학술논문
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'학술논문'
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1~20
Academic Journal
Ng, Bobby G.; Eklund, Erik A.; Rosenfeld, Jill A.; Elias, Abdallah F.; Abu-El-Haija, Aya; Bris, Celine; Barth, Magalie; Chae, Jong Hee; Choi, Murim; Dubbs, Holly A.; Fratter, Carl; Foulds, Nicola; Gamble, Candace; Gavrilova, Ralitza H.; Haven, Jaclyn; Hoffman, Trevor L.; Hunter, Jill V.; Larson, Austin; Lotze, Timothy Edward; Magoulas, Pilar; Magness, Emily C.; Bootin, Debra M.; Marsh, Eric D.; Nesbitt, Victoria; Pastore, Matthew T.; Poulton, Joanna; Rahman, Shamima; Scaglia, Fernando; Murali, Chaya; Posey, Jennifer; Rotenberg, Joshua; Schmalz, Betsy; Shinde, Deepali N.; Powis, Zöe; Sukenik-Halevy, Rivka; Truxal, Kristen V.; Uster, Tami; Machado Bressan Wilke, Matheus Vernet; Klee, Erik; Woo, Hyewon; Younkin, Donald; Zhao, Jianhua; Granadillo, Jorge; Lalani, Seema; Chitayat, David; Chung, Wendy K.; Freeze, Hudson H.; Okur, Volkan
Genetics in Medicine Open. 3
Academic Journal
Rivera-Munoz, E. Andres; Zhao, Xiaonan E.; Rosenfeld, Jill A.; Luna, Pamela N.; Shaw, Chad A.; Posey, Jennifer E.; Scott, Daryl A.
European Journal of Human Genetics. 33(12):1606-1615
Academic Journal
Dawood, Moez; Heavner, Ben; Wheeler, Marsha M.; Ungar, Rachel A.; LoTempio, Jonathan; Wiel, Laurens; Berger, Seth; Bernstein, Jonathan A.; Chong, Jessica X.; Délot, Emmanuèle C.; Eichler, Evan E.; Lupski, James R.; Shojaie, Ali; Talkowski, Michael E.; Wagner, Alex H.; Wei, Chia-Lin; Wellington, Christopher; Wheeler, Matthew T.; Carvalho, Claudia M. B.; Gibbs, Richard A.; Gifford, Casey A.; May, Susanne; Miller, Danny E.; Rehm, Heidi L.; Samocha, Kaitlin E.; Sedlazeck, Fritz J.; Vilain, Eric; O’Donnell-Luria, Anne; Posey, Jennifer E.; Chadwick, Lisa H.; Bamshad, Michael J.; Montgomery, Stephen B.
Nature: International weekly journal of science. 647(8089):331-342
Report
Dawood, Moez; Heavner, Ben; Wheeler, Marsha M.; Ungar, Rachel A.; LoTempio, Jonathan; Wiel, Laurens; Berger, Seth; Bernstein, Jonathan A.; Chong, Jessica X.; Délot, Emmanuèle C.; Eichler, Evan E.; Gibbs, Richard A.; Lupski, James R.; Shojaie, Ali; Talkowski, Michael E.; Wagner, Alex H.; Wei, Chia-Lin; Wellington, Christopher; Wheeler, Matthew T.; Members, GREGoR Partner; Carvalho, Claudia M. B.; Gifford, Casey A.; May, Susanne; Miller, Danny E.; Rehm, Heidi L.; Sedlazeck, Fritz J.; Vilain, Eric; O'Donnell-Luria, Anne; Posey, Jennifer E.; Chadwick, Lisa H.; Bamshad, Michael J.; Montgomery, Stephen B.; Diseases, Genomics Research to Elucidate the Genetics of Rare; Consortium
Academic Journal
Wang, Yingxi; Sams, Eleanor I.; Slaugh, Rachel; Crocker, Sandra; Hurtado, Emily Cordova; Tracy, Sophia; Hou, Ying-Chen Claire; Markovic, Christopher; Valle, Kostandin; Tate, Victoria; Belhassan, Khadija; Appelbaum, Elizabeth; Akinwe, Titilope; Starosta, Rodrigo T.; Cao, Yang; Neilson, Amber; Liu, Yu; Jensen, Nathaniel; Ghasemi, Reza; Lindsay, Tina; Manuel, Juana; Couteranis, Sophia; Kremitzki, Milinn; Ustanik, Jack; Antonacci, Thomas; Ng, Jeffrey K.; Emory, Andrew; Metz, Laura; DeLuca, Tracie; Lyons, Katherine N.; Sinnwell, Toni; Thomeczek, Brianne; Wang, Kymme; Sisneros, Nick; Muraleedharan, Megha; Kethireddy, Anantha; Corbo, Marco; Gowda, Harsha; King, Katherine A.; Gurnett, Christina A.; Dutcher, Susan K.; Gooch, Catherine; Li, Yang E.; Mitchell, Matthew W.; Peterson, Kevin A.; Horani, Amjad; Rosenfeld, Jill A.; Bi, Weimin; Stankiewicz, Pawel; Chao, Hsiao-Tuan; Posey, Jennifer E.; Grochowski, Christopher M.; Dardas, Zain; Puffenberger, Erik G.; Pearson, Christopher E.; Kooy, Frank; Annear, Dale; Innes, A. Micheil; Heinz, Michael; Head, Richard; Fulton, Robert; Toutain, Stephan; Antonacci-Fulton, Lucinda; Cui, Xiaoxia; Mitra, Robi D.; Cole, F. Sessions; Neidich, Julie; Dickson, Patricia I.; Milbrandt, Jeffrey; Turner, Tychele N.
