학술논문
'학술논문'
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1~10
Academic Journal
Mahmoud, M.; Huang, Y.; Garimella, K.; Audano, P. A.; Wan, W.; Prasad, N.; Handsaker, R. E.; Hall, S.; Pionzio, A.; Schatz, M. C.; Talkowski, M. E.; Eichler, E. E.; Levy, S. E.; Sedlazeck, F. J.
Nature Communications. 15(1)
Report
Wojcik, Monica H.; Reuter, Chloe M.; Marwaha, Shruti; Mahmoud, Medhat; Duyzend, Michael H.; Barseghyan, Hayk; Yuan, Bo; Boone, Philip M.; Groopman, Emily E.; Délot, Emmanuèle C.; Jain, Deepti; Sanchis-Juan, Alba; Diseases, Genomics Research to Elucidate the Genetics of Rare; Consortium; Starita, Lea M.; Talkowski, Michael; Montgomery, Stephen B.; Bamshad, Michael J.; Chong, Jessica X.; Wheeler, Matthew T.; Berger, Seth I.; O'Donnell-Luria, Anne; Sedlazeck, Fritz J.; Miller, Danny E.
Academic Journal
Kaivola, Karri; Chia, Ruth; Ding, Jinhui; Rasheed, Memoona; Fujita, Masashi; Menon, Vilas; Walton, Ronald L; Collins, Ryan L; Billingsley, Kimberley; Brand, Harrison; Talkowski, Michael; Zhao, Xuefang; Dewan, Ramita; Stark, Ali; Ray, Anindita; Solaiman; Jerez, Pilar Alvarez; Malik, Laksh; Dawson, Ted M; Rosenthal, Liana S; Albert, Marilyn S; Pletnikova, Olga; Troncoso, Juan C; Masellis, Mario; Keith, Julia; Black, Sandra E; Ferrucci, Luigi; Resnick, Susan M; Tanaka, Toshiko; Soltis, Anthony R; Viollet, Coralie; Sukumar, Gauthaman; Alba, Camille; Lott, Nathaniel; Martinez, Elisa McGrath; Tuck, Meila; Singh, Jatinder; Bacikova, Dagmar; Zhang, Xijun; Hupalo, Daniel N; Adeleye, Adelani; Wilkerson, Matthew D; Pollard, Harvey B; Dalgard, Clifton L; Gan-Or, Ziv; Rogaeva, Ekaterina; Brice, Alexis; Lesage, Suzanne; Xiromerisiou, Georgia; Calvo, Andrea; Canosa, Antonio; Chio, Adriano; Logroscino, Giancarlo; Mora, Gabriele; Krüger, Reijko; May, Patrick; Alcolea, Daniel; Clarimon, Jordi; Fortea, Juan; Gonzalez-Aramburu, Isabel; Infante, Jon; Lage, Carmen; Lleó, Alberto; Pastor, Pau; Sanchez-Juan, Pascual; Brett, Francesca; Aarsland, Dag; Al-Sarraj, Safa; Attems, Johannes; Gentleman, Steve; Hardy, John A; Hodges, Angela K; Love, Seth; McKeith, Ian G; Morris, Christopher M; Morris, Huw R; Palmer, Laura; Pickering-Brown, Stuart; Ryten, Mina; Thomas, Alan J; Troakes, Claire; Barrett, Matthew J; Beach, Thomas G; Bekris, Lynn M; Bennett, David A; Boeve, Bradley F; Dickson, Dennis W; Faber, Kelley; Ferman, Tanis; Flanagan, Margaret E; Foroud, Tatiana M; Ghetti, Bernardino; Gibbs, J Raphael
Cell Genomics. 3(6)
Academic Journal
M. Mahmoud; Y. Huang; K. Garimella; P. A. Audano; W. Wan; N. Prasad; R. E. Handsaker; S. Hall; A. Pionzio; M. C. Schatz; M. E. Talkowski; E. E. Eichler; S. E. Levy; F. J. Sedlazeck
