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

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

Age-Dependent Contributions of Rare and Common Genetic Variation in Atrial Fibrillation

罕见和常见基因变异对心房颤动的年龄依赖性影响

Chen, Zhanlin; Aziz, Peter F; Greenland, Philip; Passman, Rod; Gordon, Adam S; Webster, Gregory

Functional Profiling of KCNE1 Variants Informs Population Carrier Frequency of Jervell and Lange-Nielsen Syndrome Type 2

KCNE1变异体的功能分析揭示了Jervell和Lange-Nielsen综合征2型的群体携带者频率。

Vanoye, Carlos G; Desai, Reshma R; John, Jordan D; Hoffman, Steven C; Fink, Nicolas; Zhang, Yue; Venkatesh, Omkar G; Roe, Jonathan; Adusumilli, Sneha; Jairam, Nirvani P; Sanders, Charles R; Gordon, Adam S; George, Alfred L Jr

Functional profiling of KCNE1 variants informs population carrier frequency of Jervell and Lange-Nielsen syndrome type 2

KCNE1 变异体的功能分析揭示了 Jervell 和 Lange-Nielsen 综合征 2 型的群体携带者频率。

Vanoye, Carlos G; Desai, Reshma R; John, Jordan D; Hoffman, Steven C; Fink, Nicolas; Zhang, Yue; Venkatesh, Omkar G; Roe, Jonathan; Adusumilli, Sneha; Jairam, Nirvani P; Sanders, Charles R; Gordon, Adam S; George, Alfred L

Current Limitations of Electronic Health Record Systems in Supporting Pragmatic Clinical Trials: Insights from the eMERGE Consortium

电子健康记录系统在支持实用临床试验方面的当前局限性:来自 eMERGE 联盟的启示

Wagholikar, Kavishwar B; Pacheco, Jennifer Allen; Gordon, Adam S; Khan, Atlas; Khales, Bahram Namjou; Benoit, Barbara; Kerman, Benjamin J; Weng, Chunhua; Ta, Casey; Prows, Cynthia A; Johnson, Robert; Roden, Dan M; Crosslin, David; McNally, Elizabeth M; Karlson, Elizabeth W; Mentch, Frank; Jarvik, Gail P; Wiesner, Georgia L; Hakonarson, Hakon; Cimino, James J; Thayer, Jeritt G; Smoller, Jordan W; Linder, Jodell E; Connolly, John; Peterson, Josh F; Cortopassi, Josh; Kiryluk, Krzysztof; Hamed, Marwan; Maradik, Mary; Puckelwartz, Megan J; Naderian, Mohammadreza; Walton, Nephi; Limdi, Nita; Maripuri, Devi Priyanka; Walunas, Theresa; Gainer, Vivian; Luo, Yuan; Liu, Cong; Kenny, Eimear E; Espinoza, Angelica; Rowley, Robb; Wei, Wei-Qi; Murphy, Shawn N

Selection, optimization and validation of ten chronic disease polygenic risk scores for clinical implementation in diverse US populations

针对美国不同人群,筛选、优化和验证十种慢性病多基因风险评分,以用于临床应用

Lennon, Niall J; Kottyan, Leah C; Kachulis, Christopher; Abul-Husn, Noura S; Arias, Josh; Belbin, Gillian; Below, Jennifer E; Berndt, Sonja I; Chung, Wendy K; Cimino, James J; Clayton, Ellen Wright; Connolly, John J; Crosslin, David R; Dikilitas, Ozan; Velez Edwards, Digna R; Feng, QiPing; Fisher, Marissa; Freimuth, Robert R; Ge, Tian; Glessner, Joseph T; Gordon, Adam S; Patterson, Candace; Hakonarson, Hakon; Harden, Maegan; Harr, Margaret; Hirschhorn, Joel N; Hoggart, Clive; Hsu, Li; Irvin, Marguerite R; Jarvik, Gail P; Karlson, Elizabeth W; Khan, Atlas; Khera, Amit; Kiryluk, Krzysztof; Kullo, Iftikhar; Larkin, Katie; Limdi, Nita; Linder, Jodell E; Loos, Ruth J F; Luo, Yuan; Malolepsza, Edyta; Manolio, Teri A; Martin, Lisa J; McCarthy, Li; McNally, Elizabeth M; Meigs, James B; Mersha, Tesfaye B; Mosley, Jonathan D; Musick, Anjene; Namjou, Bahram; Pai, Nihal; Pesce, Lorenzo L; Peters, Ulrike; Peterson, Josh F; Prows, Cynthia A; Puckelwartz, Megan J; Rehm, Heidi L; Roden, Dan M; Rosenthal, Elisabeth A; Rowley, Robb; Sawicki, Konrad Teodor; Schaid, Daniel J; Smit, Roelof A J; Smith, Johanna L; Smoller, Jordan W; Thomas, Minta; Tiwari, Hemant; Toledo, Diana M; Vaitinadin, Nataraja Sarma; Veenstra, David; Walunas, Theresa L; Wang, Zhe; Wei, Wei-Qi; Weng, Chunhua; Wiesner, Georgia L; Yin, Xianyong; Kenny, Eimear E

Consideration of disease penetrance in the selection of secondary findings gene-disease pairs: A policy statement of the American College of Medical Genetics and Genomics (ACMG)

在选择次要发现基因-疾病对时考虑疾病外显率:美国医学遗传学和基因组学学会 (ACMG) 的政策声明

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

Prospective, multi-site study of healthcare utilization after actionable monogenic findings from clinical sequencing

一项前瞻性、多中心研究,旨在评估临床测序中发现可操作的单基因后医疗保健利用情况。

Linder, Jodell E; Tao, Ran; Chung, Wendy K; Kiryluk, Krzysztof; Liu, Cong; Weng, Chunhua; Connolly, John J; Hakonarson, Hakon; Harr, Margaret; Leppig, Kathleen A; Jarvik, Gail P; Veenstra, David L; Aufox, Sharon; Chisholm, Rex L; Gordon, Adam S; Hoell, Christin; Rasmussen-Torvik, Laura J; Smith, Maureen E; Holm, Ingrid A; Miller, Erin M; Prows, Cynthia A; Elskeally, Omar; Kullo, Iftikhar J; Lee, Christopher; Jose, Sheethal; Manolio, Teri A; Rowley, Robb; Padi-Adjirackor, Nana Addo; Wilmayani, Ni Ketut; City, Brittany; Wei, Wei-Qi; Wiesner, Georgia L; Rahm, Alanna Kulchak; Williams, Janet L; Williams, Marc S; Peterson, Josh F

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