학술논문
'학술논문'
에서 검색결과 75건 | 목록
1~10
Academic Journal
Singer-Berk, Moriel; Gudmundsson, Sanna; Baxter, Samantha; Seaby, Eleanor G.; England, Eleina; Wood, Jordan C.; Son, Rachel G.; Watts, Nicholas A.; Karczewski, Konrad J.; Harrison, Steven M.; MacArthur, Daniel G.; Rehm, Heidi L.; O’Donnell-Luria, Anne
In The American Journal of Human Genetics 7 September 2023 110(9):1496-1508
Academic Journal
Abouhala, Siwaar; Albert, Jessica; Almalvez, Miguel; Alvarez, Raquel; Amin, Mutaz; Anderson, Peter; Aradhya, Swaroop; Ashley, Euan; Assimes, Themistocles; Auriga, Light; Austin-Tse, Christina; Bamshad, Mike; Barseghyan, Hayk; Baxter, Samantha; Behera, Sairam; Beheshti, Shaghayegh; Bejerano, Gill; Berger, Seth; Bernstein, Jon; Best, Sabrina; Blankenmeister, Benjamin; Blue, Elizabeth; Boerwinkle, Eric; Bonkowski, Emily; Bonner, Devon; Boone, Philip; Bornhorst, Miriam; Bozkurt-Yozgatli, Tugce; Brand, Harrison; Buckingham, Kati; Calame, Daniel; Casadei, Silvia; Chadwick, Lisa; Chavez, Clarisa; Chen, Ziwei; Chinn, Ivan; Chong, Jessica; Coban-Akdemir, Zeynep; Cohen, Andrea J.; Conner, Sarah; Conomos, Matthew; Coveler, Karen; Cui, Ya Allen; Currin, Sara; Daber, Robert; Dardas, Zain; Davis, Colleen; Dawood, Moez; de Dios, Ivan; de Esch, Celine; Delaney, Meghan; Délot, Emmanuèle; DiTroia, Stephanie; Doddapaneni, Harsha; Du, Haowei; Duan, Ruizhi; Dugan-Perez, Shannon; Duong, Nhat; Duyzend, Michael; Eichler, Evan; Emami, Sara; Fatih, Jawid; Fraser, Jamie; Fusaro, Vincent; Galey, Miranda; Ganesh, Vijay; Garimella, Kiran; Gibbs, Richard; Gifford, Casey; Ginsburg, Amy; Goddard, Pagé; Gogarten, Stephanie; Gogate, Nikhita; Gordon, William; Gorzynski, John E.; Greenleaf, William; Grochowski, Christopher; Groopman, Emily; Guarischi Sousa, Rodrigo; Gudmundsson, Sanna; Gulati, Ashima; Guo, Daniel; Hale, Walker; Hall, Stacey; Harvey, William; Hawley, Megan; Heavner, Ben; Herman, Isabella; Horike-Pyne, Martha; Hu, Jianhong; Huang, Yongqing; Hwang, James; Jarvik, Gail; Jensen, Tanner; Jhangiani, Shalini; Jimenez-Morales, David; Jin, Christopher; Saad, Ahmed K.; Kahn-Kirby, Amanda; Kain, Jessica; Kaur, Parneet; Keehan, Laura; Knoblach, Susan; Ko, Arthur; Kohler, Jennefer; Kundaje, Anshul; Kundu, Soumya; Lancaster, Samuel