학술논문
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'학술논문'
에서 검색결과 166건 | 목록
1~20
Academic Journal
Rafehi, Haloom; Szmulewicz, David J.; Barcina, Maria Garcia; Breen, David P.; Chancellor, Andrew M.; Cremer, Phillip D.; Delatycki, Martin B.; Fogel, Brent L.; Hackett, Anna; Halmagyi, G. Michael; Kapetanovic, Solange; Lang, Anthony; Bennett, Mark F.; Mossman, Stuart; Mu, Weiyi; Patrikios, Peter; Perlman, Susan L.; Rosemergy, Ian; Storey, Elsdon; Watson, Shaun R. D.; Wilson, Michael A.; Zee, David S.; Valle, David; Sobreira, Nara L. M.; Amor, David J.; Bahlo, Melanie; Lockhart, Paul J.; Pope, Kate; Smith, Katherine R.; Gillies, Greta; Diakumis, Peter; Dolzhenko, Egor; Eberle, Michael A.
Am J Hum Genet
Rafehi, H, Szmulewicz, D J, Bennett, M F,Sobreira , N L M, Pope, K, Smith, K R, Gillies, G, Diakumis, P, Dolzhenko, E, Eberle, M A, Barcina, M G, Breen, D P, Chancellor, A M, Cremer, P D, Delatycki, M B, Fogel, B L , Hackett, A, Halmagyi, G M, Kapetanovic, S, Lang, A, Mossman, S, Mu, W, Patrikios, P, Perlman, S L , Rosemergy, I, Storey, E, Watson, S R D, Wilson, M A, Zee, D S, Valle, D, Amor, D J, Bahlo, M & Lockhart, P J 2019, ' Bioinformatics-Based Identification of Expanded Repeats: A Non-reference Intronic Pentamer Expansion in RFC1 Causes CANVAS ', American Journal of Human Genetics . https://doi.org/10.1016/j.ajhg.2019.05.016
American Journal of Human Genetics, vol 105, iss 1
Rafehi, H, Szmulewicz, D J, Bennett, M F,
American Journal of Human Genetics, vol 105, iss 1
Academic Journal
Liu, Jiaqi ; Wu, Nan ; Yang, Nan ; Takeda, Kazuki ; Chen, Weisheng ; Li, Weiyu ; Du, Renqian ; Liu, Sen ; Zhou, Yangzhong ; Zhang, Ling ; Liu, Zhenlei ; Zuo, Yuzhi ; Zhao, Sen ; Blank, Robert ; Pehlivan, Davut ; Dong, Shuangshuang ; Zhang, Jianguo ; Shen, Jianxiong ; Si, Nuo ; Wang, Yipeng ; Liu, Gang ; Li, Shugang ; Zhao, Yanxue ; Zhao, Hong ; Chen, Yixin ; Zhao, Yu ; Song, Xiaofei ; Hu, Jianhua ; Lin, Mao ; Tian, Ye ; Yuan, Bo ; Yu, Keyi ; Niu, Yuchen ; Yu, Bin ; Li, Xiaoxin ; Chen, Jia ; Yan, Zihui ; Zhu, Qiankun ; Meng, Xiaolu ; Chen, Xiaoli ; Su, Jianzhong ; Zhao, Xiuli ; Wang, Xiaoyue ; Ming, Yue ; Li, Xiao ; Raggio, Cathleen L. ; Zhang, Baozhong ; Weng, Xisheng ; Zhang, Shuyang ; Zhang, Xue ; Watanabe, Kota ; Matsumoto, Morio ; Jin, Li ; Shen, Yiping ; Sobreira, Nara L. ; Posey, Jennifer E. ; Giampietro, Philip F. ; Valle, David ; Liu, Pengfei ; Wu, Zhihong ; Ikegawa, Shiro ; Lupski, James R. ; Zhang, Feng ; Qiu, Guixing
In Genetics in Medicine July 2019 21(7):1548-1558
Academic Journal