Genome Medicine. 17(1)
Academic Journal
Garcia, Brandon T.; Westerfield, Lauren; Yelemali, Priya; Gogate, Nikhita; Rivera-Munoz, E. Andres; Du, Haowei; Dawood, Moez; Jolly, Angad; Lupski, James R.; Posey, Jennifer E.
Genome Medicine. 17(1)
Academic Journal
Haowei Du; Ming Yin Lun; Lidiia Gagarina; Jesse D. Bengtsson; Christopher M. Grochowski; Michele G. Mehaffey; James Paul Hwang; Shalini N. Jhangiani; Sravya V. Bhamidipati; Donna M. Muzny; M. Cecilia Poli; Sebastian Ochoa; Ivan K. Chinn; Anna Lindstrand; Jennifer E. Posey; Richard A. Gibbs; Pengfei Liu; James R. Lupski; Claudia M. B. Carvalho
Genome Medicine, Vol 18, Iss 1, Pp 1-15 (2025)
Academic Journal
Krishnavajhala, Aparna; Gingras, Marie-Claude; Urquieta, Emmanuel; Chao, Hsu; Bandaranaike, Dilrukshi; Chen, Yi; Bhamidipati, Sravya; Korchina, Viktoriya; Griffin, S. Michelle; Masternak, Michal M.; Moreno, Hannah; Mohammed, Javid; Murugan, Mullai; Posey, Jennifer E.; Wu, Jimmy H.; Muzny, Donna; Gibbs, Richard A.; Doddapaneni, Harsha
npj Microgravity. 11(1)
Academic Journal
Dharmadhikari, Avinash V.; Abad, Maria Alba; Khan, Sheraz; Maroofian, Reza; Sands, Tristan T.; Ullah, Farid; Samejima, Itaru; Shen, Yanwen; Wear, Martin A.; Moore, Kiara E.; Kondakova, Elena; Mitina, Natalia; Schaub, Theres; Lee, Grace K.; Umandap, Christine H.; Berger, Sara M.; Iglesias, Alejandro D.; Popp, Bernt; Abou Jamra, Rami; Gabriel, Heinz; Rentas, Stefan; Rippert, Alyssa L.; Gray, Christopher; Izumi, Kosuke; Conlin, Laura K.; Koboldt, Daniel C.; Mosher, Theresa Mihalic; Hickey, Scott E.; Albert, Dara V. F.; Norwood, Haley; Lewanda, Amy Feldman; Dai, Hongzheng; Liu, Pengfei; Mitani, Tadahiro; Marafi, Dana; Eker, Hatice Koçak; Pehlivan, Davut; Posey, Jennifer E.; Lippa, Natalie C.; Vena, Natalie; Heinzen, Erin L.; Goldstein, David B.; Mignot, Cyril; de Sainte Agathe, Jean-Madeleine; Al-Sannaa, Nouriya Abbas; Zamani, Mina; Sadeghian, Saeid; Azizimalamiri, Reza; Seifia, Tahere; Zaki, Maha S.; Abdel-Salam, Ghada M. H.; Abdel-Hamid, Mohamed S.; Alabdi, Lama; Alkuraya, Fowzan Sami; Dawoud, Heba; Lofty, Aya; Bauer, Peter; Zifarelli, Giovanni; Afzal, Erum; Zafar, Faisal; Efthymiou, Stephanie; Gossett, Daniel; Towne, Meghan C.; Yeneabat, Raey; Perez-Duenas, Belen; Cazurro-Gutierrez, Ana; Verdura, Edgard; Cantarin-Extremera, Veronica; Marques, Ana do Vale; Helwak, Aleksandra; Tollervey, David; Wontakal, Sandeep N.; Aggarwal, Vimla S.; Rosenfeld, Jill A.; Tarabykin, Victor; Ohta, Shinya; Lupski, James R.; Houlden, Henry; Earnshaw, William C.; Davis, Erica E.; Jeyaprakash, A. Arockia; Liao, Jun
Nature Communications. 16(1)
Academic Journal
