학술논문
'학술논문'
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1~10
Academic Journal
Perreault, Mylène; Means, Jillian; Gerson, Erik; James, Michael; Cotton, Sean; Bergeron, Christopher G.; Simon, Mark; Carlin, Dylan Alexander; Schmidt, Nathan; Moore, Theodore C.; Blasbalg, Julie; Sondheimer, Neal; Ndugga-Kabuye, Kenneth; Denney, William S.; Isabella, Vincent M.; Lubkowicz, David; Brennan, Aoife; Hava, David L.
In Cell Host & Microbe 13 March 2024 32(3):382-395
Academic Journal
Brunet, Theresa; Zott, Benedikt; Lieftüchter, Victoria; Lenz, Dominic; Schmidt, Axel; Peters, Philipp; Kopajtich, Robert; Zaddach, Malin; Zimmermann, Hanna; Hüning, Irina; Ballhausen, Diana; Staufner, Christian; Bianzano, Alyssa; Hughes, Joanne; Taylor, Robert W.; McFarland, Robert; Devlin, Anita; Mihaljević, Mihaela; Barišić, Nina; Rohlfs, Meino; Wilfling, Sibylle; Sondheimer, Neal; Hewson, Stacy; Marinakis, Nikolaos M.; Kosma, Konstantina; Traeger-Synodinos, Joanne; Elbracht, Miriam; Begemann, Matthias; Trepels-Kottek, Sonja; Hasan, Dimah; Scala, Marcello; Capra, Valeria; Zara, Federico; van der Ven, Amelie T.; Driemeyer, Joenna; Apitz, Christian; Krämer, Johannes; Strong, Alanna; Hakonarson, Hakon; Watson, Deborah; Mayr, Johannes A.; Prokisch, Holger; Meitinger, Thomas; Borggraefe, Ingo; Spiegler, Juliane; Baric, Ivo; Paolini, Marco; Gerstl, Lucia; Wagner, Matias
In Genetics in Medicine February 2024 26(2)
Academic Journal
Acosta, Maria T.; Adam, Margaret; Adams, David R.; Alvarez, Raquel L.; Alvey, Justin; Amendola, Laura; Andrews, Ashley; Ashley, Euan A.; Bacino, Carlos A.; Bademci, Guney; Balasubramanyam, Ashok; Baldridge, Dustin; Bale, Jim; Bamshad, Michael; Barbouth, Deborah; Bayrak-Toydemir, Pinar; Beck, Anita; Beggs, Alan H.; Behrens, Edward; Bejerano, Gill; Bellen, Hugo J.; Bennett, Jimmy; Berg-Rood, Beverly; Bernstein, Jonathan A.; Berry, Gerard T.; Bican, Anna; Bivona, Stephanie; Blue, Elizabeth; Bohnsack, John; Bonner, Devon; Botto, Lorenzo; Boyd, Brenna; Briere, Lauren C.; Brown, Gabrielle; Burke, Elizabeth A.; Burrage, Lindsay C.; Butte, Manish J.; Byers, Peter; Byrd, William E.; Carey, John; Carrasquillo, Olveen; Cassini, Thomas; Peter Chang, Ta Chen; Chanprasert, Sirisak; Chao, Hsiao-Tuan; Chinn, Ivan; Clark, Gary D.; Coakley, Terra R.; Cobban, Laurel A.; Cogan, Joy D.; Coggins, Matthew; Cole, F. Sessions; Colley, Heather A.; Cope, Heidi; Corona, Rosario; Craigen, William J.; Crouse, Andrew B.; Cunningham, Michael; D’Souza, Precilla; Dai, Hongzheng; Dasari, Surendra; Davis, Joie; Dayal, Jyoti G.; Dell'Angelica, Esteban