Sarah R Poll; Renan Martin; Elizabeth Wohler; Elizabeth S Partan; Elizabeth Walek; Shaima Salman; Daniel Groepper; Lisa Kratz; Mirlene Cernach; Reynaldo Jesus-Garcia; Chad Haldeman-Englert; Yoon Jae Choi; Carol D Morris; Bernard Cohen; Julie Hoover-Fong; David Valle; Gregg L Semenza; Nara L M Sobreira
PLoS Genetics, Vol 18, Iss 12, p e1010504 (2022)
Academic Journal
Lord J. J. Gowans; Noura Al Dhaheri; Mary Li; Tamara Busch; Solomon Obiri‐Yeboah; Alexander A. Oti; Daniel K. Sabbah; Fareed K. N. Arthur; Waheed O. Awotoye; Azeez A. Alade; Peter Twumasi; Pius Agbenorku; Gyikua Plange‐Rhule; Thirona Naicker; Peter Donkor; Jeffrey C. Murray; Nara L. M. Sobreira; Azeez Butali
Molecular Genetics & Genomic Medicine, Vol 9, Iss 4, Pp n/a-n/a (2021)
Academic Journal
Te Riele, Anneline S J M; Agullo-Pascual, Esperanza; James, Cynthia A.; Leo-Macias, Alejandra; Cerrone, Marina; Zhang, Mingliang; Lin, Xianming; Lin, Bin; Rothenberg, Eli; Sobreira, Nara L.; Amat-Alarcon, Nuria; Marsman, Roos F.; Murray, Brittney; Tichnell, Crystal; Van Der Heijden, Jeroen F.; Dooijes, Dennis; Van Veen, Toon A B; Tandri, Harikrishna; Fowler, Steven J.; Hauer, Richard N W; Tomaselli, Gordon; Van Den Berg, Maarten P.; Taylor, Matthew R G; Brun, Francesca; Sinagra, Gianfranco; Wilde, Arthur A M; Mestroni, Luisa; Bezzina, Connie R.; Calkins, Hugh; Van Tintelen, J. Peter; Bu, Lei; Delmar, Mario; Judge, Daniel P.
Cardiovascular Research. 113:102-111
Academic Journal
Tenorio, Annel Andrea Leon; Sugio, Takeshi; Cheng, Jordan; Bonner, Devon E.; Esfahani, Mohammad Shahrokh; Kasinathan, Sivakanthan; Hsu, Joyce J.; Moyer, Amanda; Vera, Luisa Pimentel; Carter, Jennefer; Reuter, Chloe M.; Marwaha, Shruti; Balboni, Imelda; 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.; 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; Slavotinek, Anne; Mayhew, Christopher; Mendonca, Eneida; Guo, Ziyuan; Mcconkie‐Rosell, Allyn; Schoch, Kelly; Mikati, Mohamad; Walley, Nicole M.; Spillmann, Rebecca C.; Shashi, Vandana; Beggs, Alan H.; Sweetser, David A.; Chiang, David; Rao, Deepak A.; High, Frances; Mochida, Ganesh; Berry, Gerard T.; Holm, Ingrid A.; Pallais, J. Carl; Loscalzo, Joseph; Rodan, Lance H.; Briere, Lauren C.; Walker, Melissa; Truong, Tina; Chung, Wendy; Esteves, Cecilia; Glanton, Emily; Kohane, Isaac S.; Leblanc, Kimberly; Sunyaev, Shamil R.; Kobren, Shilpa N.; Graham, Brett H.; Conboy, Erin; Vetrini, Francesco; Treat, Kayla M.; Liaqat, Khurram; Mantcheva, Lili; Ware, Stephanie M.; Page, Kathleen; Auwaerter, Paul; Manabe, Yuka; Pardo‐Villamizar, Carlos A.; Hoover‐Fong, Julie; Witmer, Philip Dane; Timp, Winston; Robinson, Matthew; Berger, Zackary