학술논문
'학술논문'
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1~10
Academic Journal
Velmans, Clara; O'Donnell-Luria, Anne H; Argilli, Emanuela; Mau-them, Frederic Tran; Vitobello, Antonio; Chan, Marcus CY; Fung, Jasmine Lee-Fong; Rech, Megan; Abicht, Angela; Mucca, Marion Aubert; Carmichael, Jason; Chassaing, Nicolas; Clark, Robin; Coubes, Christine; Denommé-Pichon, Anne-Sophie; de Dios, John Karl; England, Eleina; Funalot, Benoit; Gerard, Marion; Joseph, Maries; Kennedy, Colleen; Kumps, Camille; Willems, Marjolaine; van de Laar, Ingrid MBH; Aarts-Tesselaar, Coranne; van Slegtenhorst, Marjon; Lehalle, Daphné; Leppig, Kathleen; Lessmeier, Lennart; Pais, Lynn S; Paterson, Heather; Ramanathan, Subhadra; Rodan, Lance H; Superti-Furga, Andrea; Chung, Brian HY; Sherr, Elliott; Netzer, Christian; Schaaf, Christian P; Erger, Florian
Journal of Medical Genetics. 59(7)
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
Donkervoort, Sandra; Mohassel, Payam; OLeary, Melanie; Bonner, Devon; Hartley, Taila; Acquaye, Nicole; Brull, Astrid; Saporta, Mario; Dyment, David; Sampson, Jacinda; Pajusalu, Sander; Austin-Tse, Christina; Hurth, Kyle; Cohen, Julie; McWalter, Kirsty; Warman-Chardon, Jodi; Crunk, Amy; Foley, A; Mammen, Andrew; Wheeler, Matthew; ODonnell-Luria, Anne; Bönnemann, Carsten; Mozaffar, Tahseen
Annals of Clinical and Translational Neurology. 11(3)
Academic Journal
Karchin, Rachel; Radivojac, Predrag; O’Donnell-Luria, Anne; Greenblatt, Marc S.; Tolstorukov, Michael Y.; Sonkin, Dmitriy
Nature Genetics. 56(7):1324-1326
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
Human Genetics. 143(4):545-549
Academic Journal
Lowther, Chelsea; Valkanas, Elise; Giordano, Jessica; Wang, Harold; Currall, Benjamin; OKeefe, Kathryn; Pierce-Hoffman, Emma; Kurtas, Nehir; Whelan, Christopher; Hao, Stephanie; Weisburd, Ben; Jalili, Vahid; Fu, Jack; Wong, Isaac; Collins, Ryan; Zhao, Xuefang; Austin-Tse, Christina; Evangelista, Emily; Lemire, Gabrielle; Aggarwal, Vimla; Lucente, Diane; Gauthier, Laura; Tolonen, Charlotte; Sahakian, Nareh; Stevens, Christine; An, Joon-Yong; Dong, Shan; MacKenzie, Tippi; Devlin, Bernie; Gilmore, Kelly; Powell, Bradford; Brandt, Alicia; Vetrini, Francesco; DiVito, Michelle; MacArthur, Daniel; Hodge, Jennelle; ODonnell-Luria, Anne; Rehm, Heidi; Vora, Neeta; Levy, Brynn; Brand, Harrison; Wapner, Ronald; Talkowski, Michael; Norton, Mary; Sanders, Stephan
American Journal of Human Genetics. 110(9)
Academic Journal
Stenton, Sarah L.; O’Leary, Melanie C.; Lemire, Gabrielle; VanNoy, Grace E.; DiTroia, Stephanie; Ganesh, Vijay S.; Groopman, Emily; O’Heir, Emily; Mangilog, Brian; Osei-Owusu, Ikeoluwa; Pais, Lynn S.; Serrano, Jillian; Singer-Berk, Moriel; Weisburd, Ben; Wilson, Michael W.; Austin-Tse, Christina; Abdelhakim, Marwa; Althagafi, Azza; Babbi, Giulia; Bellazzi, Riccardo; Bovo, Samuele; Carta, Maria Giulia; Casadio, Rita; Coenen, Pieter-Jan; De Paoli, Federica; Floris, Matteo; Gajapathy, Manavalan; Hoehndorf, Robert; Jacobsen, Julius O. B.; Joseph, Thomas; Kamandula, Akash; Katsonis, Panagiotis; Kint, Cyrielle; Lichtarge, Olivier; Limongelli, Ivan; Lu, Yulan; Magni, Paolo; Mamidi, Tarun Karthik Kumar; Martelli, Pier Luigi; Mulargia, Marta; Nicora, Giovanna; Nykamp, Keith; Pejaver, Vikas; Peng, Yisu; Pham, Thi Hong Cam; Podda, Maurizio S.; Rao, Aditya; Rizzo, Ettore; Saipradeep, Vangala G.; Savojardo, Castrense; Schols, Peter; Shen, Yang; Sivadasan, Naveen; Smedley, Damian; Soru, Dorian; Srinivasan, Rajgopal; Sun, Yuanfei; Sunderam, Uma; Tan, Wuwei; Tiwari, Naina; Wang, Xiao; Wang, Yaqiong; Williams, Amanda; Worthey, Elizabeth A.; Yin, Rujie; You, Yuning; Zeiberg, Daniel; Zucca, Susanna; Bakolitsa, Constantina; Brenner, Steven E.; Fullerton, Stephanie M.; Radivojac, Predrag; Rehm, Heidi L.; O’Donnell-Luria, Anne
Human Genomics. 18(1)
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
Chen, Siwei; Francioli, Laurent C.; Goodrich, Julia K.; Collins, Ryan L.; Kanai, Masahiro; Wang, Qingbo; Alföldi, Jessica; Watts, Nicholas A.; Vittal, Christopher; Gauthier, Laura D.; Poterba, Timothy; Wilson, Michael W.; Tarasova, Yekaterina; Phu, William; Grant, Riley; Yohannes, Mary T.; Koenig, Zan; Farjoun, Yossi; Banks, Eric; Donnelly, Stacey; Gabriel, Stacey; Gupta, Namrata; Ferriera, Steven; Tolonen, Charlotte; Novod, Sam; Bergelson, Louis; Roazen, David; Ruano-Rubio, Valentin; Covarrubias, Miguel; Llanwarne, Christopher; Petrillo, Nikelle; Wade, Gordon; Jeandet, Thibault; Munshi, Ruchi; Tibbetts, Kathleen; O’Donnell-Luria, Anne; Solomonson, Matthew; Seed, Cotton; Martin, Alicia R.; Talkowski, Michael E.; Rehm, Heidi L.; Daly, Mark J.; Tiao, Grace; Neale, Benjamin M.; MacArthur, Daniel G.; Karczewski, Konrad J.
Nature: International weekly journal of science. 625(7993):92-100
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