학술논문
'학술논문'
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1~10
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
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
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
Sandra Donkervoort; Payam Mohassel; Melanie O'Leary; Devon E. Bonner; Taila Hartley; Nicole Acquaye; Astrid Brull; Tahseen Mozaffar; Mario A. Saporta; David A. Dyment; Jacinda B. Sampson; Sander Pajusalu; Christina Austin‐Tse; Kyle Hurth; Julie S. Cohen; Kirsty McWalter; Jodi Warman‐Chardon; Amy Crunk; A. Reghan Foley; Undiagnosed Diseases Network; Andrew L. Mammen; Matthew T. Wheeler; Anne O'Donnell‐Luria; Carsten G. Bönnemann
Annals of Clinical and Translational Neurology, Vol 11, Iss 3, Pp 629-640 (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)
De novo TLK1 and MDM1 mutations in a patient with a neurodevelopmental disorder and immunodeficiency
Academic Journal
Marina Villamor-Payà; María Sanchiz-Calvo; Jordann Smak; Lynn Pais; Malika Sud; Uma Shankavaram; Alysia Kern Lovgren; Christina Austin-Tse; Vijay S. Ganesh; Marina Gay; Marta Vilaseca; Gianluca Arauz-Garofalo; Lluís Palenzuela; Grace VanNoy; Anne O’Donnell-Luria; Travis H. Stracker
iScience, Vol 27, Iss 6, Pp 109984- (2024)
Academic Journal
Nauffal, Victor; Morrill, Valerie N; Jurgens, Sean J; Choi, Seung Hoan; Hall, Amelia W; Weng, Lu-Chen; Halford, Jennifer L; Austin-Tse, Christina; Haggerty, Christopher M; Harris, Stephanie L; Wong, Eugene K; Alonso, Alvaro; Arking, Dan E; Benjamin, Emelia J; Boerwinkle, Eric; Min, Yuan-I; Correa, Adolfo; Fornwalt, Brandon K; Heckbert, Susan R; National Heart, Lung, and Blood Institute Trans-Omics for Precision Medicine (TOPMed) Consortium; Kooperberg, Charles; Lin, Henry J; J F Loos, Ruth; Rice, Kenneth M; Gupta, Namrata; Blackwell, Thomas W; Mitchell, Braxton D; Morrison, Alanna C; Psaty, Bruce M; Post, Wendy S; Redline, Susan; Rehm, Heidi L; Rich, Stephen S; Rotter, Jerome I; Soliman, Elsayed Z; Sotoodehnia, Nona; Lunetta, Kathryn L; Ellinor, Patrick T; Lubitz, Steven A; TOPMed Investigators
Circulation. 145(20)
De novo TLK1 and MDM1 mutations in a patient with a neurodevelopmental disorder and immunodeficiency
Academic Journal
Villamor-Payà, Marina; Sanchiz-Calvo, María; Smak, Jordann; Pais, Lynn; Sud, Malika; Shankavaram, Uma; Lovgren, Alysia Kern; Austin-Tse, Christina; Ganesh, Vijay S.; Gay, Marina; Vilaseca, Marta; Arauz-Garofalo, Gianluca; Palenzuela, Lluís; VanNoy, Grace; O’Donnell-Luria, Anne; Stracker, Travis H.
In iScience 21 June 2024 27(6)
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
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