Dardas, Zain; Harrold, Laura; Calame, Daniel G.; Salter, Claire G.; Kikuma, Takashi; Guay, Kevin P.; Ng, Bobby G.; Sano, Kanae; Saad, Ahmad K.; Du, Haowei; Sangermano, Riccardo; Patankar, Sohil G.; Jhangiani, Shalini N.; Gursoy, Semra; Abdel-Hamid, Mohamed S.; Ahmed, Mahmoud K.H.; Maroofian, Reza; Kaiyrzhanov, Rauan; Salayev, Kamran; Jones, Wendy D.; Caballero, Ana Perez; McGavin, Lucy; Spiller, Michael; Durkie, Miranda; Wood, Nick; O'Grady, Lauren; Goldenberg, Paula; Neumeyer, Ann M.; Begtrup, Amber; Abdel-Ghafar, Sherif F.; Zaki, Maha S.; Van Esch, Hilde; Posey, Jennifer E.; Wenger, Olivia K.; Scott, Ethan M.; Bujakowska, Kinga M.; Gibbs, Richard A.; Pehlivan, Davut; Marafi, Dana; Leslie, Joseph S.; Ubeyratna, Nishanka; Day, Jacob; Owens, Martina; Settle, Jessica; Balkhy, Soher; Tamim, Abdullah; Alabdi, Lama; Alkuraya, Fowzan S.; Takeda, Yoichi; Freeze, Hudson H.; Hebert, Daniel N.; Lupski, James R.; Crosby, Andrew H.; Baple, Emma L.
Am J Hum Genet
Academic Journal
Nikhita Gogate; Angad Jolly; Jill A. Rosenfeld; Paulina Bahena-Carbajal; Jonathan A. Bernstein; Devon Bonner; Tiffany Busa; Ingrid Cristian; Precilla D’Souza; Jennifer Friedman; Svetlana Gorokhova; Thomas Haaf; Isabella Herman; Ugur Ufuk Isin; Shalini N Jhangiani; Ivy Johnson; Jerica Lenberg; Ellen F. Macnamara; Reza Maroofian; Undiagnosed Diseases Network; Melissa Racobaldo; Olivia L Redlich; Cynthia Tifft; Tulay Tos; Barbara Vona; Regina M. Zambrano; Ingrid M. Wentzensen; Kristen Wigby; Davut Pehlivan; Richard A Gibbs; James R Lupski; Jennifer E Posey
medRxiv
Academic Journal
Furuta, Yutaka; Ezell, Kimberly M.; Hamid, Rizwan; Cogan, Joy D.; Cassini, Thomas A.; Rives, Lynette; Mcminn, Ashley; Shah, Shailee; Peltier, Amanda C.; Layfield, Stephen; Fletcher, Robin S.; Tedder, Matthew L.; Louie, Raymond J.; Lee, Jennifer A.; Kerkhof, Jennifer; Rzasa, Jessica; Sadikovic, Bekim; Mamun, Abdullah Al; Sheehan, Jonathan H.; Moth, Christopher W.; Meiler, Jens; Vawter‐Lee, Marissa; Mendoza‐Sengco, Paola Maria; Holzen, Jennifer B.; Pruthi, Sumit; Phillips, John A.; Tinker, Rory J.; Quinlan, Aaron; Elkadri, Abdul; Vanderver, Adeline; Rebelo, Adriana; Beggs, Alan H.; La Spada, Albert R.; Huang, Alden; Paul, Alex; Miller, Alexander; Al‐Beshri, Ali; Ward, Alistair; Bale, Allen; Mcconkie‐Rosell, Allyn; Tran, Alyssa A.; Gropman, Andrea; Vargas, Andres; Crouse, Andrew B.; Stergachis, Andrew; Hurst, Anna; Raper, Anna; Tarakad, Arjun; Andrews, Ashley; Balasubramanyam, Ashok; Swerdzewski, Barbara N. Pusey; Anguiano, Beatriz; Afzali, Ben; Solomon, Ben; Martin, Beth A.; Russell, Bianca E.; Wilk, Brandon M.; Mitchell, Breanna; Lanpher, Brendan C.; Lee, Brendan H.; Fogel, Brent L.; Bordini, Brett; Graham, Brett H.; Corner, Brian; Tucker, Brianna; Korf, Bruce; Macrae, Calum A.; Toro, Camilo; Skraban, Cara; Bacino, Carlos A.; Oladele, Carol; Hendry, Caroline; Smith, Carson A.; Esteves, Cecilia; Xiao, Changrui; Reuter, Chloe M.; Eng, Christine M.; Chan, Chun‐Hung; Wahl, Colleen E.; Welt, Corrine K.; Tifft, Cynthia J.; Kiley, Dana; Rader, Daniel J.; Wegner, Daniel; Miller, Danny; Scott, Daryl A.; Viskochil, Dave; Sweetser, David A.; Adams, David R.; Barbouth, Deborah; Rao, Deepak A.; Oglesbee, Devin; Bonner, Devon; Basel, Donald; Novacic, Donna; Baldridge, Dustin; Behrens, Edward; Silverman, Edwin K.; Seto, Elaine; Kravets, Elijah; Rosenthal, Elisabeth; Worthey, Elizabeth A.; Burke, Elizabeth A.; Blue, Elizabeth; Chao, Elizabeth C.; Fieg, Elizabeth L.; Macnamara, Ellen