학술논문
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'학술논문'
에서 검색결과 347건 | 목록
1~20
Academic Journal
Adelson, Sophia; Agolini, Emanuele; Al-Maraghi, Aljazi; Alex, Karla; Alkuraya, Fowzan; Akil, Ammira Alshabeeb; Alshehri, Munira; Ansel, Derek; Armstrong, Niki; Aujla, Matthew; Bailey, Don; Baker, Mei; Balciuniene, Jorune; Barry, Andrew; Bennetts, Bruce; Berenger, Melissa; Berg, Jonathan; Bernstein, Donna; Bhatatcharjee, Arindam; Bhatt, Sucheta; Bick, David; Bishop, Tracey; Bitton, Asaf; Boemer, François; Bonhomme, Natasha; Bowley, George; Boyd, Brenna; Brennenstuhl, Heiko; Brenner, Steven; Bresnahan, Mairead; Brewster, Thomas; Brooks, P.J.; Broomberg, Katya; Brower, Amy; Gentile, Mattia; Giordano, Jessica; Jensen, Ulrich Glumer; Godler, David; Gold, Nina; Goldenberg, Aaron; GoldenGrant, Katie; Goldman, Cassie; González de Aledo-Castillo, José Manuel; Gottlieb, Daniel; Green, Robert; Greene, Christopher; Greenstein, Brooke; Grosse, Scott; Grueters, Annette; Gumus, Gulcin; Hagman, Kelly; Hall, Kevin; Harmant, Aymeric; Hartmanis, Sally; Hayeems, Robin; Heald, Rose; Hegde, Madhuri; Heiner-Fokkema, Rebecca; Henneman, Lidewij; Hernan, Becca; Hobbs, Charlotte; Holm, Ingrid; Horwitz, Layla; Hu, Zhanzhi; Iascone, Maria; Irvine, Ken; Jin, Guanjun; Kalbfleisch, Kelsey; Nyegaard, Mette; O'Sullivan, Justin; Ojodu, Jelili; Orsini, Paola; Oza, Andrea; Paleologos, Katrina; Parad, Richard; Peay, Holly; Pelo, Matthew; Philstrom, Carolyn; Pichard, Dominique; Pichini, Amanda; Pirreca, Michelle; Ponikowska, Malgorzata; Ponte, Amy; Posch, Andreas; Powell, Cynthia; Protopsaltis, Liana; Quevedo, Yeyson; Raia, Marianna; Reimer, Rebecca; Rohrwasser, Andy; Rollier, Paul; Rottensten, Lene; Rtskhiladze, Irakli; Sachedina, Nabihah; Sahyoun, George; Satija, Aditi; Schaaf, Christian; Schleit, Jennifer; Scott, Richard; Scully, Lauren; Seeloff, Stacey; Brown, Gemma; Buchanan, James; Bupp, Caleb; Cameron, Candance; Capacchione, Lauren; Carli, Diana; Ceballo, Onassis Castillo; Chan, Kee; Chance, Jillian; Charalambidou, Georgia; Chen, Winnie; Chen, Yun-Ru; Chung, Wendy; Chung, Brian; Clarke, Megan; Clasper, Susan; Cole, F. Sessions; Cope, Heidi; Coury, Stephanie; Cox, Tony; Dangouloff, Tamara; Paul Daniel, Earnest James; Danielsen, Katrin Eivindardottir; Davoine, Emeline; Defay, Tom; Gandhi, Geethanjali