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

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

A Scalable Framework to Integrate Social Determinants of Health into Disease Risk Models using Biobank Survey Data

利用生物样本库调查数据,构建将健康社会决定因素整合到疾病风险模型中的可扩展框架

Brown, Jane; Biji, Abhijith; Ferar, Kathleen; Pejaver, Vikas; Kenny, Eimear E; Liu, Bian; Asgari, Samira

The NYCKidSeq randomized controlled trial: Impact of GUÍA digitally enhanced genetic results disclosure in diverse families

NYCKidSeq随机对照试验:GUÍA数字化增强基因检测结果披露对不同家庭的影响

Suckiel, Sabrina A; Kelly, Nicole R; Odgis, Jacqueline A; Gallagher, Katie M; Sebastin, Monisha; Bonini, Katherine E; Marathe, Priya N; Brown, Kaitlyn; Di Biase, Miranda; Ramos, Michelle A; Rodriguez, Jessica E; Scarimbolo, Laura; Insel, Beverly J; Ferar, Kathleen D M; 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

Parent-Reported Clinical Utility of Pediatric Genomic Sequencing

家长报告的儿科基因组测序的临床应用价值

Smith, Hadley Stevens; Ferket, Bart S; Gelb, Bruce D; Hindorff, Lucia; Ferar, Kathleen D; Norton, Mary E; Sahin-Hodoglugil, Nuriye; Slavotinek, Anne; Lich, Kristen Hasmiller; Berg, Jonathan S; Russell, Heidi V

Genetic variation in the human leukocyte antigen region confers susceptibility to Clostridioides difficile infection

人类白细胞抗原区域的基因变异会使个体易感艰难梭菌感染。

Ferar, Kathleen; Hall, Taryn O; Crawford, Dana C; Rowley, Robb; Satterfield, Benjamin A; Li, Rongling; Gragert, Loren; Karlson, Elizabeth W; de Andrade, Mariza; Kullo, Iftikhar J; McCarty, Catherine A; Kho, Abel; Hayes, M Geoffrey; Ritchie, Marylyn D; Crane, Paul K; Mirel, Daniel B; Carlson, Christopher; Connolly, John J; Hakonarson, Hakon; Crenshaw, Andrew T; Carrell, David; Luo, Yuan; Dikilitas, Ozan; Denny, Joshua C; Jarvik, Gail P; Crosslin, David R

Author Correction: Genetic variation in the human leukocyte antigen region confers susceptibility to Clostridioides difficile infection

作者更正:人类白细胞抗原区域的基因变异会导致对艰难梭菌感染的易感性

Ferar, Kathleen; Hall, Taryn O; Crawford, Dana C; Rowley, Robb; Satterfield, Benjamin A; Li, Rongling; Gragert, Loren; Karlson, Elizabeth W; de Andrade, Mariza; Kullo, Iftikhar J; McCarty, Catherine A; Kho, Abel; Hayes, M Geoffrey; Ritchie, Marylyn D; Crane, Paul K; Mirel, Daniel B; Carlson, Christopher; Connolly, John J; Hakonarson, Hakon; Crenshaw, Andrew T; Carrell, David; Luo, Yuan; Dikilitas, Ozan; Denny, Joshua C; Jarvik, Gail P; Crosslin, David R

The NYCKidSeq randomized controlled trial: Impact of GUÍA digitally enhanced genetic counseling in racially and ethnically diverse families

NYCKidSeq随机对照试验:GUÍA数字化增强型遗传咨询对不同种族和民族家庭的影响

Suckiel, Sabrina A; Kelly, Nicole R; Odgis, Jacqueline A; Gallagher, Katie M; Sebastin, Monisha; Bonini, Katherine E; Marathe, Priya N; Brown, Kaitlyn; Di Biase, Miranda; Ramos, Michelle A; Rodriguez, Jessica E; Scarimbolo, Laura; Insel, Beverly J; Ferar, Kathleen D M; 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