F.; Balton, Elsa; Glanton, Emily; Shelkowitz, Emily; Wang, Emily; Allenspach, Eric; Klee, Eric; Vilain, Eric; Conboy, Erin; Baldwin, Erin E.; Mcroy, Erin; Dell’Angelica, Esteban C.; Ashley, Euan A.; Cole, F. Sessions; Vairo, Filippo Pinto E.; High, Frances; Vetrini, Francesco; Rossignol, Francis; Bustos, Francisco; Hisama, Fuki M.; Marth, Gabor; Jarvik, Gail P.; Clark, Gary D.; Carvalho, George; Berry, Gerard T.; Mirzaa, Ghayda; Sirugo, Giorgio; Kilich, Gonench; Bademci, Guney; Mendez, Hector Rodrigo; Wood, Heidi; Taylor, Herman; Tabor, Holly K.; Dai, Hongzheng; Chao, Hsiao‐Tuan; Xu, Hua; Bellen, Hugo J.; Zhang, Hui; Glass, Ian; Lanza, Ian R.; Holm, Ingrid A.; Kohane, Isaac S.; Ward, Isum; Chinn, Ivan; Pallais, J. Carl; Sampson, Jacinda B.; Orengo, James P.; Verbsky, James; Sninsky, Jared; Hom, Jason; Schend, Jason; Kohler, Jennefer N.; Posey, Jennifer E.; Morgan, Jennifer; Schymick, Jennifer; Wambach, Jennifer; Douglas, Jessica; Fu, Jiayu; Rosenfeld, Jill A.; Shin, Jimann; Stoler, Joan M.; Gonzalez, Joanna M.; Carey, John; Gorzynski, John E.; Mulvihill, John J.; Davis, Joie; Bernstein, Jonathan A.; Whitlock, Jordan; Abdenur, Jose; Loscalzo, Joseph; Martínez‐Agosto, Julian A.; Mccarrier, Julie; Alvey, Justin; Darr, Kahlen; Callaway, Kaitlin; Leppig, Kathleen A.; Sullivan, Kathleen; Sisco, Kathy; Singh, Kathyrn; Dipple, Katrina; Treat, Kayla M.; Hassey, Kelly; Schoch, Kelly; Smith, Kevin S.; Liaqat, Khurram; Worley, Kim; Ezell, Kimberly; Leblanc, Kimberly; Latchman, Kumarie; Rodan, Lance H.; Keehan, Laura; Pace, Laura; Cobban, Laurel A.; Blieden, Lauren; Briere, Lauren C.; Jeffries, Lauren; Wiel, Laurens; Farraj, Layal F. Abi; Petcharet, Leoyklang; Peart, Léshon; Mantcheva, Lili; Solnica‐Krezel, Lilianna; Burrage, Lindsay C.; Mulvihill, Lindsay; Schimmenti, Lisa; Emrick, Lisa T.; Botto, Lorenzo; Potocki, Lorraine; Wolfe, Lynne A.; Steenari, Maija‐Rikka; Butte, Manish J.; Delgado, Margaret; Romero, María José Ortuño; Acosta, Maria T.; Morimoto, Marie; Nakano‐Okuno, Mariko; Gerstein, Mark; Wener, Mark; Sabaii, Marla; Horike‐Pyne, Martha; Martin, Martin G.; Rodriguez, Martin; Velinder, Matt; Coggins, Matthew; Might, Matthew; Wheeler, Matthew T.; Malicdan, Maychristine V.; Bell, Megan; Halley, Meghan C.; Walker, Melissa; Levanto, Mia; Bamshad, Michael; Wangler, Michael F.; Muriello, Michael; Zimmermann, Michael; Spencer‐Manzon, Michele; Leitheiser, Miranda; Mikati, Mohamad; Saifeddine, Mohamad; Hubshman, Monika Weisz; Lek, Monkol; Westerfield, Monte; Tekin, Mustafa; Derar, Nada; Dorrani, Naghmeh; Parker, Neil H.; Hanchard, Neil; Borja, Nicholas; Longo, Nicola; Walley, Nicole M.; Dargie, Nitsuh K.; Kaufman, Odelya; Kanca, Oguz; Jean‐Marie, Orpa; Goddard, Page C.; Moretti, Paolo; Ward, Patricia A.; Dickson, Patricia; Berger, Paul; Fisher, Paul G.; Liu, Pengfei; Byers, Peter; Bayrak‐Toydemir, Pinar; D’Souza, Precilla; Tan, Queenie; Ungar, Rachel A.; Li, Rachel; Mahoney, Rachel; Rajagopalan, Ramakrishnan; Alvarez, Raquel L.; Spillmann, Rebecca C.; Ganetzky, Rebecca; Overbury, Rebecca; Barrick, Rebekah; Lewis, Richard