Devadoss; Dewulf, Joseph; Diller, Lisa; Dixit, Pakhi; Dolle, Martijn; Downie, Lilian; Drake, Erin; Drury, Suzanne; Duintjer, Annelotte; Duz, Bugrahan; Eckstein, David; Ellinwood, Matthew; Kander, Ines; Kaplun, Lucy; Kasperaviciute, Dalia; Kassahn, Karin; Kauko, Leni; Kaukonen, Riina; Kelly, Nicole; Khangsar, Dhayo; King, Jovanka; Kingsley, Clare; Kingsmore, Stephen; Kirms, Brian; Klein, Rachel; Koelker, Stefan; Kousa, Youssef; Krupoderova, Elizaveta; Kruszka, Paul; Langley, Katherine; Leckie, Ciara; Lecommandeur, Emmanuelle; Ledbetter, David; Lee, Pamela; Lee, Beomhee; Leve, Camille; Lewis, Celine; Lewis, Anna; Liu, Ruby; Longon, Mauro; Lundquist, Alberte; Lunke, Sebastian; MacDuffie, Kate; Malhotra, Ankit; Marcelis, Lionel; Martinez-Fresno, Maria; Matthijs, Gert; Melbardis, Roberts; Merritt, Jessica; Servais, Laurent; Shah, Nidhi; Siitonen, Maija; Singh, Sikha; Siu, Carol; Smith, Hadley; King, Lisa Sniderman; Sondheimer, Neal; St George, Lourdes; Stark, Zornitza; Steiner, Robert; Stoltze, Ulrik; Stray-Pedersen, Asbjørg; Sund, Kristen; Tafas, Paris; Teekakirikul, Polakit; Thanos, Dimitrios; Thurm, Audrey; To, Meekai; Tsipouras, Petros; Tuff-Lacey, Alice; Turner, Heather; Twiss, Philip; Ulph, Fiona; Uribe, Daniel; Urv, Tiina; Vacher, Cora; Van Den Bogaert, Kris; van der Burg, Mirjam; Van Steijvoort, Eva; Veloudi, Yiota; Vengoechea, Elizabeth; Voorhoeve, Els; Vu, Martin; Wasserstein, Melissa; Watson, Michael; Webb, Bryn; Ellsworth, Katarzyna; Badji, Radja Messai; Wedell, Anna; Elsea, Sarah; Metherell, Lou; Westover, Thomas; Encina, Nicolas; Mikkelsen, Nanna Balle; Wiedemann, Alexandra; Etheredge, Harriet; Milko, Laura; Wright, Meredith; Faivre, Laurence; Miller, Nicole; Wu, Cindy; Ferlini, Alessandra; Minten, Thomas; Yeo, Julie; Ferrie, Monica; Morgan, Sian; Yin-Hsiu Chien, Nancy; Finkel, Terri; Mosiewicz, Katarzyna; Yusuff, Shamila; Furu, Petra; Mütze, Ulrike; Zemojtel, Tomasz; Galarza-Cornejo, Jamie; Nicklen, Sukhvinder; Zettler, Bethany; Gao, Ya; Niemela, Minna; Zhao, Zhengyan; Garcia-Villoria, Judit; Niu, Dau-Ming; Ziff, Joanna; Gardner, Liz; Norris, Sarah; Zimmerman, Rebekah; Gaviglio, Amy; Novelli, Antonio; Zuccolo, Michela; Gelb, Michael; Nusair, Arwa; Berg, Jonathan S. ; Chung, Wendy K. ; Cope, Heidi L. ; Eckstein, David J. ; García-Villoria, Judit ; Gelb, Michael H. ; González De Aledo-Castillo, José Manuel ; Golden-Grant, Katie ; Parad, Richard B. ; Sund, Kristen L. ; Green, Robert C. ; Gold, Nina B.
