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

Healthcare professionals' experiences returning monogenic, polygenic, and integrated risk results in the eMERGE study

eMERGE研究中医疗专业人员反馈单基因、多基因和综合风险结果的经验

Suckiel, Sabrina A; Golfinopoulos, Laura; Scherr, Courtney L; Boyd, Brenna M; Chung, Wendy K; Hakonarson, Hakon; Holm, Ingrid A; Kullo, Iftikhar J; Limdi, Nita A; Murray, Michael F; Myers, Melanie F; Prows, Cynthia A; Sabatello, Maya; Wiesner, Georgia L; Kenny, Eimear E; Abul-Husn, Noura S

Viewing direct-to-consumer genetic test results for depression risk is psychologically well tolerated: Evidence from a longitudinal equivalence study

消费者可以直接查看抑郁风险基因检测结果,这一观点在心理上具有良好的接受度:一项纵向等效性研究的证据

Berns, Rebecca M K; Dhamija, Devika; Coker, Daniella; Robertson, Chelsea L; Wen, Jingran; Wu, R Ryanne; Holmes, Michael V; Abul-Husn, Noura S

Developing a phenotype risk score for TTR V142I to capture undiagnosed variant transthyretin amyloidosis in health systems

为TTR V142I开发表型风险评分,以在医疗系统中发现未确诊的变异型转甲状腺素蛋白淀粉样变性。

Sarkar, Deepa; Ferar, Kathleen D; Syed, Mohammad Ghouse; Bastarache, Lisa A; Kenny, Eimear E; Abul-Husn, Noura S; Pejaver, Vikas; Kontorovich, Amy R

Automated machine learning of echocardiographic strain enables identification of early myocardial changes in pre-symptomatic TTR carriers

利用自动化机器学习技术分析超声心动图应变,可以识别无症状TTR基因携带者的早期心肌变化。

Weigman, Amit; Zhao, Wenli; Liao, Steve L; Trivieri, Maria Giovanna; Madiman, Samuel; Lerakis, Stamatios; Kenny, Eimear E; Abul-Husn, Noura S; Pejaver, Vikas; Kontorovich, Amy R

ACMG SF v3.3 list for reporting of secondary findings in clinical exome and genome sequencing: A policy statement of the American College of Medical Genetics and Genomics (ACMG)

ACMG SF v3.3 临床外显子组和基因组测序中次要发现报告列表:美国医学遗传学和基因组学学会 (ACMG) 的政策声明

Lee, Kristy; Abul-Husn, Noura S; Amendola, Laura M; Brothers, Kyle B; Chung, Wendy K; Gollob, Michael H; Gordon, Adam S; Harrison, Steven M; Hershberger, Ray E; Li, Marilyn; Ondrasik, Deborah; Richards, C Sue; Stergachis, Andrew; Stewart, Douglas R; Martin, Christa Lese; Miller, David T

Characteristics and correlates of the use of social media for nutrition among young adults in the United Arab Emirates

阿联酋青年人利用社交媒体获取营养信息的特征及相关因素

Khaleel, Sharfa; Abbas, Nada; Niazi, Dalia; Aljundi, Husn; Alrouh, Raghad; Abugharbiyeh, Yara; Hashim, Mona; Alameddine, Mohamad; Naja, Farah

Implementing integrated genomic risk assessments for breast cancer: lessons learned from the Electronic Medical Records and Genomics study

实施乳腺癌综合基因组风险评估:从电子病历和基因组学研究中汲取的经验教训

Liu, Cong; Crew, Katherine D; Morse, Jennifer; Linder, Jodell E; Antoniou, Antonis C; Carver, Tim; Cortopassi, Josh; Peterson, Josh F; Ta, Casey N; Hoell, Christin; Prows, Cynthia; Kenny, Eimear E; Miller, Emily; Perez, Emma; Jarvik, Gail P; Bland, Harris T; Odgis, Jacqueline A; Mittendorf, Kathleen F; Bonini, Katherine E; McGuffin, Kyle; Kottyan, Leah C; Maradik, Mary; Limdi, Nita; Abul-Husn, Noura S; Marathe, Priya N; Suckiel, Sabrina A; Aguilar, Sienna; Lewis, Toni J; Wei, Wei-Qi; Luo, Yuan; Freimuth, Robert R; Hakonarson, Hakon; Weng, Chunhua; Chung, Wendy K; Wiesner, Georgia L

Investigating the Impact of Screen-Sharing Visual Aids during Genomic Results Disclosure via Telehealth in Diverse Families in the TeleKidSeq Pilot Study

在TeleKidSeq试点研究中,调查通过远程医疗向不同家庭披露基因组检测结果时屏幕共享视觉辅助工具的影响

Odgis, Jacqueline A; Kelly, Nicole R; Sebastin, Monisha; Golfinopoulos, Laura; Insel, Beverly J; Suckiel, Sabrina A; Bonini, Katherine E; Marathe, Priya N; Di Biase, Miranda; Brown, Kaitlyn; Gallagher, Katie M; Ramos, Michelle A; Rodriguez, Jessica E; Yelton, Nicole; López Aguiñiga, Karla; Rodriguez, Michelle A; María, Estefany; Lopez, Jessenia; Zinberg, Randi E; Diaz, George A; Greally, John M; Abul-Husn, Noura S; Bauman, Laurie J; Gelb, Bruce D; Horowitz, Carol R; Kenny, Eimear E; Wasserstein, Melissa P