C.; Dickson, Patricia; Dipple, Katrina; Doherty, Daniel; Dorrani, Naghmeh; Doss, Argenia L.; Douine, Emilie D.; Earl, Dawn; Eckstein, David J.; Emrick, Lisa T.; Eng, Christine M.; Falk, Marni; Fieg, Elizabeth L.; Fisher, Paul G.; Fogel, Brent L.; Forghani, Irman; Gahl, William A.; Glass, Ian; Gochuico, Bernadette; Goddard, Page C.; Godfrey, Rena A.; Golden-Grant, Katie; Grajewski, Alana; Hadley, Don; Hahn, Sihoun; Halley, Meghan C.; Hamid, Rizwan; Hassey, Kelly; Hayes, Nichole; High, Frances; Hing, Anne; Hisama, Fuki M.; Holm, Ingrid A.; Hom, Jason; Horike-Pyne, Martha; Huang, Alden; Hutchison, Sarah; Introne, Wendy; Isasi, Rosario; Izumi, Kosuke; Jamal, Fariha; Jarvik, Gail P.; Jarvik, Jeffrey; Jayadev, Suman; Jean-Marie, Orpa; Jobanputra, Vaidehi; Karaviti, Lefkothea; Ketkar, Shamika; Kiley, Dana; Kilich, Gonench; Kobren, Shilpa N.; Kohane, Isaac S.; Kohler, Jennefer N.; Korrick, Susan; Kozuira, Mary; Krakow, Deborah; Krasnewich, Donna M.; Kravets, Elijah; Lalani, Seema R.; Lam, Byron; Lam, Christina; Lanpher, Brendan C.; Lanza, Ian R.; LeBlanc, Kimberly; Lee, Brendan H.; Levitt, Roy; Lewis, Richard A.; Liu, Pengfei; Liu, Xue Zhong; Longo, Nicola; Loo, Sandra K.; Loscalzo, Joseph; Maas, Richard L.; Macnamara, Ellen F.; MacRae, Calum A.; Maduro, Valerie V.; Maghiro, Audrey Stephannie; Mahoney, Rachel; Malicdan, May Christine V.; Mamounas, Laura A.; Manolio, Teri A.; Mao, Rong; Maravilla, Kenneth; Marom, Ronit; Marth, Gabor; Martin, Beth A.; Martin, Martin G.; Martínez-Agosto, Julian A.; Marwaha, Shruti; McCauley, Jacob; McConkie-Rosell, Allyn; McCray, Alexa T.; McGee, Elisabeth; Mefford, Heather; Merritt, J. Lawrence; Might, Matthew; Mirzaa, Ghayda; Morava, Eva; Moretti, Paolo; Mulvihill, John; Nakano-Okuno, Mariko; Nelson, Stanley F.; Newman, John H.; Nicholas, Sarah K.; Nickerson, Deborah; Nieves-Rodriguez, Shirley; Novacic, Donna; Oglesbee, Devin; Orengo, James P.; Pace, Laura; Pak, Stephen; Pallais, J. Carl; Palmer, Christina G.S.; Papp, Jeanette C.; Parker, Neil H.; Phillips, John A., III; Posey, Jennifer E.; Potocki, Lorraine; Pusey Swerdzewski, Barbara N.; Quinlan, Aaron; Rao, Deepak A.; Raper, Anna; Raskind, Wendy; Renteria, Genecee; Reuter, Chloe M.; Rives, Lynette; Robertson, Amy K.; Rodan, Lance H.; Rosenfeld, Jill A.; Rosenwasser, Natalie; Rossignol, Francis; Ruzhnikov, Maura; Sacco, Ralph; Sampson, Jacinda B.; Saporta, Mario; Schaechter, Judy; Schedl, Timothy; Schoch, Kelly; Scott, Daryl A.; Scott, C. Ron; Seto, Elaine; Shashi, Vandana; Shin, Jimann; Silverman, Edwin K.; Sinsheimer, Janet S.; Sisco, Kathy; Smith, Edward C.; Smith, Kevin S.; Solnica-Krezel, Lilianna; Solomon, Ben; Spillmann, Rebecca C.; Stoler, Joan M.; Sullivan, Kathleen; Sullivan, Jennifer A.; Sun, Angela; Sutton, Shirley; Sweetser, David A.; Sybert, Virginia; Tabor, Holly K.; Tan, Queenie K.