A.; Maas, Richard L.; Mao, Rong; Marom, Ronit; Corona, Rosario I.; Kumar, Runjun; Butterfield, Russell; Attaripour, Sanaz; Nagamani, Sandesh; Emami, Sara; Lalani, Seema R.; Neumann, Serena; Perlman, Seth; Ketkar, Shamika; Sunyaev, Shamil R.; Kobren, Shilpa N.; Yamamoto, Shinya; Mane, Shrikant; Marwaha, Shruti; Chanprasert, Sirisak; Nelson, Stanley F.; Zuchner, Stephan; Bivona, Stephanie; Ware, Stephanie M.; Montgomery, Stephen B.; Pak, Stephen; Boyden, Steven; Bachir, Suha; Dasari, Surendra; Korrick, Susan; Sandmeyer, Suzanne; Mozaffar, Tahseen; Skelton, Tammi; Jensen, Tanner D.; Mamidi, Tarun K.K.; Beagle, Taylor; Maurer, Taylor; Serrano, Teodoro Jerves; Coakley, Terra R.; Cassini, Thomas; Nicholas, Thomas J.; Schedl, Timothy; Vogel, Tiphanie P.; Jobanputra, Vaidehi; Maduro, Valerie V.; Shashi, Vandana; Vasiliou, Vasilis; Sybert, Virginia; Cuddapah, Vishnu; Introne, Wendy; Raskind, Wendy; Thorson, Willa; Gahl, William A.; Byrd, William E.; Craigen, William J.; Halstead, Winston; Huang, Yan; Karasozen, Yigit; Jiang, Yong‐Hui
Molecular Genetics & Genomic Medicine. December 17, 2025, Vol. 13 Issue 12
Academic Journal
Kubisch, Christian; Cogne, Benjamin; Rabin, Rachel; Kessler, Elena; Chappé, Céline; Brugger, Melanie; Jorge, Alexander A.L.; Short, John; Posey, Jennifer E.; Szakszon, Katalin; Bedeschi, Maria Francesca; Yuan, Bo; Brunet, Theresa; Chong, Hey J.; Poths, Karin; Josifova, Dragana; Maeding, Nicole; Sidlow, Richard; Nevay, Dayna-Lynn; Mehta, Lakshmi; Gangi, Silvana; Pappas, John; Cope, Heidi; Schrauwen, Isabelle; Hüning, Irina; Banka, Siddharth; Powell-Hamilton, Nina; Lyon, Gholson J.; Wieczorek, Dagmar; Leal, Suzanne M.; Courtin, Thomas; Fernandes, Erica; Harasink, Sue Moyer; Kamsteeg, Erik-Jan; Afenjar, Alexandra; Tan, Queenie K.G.; Marchi, Elaine; Brick, Lauren; Cardenas, Paul; Deb, Wallid; Wagner, Matias; Sullivan, Jennifer; Begtrup, Amber; Platzer, Konrad; Lessel, Davor; Oegema, Renske; Mancardi, Margherita; Kölbel, Heike; Haack, Tobias B.; Kuechler, Alma; Capra, Valeria; Fitzgerald, Kristi K.; Baresic, Anja; Chinn, Ivan K.; Rezende, Raissa C.; Odent, Sylvie; Kozenko, Mariya; Morel, Chantal F.; Network, Undiagnosed Diseases; Tolosa, Eva; Dubourg, Christèle; Sebastian, Jessica; Keren, Boris; Robert, Leema; Goenka, Anu; Lessel, Ivana; Jin, Jay J.; Gucsavas-Calikoglu, Muge; Chandler, Kate E.; Scala, Marcello; Rekab, Aisha; Madan-Khetarpal, Suneeta; Perilla-Young, Yezmin; Leppälä, Juha; de la Calle-Martín, Oscar; Conboy, Erin; Isidor, Bertrand; George-Abraham, Jaya K.; Järvelä, Irma; May, Jonathan; Dilena, Robertino; Averdunk, Luisa; Luu, Sharon M.; Hanker, Britta; Pastore, Matthew T.; Strunk, Dirk; Nigro, Vincenzo; Elgizouli, Magdeldin; Iascone, Maria; Menendez, Beatriz; Kalinauskiene, Ruta; Besnard, Thomas; Byrne, Susan; Romano, Ferruccio; Lupski, James R.; Brager, Rae; Hadonou, Medard
Am J Hum Genet
American Journal of Human Genetics, 112, 2, pp. 394-413