M.; Larsson, Katie; Lemire, Gabrielle; Lewis, Richard; Li, Wei; Li, Yidan; Liu, Pengfei; LoTempio, Jonathan; Lupski, James; Ma, Jialan; MacArthur, Daniel; Mahmoud, Medhat; Malani, Nirav; Mangilog, Brian; Marafi, Dana; Marmolejos, Sofia; Marten, Daniel; Martinez, Eva; Marvin, Colby; Marwaha, Shruti; Kumara Mastrorosa, Francesco; Matalon, Dena; May, Susanne; McGee, Sean; Meador, Lauren; Mefford, Heather; Rodrigo Mendez, Hector; Miller, Alexander; Miller, Danny E.; Mitani, Tadahiro; Montgomery, Stephen; Moussa, Hala Mohamed; Moyses, Mariana; Munderloh, Chloe; Muzny, Donna; Nelson, Sarah; Neu, Matthew B.; Nguyen, Jonathan; Nguyen, Thuy-mi P.; Nussbaum, Robert; Nykamp, Keith; O'Callaghan, William; O'Heir, Emily; O'Leary, Melanie; Olsen, Jeren; Osei-Owusu, Ikeoluwa; O'Donnell-Luria, Anne; Padhi, Evin; Pais, Lynn; Pan, Miao; Panchal, Piyush; Patterson, Karynne; Payne, Sheryl; Pehlivan, Davut; Petrowski, Paul; Pham, Alicia; Pitsava, Georgia; Podesta, Astaria; Ponce, Sarah; Posey, Jennifer; Prosser, Jaime; Quertermous, Thomas; Rai, Archana; Ramani, Arun; Rehm, Heidi; Reuter, Chloe; Reuter, Jason; Richardson, Matthew; Rivera-Munoz, Andres; Rubio, Oriane; Sabo, Aniko; Salani, Monica; Samocha, Kaitlin; Sanchis-Juan, Alba; Savage, Sarah; Scott, Stuart; Scott, Evette; Sedlazeck, Fritz; Shah, Gulalai; Shojaie, Ali; Singh, Mugdha; Smith, Josh; Smith, Kevin; Snow, Hana; Snyder, Michael; Socarras, Kayla; Starita, Lea; Stark, Brigitte; Stenton, Sarah; Stergachis, Andrew; Stilp, Adrienne; Sundaram, Laksshman; Sutton, V. Reid; Tai, Jui-Cheng; Talkowski, Michael; Tise, Christina; Tong, Catherine; Tsao, Philip; Ungar, Rachel; VanNoy, Grace; Vilain, Eric; Voutos, Isabella; Walker, Kim; Weisburd, Ben; Weiss, Jeff; Wellington, Chris; Weng, Ziming; Westheimer, Emily; Wheeler, Marsha; Wheeler, Matthew; Wiel, Laurens; Wilson, Michael; Wojcik, Monica; Wong, Quenna; Wong, Issac; Xiao, Changrui; Yadav, Rachita; Yi, Qian; Yuan, Bo; Zhao, Jianhua; Zhen, Jimmy; Zhou, Harry; Wojcik, Monica H.; Reuter, Chloe M.; Duyzend, Michael H.; Boone, Philip M.; Groopman, Emily E.; Délot, Emmanuèle C.; Jain, Deepti; Starita, Lea M.; Montgomery, Stephen B.; Bamshad, Michael J.; Chong, Jessica X.; Wheeler, Matthew T.; Berger, Seth I.; Sedlazeck, Fritz J.
In The American Journal of Human Genetics 3 August 2023 110(8):1229-1248
A novel quantitative targeted analysis of X-chromosome inactivation (XCI) using nanopore sequencing.
