학술논문
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'학술논문'
에서 검색결과 570건 | 목록
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Academic Journal
Takayasu Mori; Takuya Fujimaru; Chunyu Liu; Karynne Patterson; Kouhei Yamamoto; Takefumi Suzuki; Motoko Chiga; Akinari Sekine; Yoshifumi Ubara; Danny E. Miller; Miranda P.G. Zalusky; Shintaro Mandai; Fumiaki Ando; Yutaro Mori; Hiroaki Kikuchi; Koichiro Susa; Jessica X. Chong; Michael J. Bamshad; Yue-Qiu Tan; Feng Zhang; Shinichi Uchida; Eisei Sohara; Chia-Lin Wei; Evan E. Eichler; Kailyn Anderson; Peter Anderson; Tamara J. Bacus; Sabrina Best; Elizabeth E. Blue; Katherine Brower; Kati J. Buckingham; Brianne Carroll; Silvia Casadei; Nikhita Damaraju; Colleen P. Davis; Christian D. Frazar; Sophia Gibson; Joy Goffena; William W. Gordon; Jonas A. Gustafson; William T. Harvey; Martha Horike-Pyne; Jameson R. Hurless; Caitlin Jacques; Gail P. Jarvik; Eric Johanson; J. Thomas Kolar; Xiaomeng Liu; Colby T. Marvin; Sean McGee; Holli Meyers; Patrick M. Nielsen; Aparna Radhakrishnan; Matthew A. Richardson; Erica L. Ryke; Aliya Sarkytbayeva; Tristan Shaffer; Kathryn M. Shively; Olivia M. Sommers; Sophie H.R. Storz; Joshua D. Smith; Lea M. Starita; Monica Tackettl; Sydney A. Ward; Jeffrey M. Weiss; Qian Yi; Heather Mefford
Kidney Int Rep
Kidney International Reports, Vol 9, Iss 12, Pp 3580-3591 (2024)
Kidney International Reports, Vol 9, Iss 12, Pp 3580-3591 (2024)
Academic Journal
Dawood, Moez; Heavner, Ben; Wheeler, Marsha M.; Ungar, Rachel A.; LoTempio, Jonathan; Wiel, Laurens; Berger, Seth; Bernstein, Jonathan A.; Chong, Jessica X.; Délot, Emmanuèle C.; Eichler, Evan E.; Lupski, James R.; Shojaie, Ali; Talkowski, Michael E.; Wagner, Alex H.; Wei, Chia-Lin; Wellington, Christopher; Wheeler, Matthew T.; Carvalho, Claudia M. B.; Gibbs, Richard A.; Gifford, Casey A.; May, Susanne; Miller, Danny E.; Rehm, Heidi L.; Samocha, Kaitlin E.; Sedlazeck, Fritz J.; Vilain, Eric; O’Donnell-Luria, Anne; Posey, Jennifer E.; Chadwick, Lisa H.; Bamshad, Michael J.; Montgomery, Stephen B.
Nature: International weekly journal of science. 647(8089):331-342
Report
Dawood, Moez; Heavner, Ben; Wheeler, Marsha M.; Ungar, Rachel A.; LoTempio, Jonathan; Wiel, Laurens; Berger, Seth; Bernstein, Jonathan A.; Chong, Jessica X.; Délot, Emmanuèle C.; Eichler, Evan E.; Gibbs, Richard A.; Lupski, James R.; Shojaie, Ali; Talkowski, Michael E.; Wagner, Alex H.; Wei, Chia-Lin; Wellington, Christopher; Wheeler, Matthew T.; Members, GREGoR Partner; Carvalho, Claudia M. B.; Gifford, Casey A.; May, Susanne; Miller, Danny E.; Rehm, Heidi L.; Sedlazeck, Fritz J.; Vilain, Eric; O'Donnell-Luria, Anne; Posey, Jennifer E.; Chadwick, Lisa H.; Bamshad, Michael J.; Montgomery, Stephen B.; Diseases, Genomics Research to Elucidate the Genetics of Rare; Consortium
Academic Journal
Murdock, David R.; Guo, Dong-chuan; DePaolo, John S.; Schwarze, Ulrike; Duan, Xue-yan; Cecchi, Alana C.; Marin, Isabella C.; Tang, YingYing; Chong, Jessica X.; Bamshad, Michael J.; Leppig, Kathleen A.; Byers, Peter H.; Damrauer, Scott M.; Milewicz, Dianna M.
