학술논문
'학술논문'
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1~10
Academic Journal
Kontaridis, Maria I; Roberts, Amy E; Schill, Lisa; Schoyer, Lisa; Stronach, Beth; Andelfinger, Gregor; Aoki, Yoko; Axelrad, Marni E; Bakker, Annette; Bennett, Anton M; Broniscer, Alberto; Castel, Pau; Chang, Caitlin A; Cyganek, Lukas; Das, Tirtha K; Hertog, Jeroen; Galperin, Emilia; Garg, Shruti; Gelb, Bruce D; Gordon, Kristiana; Green, Tamar; Gripp, Karen W; Itkin, Maxim; Kiuru, Maija; Korf, Bruce R; Livingstone, Jeff R; López‐Juárez, Alejandro; Magoulas, Pilar L; Mansour, Sahar; Milner, Theresa; Parker, Elisabeth; Pierpont, Elizabeth I; Plouffe, Kevin; Rauen, Katherine A; Shankar, Suma P; Smith, Shane B; Stevenson, David A; Tartaglia, Marco; Van, Richard; Wagner, Morgan E; Ware, Stephanie M; Zenker, Martin
American Journal of Medical Genetics Part A. 188(6)
Academic Journal
Boskovski, Marko T; Homsy, Jason; Nathan, Meena; Sleeper, Lynn A; Morton, Sarah; Manheimer, Kathryn B; Tai, Angela; Gorham, Joshua; Lewis, Matthew; Swartz, Michael; Alfieris, George M; Bacha, Emile A; Karimi, Mohsen; Meyer, David; Nguyen, Khanh; Bernstein, Daniel; Romano-Adesman, Angela; Porter, George A; Goldmuntz, Elizabeth; Chung, Wendy K; Srivastava, Deepak; Kaltman, Jonathan R; Tristani-Firouzi, Martin; Lifton, Richard; Roberts, Amy E; Gaynor, J William; Gelb, Bruce D; Kim, Richard; Seidman, Jonathan G; Brueckner, Martina; Mayer, John E; Newburger, Jane W; Seidman, Christine E
Circulation Genomic and Precision Medicine. 13(4)
Academic Journal
Edwards, Jonathan J; Rouillard, Andrew D; Fernandez, Nicolas F; Wang, Zichen; Lachmann, Alexander; Shankaran, Sunita S; Bisgrove, Brent W; Demarest, Bradley; Turan, Nahid; Srivastava, Deepak; Bernstein, Daniel; Deanfield, John; Giardini, Alessandro; Porter, George; Kim, Richard; Roberts, Amy E; Newburger, Jane W; Goldmuntz, Elizabeth; Brueckner, Martina; Lifton, Richard P; Seidman, Christine E; Chung, Wendy K; Tristani-Firouzi, Martin; Yost, H Joseph; Ma'ayan, Avi; Gelb, Bruce D
JACC. Basic to translational science. 5(4)
Academic Journal
Circulation. Nov 08, 2022 146(Suppl_1 Suppl 1):A15551-A15551
Academic Journal
Jin, Sheng Chih; Homsy, Jason; Zaidi, Samir; Lu, Qiongshi; Morton, Sarah; DePalma, Steven R; Zeng, Xue; Qi, Hongjian; Chang, Weni; Sierant, Michael C; Hung, Wei-Chien; Haider, Shozeb; Zhang, Junhui; Knight, James; Bjornson, Robert D; Castaldi, Christopher; Tikhonoa, Irina R; Bilguvar, Kaya; Mane, Shrikant M; Sanders, Stephan J; Mital, Seema; Russell, Mark W; Gaynor, J William; Deanfield, John; Giardini, Alessandro; Porter, George A; Srivastava, Deepak; Lo, Cecelia W; Shen, Yufeng; Watkins, W Scott; Yandell, Mark; Yost, H Joseph; Tristani-Firouzi, Martin; Newburger, Jane W; Roberts, Amy E; Kim, Richard; Zhao, Hongyu; Kaltman, Jonathan R; Goldmuntz, Elizabeth; Chung, Wendy K; Seidman, Jonathan G; Gelb, Bruce D; Seidman, Christine E; Lifton, Richard P; Brueckner, Martina
Nature Genetics. 49(11)
Academic Journal
