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
Guo, Michael H.; Francioli, Laurent C.; Stenton, Sarah L.; Goodrich, Julia K.; Watts, Nicholas A.; Singer-Berk, Moriel; Groopman, Emily; Darnowsky, Philip W.; Solomonson, Matthew; Baxter, Samantha; Tiao, Grace; Neale, Benjamin M.; Hirschhorn, Joel N.; Rehm, Heidi L.; Daly, Mark J.; O’Donnell-Luria, Anne; Karczewski, Konrad J.; MacArthur, Daniel G.; Samocha, Kaitlin E.
Nature Genetics. 56(1):152-161
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
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
Abouhala, Siwaar; Albert, Jessica; Almalvez, Miguel; Alvarez, Raquel; Amin, Mutaz; Anderson, Peter; Aradhya, Swaroop; Ashley, Euan; Assimes, Themistocles; Auriga, Light; Austin-Tse, Christina; Bamshad, Mike; Barseghyan, Hayk; Baxter, Samantha; Behera, Sairam; Beheshti, Shaghayegh; Bejerano, Gill; Berger, Seth; Bernstein, Jon; Best, Sabrina; Blankenmeister, Benjamin; Blue, Elizabeth; Boerwinkle, Eric; Bonkowski, Emily; Bonner, Devon; Boone, Philip; Bornhorst, Miriam; Brand, Harrison; Buckingham, Kati; Calame, Daniel; Carter, Jennefer; Casadei, Silvia; Chadwick, Lisa; Chavez, Clarisa; Chen, Ziwei; Chinn, Ivan; Chong, Jessica; Coban-Akdemir, Zeynep; Cohen, Andrea J.; Conner, Sarah; Conomos, Matthew; Coveler, Karen; Cui, Ya Allen; Currin, Sara; Daber, Robert; Dardas, Zain; Davis, Colleen; Dawood, Moez; de Dios, Ivan; de Esch, Celine; Delaney, Meghan; Delot, Emmanuele; DiTroia, Stephanie; Doddapaneni, Harsha; Du, Haowei; Duan, Ruizhi; Dugan-Perez, Shannon; Duong, Nhat; Duyzend, Michael; Eichler, Evan; Emami, Sara; Fraser, Jamie; Fusaro, Vincent; Galey, Miranda; Ganesh, Vijay; Garcia, Brandon; Garimella, Kiran; Gibbs, Richard; Gifford, Casey; Ginsburg, Amy; Goddard, Page; Gogarten, Stephanie; Gogate, Nikhita; Gordon, William; Gorzynski, John E.; Greenleaf, William; Grochowski, Christopher; Groopman, Emily; Sousa, Rodrigo Guarischi; Gudmundsson, Sanna; Gulati, Ashima; Hall, Stacey; Harvey, William; Hawley, Megan; Heavner, Ben; Horike-Pyne, Martha; Hu, Jianhong; Huang, Yongqing; Hwang, James; Jarvik, Gail; Jensen, Tanner; Jhangiani, Shalini; Jimenez-Morales, David; Jin, Christopher; Saad, Ahmed K.; Kahn-Kirby, Amanda; Kain, Jessica; Kaur, Parneet; Keehan, Laura; Knoblach, Susan; Ko, Arthur; Kundaje, Anshul; Kundu, Soumya; Lancaster, Samuel M.; Larsson, Katie; Lee, Arthur; Lemire, Gabrielle; Lewis, Richard; Li, Wei; Li, Yidan; Liu, Pengfei; LoTempio, Jonathan; Lupski, James (Jim); Ma, Jialan; MacArthur, Daniel; Mahmoud, Medhat; Malani, Nirav; Mangilog, Brian; Marafi, Dana; Marmolejos, Sofia; Marten, Daniel; Martinez, Eva; Marvin, Colby; Marwaha, Shruti; Mastrorosa, Francesco Kumara; Matalon, Dena; May, Susanne; McGee, Sean; Meador, Lauren; Mefford, Heather; Mendez, Hector Rodrigo; Miller, Alexander; Miller, Danny E.; Mitani, Tadahiro; Montgomery, Stephen; Moyses, Mariana; Munderloh, Chloe; Muzny, Donna; Nelson, Sarah; Nguyen, Thuy-mi