학술논문
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'학술논문'
에서 검색결과 85건 | 목록
1~20
Academic Journal
Keefe, Alexandra C. ; Scott, Abbey A. ; Kruidenier, Lukas ; Conta, Jessie ; Sternen, Darci ; Clowes Candadai, Sarah ; Stasi, Shannon M. ; Parish-Morris, Julia ; Sikes, Megan ; Adam, Margaret P. ; Beck, Anita E. ; Hayek, Jennifer C. ; Glass, Ian ; Bennett, James T. ; Mirzaa, Ghayda ; Kruszka, Paul ; McWalter, Kirsty ; Copenheaver, Deborah ; Friedman, Bethany ; Bamshad, Mike ; Dipple, Katrina M. ; Wenger, Tara L.
In The Journal of Pediatrics November 2025 286
Academic Journal
Verbinnen, Iris ; Douzgou Houge, Sofia ; Hsieh, Tzung-Chien ; Lesmann, Hellen ; Kirchhoff, Aron ; Geneviève, David ; Brimble, Elise ; Lenaerts, Lisa ; Haesen, Dorien ; Levy, Rebecca J. ; Thevenon, Julien ; Faivre, Laurence ; Marco, Elysa ; Chong, Jessica X. ; Bamshad, Mike ; Patterson, Karynne ; Mirzaa, Ghayda M. ; Foss, Kimberly ; Dobyns, William ; White, Susan M. ; Pais, Lynn ; O’Heir, Emily ; Itzikowitz, Raphaela ; Donald, Kirsten A. ; Van der Merwe, Celia ; Mussa, Alessandro ; Cervini, Raffaela ; Giorgio, Elisa ; Roscioli, Tony ; Dias, Kerith-Rae ; Evans, Carey-Anne ; Brown, Natasha J. ; Ruiz, Anna ; Trujillo Quintero, Juan Pablo ; Rabin, Rachel ; Pappas, John ; Yuan, Hai ; Lachlan, Katherine ; Thomas, Simon ; Devlin, Anita ; Wright, Michael ; Martin, Richard ; Karwowska, Joanna ; Posmyk, Renata ; Chatron, Nicolas ; Stark, Zornitza ; Heath, Oliver ; Delatycki, Martin ; Buchert, Rebecca ; Korenke, Georg-Christoph ; Ramsey, Keri ; Narayanan, Vinodh ; Grange, Dorothy K. ; Weisenberg, Judith L. ; Haack, Tobias B. ; Karch, Stephanie ; Kipkemoi, Patricia ; Mangi, Moses ; Bindels de Heus, Karen G.C.B. ; de Wit, Marie-Claire Y. ; Barakat, Tahsin Stefan ; Lim, Derek ; Van Winckel, Géraldine ; Spillmann, Rebecca C. ; Shashi, Vandana ; Jacob, Maureen ; Stehr, Antonia M. ; Krawitz, Peter ; Douzgos Houge, Gunnar ; Janssens, Veerle
In The American Journal of Human Genetics 6 March 2025 112(3):554-571
Academic Journal
Vanlerberghe, Clémence ; Jourdain, Anne Sophie ; Frenois, Frédéric ; Ait-Yahya, Emilie ; Bamshad, Mike ; Dieux, Anne ; Dufour, William ; Leduc, Fiona ; Manouvrier-Hanu, Sylvie ; Patterson, Karynne ; Ghoumid, Jamal ; Escande, Fabienne ; Smol, Thomas ; Brunelle, Perrine ; Petit, Florence
In Genetics in Medicine December 2024 26(12)
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
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; Bozkurt-Yozgatli, Tugce; Brand, Harrison; Buckingham, Kati; Calame, Daniel; 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; Délot, Emmanuèle; DiTroia, Stephanie; Doddapaneni, Harsha; Du, Haowei; Duan, Ruizhi; Dugan-Perez, Shannon; Duong, Nhat; Duyzend, Michael; Eichler, Evan; Emami, Sara; Fatih, Jawid; Fraser, Jamie; Fusaro, Vincent; Galey, Miranda; Ganesh, Vijay; Garimella, Kiran; Gibbs, Richard; Gifford, Casey; Ginsburg, Amy; Goddard, Pagé; Gogarten, Stephanie; Gogate, Nikhita; Gordon, William; Gorzynski, John