Nature Communications, Vol 15, Iss 1, Pp 1-13 (2024)
Academic Journal
Rajderkar, Sudha; Barozzi, Iros; Zhu, Yiwen; Hu, Rong; Zhang, Yanxiao; Li, Bin; Alcaina Caro, Ana; Fukuda-Yuzawa, Yoko; Kelman, Guy; Akeza, Adyam; Blow, Matthew J; Pham, Quan; Harrington, Anne N; Godoy, Janeth; Meky, Eman M; von Maydell, Kianna; Hunter, Riana D; Akiyama, Jennifer A; Novak, Catherine S; Plajzer-Frick, Ingrid; Afzal, Veena; Tran, Stella; Lopez-Rios, Javier; Talkowski, Michael E; Lloyd, KC Kent; Ren, Bing; Dickel, Diane E; Visel, Axel; Pennacchio, Len A
Communications Biology. 6(1)
Academic Journal
Morad Ansari; Kamli N.W. Faour; Akiko Shimamura; Graeme Grimes; Emeline M. Kao; Erica R. Denhoff; Ana Blatnik; Daniel Ben-Isvy; Lily Wang; Benjamin M. Helm; Helen Firth; Amy M. Breman; Emilia K. Bijlsma; Aiko Iwata-Otsubo; Thomy J.L. de Ravel; Vincent Fusaro; Alan Fryer; Keith Nykamp; Lara G. Stühn; Tobias B. Haack; G. Christoph Korenke; Panayiotis Constantinou; Kinga M. Bujakowska; Karen J. Low; Emily Place; Jennifer Humberson; Melanie P. Napier; Jessica Hoffman; Jane Juusola; Matthew A. Deardorff; Wanqing Shao; Shira Rockowitz; Ian Krantz; Maninder Kaur; Sarah Raible; Victoria Dortenzio; Sabine Kliesch; Moriel Singer-Berk; Emily Groopman; Stephanie DiTroia; Sonia Ballal; Siddharth Srivastava; Kathrin Rothfelder; Saskia Biskup; Jessica Rzasa; Jennifer Kerkhof; Haley McConkey; Bekim Sadikovic; Sarah Hilton; Siddharth Banka; Frank Tüttelmann; Donald F. Conrad; Anne O’Donnell-Luria; Michael E. Talkowski; David R. FitzPatrick; Philip M. Boone
HGG Advances, Vol 5, Iss 2, Pp 100273- (2024)
Academic Journal
Fu, Jack M; Satterstrom, F Kyle; Peng, Minshi; Brand, Harrison; Collins, Ryan L; Dong, Shan; Wamsley, Brie; Klei, Lambertus; Wang, Lily; Hao, Stephanie P; Stevens, Christine R; Cusick, Caroline; Babadi, Mehrtash; Banks, Eric; Collins, Brett; Dodge, Sheila; Gabriel, Stacey B; Gauthier, Laura; Lee, Samuel K; Liang, Lindsay; Ljungdahl, Alicia; Mahjani, Behrang; Sloofman, Laura; Smirnov, Andrey N; Barbosa, Mafalda; Betancur, Catalina; Brusco, Alfredo; Chung, Brian HY; Cook, Edwin H; Cuccaro, Michael L; Domenici, Enrico; Ferrero, Giovanni Battista; Gargus, J Jay; Herman, Gail E; Hertz-Picciotto, Irva; Maciel, Patricia; Manoach, Dara S; Passos-Bueno, Maria Rita; Persico, Antonio M; Renieri, Alessandra; Sutcliffe, James S; Tassone, Flora; Trabetti, Elisabetta; Campos, Gabriele; Cardaropoli, Simona; Carli, Diana; Chan, Marcus CY; Fallerini, Chiara; Giorgio, Elisa; Girardi, Ana Cristina; Hansen-Kiss, Emily; Lee, So Lun; Lintas, Carla; Ludena, Yunin; Nguyen, Rachel; Pavinato, Lisa; Pericak-Vance, Margaret; Pessah, Isaac N; Schmidt, Rebecca J; Smith, Moyra; Costa, Claudia IS; Trajkova, Slavica; Wang, Jaqueline YT; Yu, Mullin HC; Cutler, David J; De Rubeis, Silvia; Buxbaum, Joseph D; Daly, Mark J; Devlin, Bernie; Roeder, Kathryn; Sanders, Stephan J; Talkowski, Michael E
