학술논문
'학술논문'
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1~10
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
Sarah L. Stenton; Melanie C. O’Leary; Gabrielle Lemire; Grace E. VanNoy; Stephanie DiTroia; Vijay S. Ganesh; Emily Groopman; Emily O’Heir; Brian Mangilog; Ikeoluwa Osei-Owusu; Lynn S. Pais; Jillian Serrano; Moriel Singer-Berk; Ben Weisburd; Michael W. Wilson; Christina Austin-Tse; Marwa Abdelhakim; Azza Althagafi; Giulia Babbi; Riccardo Bellazzi; Samuele Bovo; Maria Giulia Carta; Rita Casadio; Pieter-Jan Coenen; Federica De Paoli; Matteo Floris; Manavalan Gajapathy; Robert Hoehndorf; Julius O. B. Jacobsen; Thomas Joseph; Akash Kamandula; Panagiotis Katsonis; Cyrielle Kint; Olivier Lichtarge; Ivan Limongelli; Yulan Lu; Paolo Magni; Tarun Karthik Kumar Mamidi; Pier Luigi Martelli; Marta Mulargia; Giovanna Nicora; Keith Nykamp; Vikas Pejaver; Yisu Peng; Thi Hong Cam Pham; Maurizio S. Podda; Aditya Rao; Ettore Rizzo; Vangala G. Saipradeep; Castrense Savojardo; Peter Schols; Yang Shen; Naveen Sivadasan; Damian Smedley; Dorian Soru; Rajgopal Srinivasan; Yuanfei Sun; Uma Sunderam; Wuwei Tan; Naina Tiwari; Xiao Wang; Yaqiong Wang; Amanda Williams; Elizabeth A. Worthey; Rujie Yin; Yuning You; Daniel Zeiberg; Susanna Zucca; Constantina Bakolitsa; Steven E. Brenner; Stephanie M. Fullerton; Predrag Radivojac; Heidi L. Rehm; Anne O’Donnell-Luria
Human Genomics, Vol 18, Iss 1, Pp 1-25 (2024)
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
Rauan Kaiyrzhanov; Luke Perry; Clarissa Rocca; Maha S. Zaki; Heba Hosny; Cristiane Araujo Martins Moreno; Rahul Phadke; Irina Zaharieva; Clara Camelo Gontijo; Christian Beetz; Veronica Pini; Mojtaba Movahedinia; Edmar Zanoteli; Stephanie DiTroia; Sandrine Vuillaumier‐Barrot; Arnaud Isapof; Mohammad Yahya Vahidi Mehrjardi; Nasrin Ghasemi; Anna Sarkozy; Francesco Muntoni; Sandra Whalen; Barbara Vona; Henry Houlden; Reza Maroofian
Annals of Clinical and Translational Neurology, Vol 9, Iss 9, Pp 1465-1474 (2022)
Academic Journal
Chong, J.X.; Bamshad, M.J.; Berger, S.I.; Baxter, S.; DiTroia, S.; Rehm, H.L.; Smith, E.; Xiao, C.; Calame, D.G.; Hawley, M.H.; Rivera-Munoz, E.A.; Abouhala, S.; Amin, M.; Austin-Tse, C.; Blankenmeister, B.; Brand, H.; Ganesh, V.; Garimella, K.; Gudmundsson, S.; Hall, S.; Huang, Y.; Larsson, K.; Lee, A.; Lemire, G.; Ma, J.; MacArthur, D.; Mangilog, B.; Marten, D.; Martinez, E.; O'Heir, E.; O'Leary, M.; Osei-Owusu, I.; O'Donnell-Luria, A.; Pais, L.; Pham, A.; Rehm, H.; Salani, M.; Samocha, K.; Sanchis-Juan, A.; Shah, G.; Singh, M.; Snow, H.; Socarras, K.; Talkowski, M.M.; VanNoy, G.; Weisburd, B.; Wilson, M.; Wojcik, M.; Yadav, R.; Albert, J.; Barseghyan, H.; Berger, S.; Bornhorst, M.; Cohen, A.J.; Delaney, M.; Delot, E.; Duong, N.; Fraser, J.; Gulati, A.; Knoblach, S.; Ko, A.; Marmolejos, S.; Pan, M.; Pitsava, G.; Almalvez, M.; Cui, Y.A.; de