E.; Greenleaf, William; Grochowski, Christopher; Groopman, Emily; Guarischi Sousa, Rodrigo; Gudmundsson, Sanna; Gulati, Ashima; Guo, Daniel; Hale, Walker; Hall, Stacey; Harvey, William; Hawley, Megan; Heavner, Ben; Herman, Isabella; 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; Kohler, Jennefer; Kundaje, Anshul; Kundu, Soumya; Lancaster, Samuel M.; Larsson, Katie; Lemire, Gabrielle; Lewis, Richard; Li, Wei; Li, Yidan; Liu, Pengfei; LoTempio, Jonathan; Lupski, James; Ma, Jialan; MacArthur, Daniel; Mahmoud, Medhat; Malani, Nirav; Mangilog, Brian; Marafi, Dana; Marmolejos, Sofia; Marten, Daniel; Martinez, Eva; Marvin, Colby; Marwaha, Shruti; Kumara Mastrorosa, Francesco; Matalon, Dena; May, Susanne; McGee, Sean; Meador, Lauren; Mefford, Heather; Rodrigo Mendez, Hector; Miller, Alexander; Miller, Danny E.; Mitani, Tadahiro; Montgomery, Stephen; Moussa, Hala Mohamed; Moyses, Mariana; Munderloh, Chloe; Muzny, Donna; Nelson, Sarah; Neu, Matthew B.; Nguyen, Jonathan; Nguyen, Thuy-mi P.; 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; Ponce, Sarah; 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, Stuart; Scott, Evette; Sedlazeck, Fritz; Shah, Gulalai; Shojaie, Ali; Singh, Mugdha; Smith, Josh; Smith, Kevin; Snow, Hana; Snyder, Michael; Socarras, Kayla; Starita, Lea; Stark, Brigitte; Stenton, Sarah; Stergachis, Andrew; Stilp, Adrienne; Sundaram, Laksshman; Sutton, V. Reid; Tai, Jui-Cheng; Talkowski, Michael; Tise, Christina; Tong, Catherine; Tsao, Philip; Ungar, Rachel; VanNoy, Grace; Vilain, Eric; Voutos, Isabella; Walker, Kim; Weisburd, Ben; Weiss, Jeff; Wellington, Chris; Weng, Ziming; Westheimer, Emily; Wheeler, Marsha; Wheeler, Matthew; Wiel, Laurens; Wilson, Michael; Wojcik, Monica; Wong, Quenna; Wong, Issac; Xiao, Changrui; Yadav, Rachita; Yi, Qian; Yuan, Bo; Zhao, Jianhua; Zhen, Jimmy; Zhou, Harry; Wojcik, Monica H. ; Reuter, Chloe M. ; Duyzend, Michael H. ; Boone, Philip M. ; Groopman, Emily E. ; Délot, Emmanuèle C. ; Jain, Deepti ; Starita, Lea M. ; Montgomery, Stephen B. ; Bamshad, Michael J. ; Chong, Jessica X. ; Wheeler, Matthew T. ; Berger, Seth I. ; Sedlazeck, Fritz J.
In The American Journal of Human Genetics 3 August 2023 110(8):1229-1248
Academic Journal
Sung, Sandy S. ; Brassington, Anna-Marie E. ; Grannatt, Kathryn ; Rutherford, Ann ; Whitby, Frank G. ; Krakowiak, Patrycja A. ; Jorde, Lynn B. ; Carey, John C. ; Bamshad, Mike
In The American Journal of Human Genetics 2003 72(3):681-690
Academic Journal
In Genetics in Medicine September 2001 3(5):349-353
Academic Journal
van Bokhoven, Hans ; Hamel, Ben C.J. ; Bamshad, Mike ; Sangiorgi, Eugenio ; Gurrieri, Fiorella ; Duijf, Pascal H.G. ; Vanmolkot, Kaate R.J. ; van Beusekom, Ellen ; van Beersum, Sylvia E.C. ; Celli, Jacopo ; Merkx, Gerard F.M. ; Tenconi, Romano ; Fryns, Jean Pierre ; Verloes, Alain ; Newbury-Ecob, Ruth A. ; Raas-Rotschild, Annick ; Majewski, Frank ; Beemer, Frits A. ; Janecke, Andreas ; Chitayat, David ; Crisponi, Giangiorgio ; Kayserili, Hülya ; Yates, John R.W. ; Neri, Giovanni ; Brunner, Han G.
