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

Rare variants in BMAL1 are associated with a neurodevelopmental syndrome

BMAL1基因的罕见变异与一种神经发育综合征相关。

Cuddapah, Vishnu Anand; Chen, Dechun; Cho, Bumsik; Moore, Rebecca; Suri, Mohnish; Safraou, Hana; Tran-Mau-Them, Frederic; Wilson, Ashley; Odgis, Jacqueline; Rehman, Atteeq U; Saunders, Carol; Ganesan, Shiva; Jobanputra, Vaidehi; Scherer, Stephen W; Helbig, Ingo; Sehgal, Amita

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

Implementing Integrated Genomic Risk Assessments for Breast Cancer: Lessons Learned from the eMERGE Study

实施乳腺癌综合基因组风险评估:eMERGE 研究的经验教训

Liu, Cong; Crew, Katherine; 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

Patient and providers' perspectives on using the GUÍA digital tool to enhance genomic results disclosure

患者和医护人员对使用 GUÍA 数字工具增强基因组检测结果披露的看法

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

Employing effective recruitment and retention strategies to engage a diverse pediatric population in genomics research

采用有效的招募和留任策略,吸引多元化的儿科人群参与基因组学研究

Ramos, Michelle A; Bonini, Katherine E; Scarimbolo, Laura; Kelly, Nicole R; Insel, Beverly; Suckiel, Sabrina A; Brown, Kaitlyn; Di Biase, Miranda; Gallagher, Katie M; Lopez, Jessenia; Aguiñiga, Karla López; Marathe, Priya N; Maria, Estefany; Odgis, Jacqueline A; Rodriguez, Jessica E; Rodriguez, Michelle A; Ruiz, Nairovylex; Sebastin, Monisha; Yelton, Nicole M; Cunningham-Rundles, Charlotte; Gertner, Melvin; Laguerre, Irma; McDonald, Thomas V; McGoldrick, Patricia E; Robinson, Mimsie; Rubinstein, Arye; Shulman, Lisa H; Williams, Trinisha; Wolf, Steven M; Yozawitz, Elissa G; Zinberg, Randi E; Abul-Husn, Noura S; Bauman, Laurie J; Diaz, George A; Ferket, Bart S; Greally, John M; Jobanputra, Vaidehi; Gelb, Bruce D; Kenny, Eimear E; Wasserstein, Melissa P; Horowitz, Carol R

Physician services and costs after disclosure of diagnostic sequencing results in the NYCKidSeq program

NYCKidSeq 项目中披露诊断测序结果后的医生服务和费用

Berkalieva, Asem; Kelly, Nicole R; Fisher, Ashley; Hohmann, Samuel F; Sebastin, Monisha; Di Biase, Miranda; Bonini, Katherine E; Marathe, Priya; Odgis, Jacqueline A; Suckiel, Sabrina A; Ramos, Michelle A; Rhodes, Rosamond; Abul-Husn, Noura S; Greally, John M; Horowitz, Carol R; Wasserstein, Melissa P; Kenny, Eimear E; Gelb, Bruce D; Ferket, Bart S

Evaluating parental personal utility of pediatric genetic and genomic testing in a diverse, multilingual population

在多元化、多语言人群中评估儿科基因和基因组检测对父母的个人实用性

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