日期:
2020 年 — 2026 年
2020
2021
2022
2023
2024
2025
2026
影响因子:

Genetic Variation and Ultrafiltration with Peritoneal Dialysis: A Genome-Wide Association Study

遗传变异与腹膜透析超滤:一项全基因组关联研究

Stanaway, Ian B; Costa, Ines P D; Davies, Simon J; Perl, Jeffrey; Lambie, Mark; Morelle, Johann; Jarvik, Gail P; Jain, Arsh K; Himmelfarb, Jonathan; Heimburger, Olof; Johnson, David W; Pirkle, James; Robinson, Bruce; Stenvinkel, Peter; Yee-Moon Wang, Angela; Devuyst, Olivier; Mehrotra, Rajnish

Return of genome-informed risk-assessment results for common conditions to 23,840 adults and children: An eMERGE network study

向 23,840 名成人和儿童反馈常见疾病的基因组信息风险评估结果:一项 eMERGE 网络研究

Lawson, Lucinda P; Prows, Cynthia A; Cortopassi, Josh; Davis, Kyle W; Head, Madilyn; Martin, Lisa J; Perez, Emma F; Sobowale, Agboade; Abul-Husn, Noura S; Bangash, Hana; Bland, Harris T; Bonini, Katherine E; Chisholm, Rex L; Chung, Wendy K; Cimino, James J; Connolly, John J; Crosslin, David R; Freimuth, Robert R; Goff, Blake; Gordon, Adam S; Hakonarson, Hakon; Harr, Margaret H; Henricks, Emma; Hernandez, Valentina; Hoell, Christin; Holm, Ingrid A; Hripcsak, George; Karlson, Elizabeth W; Kenny, Eimear E; Khan, Atlas; Kiryluk, Krzysztof; Kottyan, Leah C; Lennon, Niall J; Limdi, Nita; Linder, Jodell E; Liu, Cong; Manolio, Teri A; Maradik, Mary A; Marathe, Priya N; Maripuri, Devi P; McNally, Elizabeth M; Murphy, Shawn N; Naderian, Mohammadreza; Namjou, Bahram; Odgis, Jacqueline A; Peterson, Josh F; Pineda-Alvarez, Daniel E; Puckelwartz, Megan; Purcell, Jasmine; Rasmussen-Torvik, Laura J; Roden, Dan M; Rosenthal, Elisabeth A; Rowley, Robb; Sabatello, Maya; Scherr, Courtney L; Shaibi, Gabriel Q; Sharp, Richard R; Smoller, Jordan W; Sterling, Rene; Suckiel, Sabrina A; Terek, Shannon; Ting, Yi-Lee; Velez Edwards, Digna R; Walunas, Theresa L; Wei, Wei-Qi; Weng, Chunhua; Wiesner, Georgia L; Xian, Su; Jarvik, Gail P; Kullo, Iftikhar

The Electronic Medical Records and Genomics study: Design and analytic framework for assessing the impact of genome-informed risk assessments

电子病历与基因组学研究:评估基因组信息风险评估影响的设计和分析框架

Limdi, Nita; Beasley, T Mark; Cortopassi, Josh; Davis, Brittney; Bangash, Hana; Chen, Jingheng; Chisholm, Rex L; Chung, Wendy K; Cimino, James J; Connolly, John; Crosslin, David R; Davis, Kyle W; DiVietro, Alanna; Esplin, Edward D; Freimuth, Bob; Gordon, Adam; Hakonarson, Hakon; Hamed, Marwan; He, Megan; Hoell, Christin; Holm, Ingrid; Hripscak, George; Irvin, Margurite R; Jarvik, Gail P; Karavite, Dean; Karlson, Elizabeth W; Kenny, Eimear E; Khan, Atlas; Kiryluk, Krzysztof; Knerr, Sarah; Korf, Bruce; Kottyan, Leah; Kullo, Iftikhar; Larkin, Katie; Lennon, Niall; Linder, Jodell E; Manolio, Teri; Martin, Lisa J; McNally, Elizabeth M; Morse, Jennifer; Murphy, Shawn; Namjou, Bahram; Odgis, Jacqueline A; Orlando, Lori; Pacheco, Jennifer; Peterson, Josh F; Pineda-Alvarez, Daniel E; Prows, Cindy; Puckelwartz, Megan; Purcell, Jasmine; Rasmussen-Torvik, Laura; Rehm, Heidi; Roden, Dan M; Rosenthal, Elisabeth A; Rowley, Robb; Sabatello, Maya; Schaid, Daniel; Sharp, Richard; Smith, Johanna L; Smoller, Jordan W; Soper, Emily R; Sterling, Rene; Suckiel, Sabrina A; Terek, Shannon; Thayer, Jeritt; Ting, Yi-Lee; Tiwari, Hemant; Velez-Edwards, Digna; Wagholikar, Kavishwar B; Walunas, Theresa; Wei, Wei-Qi; Weng, Chunua; Wiesner, Georgia; Abul-Husn, Noura S; Veenstra, David L