Dov; Wohler, Elizabeth; Sobreira, Nara; Nouraee, Arian; Prada, Carlos; Davis, Erica; Yap, Kai Lee; Regan‐Fendt, Kelly; Silva, María Paula; Mcmullen, Patrick; Mitchell, Breanna; Lanpher, Brendan C.; Oglesbee, Devin; Klee, Eric; Pinto, 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 T.; 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; Jobanputra, Vaidehi; Gropman, Andrea; Swerdzewski, Barbara N. Pusey; 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 E.; 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; Perlman, Seth; Chanprasert, Sirisak; Sybert, Virginia; Raskind, Wendy; Dargie, Nitsuh K.; Chan, Chun‐Hung; Velasquez, Dr Francisco Bustos; 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; 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; Montgomery, Stephen B.; Bachir, Suha; Jensen, Tanner D.; Maurer, Taylor; Coakley, Terra R.; Ashley, Euan A.; Hurst, Anna; Wilk, Brandon M.; Korf, Bruce; Worthey, Elizabeth A.; Callaway, Kaitlin; Rodriguez, Martin; Lertwilaiwittaya, Pongtawat; Blackburn, Reaford; Skelton, Tammi; Mamidi, Tarun K.K.; Washington, Teneasha; 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.; Farraj, Layal F. Abi; Butte, Manish J.; Martin, Martin G.; Dorrani, Naghmeh; Parker, Neil H.; Corona, Rosario I.; Nelson, Stanley F.; Karasozen, Yigit; Sayer, Dana; Tousseau, Jennifer; Quinlan, Aaron; Ward, Alistair; Andrews, Ashley; Welt, Corrine K.; Viskochil, Dave; Baldwin, Erin E.; Carey, John; Alvey, Justin; 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; Phillips, John A.; Ezell, Kimberly; Rives, Lynette; Hamid, Rizwan; Krokosky, Alyson; Mcminn, Ashley; Shyr, Cathy; Gamazon, Eric; Cogan, Joy D.; Perera, Lakshitha; Bastarache, Lisa; Koziura, Mary; 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; Romero, María José Ortuño; Gerstein, Mark; Spencer‐Manzon, Michele; Lek, Monkol; Derar, Nada; Kaufman, Odelya; Mane, Shrikant; Serrano, Teodoro Jerves; Vasiliou, Vasilis; Halstead, Winston; Jiang, Yong‐Hui; Alizadeh, Ash; Gomez‐Ospina, Natalia
ACR Open Rheumatology. February 22, 2026, Vol. 8 Issue 2
Academic Journal
Cananzi, Mara; Wohler, Elizabeth; Marzollo, Antonio; Colavito, Davide; You, Jing; Jing, Huie; Bresolin, Silvia; Gaio, Paola; Martin, Renan; Mescoli, Claudia; Bade, Sangeeta; Posey, Jennifer E.; Dalle Carbonare, Maurizio; Tung, Wesley; Jhangiani, Shalini N.; Bosa, Luca; Zhang, Yu; Filho, Joselito Sobreira; Gabelli, Maria; Kellermayer, Richard; Kader, Howard A.; Oliva-Hemker, Maria; Perilongo, Giorgio; Lupski, James R.; Biffi, Alessandra; Valle, David; Leon, Alberta; de Macena Sobreira, Nara Lygia; Su, Helen C.; Guerrerio, Anthony L.