npj Genomic Medicine. 10(1)
Academic Journal
Andrew X. Zhu; Alexander R. Abbas; Marina Ruiz De Galarreta; Yinghui Guan; Shan Lu; Hartmut Koeppen; Wenjun Zhang; Chih-hung Hsu; Aiwu Ruth He; Baek-yeol Ryoo; Thomas Yau; Ahmed O. Kaseb; Adam M. Burgoyne; Farshid Dayyani; Jessica Spahn; Wendy Verret; Richard S. Finn; Han Chong Toh; Amaia Lujambio; Yulei Wang
Single Topic Symposium (STS). Sep 21, 2024 2024(2):1
Academic Journal
Groza, Tudor; Marcello, Allison J.; Carlisle, Tristan; Lim, Weng Khong; Haendel, Melissa; Karnani, Neerja; Robinson, Peter N.; Graessner, Holm; Chong, Jessica X.; Baynam, Gareth; Jamuar, Saumya Shekhar
Human Genetics and Genomics Advances. 7(1)
Academic Journal
Iyengar, Apoorva K.; Zou, Xue; Dai, Jian; Francis, Rhodricia A.; Safi, Alexias; Patterson, Karynne; Koch, Rebecca L.; Clarke, Shannon; Beaman, M. Makenzie; Mohan, Shruthi; Chong, Jessica X.; Bamshad, Michael J.; Majoros, William H.; Rehder, R. Catherine; Bali, Deeksha S.; Allen, Andrew S.; Crawford, Gregory E.; Kishnani, Priya S.; Reddy, Timothy E.
Genetics in Medicine Open. 4
Academic Journal
Takayasu Mori; Takuya Fujimaru; Chunyu Liu; Karynne Patterson; Kouhei Yamamoto; Takefumi Suzuki; Motoko Chiga; Akinari Sekine; Yoshifumi Ubara; Danny E Miller; Miranda Galey; Shintaro Mandai; Fumiaki Ando; Yutaro Mori; Hiroaki Kikuchi; Koichiro Susa; Jessica X Chong; Michael J Bamshad; Yue-Qiu Tan; Feng Zhang; Shinichi Uchida; Eisei Sohara
medRxiv
Academic Journal
Rekerle, Lauren ; Danis, Daniel ; Rehburg, Filip ; Graefe, Adam S.L. ; Bily, Viktor ; Caballero-Oteyza, Andrés ; Cacheiro, Pilar ; Chimirri, Leonardo ; Chong, Jessica X. ; Connelly, Evan ; de Vries, Bert B.A. ; Dingemans, Alexander J.M. ; Duyzend, Michael H. ; Freiberger, Tomas ; Gehle, Petra ; Groza, Tudor ; Hansen, Peter ; Jacobsen, Julius O.B. ; Klocperk, Adam ; Ladewig, Markus S. ; Love, Michael I. ; Marcello, Allison J. ; Mordhorst, Alexander ; Munoz-Torres, Monica C. ; Reese, Justin ; Schuetz, Catharina ; Smedley, Damian ; Strauss, Timmy ; Vladyka, Ondrej ; Zocche, David ; Thun, Sylvia ; Mungall, Christopher J. ; Haendel, Melissa A. ; Robinson, Peter N.
In The American Journal of Human Genetics 8 January 2026 113(1):57-70
Academic Journal
Yu, Joon-Ho; MacDuffie, Katherine E.; Sommerland, Olivia; Theoryn, Tesla; Murali, Priyanka; Anderson, Kailyn; Sikes, Megan; Kruidenier, Lukas; Gildersleeve, Heidi I.S.; Scott, Abbey; Buckingham, Kati J.; McWalter, Kirsty; Kruszka, Paul; Keefe, Alexandra C.; Chong, Jessica X.; Veenstra, David L.; Dipple, Katrina M.; Wenger, Tara; Doherty, Dan; Bamshad, Michael J.