Undiagnosed Diseases Network, Lessel, I, Baresic, A, Chinn, I K, May, J, Goenka, A, Chandler, K E,Posey , J E, Afenjar, A, Averdunk, L, Bedeschi, M F, Besnard, T, Brager, R, Brick, L, Brugger, M, Brunet, T, Byrne, S, Calle-Martín, O D L, Capra, V, Cardenas, P, Chappé, C, Chong, H J, Cogne, B, Conboy, E, Cope, H, Courtin, T, Deb, W, Dilena, R, Dubourg, C, Elgizouli, M, Fernandes, E, Fitzgerald, K K, Gangi, S, George-Abraham, J K, Gucsavas-Calikoglu, M, Haack, T B, Hadonou, M, Hanker, B, Hüning, I, Iascone, M, Isidor, B, Järvelä, I, Jin, J J, Jorge, A A L, Josifova, D, Kalinauskiene, R, Kamsteeg, E-J, Keren, B, Kessler, E, Kölbel, H & Banka, S 2025, 'DNA-binding affinity and specificity determine the phenotypic diversity in BCL11B-related disorders', American Journal of Human Genetics, vol. 112, no. 2, pp. 394-413. https://doi.org/10.1016/j.ajhg.2024.12.012
The American Journal of Human Genetics
American Journal of Human Genetics, 112, 2, pp. 394-413
Undiagnosed Diseases Network, Lessel, I, Baresic, A, Chinn, I K, May, J, Goenka, A, Chandler, K E,
The American Journal of Human Genetics
Academic Journal
Jay, Kristy L.; Gogate, Nikhita; Hall, Paige I.; Ezell, Kimberly M.; Andrews, Jonathan C.; Jangam, Sharayu V.; Pan, Hongling; Pham, Kelvin; German, Ryan; Gomez, Vanessa; Jellinek-Russo, Emily; Storch, Eric A.; Yamamoto, Shinya; Kanca, Oguz; Bellen, Hugo J.; Dierick, Herman A.; Cogan, Joy D.; Phillips, John A.; Hamid, Rizwan; Cassini, Thomas; Rives, Lynette; Pruthi, Sumit; Chen, Hua-Chang; Posey, Jennifer E.; Wangler, Michael F.
Human Genetics and Genomics Advances. 7(1)
Academic Journal
Tran, Alyssa A.; Tarakad, Arjun; Balasubramanyam, Ashok; Lee, Brendan H.; Bacino, Carlos A.; Scott, Daryl A.; Seto, Elaine; Clark, Gary D.; Dai, Hongzheng; Chao, Hsiao-Tuan; Chinn, Ivan; Orengo, James P.; Posey, Jennifer E.; Rosenfeld, Jill A.; Worley, Kim; Burrage, Lindsay C.; Emrick, Lisa T.; Potocki, Lorraine; Hubshman, Monika Weisz; Lewis, Richard A.; Marom, Ronit; Lalani, Seema R.; Ketkar, Shamika; Vogel, Tiphanie P.; Craigen, William J.; Sninsky, Jared; Blieden, Lauren; Nagamani, Sandesh; Bellen, Hugo J.; Wangler, Michael F.; Kanca, Oguz; Yamamoto, Shinya; Eng, Christine M.; Ward, Patricia A.; Liu, Pengfei; Vanderver, Adeline; Skraban, Cara; Behrens, Edward; Kilich, Gonench; Sullivan, Kathleen; Hassey, Kelly; Rajagopalan, Ramakrishnan; Ganetzky, Rebecca; Cuddapah, Vishnu; Raper, Anna; Rader, Daniel J.; Sirugo, Giorgio; Jobanputra, Vaidehi; McConkie-Rosell, Allyn; Schoch, Kelly; Mikati, Mohamad; Walley, Nicole M.; Spillmann, Rebecca C.; Shashi, Vandana; Beggs, Alan H.; MacRae, Calum A.; Sweetser, David A.; Rao, Deepak A.; Silverman, Edwin K.; Fieg, Elizabeth L.; High, Frances; Berry, Gerard T.; Holm, Ingrid A.; Pallais, J. Carl; Stoler, Joan M.; Loscalzo, Joseph; Rodan, Lance H.; Cobban, Laurel A.; Briere, Lauren C.; Coggins, Matthew; Walker, Melissa; Maas, Richard L.; Korrick, Susan; Douglas, Jessica; Esteves, Cecilia; Glanton, Emily; Kohane, Isaac S.; LeBlanc, Kimberly; Mahoney, Rachel; Sunyaev, Shamil R.; Kobren, Shilpa N.; Graham, Brett H.; Conboy, Erin; Vetrini, Francesco; Treat, Kayla