Human Genetics. 140(9):1299-1312
Academic Journal
Cooperstein, Isabelle B.; Marwaha, Shruti; Ward, Alistair; Kobren, Shilpa N.; Carter, Jennefer N.; Quinlan, Aaron; Elkadri, Abdul; Vanderver, Adeline; Rebelo, Adriana; Beggs, Alan H; La Spada, Albert R; Huang, Alden; Paul, Alex; Miller, Alexander; Bale, Allen; McConkie-Rosell, Allyn; Krokosky, Alyson; Tran, Alyssa A; Gropman, Andrea; Vargas, Andres; Crouse, Andrew B; Stergachis, Andrew; Hurst, Anna; Raper, Anna; Slavotinek, Anne; Nouraee, Arian; Tarakad, Arjun; Andrews, Ashley; McMinn, Ashley; Balasubramanyam, Ashok; Iverson, Ayuko; Pusey Swerdzewski, Barbara N; 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; Tucker, Brianna; Gelb, Bruce; Korf, Bruce; MacRae, Calum A; Toro, Camilo; Skraban, Cara; Bacino, Carlos A; Pardo-Villamizar, Carlos A; Prada, Carlos; Oladele, Carol; Hendry, Caroline; Smith, Carson A; Shyr, Cathy; Esteves, Cecilia; Xiao, Changrui; Cunningham-Rundles, Charlotte; Reuter, Chloe M; Eng, Christine M; Mayhew, Christopher; Chan, Chun-Hung; Wahl, Colleen E; Welt, Corrine K; Tifft, Cynthia J; Kiley, Dana; Sayer, Dana; Rader, Daniel J; Wegner, Daniel; Miller, Danny E; Scott, Daryl A; Viskochil, Dave; Sweetser, David A; Adams, David R; Barbouth, Deborah; Rao, Deepak A; Oglesbee, Devin; Bonner, Devon; Basel, Donald; Novacic, Donna; velasq, Francisco Bustos; 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; Wohler, Elizabeth; Macnamara, Ellen F; Balton, Elsa; Glanton, Emily; Shelkowitz, Emily; Wang, Emily; Mendonca, Eneida; Allenspach, Eric; Gamazon, Eric; Gayle, Eric; Klee, Eric; Vilain, Eric; Davis, Erica; 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; 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; Morgan, Jennifer; Schymick, Jennifer; Tousseau, Jennifer; Wambach, Jennifer; Douglas, Jessica; Fu, Jiayu; Rosenfeld, Jill A; Shin, Jimann; Stoler, Joan M; Jen, Joanna; Gonzalez, Joanna M; Phillips, John A; Carey, John; Gorzynski, John E; Mulvihill, John J; Davis, Joie; Bernstein, Jonathan A; Whitlock, Jordan; Abdenur, Jose; Loscalzo, Joseph; Cogan, Joy D; Martínez-Agosto, Julian A; Hoover-Fong, Julie; McCarrier, Julie; Alvey, Justin; Darr, Kahlen; Yap, Kai Lee; Callaway, Kaitlin; Leppig, Kathleen A; Page, Kathleen; Sullivan, Kathleen; Sisco, Kathy; Dipple, Katrina; Treat, Kayla M; Hassey, Kelly; Regan-Fendt, Kelly; Schoch, Kelly; Smith, Kevin S; Liaqat, Khurram; Worley, Kim; Ezell, Kimberly; LeBlanc, Kimberly; Blanco, Kirsten; Latchman, Kumarie; Perera, Lakshitha; Rodan, Lance H; Keehan, Laura; Cobban, Laurel A; Blieden, Lauren; Briere, Lauren C; Jeffries, Lauren; Wiel, Laurens; Abi Farraj, Layal F; Petcharet, Leoyklang; Peart, LéShon; Mantcheva, Lili; Solnica-Krezel, Lilianna; Burrage, Lindsay C; Mulvihill, Lindsay; Bastarache, Lisa; Schimmenti, Lisa; Emrick, Lisa T; Botto, Lorenzo; Potocki, Lorraine; Bier, Louise; Rives, Lynette; Wolfe, Lynne A; Barbosa, Mafalda; Steenari, Maija-Rikka; Butte, Manish J; Balwani, Manisha; Delgado, Margaret; Romero, María José Ortuño; Silva, María Paula; Acosta, Maria T; Morimoto, Marie; Nakano-Okuno, Mariko; Shadrina, Mariya; Gerstein, Mark; Wener, Mark; Sabaii, Marla; Horike-Pyne, Martha; Martin, Martin