P.; Nguyen, Jonathan; Nussbaum, Robert; Nykamp, Keith; O'Callaghan, William; O'Heir, Emily; O'Leary, Melanie; Olsen, Jeren; Osei-Owusu, Ikeoluwa; O'Donnell-Luria, Anne; Padhi, Evin; Pais, Lynn; Pan, Miao; Panchal, Piyush; Patterson, Karynne; Payne, Sheryl; Pehlivan, Davut; Petrowski, Paul; Pham, Alicia; Pitsava, Georgia; Podesta, Astaria`Sara; Ponce, Sarah; Porter, Elizabeth; Posey, Jennifer; Prosser, Jaime; Quertermous, Thomas; Rai, Archana; Ramani, Arun; Rehm, Heidi; Reuter, Chloe; Reuter, Jason; Richardson, Matthew; Rivera-Munoz, Andres; Rubio, Oriane; Sabo, Aniko; Salani, Monica; Samocha, Kaitlin; Sanchis-Juan, Alba; Savage, Sarah; Scott, Evette; Scott, Stuart; Sedlazeck, Fritz; Shah, Gulalai; Shojaie, Ali; Singh, Mugdha; Smith, Kevin; Smith, Josh; Snow, Hana; Snyder, Michael; Socarras, Kayla; Starita, Lea; Stark, Brigitte; Stenton, Sarah; Stergachis, Andrew; Stilp, Adrienne; Sutton, V. Reid; Tai, Jui-Cheng; Talkowski, Michael (Mike); Tise, Christina; Tong, Catherine (Cat); Tsao, Philip; Ungar, Rachel; VanNoy, Grace; Vilain, Eric; Voutos, Isabella; Walker, Kim; Wei, Chia-Lin; Weisburd, Ben; Weiss, Jeff; Wellington, Chris; Weng, Ziming; Westheimer, Emily; Wheeler, Marsha; Wheeler, Matthew; Wiel, Laurens; Wilson, Michael; Wojcik, Monica; Wong, Quenna; Xiao, Changrui; Yadav, Rachita; Yi, Qian; Yuan, Bo; Zhao, Jianhua; Zhen, Jimmy; Zhou, Harry; Chong, Jessica X.; Berger, Seth I.; Smith, Erica; Calame, Daniel G.; Hawley, Megan H.; Rivera-Munoz, E. Andres; Bamshad, Michael J.; Rehm, Heidi L.
In Genetics in Medicine October 2024 26(10)
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
Xiao-Fei Kong; Kelsie Bogyo; Sheena Kapoor; Patrick R. Shea; Emily E. Groopman; Amanda Thomas-Wilson; Enrico Cocchi; Hila Milo Rasouly; Beishi Zheng; Siming Sun; Junying Zhang; Mercedes Martinez; Jennifer M. Vittorio; Lorna M. Dove; Maddalena Marasa; Timothy C. Wang; Elizabeth C. Verna; Howard J. Worman; Ali G. Gharavi; David B. Goldstein; Julia Wattacheril
Scientific Reports, Vol 13, Iss 1, Pp 1-11 (2023)
Academic Journal
Byrne, Alicia; Spurdle, Amanda; Palculict, Blake; Coe, Bradley; Deqiong, Ma; Lyon, Elaine; Groopman, Emily; Qian, Emily; Puffenberger, Erik; Riggs, Erin; Couch, Fergus; Maston, Glenn; Dziadzio, Hannah; Harraway, James; Mester, Jessica; Garcia, John; Lerner-Ellis, Jordan; Benson, Katherine; Avello, Kayleigh; McGoldrick, Kelly; Conlin, Laura; Zec, Lauren; Steeves, Marcie; Richardson, Marcy; Lebo, Matt; Kelly, Melissa; Gollob, Michael; Luo, Minjie; Ganapathi, Mythily; Watkins, Nicholas; Niu, Nifang; Sergouniotis, Panagiotis; Bayrak-Toydemir, Pinar; Schmidt, Ryan; Schilit, Samantha; Richards, Sarah; Pesaran, Tina; Pollin, Toni; Jobanputra, Vaidehi; Zhang, Wenying; Chen, Wuyan; Fan, Yuxin; Schmidt, Ryan J.; Benson, Katherine A.; Coe, Bradley P.; Conlin, Laura K.; Gollob, Michael H.; Ma, Deqiong; Palculict, T. Blake; Pollin, Toni I.; Rehm, Heidi L.; Riggs, Erin R.; Schilit, Samantha L.P.; Sergouniotis, Panagiotis I.; Tvrdik, Tatiana; Lebo, Matthew S.
In Genetics in Medicine March 2024 26(3)
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