In The American Journal of Human Genetics 2001 69(3):481-492
Academic Journal
Mummidi, Srinivas ; Bamshad, Mike ; Ahuja, Seema S. ; Gonzalez, Enrique ; Feuillet, Pablo M. ; Begum, Kazi ; Galvis, M.Cristina ; Kostecki, Vannessa ; Valente, Anthony J. ; Murthy, Krishna K. ; Haro, Luis ; Dolan, Matthew J. ; Allan, Jonathan S. ; Ahuja, Sunil K.
In Journal of Biological Chemistry 23 June 2000 275(25):18946-18961
Academic Journal
Pitsava, Georgia; Feldkamp, Marcia L.; Pankratz, Nathan; Lane, John; Kay, Denise M.; Conway, Kristin M.; Shaw, Gary M.; Reefhuis, Jennita; Jenkins, Mary M.; Almli, Lynn M.; Olshan, Andrew F.; Pangilinan, Faith; Brody, Lawrence C.; Sicko, Robert J.; Hobbs, Charlotte A.; Bamshad, Mike; McGoldrick, Daniel; Nickerson, Deborah A.; Finnell, Richard H.; Mullikin, James
American Journal of Medical Genetics. Part A; Oct2021, Vol. 185 Issue 10, p3028-3041, 14p
Academic Journal
Academic Journal
Wood, Elizabeth T.; Stover, Daryn A.; Ehret, Christopher; Destro-Bisol, Giovanni; Spedini, Gabriella; McLeod, Howard; Louie, Leslie; Bamshad, Mike; Strassmann, Beverly I.; Soodyall, Himla; Hammer, Michael F.
Academic Journal
Bonora, Elena; Bianco, Francesca; Agnese, Stanzani; Diquigiovanni, Chiara; Rinaldi, Rita; D'Angelo, Roberto; Cogliandro, Rosanna; Smith, Joshua D.; Nickerson, Deborah; Bamshad, Mike; Assadi, Ghazaleh; Clavenzani, Paolo; Lindberg, Greger; D'Amato, Mauro; Graziano, Claudio; Stanghellini, Vincenzo; Seri, Marco; De Giorgio, Roberto
In Gastroenterology April 2017 152(5) Supplement 1:S129-S129
Academic Journal
Bonora, Elena; Bianco, Francesca; Bamshad, Mike; Dowless, Dustin; Francescatto, Ludmila; Katsanis, Nicholas; Cooper, Gregory; Savic, Daniel; Stanghellini, Vincenzo; Mungan, Zeynel; Cefle, Kivanc; Cogliandro, Rosanna; Boschetti, Elisa; Graziano, Claudio; Seri, Marco; Romeo, Giovanni; De Giorgio, Roberto
In Gastroenterology May 2014 146(5) Supplement 1:S
Academic Journal
In Gastroenterology 2008 134(4) Supplement 1:A
Academic Journal
The New England Journal of Medicine. August 25, 2005, Vol. 353 Issue 8, p937, 10 p.
Academic Journal
Wooding, Stephen; Ostler, Christopher; Prasad, B. V. Ravi; Watkins, W. Scott; Sung, Sandy; Bamshad, Mike; Jorde, Lynn B.
Academic Journal
Mangano, Andrea; Gonzalez, Enrique; Dhanda, Rahul; Catano, Gabriel; Bamshad, Mike; Bock, Amanda; Duggirala, Ravindranath; Williams, Ken; Mummidi, Srinivas; Clark, Robert A.; Ahuja, Seema S.; Dolan, Matthew J.; Bologna, Rosa; Sen, Luisa; Ahuja, Sunil K.
Academic Journal
Gonzalez, Enrique; Dhanda, Rahul; Bamshad, Mike; Mimmidi, Srinivas; Geevarghese, Reni; Catano, Gabriel; Anderson, Stephanie A.; Walter, Elizabeth A.; Stephan, Kevin T.; Hammer, Michael F.; Mangano, Andrea; Sen, Luisa; Clark, Robert A.; Ahuja, Seema S.; Dolan, Matthew J.; Ahuja, Sunil K.
Academic Journal
JAMA: The Journal of the American Medical Association. Jan 25, 2006 295(4):385-386
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