G; Rodriguez, Martin; Koziura, Mary; Velinder, Matt; Coggins, Matthew; Might, Matthew; Robinson, 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 T; Spencer-Manzon, Michele; Leitheiser, Miranda; Mikati, Mohamad; Saifeddine, Mohamad; Hubshman, Monika Weisz; Lek, Monkol; Westerfield, Monte; Tekin, Mustafa; Derar, Nada; Dorrani, Naghmeh; Sobreira, Nara; 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; McMullen, Patrick; Auwaerter, Paul; Berger, Paul; Fisher, Paul G; Liu, Pengfei; Byers, Peter; Witmer, Philip Dane; Bayrak-Toydemir, Pinar; Lertwilaiwittaya, Pongtawat; D'Souza, Precilla; Tan, Queenie; Ungar, Rachel A; Evard, Rachel; Li, Rachel; Quarells, Rakale C; Rajagopalan, Ramakrishnan; Alvarez, Raquel L; Blackburn, Reaford; Spillmann, Rebecca C; Ganetzky, Rebecca; Overbury, Rebecca; Barrick, Rebekah; Lewis, Richard A; Chang, Richard; Maas, Richard L; Hamid, Rizwan; Mao, Rong; Marom, Ronit; Corona, Rosario I; Kumar, Runjun; Butterfield, Russell; Attaripour, Sanaz; Nagamani, Sandesh; Emami, Sara; Shuman, Saskia; Lalani, Seema R; Perlman, Seth; Ketkar, Shamika; Sunyaev, Shamil R; Kobren, Shilpa N; Yamamoto, Shinya; Mane, Shrikant; Chanprasert, Sirisak; Nelson, Stanley F; Zuchner, Stephan; Bivona, Stephanie; Ware, Stephanie M; Montgomery, Stephen B; Pak, Stephen C; Boyden, Steven; Bachir, Suha; Dasari, Surendra; Korrick, Susan; Shin, Susan; Sandmeyer, Suzanne; Mozaffar, Tahseen; Skelton, Tammi; Jensen, Tanner D; Mamidi, Tarun KK; Beagle, Taylor; Maurer, Taylor; Washington, Teneasha; 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; Timp, Winston; Huang, Yan; Karasozen, Yigit; Jiang, Yong-Hui; Manabe, Yuka; Berger, Zackary Dov; Guo, Ziyuan
Genome Medicine. October 21, 2025, Vol. 17 Issue 1
Academic Journal
Schnappauf, Oskar; Zhou, Qing; Moura, Natalia Sampaio; Ombrello, Amanda K.; Michael, Drew G.; Deuitch, Natalie; Barron, Karyl; Stone, Deborah L.; Hoffmann, Patrycja; Hershfield, Michael; Applegate, Carolyn; Bjornsson, Hans T.; Beck, David B.; Witmer, P. Dane; Sobreira, Nara; Wohler, Elizabeth; Chiorini, John A.; Center, The American Genome; Dalgard, Clifton L.; Center, NIH Intramural Sequencing; Kastner, Daniel L.; Aksentijevich, Ivona
Journal of Clinical Immunology: International Journal of Inborn Errors of Immunity and Related Diseases. 40(6):917-926
Academic Journal
You, Jing ; Sobreira, Nara L. ; Gable, Dustin L. ; Jurgens, Julie ; Grange, Dorothy K. ; Belnap, Newell ; Siniard, Ashley ; Szelinger, Szabolcs ; Schrauwen, Isabelle ; Richholt, Ryan F. ; Vallee, Stephanie E. ; Dinulos, Mary Beth P. ; Valle, David ; Armanios, Mary ; Hoover-Fong, Julie
In The American Journal of Human Genetics 5 May 2016 98(5):909-918
Academic Journal
