jungbluth, Heinz
Academic Journal
Bryen, Samantha J.; Oates, Emily C.; Evesson, Frances J.; Lu, Jessica K.; Waddell, Leigh B.; Joshi, Himanshu; Ryan, Monique M.; Cummings, Beryl B.; McLean, Catriona A.; MacArthur, Daniel G.; Kornberg, Andrew J.; Cooper, Sandra T.
European Journal of Human Genetics. 29(1):61-66
Academic Journal
Savarese, Marco; Vihola, Anna; Oates, Emily C.; Barresi, Rita; Fiorillo, Chiara; Tasca, Giorgio; Jokela, Manu; Sarkozy, Anna; Luo, Sushan; Díaz-Manera, Jordi; Ehrstedt, Christoffer; Rojas-García, Ricardo; Sáenz, Amets; Muelas, Nuria; Lonardo, Fortunato; Fodstad, Heidi; Qureshi, Talha; Johari, Mridul; Välipakka, Salla; Luque, Helena; Petiot, Philippe; de Munain, Adolfo López; Pane, Marika; Mercuri, Eugenio; Torella, Annalaura; Nigro, Vincenzo; Astrea, Guja; Santorelli, Filippo Maria; Bruno, Claudio; Kuntzer, Thierry; Illa, Isabel; Vílchez, Juan J.; Julien, Cedric; Ferreiro, Ana; Malandrini, Alessandro; Zhao, Chong-Bo; Casar-Borota, Olivera; Davis, Mark; Muntoni, Francesco; Hackman, Peter; Udd, Bjarne
Genetics in Medicine: Official journal of the American College of Medical Genetics and Genomics. 22(12):2029-2040
Academic Journal
Oates, Emily C.; Jones, Kristi J.; Donkervoort, Sandra; Charlton, Amanda; Brammah, Susan; Smith III, John E.; Ware, James S.; Yau, Kyle S.; Swanson, Lindsay C.; Whiffin, Nicola; Peduto, Anthony J.; Bournazos, Adam; Waddell, Leigh B.; Farrar, Michelle A.; Sampaio, Hugo A.; Teoh, Hooi Ling; Lamont, Phillipa J.; Mowat, David; Fitzsimons, Robin B.; Corbett, Alastair J.
Academic Journal
Waddell, Leigh B.; Bryen, Samantha J.; Cummings, Beryl B.; Bournazos, Adam; Evesson, Frances J.; Joshi, Himanshu; Marshall, Jamie L.; Tukiainen, Taru; Valkanas, Elise; Weisburd, Ben; Sadedin, Simon; Davis, Mark R.; Faiz, Fathimath; Gooding, Rebecca; Sandaradura, Sarah A.; O'Grady, Gina L.; Tchan, Michel C.; Mowat, David R.; Oates, Emily C.; Farrar, Michelle A.; Sampaio, Hugo; Ma, Alan; Neas, Katherine; Wang, Min-Xia; Charlton, Amanda; Chan, Charles; Kenwright, Diane N.; Graf, Nicole; Arbuckle, Susan; Clarke, Nigel F.; MacArthur, Daniel G.; Jones, Kristi J.; Lek, Monkol; Cooper, Sandra T.
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[AR] Oates, Emily C.
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