Nature Genetics. 54(9)
Academic Journal
Lemire, Gabrielle; Sanchis-Juan, Alba; Russell, Kathryn; Baxter, Samantha; Chao, Katherine R.; Singer-Berk, Moriel; Groopman, Emily; Wong, Isaac; England, Eleina; Goodrich, Julia; Pais, Lynn; Austin-Tse, Christina; DiTroia, Stephanie; O’Heir, Emily; Ganesh, Vijay S.; Wojcik, Monica H.; Evangelista, Emily; Snow, Hana; Osei-Owusu, Ikeoluwa; Fu, Jack; Singh, Mugdha; Mostovoy, Yulia; Huang, Steve; Garimella, Kiran; Kirkham, Samantha L.; Neil, Jennifer E.; Shao, Diane D.; Walsh, Christopher A.; Argilli, Emanuela; Le, Carolyn; Sherr, Elliott H.; Gleeson, Joseph G.; Shril, Shirlee; Schneider, Ronen; Hildebrandt, Friedhelm; Sankaran, Vijay G.; Madden, Jill A.; Genetti, Casie A.; Beggs, Alan H.; Agrawal, Pankaj B.; Bujakowska, Kinga M.; Place, Emily; Pierce, Eric A.; Donkervoort, Sandra; Bönnemann, Carsten G.; Gallacher, Lyndon; Stark, Zornitza; Tan, Tiong Yang; White, Susan M.; Töpf, Ana; Straub, Volker; Fleming, Mark D.; Pollak, Martin R.; Õunap, Katrin; Pajusalu, Sander; Donald, Kirsten A.; Bruwer, Zandre; Ravenscroft, Gianina; Laing, Nigel G.; MacArthur, Daniel G.; Rehm, Heidi L.; Talkowski, Michael E.; Brand, Harrison; O’Donnell-Luria, Anne
In The American Journal of Human Genetics 2 May 2024 111(5):863-876
Academic Journal
Ansari, Morad; Faour, Kamli N.W.; Shimamura, Akiko; Grimes, Graeme; Kao, Emeline M.; Denhoff, Erica R.; Blatnik, Ana; Ben-Isvy, Daniel; Wang, Lily; Helm, Benjamin M.; Firth, Helen; Breman, Amy M.; Bijlsma, Emilia K.; Iwata-Otsubo, Aiko; de Ravel, Thomy J.L.; Fusaro, Vincent; Fryer, Alan; Nykamp, Keith; Stühn, Lara G.; Haack, Tobias B.; Korenke, G. Christoph; Constantinou, Panayiotis; Bujakowska, Kinga M.; Low, Karen J.; Place, Emily; Humberson, Jennifer; Napier, Melanie P.; Hoffman, Jessica; Juusola, Jane; Deardorff, Matthew A.; Shao, Wanqing; Rockowitz, Shira; Krantz, Ian; Kaur, Maninder; Raible, Sarah; Dortenzio, Victoria; Kliesch, Sabine; Singer-Berk, Moriel; Groopman, Emily; DiTroia, Stephanie; Ballal, Sonia; Srivastava, Siddharth; Rothfelder, Kathrin; Biskup, Saskia; Rzasa, Jessica; Kerkhof, Jennifer; McConkey, Haley; Sadikovic, Bekim; Hilton, Sarah; Banka, Siddharth; Tüttelmann, Frank; Conrad, Donald F.; O’Donnell-Luria, Anne; Talkowski, Michael E.; FitzPatrick, David R.; Boone, Philip M.