Human Genetics and Genomics Advances. 6(4)
Academic Journal
Tara L. Wenger; Abbey Scott; Lukas Kruidenier; Megan Sikes; Alexandra Keefe; Kati J. Buckingham; Colby T. Marvin; Kathryn M. Shively; Tamara Bacus; Olivia M. Sommerland; Kailyn Anderson; Heidi Gildersleeve; Chayna J. Davis; Jamie Love-Nichols; Katherine E. MacDuffie; Danny E. Miller; Joon-Ho Yu; Amy Snook; Britt Johnson; David L. Veenstra; Julia Parish-Morris; Kirsty McWalter; Kyle Retterer; Deborah Copenheaver; Bethany Friedman; Jane Juusola; Erin Ryan; Renee Varga; Daniel A. Doherty; Katrina Dipple; Jessica X. Chong; Paul Kruszka; Michael J. Bamshad
Am J Hum Genet
Academic Journal
Hua Ling; Karen S. Raraigh; Elizabeth W. Pugh; Melis A. Aksit; Peng Zhang; Rhonda G. Pace; Anna V. Faino; Michael J. Bamshad; Ronald L. Gibson; Wanda O’Neal; Michael R. Knowles; Scott M. Blackman; Garry R. Cutting; Elizabeth Blue; Kati Buckingham; Jessica X. Chong; J. Michael Collaco; Hong Dang; Alice Eastman; Anna Faino; Paul J. Gallins; Ronald Gibson; Beth Godwin; William W. Gordon; Kurt Hetrick; Le Huang; Anh-Thu N. Lam; Weifang Liu; Yun Li; Frankline Onchiri; Wanda K. O'Neal; Kymberleigh Pagel; Mark Porter; Elizabeth Pugh; Rebekah Mikeasky; Margaret Rosenfeld; Jonathan Rosen; Adrienne Stilp; Jaclyn R. Stonebraker; Quan Sun; Jia Wen; Fred A. Wright; Yingxi Yang; Yi-Hui Zhou
The American Journal of Human Genetics. 111:2203-2218
Academic Journal
Francesca Furia; Amanda M. Levy; Miel Theunis; Michael J. Bamshad; Meghan N. Bartos; Emilia K. Bijlsma; Francesco Brancati; Lucile Cejudo; Jessica X. Chong; Chiara De Luca; Sarah Joy Dean; Alena Egense; Himanshu Goel; Adam J. Guenzel; Ulrike Hüffmeier; Eric Legius; Grazia M. S. Mancini; Iñigo Marcos‐Alcalde; Tanguy Niclass; Marc Planes; Sylvia Redon; David Ros‐Pardo; Karen Rouault; Rachel Schot; Sarah Schuhmann; Joseph J. Shen; Alice M. Tao; Isabelle Thiffault; Hilde Van Esch; Ingrid M. Wentzensen; Tahsin Stefan Barakat; Rikke S. Møller; Paulino Gomez‐Puertas; Wendy K. Chung; Elena Gardella; Zeynep Tümer
Digital.CSIC. Repositorio Institucional del CSIC
Consejo Superior de Investigaciones Científicas (CSIC)
Furia, F, Levy, A M, Theunis, M, Bamshad, M J, Bartos, M N, Bijlsma, E K, Brancati, F, Cejudo, L,Chong , J X , De Luca, C, Dean, S J, Egense, A, Goel, H, Guenzel, A J, Hüffmeier, U, Legius, E, Mancini, G M S, Marcos-Alcalde, I, Niclass, T, Planes, M, Redon, S, Ros-Pardo, D, Rouault, K, Schot, R, Schuhmann, S, Shen, J J, Tao, A M, Thiffault, I, Van Esch, H, Wentzensen, I M, Barakat, T S, Møller, R S, Gomez-Puertas, P, Chung, W K, Gardella, E & Tümer, Z 2024, ' The phenotypic and genotypic spectrum of individuals with mono-or biallelic ANK3 variants ', Clinical Genetics, vol. 106, no. 5, pp. 574-584 . https://doi.org/10.1111/cge.14587
Consejo Superior de Investigaciones Científicas (CSIC)
