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

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

Imprecision medicine: Systematic gaps in reporting variants of uncertain significance (VUS) and their reclassifications

精准医学:报告意义未明变异(VUS)及其重新分类方面的系统性缺陷

Folta, Andrew; Sedeño Cortés, Adriana E; Gupta, Pankhuri; McEwen, Abbye E; Kao, Eric Y; Horike-Pyne, Martha; Stone, Jeremy; Shirts, Brian H; Dubard-Gault, Marianne E; Fowler, Douglas M; Starita, Lea M; Hisama, Fuki M; Stergachis, Andrew B

Covering medical care costs for participants in the eMERGE Network: Challenges for equity and implementation

为eMERGE网络参与者支付医疗保健费用:公平性和实施方面的挑战

Rasmussen-Torvik, Laura J; Bonini, Katherine E; Harr, Margaret H; Abbass, Mohammad Ali; Bangash, Hana; Bland, Harris T; Boyd, Brenna M; Chung, Wendy K; Clayton, Ellen W; Cohen, Stuart J; Connolly, John J; Gascoigne, Catherine; Hernandez, Valentina; Holm, Ingrid A; Horike-Pyne, Martha; Jarvik, Gail P; Karlson, Elizabeth W; Kullo, Iftikhar J; Limdi, Nita A; Maradik, Mary E; McNally, Elizabeth M; Perez, Emma; Prows, Cynthia A; Shaibi, Gabriel Q; Weng, Chunhua; Rowley, Robb K; Peterson, Josh F; Linder, Jodell E; Sabatello, Maya

Dual diagnosis of UQCRFS1-related mitochondrial complex III deficiency and recessive GJA8-related cataracts

UQCRFS1相关线粒体复合物III缺乏症和隐性GJA8相关白内障的双重诊断

Blue, Elizabeth E; Huang, Samuel J; Khan, Alyna; Golden-Grant, Katie; Boyd, Brenna; Rosenthal, Elisabeth A; Gillentine, Madelyn A; Fleming, Leah R; Adams, David R; Wolfe, Lynne; Allworth, Aimee; Bamshad, Michael J; Caruana, Nikeisha J; Chanprasert, Sirisak; Chen, Jingheng; Dargie, Nitsuh; Doherty, Daniel; Friederich, Marisa W; Hisama, Fuki M; Horike-Pyne, Martha; Lee, Jessica C; Donovan, Tonia E; Hock, Daniella H; Leppig, Kathleen A; Miller, Danny E; Mirzaa, Ghayda; Ranchalis, Jane; Raskind, Wendy H; Michel, Cole R; Reisdorph, Richard; Schwarze, Ulrike; Sheppeard, Sam; Strohbehn, Samuel; Stroud, David A; Sybert, Virginia P; Wener, Mark H; Stergachis, Andrew B; Lam, Christina T; Jarvik, Gail P; Dipple, Katrina M; Van Hove, Johan L K; Glass, Ian A

Assessment of a Peer Physician Coaching Partnership Between a Designated Cancer Center Genetics Service and a Community Cancer Network Hospital

对指定癌症中心遗传服务部门与社区癌症网络医院之间同侪医师辅导合作关系的评估

Santos, Lauren G; Buzdnitskaya, Tatyana; Rolf, Bradley A; Souza, William; Sienko, Mark; Ruiz-Bonilla, Jose Alberto; Shah, Binay; Jewell, Patrick; Jensen, Lindsay; Horike-Pyne, Martha; Elrod, Jo Ann; Crews, Jennie; Laurino, Mercy; Weeks, Kevin Austin; Dubard-Gault, Marianne E