In Genetics in Medicine January 2026 28(1)
Academic Journal
Zygmunt, Aldona; Ververi, Athina; Siu, Carol; Ponzi, Emanuela; Bertini, Enrico; Xinwen, Huang; King, Jovanka; Kassahn, Karin; Koutsogianni, Maria; Valente, Maria Luisa; Pelo, Matthew J.; Gentile, Mattia; Orsini, Paola; Ficarella, Romina; Sansen, Stefaan; Rui, Xiao; Zhengyan, Zhao; Goldenberg, Aaron; Satija, Aditi; Lundquist, Alberte; Ferlini, Alessandra; Wiedemann, Alexandra; Tuff-Lacey, Alice; Al-Maraghi, Aljazi; Pichini, Amanda; Akil, Ammira Alshabeeb; Brower, Amy; Gaviglio, Amy; Ponte, Amy; Oza, Andrea; Posch, Andreas; Barry, Andrew; Rohrwasser, Andy; Malhotra, Ankit; Lewis, Anna; Wedell, Anna; Duintjer, Annelotte; Grueters, Annette; Novelli, Antonio; Bhatatcharjee, Arindam; Nusair, Arwa; Bitton, Asaf; Stray-Pedersen, Asbjørg; Thurm, Audrey; Harmant, Aymeric; Hernan, Becca; Lee, Beomhee; Zettler, Bethany; Boyd, Brenna; Chung, Brian; Kirmse, Brian; Greenstein, Brooke; Bennetts, Bruce; Webb, Bryn; Duz, Bugrahan; Bupp, Caleb; Level, Camille; Cameron, Candance; Philstrom, Carolyn; Goldman, Cassie; Lewis, Celine; Hobbs, Charlotte; Schaaf, Christian; Greene, Christopher; Leckie, Ciara; Wu, Cindy; Kingsley, Clare; Vacher, Cora; Powell, Cynthia; Kasperaviciute, Dalia; Gottlieb, Daniel; Uribe, Daniel; Niu, Dau-Ming; Bick, David; Eckstein, David; Godler, David; Ledbetter, David; Ansel, Derek; Khangsar, Dhayo; Carli, Diana; Thanos, Dimitrios; Pichard, Dominique; Bailey, Don; Bernstein, Donna; Paul Daniel, Earnest James; Vengoechea, Elizabeth; Krupoderova, Elizaveta; Voorhoeve, Els; Agolini, Emanuele; Davoine, Emeline; Lecommandeur, Emmanuelle; Drake, Erin; Van Steijvoort, Eva; Cole, F. Sessions; Ulph, Fiona; Alkuraya, Fowzan; Boemer, François; Gandhi, Geethanjali Devadoss; Brown, Gemma; Bowley, George; Sahyoun, George; Charalambidou, Georgia; Matthijs, Gert; Jin, Guanjun; Gumus, Gulcin; Smith, Hadley; Etheredge, Harriet; Turner, Heather; Cope, Heidi; Brennenstuhl, Heiko; Peay, Holly; Pickering, Holly; Kander, Ines; Holm, Ingrid; Rtskhiladze, Irakli; Buchanan, James; Galarza-Cornejo, Jamie; Ojodu, Jelili; Schleit, Jennifer; Giordano, Jessica; Merritt, Jessica; Chance, Jillian; Ziff, Joanna; Berg, Jonathan; Balciuniene, Jorune; González de Aledo-Castillo, José Manuel; Dewulf, Joseph; Garcia-Villoria, Judit; Yeo, Julie; O'Sullivan, Justin; Alex, Karla; Ellsworth, Katarzyna; Mosiewicz, Katarzyna; MacDuffie, Kate; Langley, Katherine; GoldenGrant, Katie; Danielsen, Katrin Eivindardottir; Paleologos, Katrina; Broomberg, Katya; Chan, Kee; Hagman, Kelly; Kalbfleisch, Kelsey; Irvine, Ken; Hall, Kevin; Van Den Bogaert, Kris; Sund, Kristen; Milko, Laura; Capacchione, Lauren; Scully, Lauren; Faivre, Laurence; Servais, Laurent; Horwitz, Layla; Rottensten, Lene; Kauko, Leni; Protopsaltis, Liana; Henneman, Lidewij; Downie, Lilian; Marcelis, Lionel; Diller, Lisa; King, Lisa