MyGeneRisk Colon: A Web-Based Tool for Personalized Colorectal Cancer Risk Prediction Based on Genetics and Lifestyle

MyGeneRisk Colon:一款基于遗传学和生活方式的个性化结直肠癌风险预测网络工具

Zheng, Jiayin; Steinfelder, Robert S; Yin, Hang; Qu, Conghui; Thomas, Minta; Thomas, Sushma S; Andrews, Cynthia; Augusto, Bianca; Corley, Douglas C; Lee, Jeffrey K; Berndt, Sonja I; Chan, Andrew T; Chanock, Stephen J; Gignoux, Chris; Goldberg, Shauna R; Haiman, Christopher A; Huyghe, Jeroen R; Iwasaki, Motoki; Le Marchand, Loic; Lee, Soo Chin; Melendez, Johana; Mesa, Ivan; Ogino, Shuji; Sifontes, Viviam; Um, Caroline Y; Visvanathan, Kala; White, Larissa L; Williams, Andrea; Willis, Waverly; Wolk, Alicja; Yamaji, Taiki; Vadaparampil, Susan T; Jarvik, Gail P; Burnett-Hartman, Andrea N; Milne, Roger L; Platz, Elizabeth A; Figueiredo, Jane C; Zheng, Wei; MacInnis, Robert J; Palmer, Julie R; Schmit, Stephanie L; Landorp-Vogelaar, Iris; Peters, Ulrike; Hsu, Li

High-Performance Prompting for LLM Extraction of Compression Fracture Findings from Radiology Reports

高效提示技术在放射学报告中提取压缩性骨折发现

Kanani, Mohammed M; Monawer, Arezu; Brown, Lauryn; King, William E 3rd; Miller, Zachary D; Venugopal, Nitin; Heagerty, Patrick J; Jarvik, Jeffrey G; Cohen, Trevor; Cross, Nathan M

Synchronized long-read genome, methylome, epigenome and transcriptome profiling resolve a Mendelian condition.

同步长读长基因组、甲基化组、表观基因组和转录组分析揭示了孟德尔遗传病的成因

Vollger Mitchell R, Korlach Jonas, Eldred Kiara C, Swanson Elliott, Underwood Jason G, Bohaczuk Stephanie C, Mao Yizi, Cheng Yong-Han H, Ranchalis Jane, Blue Elizabeth E, Schwarze Ulrike, Munson Katherine M, Saunders Christopher T, Wenger Aaron M, Allworth Aimee, Chanprasert Sirisak, Duerden Brittney L, Glass Ian, Horike-Pyne Martha, Kim Michelle, Leppig Kathleen A, McLaughlin Ian J, Ogawa Jessica, Rosenthal Elisabeth A, Sheppeard Sam, Sherman Stephanie M, Strohbehn Samuel, Yuen Amy L, Stacey Andrew W, Reh Thomas A, Byers Peter H, Bamshad Michael J, Hisama Fuki M, Jarvik Gail P, Sancak Yasemin, Dipple Katrina M, Stergachis Andrew B

Multi-ancestry meta-analysis of keloids uncovers novel susceptibility loci in diverse populations

一项针对瘢痕疙瘩的多民族荟萃分析揭示了不同人群中新的易感基因位点

Greene, Catherine A; Hampton, Gabrielle; Jaworski, James; Shuey, Megan M; Khan, Atlas; Luo, Yuan; Jarvik, Gail P; Namjou-Khales, Bahram; Edwards, Todd L; Velez Edwards, Digna R; Hellwege, Jacklyn N

Transformer patient embedding using electronic health records enables patient stratification and progression analysis