Castilla-Vallmanya, Laura; Selmer, Kaja K.; Dimartino, Clémantine; Rabionet, Raquel; Blanco-Sánchez, Bernardo; Yang, Sandra; Reijnders, Margot R. F.; van Essen, Antonie J.; Oufadem, Myriam; Vigeland, Magnus D.; Stadheim, Barbro; Houge, Gunnar; Cox, Helen; Kingston, Helen; Clayton-Smith, Jill; Innis, Jeffrey W.; Iascone, Maria; Cereda, Anna; Gabbiadini, Sara; Chung, Wendy K.; Sanders, Victoria; Charrow, Joel; Bryant, Emily; Millichap, John; Vitobello, Antonio; Thauvin, Christel; Mau-Them, Frederic Tran; Faivre, Laurence; Lesca, Gaetan; Labalme, Audrey; Rougeot, Christelle; Chatron, Nicolas; Sanlaville, Damien; Christensen, Katherine M.; Kirby, Amelia; Lewandowski, Raymond; Gannaway, Rachel; Aly, Maha; Lehman, Anna; Clarke, Lorne; Graul-Neumann, Luitgard; Zweier, Christiane; Lessel, Davor; Lozic, Bernarda; Aukrust, Ingvild; Peretz, Ryan; Stratton, Robert; Smol, Thomas; Dieux-Coëslier, Anne; Meira, Joanna; Wohler, Elizabeth; Sobreira, Nara; Beaver, Erin M.; Heeley, Jennifer; Briere, Lauren C.; High, Frances A.; Sweetser, David A.; Walker, Melissa A.; Keegan, Catherine E.; Jayakar, Parul; Shinawi, Marwan; Kerstjens-Frederikse, Wilhelmina S.; Earl, Dawn L.; Siu, Victoria M.; Reesor, Emma; Yao, Tony; Hegele, Robert A.; Vaske, Olena M.; Rego, Shannon; Shapiro, Kevin A.; Wong, Brian; Gambello, Michael J.; McDonald, Marie; Karlowicz, Danielle; Colombo, Roberto; Serretti, Alessandro; Pais, Lynn; O’Donnell-Luria, Anne; Wray, Alison; Sadedin, Simon; Chong, Belinda; Tan, Tiong Y.; Christodoulou, John; White, Susan M.; Slavotinek, Anne; Barbouth, Deborah; Morel Swols, Dayna; Parisot, Mélanie; Bole-Feysot, Christine; Nitschké, Patrick; Pingault, Véronique; Munnich, Arnold; Cho, Megan T.; Cormier-Daire, Valérie; Balcells, Susanna; Lyonnet, Stanislas; Grinberg, Daniel; Amiel, Jeanne; Urreizti, Roser; Gordon, Christopher T.
Genetics in Medicine: Official journal of the American College of Medical Genetics and Genomics. 22(7):1215-1226
Academic Journal
Posey, Jennifer E.; O’Donnell-Luria, Anne H.; Chong, Jessica X.; Harel, Tamar; Jhangiani, Shalini N.; Coban Akdemir, Zeynep H.; Buyske, Steven; Pehlivan, Davut; Carvalho, Claudia M. B.; Baxter, Samantha; Sobreira, Nara; Liu, Pengfei; Wu, Nan; Rosenfeld, Jill A.; Kumar, Sushant; Avramopoulos, Dimitri; White, Janson J.; Doheny, Kimberly F.; Witmer, P. Dane; Boehm, Corinne; Sutton, V. Reid; Muzny, Donna M.; Boerwinkle, Eric; Günel, Murat; Nickerson, Deborah A.; Mane, Shrikant; MacArthur, Daniel G.; Gibbs, Richard A.; Hamosh, Ada; Lifton, Richard P.; Matise, Tara C.; Rehm, Heidi L.; Gerstein, Mark; Bamshad, Michael J.; Valle, David; Lupski, James R.; Centers for Mendelian Genomics
Genetics in Medicine: Official journal of the American College of Medical Genetics and Genomics. 21(4):798-812
Academic Journal
Gould, Russell A.; Aziz, Hamza; Woods, Courtney E.; Seman-Senderos, Manuel Alejandro; Sparks, Elizabeth; Preuss, Christoph; Wünnemann, Florian; Bedja, Djahida; Moats, Cassandra R.; McClymont, Sarah A.; Rose, Rebecca; Sobreira, Nara; Ling, Hua; MacCarrick, Gretchen; Kumar, Ajay Anand; Luyckx, Ilse; Cannaerts, Elyssa; Verstraeten, Aline; Björk, Hanna M.; Lehsau, Ann-Cathrin; Jaskula-Ranga, Vinod; Lauridsen, Henrik; Shah, Asad A.; Bennett, Christopher L.; Ellinor, Patrick T.; Lin, Honghuang; Isselbacher, Eric M.; Lino Cardenas, Christian Lacks; Butcher, Jonathan T.; Hughes, G. Chad; Lindsay, Mark E.; Mertens, Luc; Franco-Cereceda, Anders; Verhagen, Judith M. A.; Wessels, Marja; Mohamed, Salah A.; Eriksson, Per; Mital, Seema; Van Laer, Lut; Loeys, Bart L.; Andelfinger, Gregor; McCallion, Andrew S.; Dietz, Harry C.