Academic Journal
Johansson, Josefin; Lidéus, Sarah; Höijer, Ida; Ameur, Adam; Gudmundsson, Sanna; Annerén, Göran; Bondeson, Marie-Louise; Wilbe, Maria
Academic Journal
Gudmundsson, Sanna; Annerén, Göran; Marcos-Alcalde, Íñigo; Wilbe, Maria; Melin, Malin; Gómez-Puertas, Paulino; Bondeson, Marie-Louise
In European Journal of Medical Genetics June 2019 62(6)
Periodical
Johansson, Josefin; Lidéus, Sarah; Frykholm, Carina; Gunnarsson, Cecilia; Mihalic, Filip; Gudmundsson, Sanna; Ekvall, Sara; Molin, Anna-Maja; Pham, Mai; Vihinen, Mauno; Lagerstedt-Robinson, Kristina; Nordgren, Ann; Jemth, Per; Ameur, Adam; Annerén, Göran; Wilbe, Maria; Bondeson, Marie-Louise
European Journal of Human Genetics: EJHG; March 2024, Vol. 32 Issue: 3 p333-341, 9p
Academic Journal
Chen, Siwei; Francioli, Laurent C.; Goodrich, Julia K.; Collins, Ryan L.; Kanai, Masahiro; Wang, Qingbo; Alfoldi, Jessica; Watts, Nicholas A.; Vittal, Christopher; Gauthier, Laura D.; Poterba, Timothy; Wilson, Michael W.; Tarasova, Yekaterina; Phu, William; Grant, Riley; Yohannes, Mary T.; Koenig, Zan; Farjoun, Yossi; Banks, Eric; Donnelly, Stacey; Gabriel, Stacey; Gupta, Namrata; Ferriera, Steven; Tolonen, Charlotte; Novod, Sam; Bergelson, Louis; Roazen, David; Ruano-Rubio, Valentin; Covarrubias, Miguel; Llanwarne, Christopher; Petrillo, Nikelle; Wade, Gordon; Jeandet, Thibault; Munshi, Ruchi; Tibbetts, Kathleen; O'Donnell-Luria, Anne; Solomonson, Matthew; Seed, Cotton; Martin, Alicia R.; Talkowski, Michael E.; Rehm, Heidi L.; Daly, Mark J.; Tiao, Grace; Neale, Benjamin M.; MacArthur, Daniel G.; Karczewski, Konrad J.; Abreu, Maria; Aguilar Salinas, Carlos A.; Ahmad, Tariq; Albert, Christine M.; Ardissino, Diego; Armean, Irina M.; Atkinson, Elizabeth G.; Atzmon, Gil; Barnard, John; Baxter, Samantha M.; Beaugerie, Laurent; Benjamin, Emelia J.; Benjamin, David; Boehnke, Michael; Bonnycastle, Lori L.; Bottinger, Erwin P.; Bowden, Donald W.; Bown, Matthew J.; Brand, Harrison; Brant, Steven; Brookings, Ted; Bryant, Sam; Calvo, Sarah E.; Campos, Hannia; Chambers, John C.; Chan, Juliana C.; Chao, Katherine R.; Chapman, Sinead; Chasman, Daniel I.; Chisholm, Rex; Cho, Judy; Chowdhury, Rajiv; Chung, Mina K.; Chung, Wendy K.; Cibulskis, Kristian; Cohen, Bruce; Connolly, Kristen M.; Correa, Adolfo; Cummings, Beryl B.; Dabelea, Dana; Danesh, John; Darbar, Dawood; Darnowsky, Phil; Denny, Joshua; Duggirala, Ravindranath; Dupuis, Josee; Ellinor, Patrick T.; Elosua, Roberto; Emery, James; England, Eleina; Erdmann, Jeanette; Esko, Tonu; Evangelista, Emily; Fatkin, Diane; Florez, Jose; Franke, Andre; Fu, Jack; Farkkila, Martti; Garimella, Kiran; Gentry, Jeff; Getz, Gad; Glahn, David C.; Glaser, Benjamin; Glatt, Stephen J.; Goldstein, David; Gonzalez, Clicerio; Groop, Leif; Gudmundsson, Sanna; Haessly, Andrea; Haiman, Christopher; Hall, Ira; Hanis, Craig