Furia, F, Levy, A M, Theunis, M, Bamshad, M J, Bartos, M N, Bijlsma, E K, Brancati, F, Cejudo, L,
Academic Journal
Tonia C. Carter; Denise M. Kay; Faith Pangilinan; Lynn M. Almli; Mary M. Jenkins; Elizabeth E. Blue; Pagna Sok; Janson J. White; Christopher M. Cunniff; A. J. Agopian; Michael J. Bamshad; Lorenzo D. Botto; Lawrence C. Brody; Muge Gucsavas‐Calikoglu; Jessica X. Chong; Horacio Gomez‐Acevedo; Philip J. Lupo; Cynthia A. Moore; Wendy N. Nembhard; Richard S. Olney; Andrew F. Olshan; Mohammed S. Orloff; Jennita Reefhuis; Paul A. Romitti; Gary M. Shaw; Martha M. Werler; Mahsa M. Yazdy; Marilyn L. Browne; Meredith M. Howley
Birth Defects Research. 117
Report
Wojcik, Monica H.; Reuter, Chloe M.; Marwaha, Shruti; Mahmoud, Medhat; Duyzend, Michael H.; Barseghyan, Hayk; Yuan, Bo; Boone, Philip M.; Groopman, Emily E.; Délot, Emmanuèle C.; Jain, Deepti; Sanchis-Juan, Alba; Diseases, Genomics Research to Elucidate the Genetics of Rare; Consortium; Starita, Lea M.; Talkowski, Michael; Montgomery, Stephen B.; Bamshad, Michael J.; Chong, Jessica X.; Wheeler, Matthew T.; Berger, Seth I.; O'Donnell-Luria, Anne; Sedlazeck, Fritz J.; Miller, Danny E.
Academic Journal
Ampuja, Minna; Ericsson, Sabina; Paatero, Ilkka; Chowdhury, Iftekhar; Villman, Jenna; Broberg, Martin; Ramste, Amanda; Balboa, Diego; Ojala, Tiina; Chong, Jessica X.; Bamshad, Michael J.; Priest, James R.; Varjosalo, Markku; Kivelä, Riikka; Helle, Emmi
Human Genetics and Genomics Advances. 6(3)
Academic Journal
Apoorva K. Iyengar; Xue Zou; Jian Dai; Rhodricia A. Francis; Alexias Safi; Karynne Patterson; Rebecca L. Koch; Shannon Clarke; M. Makenzie Beaman; Jessica X. Chong; Michael J. Bamshad; William H. Majoros; R. Catherine Rehder; Deeksha S. Bali; Andrew S. Allen; Gregory E. Crawford; Priya S. Kishnani; Timothy E. Reddy
bioRxiv
Academic Journal
Lauren Rekerle; Daniel Danis; Filip Rehburg; Adam SL Graefe; Viktor Bily; Andrés Caballero-Oteyza; Pilar Cacheiro; Leonardo Chimirri; Jessica X Chong; Evan Connelly; Bert BA de Vries; Alexander JM Dingemans; Michael H Duyzend; Tomas Freiberger; Petra Gehle; Tudor Groza; Peter Hansen; Julius O.B. Jacobsen; Adam Klocperk; Markus S Ladewig; Michael I Love; Allison J Marcello; Alexander Mordhorst; Monica C Munoz-Torres; Justin Reese; Catharina Schütz; Damian Smedley; Timmy Strauss; Ondrej Vladyka; David Zocche; Sylvia Thun; Christopher J Mungall; Melissa A Haendel; Peter N Robinson
medRxiv
Academic Journal
Helmut Grasberger; Alexandra M. Dumitrescu; Xiao-Hui Liao; Elliott G. Swanson; Roy E. Weiss; Panudda Srichomkwun; Theodora Pappa; Junfeng Chen; Takashi Yoshimura; Phillip Hoffmann; Monica Malheiros França; Rebecca Tagett; Kazumichi Onigata; Sabine Costagliola; Jane Ranchalis; Mitchell R. Vollger; Andrew B. Stergachis; Jessica X. Chong; Michael J. Bamshad; Guillaume Smits; Gilbert Vassart; Samuel Refetoff