利用电子健康记录进行Transformer患者嵌入,可以实现患者分层和病情进展分析。

Xian, Su; Grabowska, Monika E; Kullo, Iftikhar J; Luo, Yuan; Smoller, Jordan W; Walunas, Theresa L; Wei, Wei-Qi; Jarvik, Gail P; Mooney, Sean D; Crosslin, David R

Multi-ancestry genome-wide meta-analysis of 56,241 individuals identifies known and novel cross-population and ancestry-specific associations as novel risk loci for Alzheimer's disease

一项包含56241名个体的多族裔全基因组荟萃分析,发现了已知的和新的跨人群及族裔特异性关联,这些关联被认为是阿尔茨海默病的新风险位点。

Rajabli, Farid; Benchek, Penelope; Tosto, Giuseppe; Kushch, Nicholas; Sha, Jin; Bazemore, Katrina; Zhu, Congcong; Lee, Wan-Ping; Haut, Jacob; Hamilton-Nelson, Kara L; Wheeler, Nicholas R; Zhao, Yi; Farrell, John J; Grunin, Michelle A; Leung, Yuk Yee; Kuksa, Pavel P; Li, Donghe; da Fonseca, Eder Lucio; Mez, Jesse B; Palmer, Ellen L; Pillai, Jagan; Sherva, Richard M; Song, Yeunjoo E; Zhang, Xiaoling; Ikeuchi, Takeshi; Iqbal, Taha; Pathak, Omkar; Valladares, Otto; Reyes-Dumeyer, Dolly; Kuzma, Amanda B; Abner, Erin; Adams, Larry D; Adams, Perrie M; Aguirre, Alyssa; Albert, Marilyn S; Albin, Roger L; Allen, Mariet; Alvarez, Lisa; Apostolova, Liana G; Arnold, Steven E; Asthana, Sanjay; Atwood, Craig S; Auerbach, Sanford; Ayres, Gayle; Baldwin, Clinton T; Barber, Robert C; Barnes, Lisa L; Barral, Sandra; Beach, Thomas G; Becker, James T; Beecham, Gary W; Beekly, Duane; Benitez, Bruno A; Bennett, David; Bertelson, John; Bird, Thomas D; Blacker, Deborah; Boeve, Bradley F; Bowen, James D; Boxer, Adam; Brewer, James; Burke, James R; Burns, Jeffrey M; Buxbaum, Joseph D; Cairns, Nigel J; Cantwell, Laura B; Cao, Chuanhai; Carlson, Christopher S; Carlsson, Cynthia M; Carney, Regina M; Carrasquillo, Minerva M; Chasse, Scott; Chesselet, Marie-Francoise; Chin, Nathaniel A; Chui, Helena C; Chung, Jaeyoon; Craft, Suzanne; Crane, Paul K; Cribbs, David H; Crocco, Elizabeth A; Cruchaga, Carlos; Cuccaro, Michael L; Cullum, Munro; Darby, Eveleen; Davis, Barbara; De Jager, Philip L; DeCarli, Charles; DeToledo, John; Dick, Malcolm; Dickson, Dennis W; Dombroski, Beth A; Doody, Rachelle S; Duara, Ranjan; Ertekin-Taner, NIlüfer; Evans, Denis A; Faber, Kelley M; Fairchild, Thomas J; Fallon, Kenneth B; Fardo, David W; Farlow, Martin R; Fernandez-Hernandez, Victoria; Ferris, Steven; Friedland, Robert P; Foroud, Tatiana M; Frosch, Matthew P; Fulton-Howard, Brian; Galasko, Douglas R; Gamboa, Adriana; Gearing, Marla; Geschwind, Daniel H; Ghetti, Bernardino; Gilbert, John R; Go, Rodney C P; Goate, Alison M; Grabowski, Thomas J; Graff-Radford, Neill R; Green, Robert C; Growdon, John H; Hakonarson, Hakon; Hall, James; Hamilton, Ronald L; Harari, Oscar; Hardy, John; Harrell, Lindy E; Head, Elizabeth; Henderson, Victor W; Hernandez, Michelle; Hohman, Timothy; Honig, Lawrence S; Huebinger, Ryan M; Huentelman, Matthew J; Hulette, Christine M; Hyman, Bradley T; Hynan, Linda S; Ibanez, Laura; Jarvik, Gail P; Jayadev, Suman; Jin, Lee-Way; Johnson, Kim; Johnson, Leigh; Kamboh, M Ilyas; Karydas, Anna M; Katz, Mindy