-G.; Tan, Amelia L.M.; Tarakad, Arjun; Tekin, Mustafa; Telischi, Fred; Thorson, Willa; Tifft, Cynthia J.; Toro, Camilo; Tran, Alyssa A.; Ungar, Rachel A.; Urv, Tiina K.; Vanderver, Adeline; Velinder, Matt; Viskochil, Dave; Vogel, Tiphanie P.; Wahl, Colleen E.; Walker, Melissa; Wallace, Stephanie; Walley, Nicole M.; Wambach, Jennifer; Wan, Jijun; Wang, Lee-kai; Wangler, Michael F.; Ward, Patricia A.; Wegner, Daniel; Hubshman, Monika Weisz; Wener, Mark; Wenger, Tara; Westerfield, Monte; Wheeler, Matthew T.; Whitlock, Jordan; Wolfe, Lynne A.; Worley, Kim; Xiao, Changrui; Yamamoto, Shinya; Yang, John; Zhang, Zhe; Zuchner, Stephan; Ganetzky, Rebecca; Kranz, Peter G.; Sondheimer, Neal; Markert, M. Louise; Sadeghpour, Azita; Roehrs, Philip; Arbogast, Thomas; Muraresku, Colleen; Tyndall, Amanda V.; Esser, Michael J.; Woodward, Kristine E.; Ping-Yee Au, Billie; Parboosingh, Jillian S.; Lamont, Ryan E.; Bernier, Francois P.; Wright, Nicola A.M.; Benseler, Susa M.; Parsons, Simon J.; El-Dairi, Mays; Valdez, Purnima; Tennison, Michael; Innes, A. Micheil; Davis, Erica E.
In Genetics in Medicine September 2023 25(9)
Book
In Thompson & Thompson Genetics and Genomics in Medicine Edition: Ninth Edition. 2024:109-133
Academic Journal
Crawford, Nicholas ; Prendergast, D'Arcy ; Oehlert, John W.; Shaw, Gary M.; Stevenson, David K.; Rappaport, Nadav; Sirota, Marina; Tishkoff, Sarah A.; Sondheimer, Neal
In The Journal of Pediatrics March 2018 194:40-46
Academic Journal
Sondheimer, Neal; Lubkowicz, David; Blasbalg, Julie; Means, Jillian; McDonald, Mary; James, Michael; Perrault, Mylene; Kurtz, Caroline; Hava, David
In Molecular Genetics and Metabolism March 2023 138(3)
Abecasis, Gonçalo R.; Applegate, Carolyn Dinsmore; Arbour, Laura; Beck, Christine R.; Cohn, Iris; Cohn, Ronald Doron; Costain, Gregory; Cytrynbaum, Cheryl; Deng, Wei Q.; Goodman, Sarah; Hamosh, Ada; Sutland, Dr. Frank V.; Jelin, Angie Child; Klein, Ophir; Knoppers, Bartha Maria; Lee, Charles; Marshall, Christian R.; Maass, Philipp G.; Popejoy, Alice B.; Scherer, Stephen W.; Sondheimer, Neal; Stavropoulos, Dimitri J.; Sun, Lei; Van den Veyver, Ignatia B.; Vento, Jodie Marie; Walsh, Michael F.; Weksberg, Rosanna; Willer, Cristen J.; Wynshaw-Boris, Anthony; Yilmaz, Feyza; Yuen, Ryan; Zawati, Ma'n H.