M.; Liaqat, Khurram; Mantcheva, Lili; Ware, Stephanie M.; Mitchell, Breanna; Lanpher, Brendan C.; Oglesbee, Devin; Klee, Eric; Pinto e Vairo, Filippo; Lanza, Ian R.; Darr, Kahlen; Mulvihill, Lindsay; Schimmenti, Lisa; Tan, Queenie; Dasari, Surendra; Elkadri, Abdul; Bordini, Brett; Basel, Donald; Verbsky, James; McCarrier, Julie; Muriello, Michael; Zimmermann, Michael; Rebelo, Adriana; Smith, Carson A.; Barbouth, Deborah; Bademci, Guney; Gonzalez, Joanna M.; Latchman, Kumarie; Peart, LéShon; Tekin, Mustafa; Borja, Nicholas; Zuchner, Stephan; Bivona, Stephanie; Thorson, Willa; Taylor, Herman; Quarells, Rakale C.; Iverson, Ayuko; Gelb, Bruce; Cunningham-Rundles, Charlotte; Gayle, Eric; Jen, Joanna; Bier, Louise; Barbosa, Mafalda; Balwani, Manisha; Shadrina, Mariya; Evard, Rachel; Shuman, Saskia; Shin, Susan; Gropman, Andrea; Pusey Swerdzewski, Barbara N.; Toro, Camilo; Wahl, Colleen E.; Novacic, Donna; Macnamara, Ellen F.; Mulvihill, John J.; Acosta, Maria T.; D'Souza, Precilla; Maduro, Valerie V.; Afzali, Ben; Solomon, Ben; Tifft, Cynthia J.; Adams, David R.; Burke, Elizabeth A.; Rossignol, Francis; Wood, Heidi; Fu, Jiayu; Davis, Joie; Petcharet, Leoyklang; Wolfe, Lynne A.; Delgado, Margaret; Morimoto, Marie; Sabaii, Marla; Malicdan, MayChristine V.; Hanchard, Neil; Jean-Marie, Orpa; Introne, Wendy; Gahl, William A.; Huang, Yan; Stergachis, Andrew; Miller, Danny; Rosenthal, Elisabeth; Blue, Elizabeth; Balton, Elsa; Shelkowitz, Emily; Allenspach, Eric; Hisama, Fuki M.; Jarvik, Gail P.; Mirzaa, Ghayda; Glass, Ian; Leppig, Kathleen A.; Dipple, Katrina; Wener, Mark; Horike-Pyne, Martha; Bamshad, Michael; Byers, Peter; Kumar, Runjun; Perlman, Seth; Chanprasert, Sirisak; Sybert, Virginia; Raskind, Wendy; Dargie, Nitsuh K.; Chan, Chun-Hung; Bustos Velasq, Dr. Francisco; Ward, Isum; Schend, Jason; Morgan, Jennifer; Bell, Megan; Leitheiser, Miranda; Saifeddine, Mohamad; Berger, Paul; Li, Rachel; Beagle, Taylor; Miller, Alexander; Anguiano, Beatriz; Martin, Beth A.; Tucker, Brianna; Reuter, Chloe M.; Bonner, Devon; Kravets, Elijah; Mendez, Hector Rodrigo; Tabor, Holly K.; Sampson, Jacinda B.; Hom, Jason; Kohler, Jennefer N.; Schymick, Jennifer; Gorzynski, John E.; Bernstein, Jonathan A.; Smith, Kevin S.; Keehan, Laura; Wiel, Laurens; Wheeler, Matthew T.; Halley, Meghan C.; Levanto, Mia; Goddard, Page C.; Fisher, Paul G.; Ungar, Rachel A.; Alvarez, Raquel L.; Emami, Sara; Marwaha, Shruti; Montgomery, Stephen B.; Bachir, Suha; Jensen, Tanner D.; Maurer, Taylor; Coakley, Terra R.; Ashley, Euan A.; Al-Beshri, Ali; Hurst, Anna; Wilk, Brandon M.; Korf, Bruce; Worthey, Elizabeth A.; Callaway, Kaitlin; Rodriguez, Martin; Skelton, Tammi; Mamidi, Tarun KK.; Crouse, Andrew B.; Whitlock, Jordan; Nakano-Okuno, Mariko; Might, Matthew; Byrd, William E.; La Spada, Albert R.; Xiao, Changrui; Chao, Elizabeth C.; Vilain, Eric; Abdenur, Jose; Blanco, Kirsten; Steenari, Maija-Rikka; Barrick, Rebekah; Chang, Richard; Attaripour, Sanaz; Sandmeyer, Suzanne; Mozaffar, Tahseen; Huang, Alden; Vargas, Andres; Russell, Bianca