Nature Genetics. 56:877-888
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 ; Brand, Harrison ; Buckingham, Kati ; Calame, Daniel ; Carter, Jennefer ; 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 ; Delot, Emmanuele ; DiTroia, Stephanie ; Doddapaneni, Harsha ; Du, Haowei ; Duan, Ruizhi ; Dugan-Perez, Shannon ; Duong, Nhat ; Duyzend, Michael ; Eichler, Evan ; Emami, Sara ; Fraser, Jamie ; Fusaro, Vincent ; Galey, Miranda ; Ganesh, Vijay ; Garcia, Brandon ; Garimella, Kiran ; Gibbs, Richard ; Gifford, Casey ; Ginsburg, Amy ; Goddard, Page ; Gogarten, Stephanie ; Gogate, Nikhita ; Gordon, William ; Gorzynski, John E. ; Greenleaf, William ; Grochowski, Christopher ; Groopman, Emily ; Sousa, Rodrigo Guarischi ; Gudmundsson, Sanna ; Gulati, Ashima ; Hall, Stacey ; Harvey, William ; Hawley, Megan ; Heavner, Ben ; 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 ; Kundaje, Anshul ; Kundu, Soumya ; Lancaster, Samuel M. ; Larsson, Katie ; Lee, Arthur ; Lemire, Gabrielle ; Lewis, Richard ; Li, Wei ; Li, Yidan ; Liu, Pengfei ; LoTempio, Jonathan ; Lupski, James (Jim) ; Ma, Jialan ; MacArthur, Daniel ; Mahmoud, Medhat ; Malani, Nirav ; Mangilog, Brian ; Marafi, Dana ; Marmolejos, Sofia ; Marten, Daniel ; Martinez, Eva ; Marvin, Colby ; Marwaha, Shruti ; Mastrorosa, Francesco Kumara ; Matalon, Dena ; May, Susanne ; McGee, Sean ; Meador, Lauren ; Mefford, Heather ; Mendez, Hector Rodrigo ; Miller, Alexander ; Miller, Danny E. ; Mitani, Tadahiro ; Montgomery, Stephen ; Moyses, Mariana ; Munderloh, Chloe ; Muzny, Donna ; Nelson, Sarah ; Nguyen, Thuy-mi P. ; Nguyen, Jonathan ; 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`Sara ; Ponce, Sarah ; Porter, Elizabeth ; 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, Evette ; Scott, Stuart ; Sedlazeck, Fritz ; Shah, Gulalai ; Shojaie, Ali ; Singh, Mugdha ; Smith, Kevin ; Smith, Josh ; Snow, Hana ; Snyder, Michael ; Socarras, Kayla ; Starita, Lea ; Stark, Brigitte ; Stenton, Sarah ; Stergachis, Andrew ; Stilp, Adrienne ; Sutton, V. Reid ; Tai, Jui-Cheng ; Talkowski, Michael (Mike) ; Tise, Christina ; Tong, Catherine (Cat) ; Tsao, Philip ; Ungar, Rachel ; VanNoy, Grace ; Vilain, Eric ; Voutos, Isabella ; Walker, Kim ; Wei, Chia-Lin ; Weisburd, Ben ; Weiss, Jeff ; Wellington, Chris ; Weng, Ziming ; Westheimer, Emily ; Wheeler, Marsha ; Wheeler, Matthew ; Wiel, Laurens ; Wilson, Michael ; Wojcik, Monica ; Wong, Quenna ; Xiao, Changrui ; Yadav, Rachita ; Yi, Qian ; Yuan, Bo ; Zhao, Jianhua ; Zhen, Jimmy ; Zhou, Harry ; Chong, Jessica X. ; Berger, Seth I. ; Smith, Erica ; Calame, Daniel G. ; Hawley, Megan H. ; Rivera-Munoz, E. Andres ; Bamshad, Michael J. ; Rehm, Heidi L.
In Genetics in Medicine October 2024 26(10)
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