In Human Genetics and Genomics Advances 11 April 2024 5(2)
Academic Journal
Abarca-Barriga, Hugo; Al-Haddad, Christiane; Berman, Jeffrey L.; Bothun, Erick D.; Capasso, Jenina; Chacon-Camacho, Oscar Francisco; Chang, Lan; Christiansen, Stephen P.; Ciccarelli, Maria Laura; Cordonnier, Monique; Cox, Gerald F.; Curry, Cynthia J.; Dagi, Linda R.; Lee Dahm, Thomas; David, Karen L.; Davitt, Bradley V.; De Berardinis, Teresa; Demer, Joseph L.; Désir, Julie; D’Esposito, Fabiana; Drack, Arlene V.; Eggenberger, Eric; Elder, James E.; Elliott, Alexandra T.; Epley, K. David; Feldman, Hagit Baris; Ferreira, Carlos R.; Flaherty, Maree P.; Fulton, Anne B.; Gerth-Kahlert, Christina; Gottlob, Irene; Grill, Stephen; Halliday, Dorothy J.; Hanisch, Frank; Hay, Eleanor; Heidary, Gena; Holder, Christopher; Horton, Jonathan C.; Iannaccone, Alessandro; Isenberg, Sherwin J.; Johnston, Suzanne C.; Kahana, Alon; Katowitz, James A.; Kazlas, Melanie; Kerr, Natalie C.; Kimonis, Virginia; Ko, Melissa W.; Koc, Feray; Larsen, Dorte Ancher; Lay-Son, Guillermo; Ledoux, Danielle M.; Levin, Alex V.; Levy, Richard L.; Lyons, Christopher J.; Mackey, David A.; Magli, Adriano; Mantagos, Iason S.; Marti, Candice; Maystadt, Isabelle; McKenzie, Fiona; Menezes, Manoj P.; Mikail, Claudia N.; Miller, David T.; Miller, Kathryn Bisceglia; Mills, Monte D.; Miyana, Kaori; Moller, H.U.; Mullineaux, Lisa; Nishimura, Julie K.; Noble, A. Gwendolyn; Pandey, Pramod Kumar; Pavone, Piero; Penzien, Johann; Petersen, Robert; Phalen, James A.; Poduri, Annapurna; Polo, Claudia R.; Prasov, Lev; Ramos, Feliciano J.; Ramos-Caceres, Maria; Robb, Richard M.; Rossillion, Béatrice; Sahin, Mustafa; Singer, Harvey S.; Smith, Lois E.H.; Sorkin, Jeffrey A.; Soul, Janet S.; Staffieri, Sandra E.; Stalker, Heather J.; Stasheff, Steven F.; Strassberg, Sonya; Strominger, Mitchell B.; Taranath, Deepa Ajay; Thomas, Ioan Talfryn; Traboulsi, Elias I.; Ugrin, Maria Cristina; VanderVeen, Deborah K.; Vincent, Andrea L.; Vogel G, Marlene C.; Wabbels, Bettina; Wong, Agnes M.F.; Woods, C. Geoffrey; Wu, Carolyn; Yang, Edward; Yeung, Alison; Young, Terri L.; Zenteno, Juan C.; Zubcov-Iwantscheff, Alexandra A.; Zwaan, Johan; Jurgens, Julie A.; Barry, Brenda J.; Chan, Wai-Man; MacKinnon, Sarah; Whitman, Mary C.; Matos Ruiz, Paola M.; Pratt, Brandon M.; England, Eleina M.; Pais, Lynn; Lemire, Gabrielle; Groopman, Emily; Glaze, Carmen; Russell, Kathryn A.; Singer-Berk, Moriel; Di Gioia, Silvio Alessandro; Lee, Arthur S.; Andrews, Caroline; Shaaban, Sherin; Wirth, Megan M.; Bekele, Sarah; Toffoloni, Melissa; Bradford, Victoria R.; Foster, Emma E.; Berube, Lindsay; Rivera-Quiles, Cristina; Mensching, Fiona M.; Sanchis-Juan, Alba; Fu, Jack M.; Wong, Isaac; Zhao, Xuefang; Wilson, Michael W.; Weisburd, Ben; Lek, Monkol; Brand, Harrison; Talkowski, Michael E.; MacArthur, Daniel G.; O’Donnell-Luria, Anne; Robson, Caroline D.; Hunter, David G.; Engle, Elizabeth C.
In Genetics in Medicine July 2024
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[Author] Talkowski M
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