E.; Fogel, Brent L.; Dell'Angelica, Esteban C.; Carvalho, George; Martínez-Agosto, Julian A.; Abi Farraj, Layal F.; Butte, Manish J.; Martin, Martin G.; Dorrani, Naghmeh; Parker, Neil H.; Corona, Rosario I.; Nelson, Stanley F.; Karasozen, Yigit; Quinlan, Aaron; Ward, Alistair; Andrews, Ashley; Welt, Corrine K.; Viskochil, Dave; Baldwin, Erin E.; Carey, John; Alvey, Justin; Pace, Laura; Botto, Lorenzo; Longo, Nicola; Moretti, Paolo; Overbury, Rebecca; Butterfield, Russell; Boyden, Steven; Nicholas, Thomas J.; Velinder, Matt; Marth, Gabor; Bayrak-Toydemir, Pinar; Mao, Rong; Westerfield, Monte; Corner, Brian; Phillips, John A., III; Ezell, Kimberly; Rives, Lynette; Hamid, Rizwan; Neumann, Serena; McMinn, Ashley; Cogan, Joy D.; Cassini, Thomas; Paul, Alex; Kiley, Dana; Wegner, Daniel; McRoy, Erin; Wambach, Jennifer; Sisco, Kathy; Dickson, Patricia; Cole, F. Sessions; Baldridge, Dustin; Shin, Jimann; Solnica-Krezel, Lilianna; Pak, Stephen C.; Schedl, Timothy; Bale, Allen; Oladele, Carol; Hendry, Caroline; Wang, Emily; Xu, Hua; Zhang, Hui; Jeffries, Lauren; Ortuño Romero, María José; Gerstein, Mark; Spencer-Manzon, Michele; Lek, Monkol; Derar, Nada; Kaufman, Odelya; Mane, Shrikant; Serrano, Teodoro Jerves; Vasiliou, Vasilis; Halstead, Winston; Jiang, Yong-Hui; Keehan, Laura A. ; Ono-Minagi, Hitomi ; Hadhud, Mohamad ; Rips, Jonathan ; Hinds, Daniel M. ; Fischer, Anthony J. ; Bartlett, Jennifer A. ; McCray, Paul B. ; Qawasmi, Nada ; Nathan, Nadia ; Louvrier, Camille ; Desroziers, Tifenn ; Damme, Markus ; Griese, Matthias ; Wegner, Daniel J. ; Wambach, Jennifer A. ; Burbelo, Peter D. ; Bonner, Devon E. ; Chiorini, John A. ; Breuer, Oded ; Milla, Carlos
In Genetics in Medicine January 2026
Academic Journal
Dardas, Zain; Marafi, Dana; Duan, Ruizhi; Fatih, Jawid M.; El-Rashidy, Omnia F.; Grochowski, Christopher M.; Carvalho, Claudia M. B.; Jhangiani, Shalini N.; Bi, Weimin; Du, Haowei; Gibbs, Richard A.; Posey, Jennifer E.; Calame, Daniel G.; Zaki, Maha S.; Lupski, James R.
European Journal of Human Genetics. 33(2):231-238
Academic Journal
Academic Journal
Behavior Analysis in Practice. 18(1):127-136
Academic Journal
Levine, Jesse M. ; Calame, Daniel G. ; Sangermano, Riccardo ; Du, Haowei ; Saad, Ahmed ; Lisfeld, Jasmin ; Bierhals, Tatjana ; Denecke, Jonas ; Uctepe, Eyyup ; Celik, Merve Yoldas ; Yesilyurt, Ahmet ; Yildiz Er, Hilal ; Yilmaz Gulec, Elif ; Mushiba, Aziza ; Almontashiri, Naif ; Gawlinski, Pawel ; Wiszniewski, Wojciech ; Karaca, Ender ; Alabdi, Lama ; Pehlivan, Davut ; Marafi, Dana ; Zaki, Maha S. ; Alkuraya, Fowzan S. ; Gleeson, Joseph G. ; Jhangiani, Shalini N. ; Gibbs, Richard A. ; Posey, Jennifer E. ; Bujakowska, Kinga M. ; Lupski, James R.
In The American Journal of Human Genetics 5 February 2026 113(2):362-379
Academic Journal
Lun, Ming Yin; Posey, Jennifer E.; Bengtsson, Jesse D.; Du, Haowei; Roy, Rituparna Sinha; Yang, Lei; Ochoa, Sebastian; Yuan, Bo; Gillentine, Maddie; Lindstrand, Anna; Carvalho, Claudia M. B.
medRxiv
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