Dios, I.; Fusaro, V.; Kahn-Kirby, A.; Li, W.; LoTempio, J.; Vilain, E.; Alvarez, R.; Ashley, E.; Assimes, T.; Bejerano, G.; Bernstein, J.; Bonner, D.; Carter, J.; Chavez, C.; Chen, Z.; Emami, S.; Gifford, C.; Goddard, P.; Gorzynski, J.E.; Greenleaf, W.; Sousa, R.G.; Jensen, T.; Jimenez-Morales, D.; Jin, C.; Kain, J.; Keehan, L.; Kundaje, A.; Kundu, S.; Lancaster, S.M.; Marwaha, S.; Matalon, D.; Meador, L.; Mendez, H.R.; Miller, A.; Montgomery, S.; Nguyen, T.-M.P.; Nguyen, J.; Olsen, J.; Padhi, E.; Petrowski, P.; Podesta, A.S.; Porter, E.; Quertermous, T.; Reuter, C.; Rubio, O.; Scott, S.; Smith, K.; Snyder, M.; Stark, B.; Tise, C.; Tsao, P.; Ungar, R.; Voutos, I.; Weng, Z.; Wheeler, M.; Wiel, L.; Zhen, J.; Anderson, P.; Bamshad, M.; Best, S.; Blue, E.; Bonkowski, E.; Buckingham, K.; Casadei, S.; Chong, J.; Conner, S.; Conomos, M.; Davis, C.; Eichler, E.; Galey, M.; Ginsburg, A.; Gogarten, S.; Gordon, W.; Harvey, W.; Heavner, B.; Horike-Pyne, M.; Jarvik, G.; Marvin, C.; Mastrorosa, F.K.; May, S.; McGee, S.; Miller, D.E.; Nelson, S.; Patterson, K.; Payne, S.; Prosser, J.; Richardson, M.; Shojaie, A.; Smith, J.; Starita, L.; Stergachis, A.; Stilp, A.; Tong, C.C.; Wei, C.-L.; Weiss, J.; Wheeler, M.; Wong, Q.; Yi, Q.; Aradhya, S.; Auriga, L.; Daber, R.; Hawley, M.; Malani, N.; Nussbaum, R.; Nykamp, K.; O'Callaghan, W.; Ramani, A.; Reuter, J.; Savage, S.; Westheimer, E.; Zhao, J.; Zhou, H.; Behera, S.; Beheshti, S.; Calame, D.; Chinn, I.; Coveler, K.; Dardas, Z.; Dawood, M.; Doddapaneni, H.; Du, H.; Duan, R.; Dugan-Perez, S.; Garcia, B.; Gibbs, R.; Gogate, N.; Grochowski, C.; Hu, J.; Hwang, J.; Jhangiani, S.; Saad, A.K.; Kaur, P.; Lewis, R.; Li, Y.; Liu, P.; Lupski, J.J.; Mahmoud, M.; Munderloh, C.; Muzny, D.; Panchal, P.; Ponce, S.; Posey, J.; Rai, A.; Rivera-Munoz, A.; Sabo, A.; Scott, E.; Sedlazeck, F.; Walker, K.; Yuan, B.; Boerwinkle, E.; Coban-Akdemir, Z.; Boone, P.; de Esch, C.; Moyses, M.; Tai, J.-C.; Chadwick, L.; Currin, S.; Wellington, C.; Duyzend, M.; Groopman, E.; Stenton, S.; Marafi, D.; Mefford, H.; Mitani, T.; Pehlivan, D.; Sutton, V.R.
In: Genetics in Medicine . (Genetics in Medicine, October 2024, 26(10))
Academic Journal
Maio, N.; Rouault, T.A.; Orbach, R.; Donkervoort, S.; Foley, A.R.; Silverstein, S.; Grunseich, C.; Hu, Y.; Bönnemann, C.G.; Zaharieva, I.T.; Munot, P.; Mueller, J.; Sewry, C.; Sarkozy, A.; Muntoni, F.; Töpf, A.; Straub, V.; Willis, T.; Verma, S.; Peric, S.; Krishnakumar, D.; Sudhakar, S.; Douglas, G.; Pais, L.; DiTroia, S.
