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

A Plot Twist: When RNA Yields Unexpected Findings in Paired DNA-RNA Germline Genetic Testing

剧情反转:当RNA在配对DNA-RNA生殖系基因检测中产生意想不到的结果时

Zimmermann, Heather; Brannan, Terra; Young, Colin; Ramirez Castano, Jesus; Horton, Carolyn; Richardson, Alexandra; Molparia, Bhuvan; Richardson, Marcy E

Solving Missing Heritability in Patients With Familial Adenomatous Polyposis With DNA-RNA Paired Testing

利用DNA-RNA配对检测解决家族性腺瘤性息肉病患者缺失的遗传因素

Young, Colin C; Horton, Carolyn; Grzybowski, Jessica; Abualkheir, Nelly; Ramirez Castano, Jesus; Molparia, Bhuvan; Karam, Rachid; Chao, Elizabeth; Richardson, Marcy E

Impact of polygenic risk communication: an observational mobile application-based coronary artery disease study

多基因风险沟通的影响:一项基于移动应用程序的冠状动脉疾病观察性研究

Muse, Evan D; Chen, Shang-Fu; Liu, Shuchen; Fernandez, Brianna; Schrader, Brian; Molparia, Bhuvan; León, André Nicolás; Lee, Raymond; Pubbi, Neha; Mejia, Nolan; Ren, Christina; El-Kalliny, Ahmed; Prado Montes de Oca, Ernesto; Aguilar, Hector; Ghoshal, Arjun; Dias, Raquel; Evans, Doug; Chen, Kai-Yu; Zhang, Yunyue; Wineinger, Nathan E; Spencer, Emily G; Topol, Eric J; Torkamani, Ali

Mutational and splicing landscape in a cohort of 43,000 patients tested for hereditary cancer

接受遗传性癌症检测的 43,000 名患者的突变和剪接情况

Carolyn Horton, Ashley Cass, Blair R Conner, Lily Hoang, Heather Zimmermann, Nelly Abualkheir, David Burks, Dajun Qian, Bhuvan Molparia, Huy Vuong, Holly LaDuca, Jessica Grzybowski, Kate Durda, Robert Pilarski, Jessica Profato, Katherine Clayback, Martin Mahoney, Courtney Schroeder, Wilfredo Torres-

Directed remodeling of the mouse gut microbiome inhibits the development of atherosclerosis

小鼠肠道微生物组的定向重塑可抑制动脉粥样硬化的发展

Poshen B Chen, Audrey S Black, Adam L Sobel, Yannan Zhao, Purba Mukherjee, Bhuvan Molparia, Nina E Moore, German R Aleman Muench, Jiejun Wu, Weixuan Chen, Antonio F M Pinto, Bruce E Maryanoff, Alan Saghatelian, Pejman Soroosh, Ali Torkamani, Luke J Leman, M Reza Ghadiri

Splicing profile by capture RNA-seq identifies pathogenic germline variants in tumor suppressor genes

利用捕获式RNA测序技术分析剪接谱,可识别肿瘤抑制基因中的致病性种系变异。

Landrith, Tyler; Li, Bing; Cass, Ashley A; Conner, Blair R; LaDuca, Holly; McKenna, Danielle B; Maxwell, Kara N; Domchek, Susan; Morman, Nichole A; Heinlen, Christopher; Wham, Deborah; Koptiuch, Cathryn; Vagher, Jennie; Rivera, Ragene; Bunnell, Ann; Patel, Gayle; Geurts, Jennifer L; Depas, Morgan M; Gaonkar, Shraddha; Pirzadeh-Miller, Sara; Krukenberg, Rebekah; Seidel, Meredith; Pilarski, Robert; Farmer, Meagan; Pyrtel, Khateriaa; Milliron, Kara; Lee, John; Hoodfar, Elizabeth; Nathan, Deepika; Ganzak, Amanda C; Wu, Sitao; Vuong, Huy; Xu, Dong; Arulmoli, Aarani; Parra, Melissa; Hoang, Lily; Molparia, Bhuvan; Fennessy, Michele; Fox, Susanne; Charpentier, Sinead; Burdette, Julia; Pesaran, Tina; Profato, Jessica; Smith, Brandon; Haynes, Ginger; Dalton, Emily; Crandall, Joy Rae-Radecki; Baxter, Ruth; Lu, Hsiao-Mei; Tippin-Davis, Brigette; Elliott, Aaron; Chao, Elizabeth; Karam, Rachid

The Autoimmune Protocol Diet Modifies Intestinal RNA Expression in Inflammatory Bowel Disease

自身免疫方案饮食可改变炎症性肠病患者的肠道RNA表达

Chandrasekaran, Anita; Molparia, Bhuvan; Akhtar, Ehsaan; Wang, Xiaoyun; Lewis, James D; Chang, John T; Oliveira, Glenn; Torkamani, Ali; Konijeti, Gauree Gupta

A feasibility study of colorectal cancer diagnosis via circulating tumor DNA derived CNV detection

一项基于循环肿瘤DNA衍生拷贝数变异检测的结直肠癌诊断可行性研究

Molparia, Bhuvan; Oliveira, Glenn; Wagner, Jennifer L; Spencer, Emily G; Torkamani, Ali

Combined accelerometer and genetic analysis to differentiate essential tremor from Parkinson's disease

结合加速度计和基因分析来区分特发性震颤和帕金森病

Molparia, Bhuvan; Schrader, Brian N; Cohen, Eli; Wagner, Jennifer L; Gupta, Sandeep R; Gould, Sherrie; Hwynn, Nelson; Spencer, Emily G; Torkamani, Ali

Efficacy of the Autoimmune Protocol Diet for Inflammatory Bowel Disease

自身免疫方案饮食疗法对炎症性肠病的疗效

Konijeti, Gauree G; Kim, NaMee; Lewis, James D; Groven, Shauna; Chandrasekaran, Anita; Grandhe, Sirisha; Diamant, Caroline; Singh, Emily; Oliveira, Glenn; Wang, Xiaoyun; Molparia, Bhuvan; Torkamani, Ali