L.; Harms, Matthew; Hiltunen, Mikko; Holi, Matti M.; Hultman, Christina M.; Jalas, Chaim; Kallela, Mikko; Kaplan, Diane; Kaprio, Jaakko; Kathiresan, Sekar; Kenny, Eimear E.; Kim, Bong-Jo; Kim, Young Jin; King, Daniel; Kirov, George; Kooner, Jaspal; Koskinen, Seppo; Krumholz, Harlan M.; Kugathasan, Subra; Kwak, Soo Heon; Laakso, Markku; Lake, Nicole; Langsford, Trevyn; Laricchia, Kristen M.; Lehtimaki, Terho; Lek, Monkol; Lipscomb, Emily; Loos, Ruth J. F.; Lu, Wenhan; Lubitz, Steven A.; Tusie Luna, Teresa; Ma, Ronald C. W.; Marcus, Gregory M.; Marrugat, Jaume; Mattila, Kari M.; McCarroll, Steven; McCarthy, Mark I.; McCauley, Jacob L.; McGovern, Dermot; McPherson, Ruth; Meigs, James B.; Melander, Olle; Metspalu, Andres; Meyers, Deborah; Minikel, Eric V.; Mitchell, Braxton D.; Mootha, Vamsi K.; Naheed, Aliya; Nazarian, Saman; Nilsson, Peter M.; O'Donovan, Michael C.; Okada, Yukinori; Ongur, Dost; Orozco, Lorena; Owen, Michael J.; Palmer, Colin; Palmer, Nicholette D.; Palotie, Aarno; Park, Kyong Soo; Pato, Carlos; Pulver, Ann E.; Rader, Dan; Rahman, Nazneen; Reiner, Alex; Remes, Anne M.; Rhodes, Dan; Rich, Stephen; Rioux, John D.; Ripatti, Samuli; Roden, Dan M.; Rotter, Jerome I.; Sahakian, Nareh; Saleheen, Danish; Salomaa, Veikko; Saltzman, Andrea; Samani, Nilesh J.; Samocha, Kaitlin E.; Sanchis-Juan, Alba; Scharf, Jeremiah; Schleicher, Molly; Schunkert, Heribert; Schoenherr, Sebastian; Seaby, Eleanor G.; Shah, Svati H.; Shand, Megan; Sharpe, Ted; Shoemaker, Moore B.; Shyong, Tai; Silverman, Edwin K.; Singer-Berk, Moriel; Sklar, Pamela; Smith, Jonathan T.; Smith, J. Gustav; Soininen, Hilkka; Sokol, Harry; Son, Rachel G.; Soto, Jose; Spector, Tim; Stevens, Christine; Stitziel, Nathan O.; Sullivan, Patrick F.; Suvisaari, Jaana; Tai, E. Shyong; Taylor, Kent D.; Teo, Yik Ying; Tsuang, Ming; Tuomi, Tiinamaija; Turner, Dan; Tusie-Luna, Teresa; Vartiainen, Erkki; Vawter, Marquis; Wang, Lily; Wang, Arcturus; Ware, James S.; Watkins, Hugh; Weersma, Rinse K.; Weisburd, Ben; Wessman, Maija; Whiffin, Nicola; Wilson, James G.; Xavier, Ramnik J.; Genome Aggregation Database
Academic Journal
Johansson, Josefin; Lideus, Sarah; Frykholm, Carina; Gunnarsson, Cecilia; Mihalic, Filip; Gudmundsson, Sanna; Ekvall, Sara; Molin, Anna-Maja; Pham, Mai; Vihinen, Mauno; Lagerstedt-Robinson, Kristina; Nordgren, Ann; Jemth, Per; Ameur, Adam; Anneren, Goeran; Wilbe, Maria; Bondeson, Marie-Louise
Academic Journal
Human Genetics. :1-5
Johansson, Josefin; Frykholm, Carina; Ericson, Katharina; Kazamia, Kalliopi; Lindberg, Amanda; Mulaiese, Nancy; Falck, Geir; Gustafsson, Per-Erik; Lidéus, Sarah; Gudmundsson, Sanna; Ameur, Adam; Bondeson, Marie-Louise, 1960; Wilbe, Maria
American Journal of Medical Genetics. Part A. 188(6):1676-1687
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