Guo, Tingwei; Repetto, Gabriela M; McDonald McGinn, Donna M; Chung, Jonathan H; Nomaru, Hiroko; Campbell, Christopher L; Blonska, Anna; Bassett, Anne S; Chow, Eva WC; Mlynarski, Elisabeth E; Swillen, Ann; Vermeesch, Joris; Devriendt, Koen; Gothelf, Doron; Carmel, Miri; Michaelovsky, Elena; Schneider, Maude; Eliez, Stephan; Antonarakis, Stylianos E; Coleman, Karlene; Tomita-Mitchell, Aoy; Mitchell, Michael E; Digilio, M Cristina; Dallapiccola, Bruno; Marino, Bruno; Philip, Nicole; Busa, Tiffany; Kushan-Wells, Leila; Bearden, Carrie E; Piotrowicz, Małgorzata; Hawuła, Wanda; Roberts, Amy E; Tassone, Flora; Simon, Tony J; van Duin, Esther DA; van Amelsvoort, Thérèse A; Kates, Wendy R; Zackai, Elaine; Johnston, H Richard; Cutler, David J; Agopian, AJ; Goldmuntz, Elizabeth; Mitchell, Laura E; Wang, Tao; Emanuel, Beverly S; Morrow, Bernice E
Circulation Genomic and Precision Medicine. 10(5)
Academic Journal
Mlynarski, Elisabeth E; Xie, Michael; Taylor, Deanne; Sheridan, Molly B; Guo, Tingwei; Racedo, Silvia E; McDonald-McGinn, Donna M; Chow, Eva WC; Vorstman, Jacob; Swillen, Ann; Devriendt, Koen; Breckpot, Jeroen; Digilio, Maria Cristina; Marino, Bruno; Dallapiccola, Bruno; Philip, Nicole; Simon, Tony J; Roberts, Amy E; Piotrowicz, Małgorzata; Bearden, Carrie E; Eliez, Stephan; Gothelf, Doron; Coleman, Karlene; Kates, Wendy R; Devoto, Marcella; Zackai, Elaine; Heine-Suñer, Damian; Goldmuntz, Elizabeth; Bassett, Anne S; Morrow, Bernice E; Emanuel, Beverly S; International Chromosome 22q11.2 Consortium
Human genetics. 135(3)
De novo mutations in congenital heart disease with neurodevelopmental and other congenital anomalies
Academic Journal
Homsy, Jason; Zaidi, Samir; Shen, Yufeng; Ware, James S; Samocha, Kaitlin E; Karczewski, Konrad J; DePalma, Steven R; McKean, David; Wakimoto, Hiroko; Gorham, Josh; Jin, Sheng Chih; Deanfield, John; Giardini, Alessandro; Porter, George A; Kim, Richard; Bilguvar, Kaya; López-Giráldez, Francesc; Tikhonova, Irina; Mane, Shrikant; Romano-Adesman, Angela; Qi, Hongjian; Vardarajan, Badri; Ma, Lijiang; Daly, Mark; Roberts, Amy E; Russell, Mark W; Mital, Seema; Newburger, Jane W; Gaynor, J William; Breitbart, Roger E; Iossifov, Ivan; Ronemus, Michael; Sanders, Stephan J; Kaltman, Jonathan R; Seidman, Jonathan G; Brueckner, Martina; Gelb, Bruce D; Goldmuntz, Elizabeth; Lifton, Richard P; Seidman, Christine E; Chung, Wendy K
Science. 350(6265)
Academic Journal
Mlynarski, Elisabeth E; Sheridan, Molly B; Xie, Michael; Guo, Tingwei; Racedo, Silvia E; McDonald-McGinn, Donna M; Gai, Xiaowu; Chow, Eva WC; Vorstman, Jacob; Swillen, Ann; Devriendt, Koen; Breckpot, Jeroen; Digilio, Maria Cristina; Marino, Bruno; Dallapiccola, Bruno; Philip, Nicole; Simon, Tony J; Roberts, Amy E; Piotrowicz, Małgorzata; Bearden, Carrie E; Eliez, Stephan; Gothelf, Doron; Coleman, Karlene; Kates, Wendy R; Devoto, Marcella; Zackai, Elaine; Heine-Suñer, Damian; Shaikh, Tamim H; Bassett, Anne S; Goldmuntz, Elizabeth; Morrow, Bernice E; Emanuel, Beverly S; Consortium, the International Chromosome 22q11 2
American Journal of Human Genetics. 96(5)
Academic Journal
Quintero-Rivera, Fabiola; Xi, Qiongchao J; Keppler-Noreuil, Kim M; Lee, Ji Hyun; Higgins, Anne W; Anchan, Raymond M; Roberts, Amy E; Seong, Ihn Sik; Fan, Xueping; Lage, Kasper; Lu, Lily Y; Tao, Joanna; Hu, Xuchen; Berezney, Ronald; Gelb, Bruce D; Kamp, Anna; Moskowitz, Ivan P; Lacro, Ronald V; Lu, Weining; Morton, Cynthia C; Gusella, James F; Maas, Richard L
Human Molecular Genetics. 24(8)
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[AR] Roberts, Amy E
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