J; Kauwe, John S; Kaye, Jeffrey A; Keene, C Dirk; Khaleeq, Aisha; Kikuchi, Masataka; Kim, Ronald; Knebl, Janice; Kowall, Neil W; Kramer, Joel H; Kukull, Walter A; LaFerla, Frank M; Lah, James J; Larson, Eric B; Lerner, Alan; Leverenz, James B; Levey, Allan I; Lieberman, Andrew P; Lipton, Richard B; Logue, Mark; Lopez, Oscar L; Lunetta, Kathryn L; Lyketsos, Constantine G; Mains, Douglas; Margaret, Flanagan E; Marson, Daniel C; Martin, Eden Rr; Martiniuk, Frank; Mash, Deborah C; Masliah, Eliezer; Massman, Paul; Masurkar, Arjun; McCormick, Wayne C; McCurry, Susan M; McDavid, Andrew N; McDonough, Stefan; McKee, Ann C; Mesulam, Marsel; Miller, Bruce L; Miller, Carol A; Miller, Joshua W; Montine, Thomas J; Monuki, Edwin S; Morris, John C; Mukherjee, Shubhabrata; Myers, Amanda J; Nguyen, Trung; Obisesan, Thomas; O'Bryant, Sid; Olichney, John M; Ory, Marcia; Palmer, Raymond; Parisi, Joseph E; Paulson, Henry L; Pavlik, Valory; Paydarfar, David; Perez, Victoria; Peskind, Elaine; Petersen, Ronald C; Petrovitch, Helen; Pierce, Aimee; Polk, Marsha; Poon, Wayne W; Potter, Huntington; Qu, Liming; Quiceno, Mary; Quinn, Joseph F; Raj, Ashok; Raskind, Murray; Reiman, Eric M; Reisberg, Barry; Reisch, Joan S; Ringman, John M; Roberson, Erik D; Rodriguear, Monica; Rogaeva, Ekaterina; Rosen, Howard J; Rosenberg, Roger N; Royall, Donald R; Sabbagh, Marwan; Sadovnick, A Dessa; Sager, Mark A; Sano, Mary; Saykin, Andrew J; Schneider, Julie A; Schneider, Lon S; Seeley, William W; Slifer, Susan H; Small, Scott; Smith, Amanda G; Smith, Janet P; Sonnen, Joshua A; Spina, Salvatore; George-Hyslop, Peter St; Starks, Takiyah D; Stern, Robert A; Stevens, Alan B; Strittmatter, Stephen M; Sultzer, David; Swerdlow, Russell H; Tanzi, Rudolph E; Tilson, Jeffrey L; Trojanowski, John Q; Troncoso, Juan C; Tsolaki, Magda; Tsuang, Debby W; Van Deerlin, Vivianna M; van Eldik, Linda J; Vance, Jeffery M; Vardarajan, Badri N; Vassar, Robert; Vinters, Harry V; Vonsattel, Jean-Paul; Weintraub, Sandra; Welsh-Bohmer, Kathleen A; Whitehead, Patrice L; Wijsman, Ellen M; Wilhelmsen, Kirk C; Williams, Benjamin; Williamson, Jennifer; Wilms, Henrik; Wingo, Thomas S; Wisniewski, Thomas; Woltjer, Randall L; Woon, Martin; Wright, Clinton B; Wu, Chuang-Kuo; Younkin, Steven G; Yu, Chang-En; Yu, Lei; Zhu, Xiongwei; Kunkle, Brian W; Bush, William S; Miyashita, Akinori; Byrd, Goldie S; Wang, Li-San; Farrer, Lindsay A; Haines, Jonathan L; Mayeux, Richard; Pericak-Vance, Margaret A; Schellenberg, Gerard D; Jun, Gyungah R; Reitz, Christiane; Naj, Adam C

Risk factors affecting polygenic score performance across diverse cohorts

影响多基因评分在不同人群中表现的风险因素

Hui, Daniel; Dudek, Scott; Kiryluk, Krzysztof; Walunas, Theresa L; Kullo, Iftikhar J; Wei, Wei-Qi; Tiwari, Hemant; Peterson, Josh F; Chung, Wendy K; Davis, Brittney H; Khan, Atlas; Kottyan, Leah C; Limdi, Nita A; Feng, Qiping; Puckelwartz, Megan J; Weng, Chunhua; Smith, Johanna L; Karlson, Elizabeth W; Jarvik, Gail P; Ritchie, Marylyn D