In: Journal of Clinical Investigation . (Journal of Clinical Investigation, 17 June 2024, 134(12))
Academic Journal
Wojcik, M.H.; Agrawal, P.B.; Win, W.; Stenton, S.L.; Madden, J.A.; Lin, J.; Genetti, C.A.; Gazda, H.T.; Beggs, A.H.; O'Donnell-Luria, A.; Lemire, G.; Pais, L.; Groopman, E.; Ganesh, V.S.; Shril, S.; Schneider, R.; Hildebrandt, F.; Chung, W.K.; Wissmann, M.; Verboon, J.M.; Sankaran, V.G.; Cato, L.D.; Sanchis-Juan, A.; Goodrich, J.; Gburek-Augustat, J.; Fu, J.M.; Brand, H.; Talkowski, M.; Austin-Tse, C.; Rehm, H.L.; Pierce, E.A.; Place, E.M.; Bujakowska, K.M.; Weisburd, B.; VanNoy, G.E.; Snow, H.; Singer-Berk, M.; Seaby, E.G.; Russell, K.A.; Osei-Owusu, I.; O'Leary, M.; O'Heir, E.; Mangilog, B.E.; MacArthur, D.; Lovgren, A.; Evangelista, E.; England, E.; DiTroia, S.; Chao, K.R.; Baxter, S.M.; Berger, E.; Strehlow, V.; Radtke, M.; Popp, D.; Platzer, K.; Opperman, H.; Hentschel, J.; Bartolomaeus, T.; Jamra, R.A.; Merkenschlager, A.; Wieczorek, D.; Syrbe, S.; Polster, T.; Zaki, M.S.; White, S.M.; Tan, T.Y.; Gallacher, L.; Christodoulou, J.; Waddell, L.B.; Marchant, R.G.; Cooper, S.T.; Bryen, S.J.; Ravenscroft, G.; Laing, N.; Ghaoui, R.; Topf, A.; Straub, V.; Silver, J.; Morel, C.F.; Lerner-Ellis, J.P.; Reinson, K.; Pajusalu, S.; Ounap, K.; Oja, K.T.; Okur, V.; Ganapathi, M.; Gleeson, J.G.; Donkervoort, S.; Bonnemann, C.G.
In: New England Journal of Medicine . (New England Journal of Medicine, 6 June 2024, 390(21):1985-1997)
Academic Journal
Ansari, M.; Grimes, G.; Blatnik, A.; FitzPatrick, D.R.; Faour, K.N.W.; Rockowitz, S.; Groopman, E.; O'Donnell-Luria, A.; Boone, P.M.; Ballal, S.; Srivastava, S.; Shimamura, A.; Kao, E.M.; Denhoff, E.R.; Ben-Isvy, D.; Wang, L.; Talkowski, M.E.; Singer-Berk, M.; DiTroia, S.; Helm, B.M.; Breman, A.M.; Iwata-Otsubo, A.; Firth, H.; Bijlsma, E.K.; de Ravel, T.J.L.; Fusaro, V.; Nykamp, K.; Fryer, A.; Stühn, L.G.; Haack, T.B.; Korenke, G.C.; Constantinou, P.; Bujakowska, K.M.; Place, E.; Low, K.J.; Humberson, J.; Napier, M.P.; Hoffman, J.; Juusola, J.; Deardorff, M.A.; Shao, W.; Krantz, I.; Kaur, M.; Raible, S.; Dortenzio, V.; Kliesch, S.; Rothfelder, K.; Biskup, S.; Rzasa, J.; Kerkhof, J.; McConkey, H.; Sadikovic, B.; Hilton, S.; Banka, S.; Tüttelmann, F.; Conrad, D.F.
In: Human Genetics and Genomics Advances . (Human Genetics and Genomics Advances, 11 April 2024, 5(2))
Periodical
Bertrand, Miriam; Shah, Gulalai; Pedersen, Brent S.; Schulz, Alexander; Weise, Anja; Liehr, Thomas; Huppke, Peter; DiTroia, Stephanie; Quinlan, Aaron R.; Haack, Tobias B.; Husain, Ralf A.
Molecular Syndromology; 20240101, Issue: Preprints p1-9, 9p
Academic Journal
Akula, Shyam K.; Chen, Allen Y.; Neil, Jennifer E.; Shao, Diane D.; Mo, Alisa; Hylton, Norma K.; DiTroia, Stephanie; Ganesh, Vijay S.; Smith, Richard S.; O'Kane, Katherine; Yeh, Rebecca C.; Marciano, Jack H.; Kirkham, Samantha; Kenny, Connor J.; Song, Janet H. T.; Al Saffar, Muna; Millan, Francisca; Harris, David J.; Murphy, Andrea V.; Klemp, Kara C.
JAMA Neurology; Sep2023, Vol. 80 Issue 9, p980-988, 9p
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