Nature Genetics. 51(1):42-50
Academic Journal
Gripp, Karen W; Robbins, Katherine M; Sobreira, Nara L; Witmer, P Dane; Bird, Lynne M; Avela, Kristiina; Makitie, Outi; Alves, Daniela; Hogue, Jacob S; Zackai, Elaine H; Doheny, Kimberly F; Stabley, Deborah L; Sol‐Church, Katia
American Journal of Medical Genetics Part A, vol 167, iss 2
Academic Journal
Mealy, Maureen A.; Nam, Tai-Seung; Pardo, Santiago J.; Pardo, Carlos A.; Sobreira, Nara L.; Avramopoulos, Dimitrios; Valle, David; Burns, Kathleen H.; Levy, Michael
Neurology: Genetics. Feb 01, 2018 4(1)
Academic Journal
Mulle, Jennifer Gladys; Dodd, Anne F.; McGrath, John A.; Wolyniec, Paula S.; Mitchell, Adele A.; Shetty, Amol C.; Sobreira, Nara L.; Valle, David; Rudd, M. Katharine; Satten, Glen; Cutler, David J.; Pulver, Ann E.; Warren, Stephen T.
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Academic Journal
Telegrafi, Aida; Webb, Bryn D.; Robbins, Sarah M.; Speck‐Martins, Carlos E.; FitzPatrick, David; Fleming, Leah; Redett, Richard; Dufke, Andreas; Houge, Gunnar; van Harssel, Jeske J. T.; Verloes, Alain; Robles, Angela; Manoli, Irini; Engle, Elizabeth C.; Jabs, Ethylin W.; Valle, David; Carey, John; Hoover‐Fong, Julie E.; Sobreira, Nara L. M.
American Journal of Medical Genetics Part A. Oct 01, 2017 173(10):2763-2771
Academic Journal
David A. Dyment; Anne O'Donnell‐Luria; Pankaj B. Agrawal; Zeynep Coban Akdemir; Kyrieckos A. Aleck; Danny Antaki; Hind Al Sharhan; Ping‐Yee B. Au; Hatip Aydin; Alan H. Beggs; Kaya Bilguvar; Eric Boerwinkle; Harrison Brand; Catherine A. Brownstein; Steve Buyske; Bernard Chodirker; Jungmin Choi; Albert E. Chudley; Carol L. Clericuzio; Gerald F. Cox; Cynthia Curry; Elke de Boer; Bert B. A. de Vries; Kathryn Dunn; Cullen M. Dutmer; Eleina M. England; Jill A. Fahrner; Bilgen B. Geckinli; Casie A. Genetti; Alper Gezdirici; William T. Gibson; Joseph G. Gleeson; Cheryl R. Greenberg; April Hall; Ada Hamosh; Taila Hartley; Shalini N. Jhangiani; Ender Karaca; Kristin Kernohan; Julie L. Lauzon; M. E. Suzanne Lewis; R. Brian Lowry; Francesc López‐Giráldez; Tara C. Matise; Jennifer McEvoy‐Venneri; Brenda McInnes; Aziz Mhanni; Sixto Garcia Minaur; Jukka Moilanen; An Nguyen; Malgorzata J. M. Nowaczyk; Jennifer E. Posey; Katrin Õunap; Davut Pehlivan; Sander Pajusalu; Lynette S. Penney; Timothy Poterba; Paolo Prontera; Maria Juliana Rodovalho Doriqui; Sarah L. Sawyer; Nara Sobreira; Valentina Stanley; Deniz Torun; David Wargowski; P. Dane Witmer; Isaac Wong; Jinchuan Xing; Maha S. Zaki; Yeting Zhang; Kym M. Boycott; Michael J. Bamshad; Deborah A. Nickerson; Elizabeth E. Blue; A. Micheil Innes
American Journal of Medical Genetics Part A. 185:119-133
Academic Journal
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Clinical Dysmorphology. 32:172-174
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