Sniderman; Gardner, Liz; Metherell, Lou; St George, Lourdes; Kaplun, Lucy; Hegde, Madhuri; Siitonen, Maija; Bresnahan, Mairead; Ponikowska, Malgorzata; Iascone, Maria; Martinez-Fresno, Maria; Raia, Marianna; Dolle, Martijn; Vu, Martin; Aujla, Matthew; Ellinwood, Matthew; Pelo, Matthew; Longoni, Mauro; To, Meekai; Clarke, Megan; Baker, Mei; Berenger, Melissa; Wasserstein, Melissa; Wright, Meredith; Nyegaard, Mette; Gelb, Michael; Watson, Michael; Zuccolo, Michela; Pirreca, Michelle; Niemela, Minna; van der Burg, Mirjam; Ferrie, Monica; Alshehri, Munira; Sachedina, Nabihah; Yin-Hsiu Chien, Nancy; Mikkelsen, Nanna Balle; Bonhomme, Natasha; Sondheimer, Neal; Encina, Nicolas; Kelly, Nicole; Miller, Nicole; Shah, Nidhi; Armstrong, Niki; Gold, Nina; Ceballo, Onassis Castillo; Dixit, Pakhi; Lee, Pamela; Tafas, Paris; Kruszka, Paul; Rollier, Paul; Furu, Petra; Tsipouras, Petros; Twiss, Philip; Brooks, P.J.; Teekakirikul, Polakit; Klein, Rachel; Badji, Radja Messai; Heiner-Fokkema, Rebecca; Reimers, Rebecca; Zimmerman, Rebekah; Parad, Richard; Scott, Richard; Kaukonen, Riina; Green, Robert; Steiner, Robert; Melbardis, Roberts; Hayeems, Robin; Heald, Rose; Liu, Ruby; Hartmanis, Sally; Elsea, Sarah; Norris, Sarah; Grosse, Scott; Lunke, Sebastian; Yusuff, Shamila; Morgan, Sian; Singh, Sikha; Adelson, Sophia; Seeloff, Stacey; Koelker, Stefan; Coury, Stephanie; Kingsmore, Stephen; Brenner, Steven; Bhatt, Sucheta; Nicklen, Sukhvinder; Clasper, Susan; Drury, Suzanne; Dangouloff, Tamara; Finkel, Terri; Brewster, Thomas; Minten, Thomas; Westover, Thomas; Urv, Tiina; Defay, Tom; Zemojtel, Tomasz; Cox, Tony; Bishop, Tracey; Jensen, Ulrich Glumer; Stoltze, Ulrik; Mütze, Ulrike; Chung, Wendy; Chen, Winnie; Gao, Ya; Quevedo, Yeyson; Veloudi, Yiota; Kousa, Youssef; Chen, Yun-Ru; Hu, Zhanzhi; Stark, Zornitza; Bick, Sarah ; Gehlenborg, Nils ; Amendola, Laura M. ; Coffey, Alison J. ; Kirschner, Janbernd ; Russell, Bianca E. ; Sund, Kristen L. ; Taft, Ryan J. ; Zouk, Hana ; Green, Robert C. ; Gold, Nina B.
In Genetics in Medicine July 2025 27(7)
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)
Academic Journal
Trost, Brett ; Thiruvahindrapuram, Bhooma ; Chan, Ada J.S. ; Engchuan, Worrawat ; Higginbotham, Edward J. ; Howe, Jennifer L. ; Loureiro, Livia O. ; Reuter, Miriam S. ; Roshandel, Delnaz ; Whitney, Joe ; Zarrei, Mehdi ; Bookman, Matthew ; Somerville, Cherith ; Shaath, Rulan ; Abdi, Mona ; Aliyev, Elbay ; Patel, Rohan V. ; Nalpathamkalam, Thomas ; Pellecchia, Giovanna ; Hamdan, Omar ; Kaur, Gaganjot ; Wang, Zhuozhi ; MacDonald, Jeffrey R. ; Wei, John ; Sung, Wilson W.L. ; Lamoureux, Sylvia ; Hoang, Ny ; Selvanayagam, Thanuja ; Deflaux, Nicole ; Geng, Melissa ; Ghaffari, Siavash ; Bates, John ; Young, Edwin J. ; Ding, Qiliang ; Shum, Carole ; D'Abate, Lia ; Bradley, Clarrisa A. ; Rutherford, Annabel ; Aguda, Vernie ; Apresto, Beverly ; Chen, Nan ; Desai, Sachin ; Du, Xiaoyan ; Fong, Matthew L.Y. ; Pullenayegum, Sanjeev ; Samler, Kozue ; Wang, Ting ; Ho, Karen ; Paton, Tara ; Pereira, Sergio L. ; Herbrick, Jo-Anne ; Wintle, Richard F. ; 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 J. ; Zawati, Ma'n H. ; Lang, Michael ; Strug, Lisa J. ; Marshall, Christian R. ; Costain, Gregory ; Calli, Kristina ; Iaboni, Alana ; Yusuf, Afiqah ; Ambrozewicz, Patricia ; Gallagher, Louise ; Amaral, David G. ; Brian, Jessica ; Elsabbagh, Mayada ; Georgiades, Stelios ; Messinger, Daniel S. ; Ozonoff, Sally ; Sebat, Jonathan ; Sjaarda, Calvin ; Smith, Isabel M. ; Szatmari, Peter ; Zwaigenbaum, Lonnie ; Kushki, Azadeh ; Frazier, Thomas W. ; Vorstman, Jacob A.S. ; Fakhro, Khalid A. ; Fernandez, Bridget A. ; Lewis, M.E. Suzanne ; Weksberg, Rosanna ; Fiume, Marc ; Yuen, Ryan K.C. ; Anagnostou, Evdokia ; Sondheimer, Neal ; Glazer, David ; Hartley, Dean M. ; Scherer, Stephen W.
In Cell 10 November 2022 185(23):4409-4427
Academic Journal
Ni, Min ; Afroze, Bushra ; Xing, Chao ; Pan, Chunxiao ; Shao, Yanqiu ; Cai, Ling ; Cantarel, Brandi L. ; Pei, Jimin ; Grishin, Nick V. ; Hewson, Stacy ; Knight, Devon ; Mahida, Sonal ; Michel, Donnice ; Tarnopolsky, Mark ; Poduri, Annapurna ; Rotenberg, Alexander ; Sondheimer, Neal ; DeBerardinis, Ralph J.
In Genetics in Medicine May 2021 23(5):900-908
Academic Journal
Fan, Wenlu ; Zheng, Jing ; Kong, Wanzhong ; Cui, Limei ; Aishanjiang, Maerhaba ; Yi, Qiuzi ; Wang, Min ; Cang, Xiaohui ; Tang, Xiaowen ; Chen, Ye ; Mo, Jun Qin ; Sondheimer, Neal ; Ge, Wanzhong ; Guan, Min-Xin
In Journal of Biological Chemistry 13 December 2019 294(50):19292-19305
Academic Journal
Lionel, Anath C. ; Costain, Gregory ; Monfared, Nasim ; Walker, Susan ; Reuter, Miriam S. ; Hosseini, S. Mohsen ; Thiruvahindrapuram, Bhooma ; Merico, Daniele ; Jobling, Rebekah ; Nalpathamkalam, Thomas ; Pellecchia, Giovanna ; Sung, Wilson W.L. ; Wang, Zhuozhi ; Bikangaga, Peter ; Boelman, Cyrus ; Carter, Melissa T. ; Cordeiro, Dawn ; Cytrynbaum, Cheryl ; Dell, Sharon D. ; Dhir, Priya ; Dowling, James J. ; Heon, Elise ; Hewson, Stacy ; Hiraki, Linda ; Inbar-Feigenberg, Michal ; Klatt, Regan ; Kronick, Jonathan ; Laxer, Ronald M. ; Licht, Christoph ; MacDonald, Heather ; Mercimek-Andrews, Saadet ; Mendoza-Londono, Roberto ; Piscione, Tino ; Schneider, Rayfel ; Schulze, Andreas ; Silverman, Earl ; Siriwardena, Komudi ; Snead, O. Carter ; Sondheimer, Neal ; Sutherland, Joanne ; Vincent, Ajoy ; Wasserman, Jonathan D. ; Weksberg, Rosanna ; Shuman, Cheryl ; Carew, Chris ; Szego, Michael J. ; Hayeems, Robin Z. ; Basran, Raveen ; Stavropoulos, Dimitri J. ; Ray, Peter N. ; Bowdin, Sarah ; Meyn, M. Stephen ; Cohn, Ronald D. ; Scherer, Stephen W. ; Marshall, Christian R.