In Thompson & Thompson Genetics and Genomics in Medicine Edition: Ninth Edition. 2024:v-vii
Book
In The Hospital for Sick Children Handbook of Pediatrics Edition: Twelfth Edition. 2022:668-690
Academic Journal
Trost, Brett; Thiruvahindrapuram, Bhooma; Chan, Ada; Engchuan, Worrawat; Higginbotham, Edward; Howe, Jennifer; Loureiro, Livia; Reuter, Miriam; Roshandel, Delnaz; Whitney, Joe; Zarrei, Mehdi; Bookman, Matthew; Somerville, Cherith; Shaath, Rulan; Abdi, Mona; Aliyev, Elbay; Patel, Rohan; Nalpathamkalam, Thomas; Pellecchia, Giovanna; Hamdan, Omar; Kaur, Gaganjot; Wang, Zhuozhi; MacDonald, Jeffrey; Wei, John; Sung, Wilson; Lamoureux, Sylvia; Hoang, Ny; Selvanayagam, Thanuja; Deflaux, Nicole; Geng, Melissa; Ghaffari, Siavash; Bates, John; Young, Edwin; Ding, Qiliang; Shum, Carole; DAbate, Lia; Bradley, Clarrisa; Rutherford, Annabel; Aguda, Vernie; Apresto, Beverly; Chen, Nan; Desai, Sachin; Du, Xiaoyan; Fong, Matthew; Pullenayegum, Sanjeev; Samler, Kozue; Wang, Ting; Ho, Karen; Paton, Tara; Pereira, Sergio; Herbrick, Jo-Anne; Wintle, Richard; Fuerth, Jonathan; Noppornpitak, Juti; Ward, Heather; Magee, Patrick; Al Baz, Ayman; Kajendirarajah, Usanthan; Kapadia, Sharvari; Vlasblom, Jim; Valluri, Monica; Green, Joseph; Seifer, Vicki; Quirbach, Morgan; Rennie, Olivia; Kelley, Elizabeth; Masjedi, Nina; Lord, Catherine; Szego, Michael; Zawati, Man; Lang, Michael; Strug, Lisa; Marshall, Christian; Costain, Gregory; Calli, Kristina; Iaboni, Alana; Yusuf, Afiqah; Ambrozewicz, Patricia; Gallagher, Louise; Amaral, David; Brian, Jessica; Elsabbagh, Mayada; Georgiades, Stelios; Messinger, Daniel; Sebat, Jonathan; Sjaarda, Calvin; Smith, Isabel; Szatmari, Peter; Zwaigenbaum, Lonnie; Kushki, Azadeh; Frazier, Thomas; Vorstman, Jacob; Fakhro, Khalid; Fernandez, Bridget; Lewis, M; Weksberg, Rosanna; Fiume, Marc; Yuen, Ryan; Anagnostou, Evdokia; Sondheimer, Neal
Cell. 185(23)
Academic Journal
Fehlings, Darcy L.; Zarrei, Mehdi; Engchuan, Worrawat; Sondheimer, Neal; Thiruvahindrapuram, Bhooma; MacDonald, Jeffrey R.; Higginbotham, Edward J.; Thapa, Ritesh; Behlim, Tarannum; Aimola, Sabrina; Switzer, Lauren; Ng, Pamela; Wei, John; Danthi, Prakroothi S.; Pellecchia, Giovanna; Lamoureux, Sylvia; Ho, Karen; Pereira, Sergio L.; de Rijke, Jill; Sung, Wilson W. L.; Mowjoodi, Alireza; Howe, Jennifer L.; Nalpathamkalam, Thomas; Manshaei, Roozbeh; Ghaffari, Siavash; Whitney, Joseph; Patel, Rohan V.; Hamdan, Omar; Shaath, Rulan; Trost, Brett; Knights, Shannon; Samdup, Dawa; McCormick, Anna; Hunt, Carolyn; Kirton, Adam; Kawamura, Anne; Mesterman, Ronit; Gorter, Jan Willem; Dlamini, Nomazulu; Merico, Daniele; Hilali, Murto; Hirschfeld, Kyle; Grover, Kritika; Bautista, Nelson X.; Han, Kara; Marshall, Christian R.; Yuen, Ryan K. C.; Subbarao, Padmaja; Azad, Meghan B.; Turvey, Stuart E.; Mandhane, Piush; Moraes, Theo J.; Simons, Elinor; Maxwell, George; Shevell, Michael; Costain, Gregory; Michaud, Jacques L.; Hamdan, Fadi F.; Gauthier, Julie; Uguen, Kevin; Stavropoulos, Dimitri J.; Wintle, Richard F.; Oskoui, Maryam; Scherer, Stephen W.
Nature Genetics. 56(4):585-594
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