학술논문
'학술논문'
에서 검색결과 51건 | 목록
1~10
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; 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
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
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; 2024, Vol. 15 Issue 5, p389-397, 9p
Academic Journal
Maio, Nunziata; Orbach, Rotem; Zaharieva, Irina T.; Töpf, Ana; Donkervoort, Sandra; Munot, Pinki; Mueller, Juliane; Willis, Tracey; Verma, Sumit; Peric, Stojan; Krishnakumar, Deepa; Sudhakar, Sniya; Foley, A. Reghan; Silverstein, Sarah; Douglas, Ganka; Pais, Lynn; DiTroia, Stephanie; Grunseich, Christopher; Ying Hu; Sewry, Caroline
Academic Journal
Austin-Tse, Christina; DiTroia, Stephanie; O'Leary, Melanie; VanNoy, Grace; Mangilog, Brian; Shah, Gulalai; Martinez, Eva; Serrano, Jillian; Pais, Lynn; O'Heir, Emily; Osei-Owusu, Ikeoluwa; Lemire, Gabrielle; Ganesh, Vijay; Stenton, Sarah; Amin, Mutaz; Socarras, Kayla; Singh, Mugdha; Hall, Stacey; Larsson, Katie; Singer-Berk, Moriel; Marten, Daniel; Wilson, Michael; Snow, Hana; Blankenmeister, Benjamin; Ma, Jialan; Weisburd, Ben; Sanchis-Juan, Alba; Brand, Harrison; Groopman, Emily; Lovgren, Alysia; Williamson, Clara; Hollyer, Marissa; England, Eleina; Seaby, Eleanor; Chao, Katherine; Goodrich, Julia; Baxter, Samantha; MacArthur, Daniel; Talkowski, Michael; Wojcik, Monica; O'Donnell-Luria, Anne; Rehm, Heidi
In Genetics in Medicine Open 2024 2 Supplement 1
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
Human Genomics; 4/29/2024, Vol. 18 Issue 1, p1-25, 25p
Academic Journal
Chong, Jessica X.; Berger, Seth I.; Baxter, Samantha; Smith, Erica; Xiao, Changrui; Calame, Daniel G.; Hawley, Megan H.; Rivera-Munoz, E. Andres; DiTroia, Stephanie; Bamshad, Michael J.; Rehm, Heidi L.; Genomics Res Elucidate Genetics Rare Dis GREGoR Consortium
Academic Journal
Blackburn, Patrick R.; Ebstein, Frederic; Hsieh, Tzung-Chien; Motta, Marialetizia; Radio, Francesca Clementina; Herkert, Johanna C.; Rinne, Tuula; Thiffault, Isabelle; Rapp, Michele; Alders, Mariel; Maas, Saskia; Gerard, Benedicte; Smol, Thomas; Vincent-Delorme, Catherine; Cogne, Benjamin; Isidor, Bertrand; Vincent, Marie; Bachmann-Gagescu, Ruxandra; Rauch, Anita; Joset, Pascal; Ferrero, Giovanni Battista; Ciolfi, Andrea; Husson, Thomas; Guerrot, Anne-Marie; Bacino, Carlos; Macmurdo, Colleen; Thompson, Stephanie S.; Rosenfeld, Jill A.; Faivre, Laurence; Mau-Them, Frederic Tran; Deb, Wallid; Vignard, Virginie; Agrawal, Pankaj B.; Madden, Jill A.; Goldenberg, Alice; Lecoquierre, Francois; Zech, Michael; Prokisch, Holger; Necpal, Jan; Jech, Robert; Winkelmann, Juliane; Koprusakova, Monika Turcanova; Konstantopoulou, Vassiliki; Younce, John R.; Shinawi, Marwan; Mighton, Chloe; Fung, Charlotte; Morel, Chantal F.; Lerner-Ellis, Jordan; Ditroia, Stephanie; Barth, Magalie; Bonneau, Dominique; Krapels, Ingrid; Stegmann, Alexander P. A.; van Der Schoot, Vyne; Brunet, Theresa; Bussmann, Cornelia; Mignot, Cyril; Zampino, Giuseppe; Wortmann, Saskia B.; Mayr, Johannes A.; Feichtinger, Rene G.; Courtin, Thomas; Ravelli, Claudia; Keren, Boris; Ziegler, Alban; Hasadsri, Linda; Pichurin, Pavel N.; Klee, Eric W.; Grand, Katheryn; Sanchez-Lara, Pedro A.; Krueger, Elke; Bezieau, Stephane; Klinkhammer, Hannah; Krawitz, Peter Michael; Eichler, Evan E.; Tartaglia, Marco; Kuery, Sebastien; Wang, Tianyun
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[AR] DiTroia, Stephanie
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