Returning integrated genomic risk and clinical recommendations: The eMERGE study

整合基因组风险和临床建议:eMERGE 研究

Linder, Jodell E; Allworth, Aimee; Bland, Harris T; Caraballo, Pedro J; Chisholm, Rex L; Clayton, Ellen Wright; Crosslin, David R; Dikilitas, Ozan; DiVietro, Alanna; Esplin, Edward D; Forman, Sophie; Freimuth, Robert R; Gordon, Adam S; Green, Richard; Harden, Maegan V; Holm, Ingrid A; Jarvik, Gail P; Karlson, Elizabeth W; Labrecque, Sofia; Lennon, Niall J; Limdi, Nita A; Mittendorf, Kathleen F; Murphy, Shawn N; Orlando, Lori; Prows, Cynthia A; Rasmussen, Luke V; Rasmussen-Torvik, Laura; Rowley, Robb; Sawicki, Konrad Teodor; Schmidlen, Tara; Terek, Shannon; Veenstra, David; Velez Edwards, Digna R; Absher, Devin; Abul-Husn, Noura S; Alsip, Jorge; Bangash, Hana; Beasley, Mark; Below, Jennifer E; Berner, Eta S; Booth, James; Chung, Wendy K; Cimino, James J; Connolly, John; Davis, Patrick; Devine, Beth; Fullerton, Stephanie M; Guiducci, Candace; Habrat, Melissa L; Hain, Heather; Hakonarson, Hakon; Harr, Margaret; Haverfield, Eden; Hernandez, Valentina; Hoell, Christin; Horike-Pyne, Martha; Hripcsak, George; Irvin, Marguerite R; Kachulis, Christopher; Karavite, Dean; Kenny, Eimear E; Khan, Atlas; Kiryluk, Krzysztof; Korf, Bruce; Kottyan, Leah; Kullo, Iftikhar J; Larkin, Katie; Liu, Cong; Malolepsza, Edyta; Manolio, Teri A; May, Thomas; McNally, Elizabeth M; Mentch, Frank; Miller, Alexandra; Mooney, Sean D; Murali, Priyanka; Mutai, Brenda; Muthu, Naveen; Namjou, Bahram; Perez, Emma F; Puckelwartz, Megan J; Rakhra-Burris, Tejinder; Roden, Dan M; Rosenthal, Elisabeth A; Saadatagah, Seyedmohammad; Sabatello, Maya; Schaid, Dan J; Schultz, Baergen; Seabolt, Lynn; Shaibi, Gabriel Q; Sharp, Richard R; Shirts, Brian; Smith, Maureen E; Smoller, Jordan W; Sterling, Rene; Suckiel, Sabrina A; Thayer, Jeritt; Tiwari, Hemant K; Trinidad, Susan B; Walunas, Theresa; Wei, Wei-Qi; Wells, Quinn S; Weng, Chunhua; Wiesner, Georgia L; Wiley, Ken; Peterson, Josh F

Dominant-negative variant in SLC1A4 causes an autosomal dominant epilepsy syndrome

SLC1A4基因的显性负性变异会导致常染色体显性遗传性癫痫综合征。

Pujol-Giménez, Jonai; Mirzaa, Ghayda; Blue, Elizabeth E; Albano, Giuseppe; Miller, Danny E; Allworth, Aimee; Bennett, James T; Byers, Peter H; Chanprasert, Sirisak; Chen, Jingheng; Doherty, Daniel; Folta, Andrew B; Gillentine, Madelyn A; Glass, Ian; Hing, Anne; Horike-Pyne, Martha; Leppig, Kathleen A; Parhin, Azma; Ranchalis, Jane; Raskind, Wendy H; Rosenthal, Elisabeth A; Schwarze, Ulrike; Sheppeard, Sam; Strohbehn, Samuel; Sybert, Virginia P; Timms, Andrew; Wener, Mark; Bamshad, Michael J; Hisama, Fuki M; Jarvik, Gail P; Dipple, Katrina M; Hediger, Matthias A; Stergachis, Andrew B

Full-length Isoform Sequencing for Resolving the Molecular Basis of Charcot-Marie-Tooth 2A

利用全长同工型测序解析夏科-马里-图斯病2A型的分子基础

Stergachis, Andrew B; Blue, Elizabeth E; Gillentine, Madelyn A; Wang, Lee-Kai; Schwarze, Ulrike; Cortés, Adriana Sedeño; Ranchalis, Jane; Allworth, Aimee; Bland, Austin E; Chanprasert, Sirisak; Chen, Jingheng; Doherty, Daniel; Folta, Andrew B; Glass, Ian; Horike-Pyne, Martha; Huang, Alden Y; Khan, Alyna T; Leppig, Kathleen A; Miller, Danny E; Mirzaa, Ghayda; Parhin, Azma; Raskind, Wendy H; Rosenthal, Elisabeth A; Sheppeard, Sam; Strohbehn, Samuel; Sybert, Virginia P; Tran, Thao T; Wener, Mark H; Byers, Peter H H; Nelson, Stanley F; Bamshad, Michael J; Dipple, Katrina M; Jarvik, Gail P; Hoppins, Suzanne; Hisama, Fuki M

Clinical exome sequencing vs. usual care for hereditary colorectal cancer diagnosis: A pilot comparative effectiveness study

临床外显子组测序与常规治疗在遗传性结直肠癌诊断中的比较效果研究:一项初步的比较效果研究

Niu, Xin; Amendola, Laura M; Hart, Ragan; Bennette, Caroline S; Heagerty, Patrick; Horike-Pyne, Martha; Trinidad, Susan B; Rosenthal, Elisabeth A; Comstock, Bryan; Nefcy, Chris; Hisama, Fuki M; Bennett, Robin L; Grady, William M; Gallego, Carlos J; Tarczy-Hornoch, Peter; Fullerton, Stephanie M; Burke, Wylie; Regier, Dean A; Dorschner, Michael O; Shirts, Brian H; Robertson, Peggy D; Nickerson, Deborah A; Patrick, Donald L; Jarvik, Gail P; Veenstra, David L

Is "incidental finding" the best term?: a study of patients' preferences

“偶然发现”是最佳术语吗?:一项关于患者偏好的研究

Tan, Nina; Amendola, Laura M; O'Daniel, Julianne M; Burt, Amber; Horike-Pyne, Martha J; Boshe, Lacey; Henderson, Gail E; Rini, Christine; Roche, Myra I; Hisama, Fuki M; Burke, Wylie; Wilfond, Benjamin; Jarvik, Gail P