In Genetics in Medicine April 2018 20(4):435-443
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
Seifert, Erin L. ; Gál, Aniko ; Acoba, Michelle G. ; Li, Qipei ; Anderson-Pullinger, Lauren ; Golenár, Tunde ; Moffat, Cynthia ; Sondheimer, Neal ; Claypool, Steven M. ; Hajnóczky, György
In Journal of Biological Chemistry December 2016 291(50):26126-26137
Academic Journal
Zmajkovicova, Katarina ; Pawar, Sumit ; Sharapova, Svetlana O. ; Geier, Christoph B. ; Wiest, Ivana ; Nguyen, Chi ; Monticelli, Halenya ; Maier-Munsa, Sabine ; Chen, Kelly ; Sleasman, John W. ; Aleshkevich, Svetlana ; Polyakova, Ekaterina ; Sakovich, Inga ; Warnatz, Klaus ; Grimbacher, Bodo ; Proietti, Michele ; Sondheimer, Neal ; Ujhazi, Boglarka ; Gordon, Sumai ; Ellison, Maryssa ; Yilmaz, Melis ; Walter, Jolan E. ; Badarau, Adriana ; Taveras, Arthur G. ; Neff, Jadee L. ; Bledsoe, Jacob R. ; Tarrant, Teresa K.
In Blood Advances 23 July 2024 8(14):3754-3759
Academic Journal
In Biochemical and Biophysical Research Communications 21 August 2015 464(2):369-375
Book
In Thompson y Thompson. Genética y genómica en medicina Edition: Ninth Edition. 2024:109-134
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 October 2023 261
Academic Journal
Gai, Xiaowu ; Ghezzi, Daniele ; Johnson, Mark A. ; Biagosch, Caroline A. ; Shamseldin, Hanan E. ; Haack, Tobias B. ; Reyes, Aurelio ; Tsukikawa, Mai ; Sheldon, Claire A. ; Srinivasan, Satish ; Gorza, Matteo ; Kremer, Laura S. ; Wieland, Thomas ; Strom, Tim M. ; Polyak, Erzsebet ; Place, Emily ; Consugar, Mark ; Ostrovsky, Julian ; Vidoni, Sara ; Robinson, Alan J. ; Wong, Lee-Jun ; Sondheimer, Neal ; Salih, Mustafa A. ; Al-Jishi, Emtethal ; Raab, Christopher P. ; Bean, Charles ; Furlan, Francesca ; Parini, Rossella ; Lamperti, Costanza ; Mayr, Johannes A. ; Konstantopoulou, Vassiliki ; Huemer, Martina ; Pierce, Eric A. ; Meitinger, Thomas ; Freisinger, Peter ; Sperl, Wolfgang ; Prokisch, Holger ; Alkuraya, Fowzan S. ; Falk, Marni J. ; Zeviani, Massimo
In The American Journal of Human Genetics 5 September 2013 93(3):482-495
Academic Journal
Clarke, Colleen ; Xiao, Rui ; Place, Emily ; Zhang, Zhe ; Sondheimer, Neal ; Bennett, Michael ; Yudkoff, Marc ; Falk, Marni J.
In Molecular Genetics and Metabolism September-October 2013 110(1-2):145-152
Academic Journal
Vergano, Samantha A. ; Crossette, Jonathan M. ; Cusick, Frederick C. ; Desai, Bimal R. ; Deardorff, Matthew A. ; Sondheimer, Neal
In Molecular Genetics and Metabolism September-October 2013 110(1-2):102-105
Academic Journal
Sondheimer, Neal ; Aleman, Alberto ; Cameron, Jessie ; Gonorazky, Hernan ; Sabha, Nesrin ; Oliveira, Paula ; Amburgey, Kimberly ; Wahedi, Azizia ; Wang, Dahai ; Shy, Michael ; Dowling., James J.
In Human Genetics and Genomics Advances 13 April 2023 4(2)
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