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

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

From reactive to proactive: Continuous protein monitoring for preventive health care

从被动应对到主动预防:持续蛋白质监测在预防性医疗保健中的应用

Donnelly, Jane M; Neff, Ryan A; Sedlack, Andrew J H; Juska, Vuslat B; Ayala-Cardona, Luis Fernando; Bass, Joseph; McNally, Elizabeth M; Shah, Sanjiv J; Alshurafa, Nabil; Kimchi, Eyal Y; Budinger, G R Scott; Kelley, Shana O

Common-variant and rare-variant genetic architecture of heart failure across the allele-frequency spectrum

心力衰竭的常见变异和罕见变异遗传结构在等位基因频率谱中的分布

Lee, David S M; Cardone, Kathleen M; Zhang, David Y; Tsao, Noah L; Abramowitz, Sarah; Sharma, Pranav; DePaolo, John S; Conery, Mitchell; Aragam, Krishna G; Biddinger, Kiran; Dikilitas, Ozan; Hoffman-Andrews, Lily; Judy, Renae L; Khan, Atlas; Kullo, Iftikhar J; Puckelwartz, Megan J; Reza, Nosheen; Satterfield, Benjamin A; Singhal, Pankhuri; Arany, Zoltan; Cappola, Thomas P; Carruth, Eric D; Day, Sharlene M; Do, Ron; Haggerty, Christopher M; Joseph, Jacob; McNally, Elizabeth M; Nadkarni, Girish; Owens, Anjali T; Rader, Daniel J; Ritchie, Marylyn D; Sun, Yan V; Voight, Benjamin F; Levin, Michael G; Damrauer, Scott M

Genes Associated With Hypertrophic Cardiomyopathy: A Reappraisal by the ClinGen Hereditary Cardiovascular Disease Gene Curation Expert Panel

与肥厚型心肌病相关的基因:ClinGen遗传性心血管疾病基因注释专家组的重新评估

Hespe, Sophie; Waddell, Amber; Asatryan, Babken; Owens, Emma; Thaxton, Courtney; Adduru, Mhy-Lanie; Anderson, Kailyn; Brown, Emily E; Hoffman-Andrews, Lily; Jordan, Elizabeth; Josephs, Katherine; Mayers, Megan; Peters, Stacey; Stafford, Fergus; Bagnall, Richard D; Bronicki, Lucas; Callewaert, Bert; Chahal, C Anwar A; James, Cynthia A; Jarinova, Olga; Landstrom, Andrew P; McNally, Elizabeth M; Murray, Brittney; Muiño-Mosquera, Laura; Parikh, Victoria; Reuter, Chloe; Walsh, Roddy; Wayburn, Bess; Ware, James S; Ingles, Jodie

Sarcospan protects against LGMD R5 via remodeling of the sarcoglycan complex composition in dystrophic mice

Sarcospan通过重塑肌营养不良小鼠体内的肌聚糖复合物组成来抵抗LGMD R5。

Mokhonova, Ekaterina I; Helzer, Daniel; Malik, Ravinder; Mamsa, Hafsa; Walker, Jackson; Maslanka, Mark; Fleser, Tess S; Afsharinia, Mohammad H; Liu, Shiheng; Holmberg, Johan; Zhou, Z Hong; Deeds, Eric J; Hansen, Kirk C; McNally, Elizabeth M; Crosbie, Rachelle H

Clinical Research and Public Health in the JCI

JCI中的临床研究和公共卫生

McNally, Elizabeth M

Publishing gold standard science

发表黄金标准科学

McNally, Elizabeth M; Jackson, Sarah; Williams, Corinne L; Eickelberg, Oliver

A Multiple Hit Model for Genetic Susceptibility to Cardiomyopathy

心肌病遗传易感性的多重打击模型

McNally, Elizabeth M

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