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

Racial and socioeconomic disparities in genetic evaluation and testing in the adult patient population

成人患者群体中基因评估和检测的种族和社会经济差异

Gold, Jessica I; Elkaim, Yehuda; Gold, Nina B; Asher, Stephanie; Raper, Anna; Condit, Courtney; Bogus, Zoe; Elysee, Isaac; Hennessy, Laura; Kennedy, Emma; Briere, Lauren C; Sweetser, David A; Kripke, Colleen; Verma, Anurag; Salmasian, Hojjat; Landry, Latrice; Nathanson, Katherine L; Kallish, Staci; Drivas, Theodore G

A genotype-first approach identifies high incidence of NF1 pathogenic variants with distinct disease associations

基因型优先的方法可以识别出高发的NF1致病变异,这些变异与特定的疾病相关。

Safonov, Anton; Nomakuchi, Tomoki T; Chao, Elizabeth; Horton, Carrie; Dolinsky, Jill S; Yussuf, Amal; Richardson, Marcy; Speare, Virginia; Li, Shuwei; Bogus, Zoe C; Bonanni, Maria; Raper, Anna; Odia, Trust; Wubbenhorst, Bradley S; Faulders, Elsa; Schuth, Elisabeth M; Loranger, Kate; Zhang, Jingwen; Scalise, Carly Bess; ElNaggar, Adam; Sha, Youbao; Felker, Stephanie A; Weitzel, Jeffrey; Kallish, Staci; Ritchie, Marylyn D; Nathanson, Katherine L; Drivas, Theodore G

A stable NTN1 fluorescent reporter chicken reveals cell specific molecular signatures during optic fissure closure.

稳定的 NTN1 荧光报告鸡揭示了视裂闭合过程中细胞特异性的分子特征

Ho Ching Chan Brian, Hardy Holly, Requena Teresa, Findlay Amy, Ioannidis Jason, Meunier Dominique, Toms Maria, Moosajee Mariya, Raper Anna, McGrew Mike J, Rainger Joe

An Unusual Cause of Hexokinase 1 Deficiency-Case Report

己糖激酶1缺乏症的一种罕见病因——病例报告

Kilich, Gonench; Maurer, Kelly; Jadhav, Tanaya; Jammihal, Tejas; Zhang, Zhe; Hartung, Helge; Izumi, Kosuki; Hassey, Kelly; Raper, Anna; Schindewolf, Erica; Conlin, Laura; Ganetzky, Rebecca; Li, Marilyn; Glader, Bertil; Rajagopalan, Ramakrishnan; Sullivan, Kathleen E

Practice-Based Insights into Adult Genetics: High Diagnostic Yield, Demographic Determinants, and Patterns of Test Utilization in Over 7,000 Patients

基于实践的成人遗传学见解:7000多名患者的高诊断率、人口统计学决定因素和检测利用模式

Gold, Jessica I; Elkaim, Yehuda; Asher, Stephanie; Raper, Anna; Condit, Courtney; Bogus, Zoe; Elysee, Isaac; Hennessy, Laura; Kennedy, Emma; Chai, Teresa; Cohen, Stacey; Gehringer, Brielle N; Gray, Shannon M; Streater, Ala; Toye, Eamon; Kripke, Colleen; Nathanson, Katherine L; Rohanizadegan, Mersedeh; Kallish, Staci; Drivas, Theodore G

Protocol for a type 3 hybrid implementation cluster randomized clinical trial to evaluate the effect of patient and clinician nudges to advance the use of genomic medicine across a diverse health system

一项旨在评估通过引导患者和临床医生来促进基因组医学在多元化医疗体系中应用的3型混合实施集群随机临床试验方案

Raper, Anna C; Weathers, Benita L; Drivas, Theodore G; Ellis, Colin A; Kripke, Colleen Morse; Oyer, Randall A; Owens, Anjali T; Verma, Anurag; Wileyto, Paul E; Wollack, Colin C; Zhou, Wenting; Ritchie, Marylyn D; Schnoll, Robert A; Nathanson, Katherine L

Phenotypic characterisation of bovine alveolar macrophages reveals two major subsets with differential expression of CD163

牛肺泡巨噬细胞的表型特征分析揭示了两个主要亚群,它们在CD163的表达上存在差异。

Randall, Emily M; Sopp, Paul; Raper, Anna; Dry, Inga; Burdon, Tom; Hope, Jayne C; Waddell, Lindsey A

Analysis of the current Covid-19 infection and vaccination status in patients with neurofibromatosis type 1

对1型神经纤维瘤病患者当前新冠病毒感染和疫苗接种状况的分析

Safonov, Anton; Nomakuchi, Tomoki T; Chao, Elizabeth; Horton, Carrie; Dolinsky, Jill S; Yussuf, Amal; Richardson, Marcy; Speare, Virginia; Li, Shuwei; Bogus, Zoe C; Bonanni, Maria; Raper, Anna; Kallish, Staci; Ritchie, Marylyn D; Nathanson, Katherine L; Drivas, Theodore G; Ge, Lingling; Gu, Yihui; Wang, Wei; Wei, Chengjiang; Wang, Zhichao; Li, Qingfeng

Germline POT1 variants can predispose to myeloid and lymphoid neoplasms

生殖系POT1变异可导致髓系和淋巴系肿瘤。

Lim, Tristan L; Lieberman, David B; Davis, Adam R; Loren, Alison W; Hausler, Ryan; Bigdeli, Ashkan; Li, Yimei; Powers, Jacquelyn; Raper, Anna; Regeneron Genetics Center; Carty, Shannon A; Nathanson, Katherine L; Bagg, Adam; Hexner, Elizabeth O; Maxwell, Kara N; Morrissette, Jennifer J D; Babushok, Daria V

Impact of integrating genomic data into the electronic health record on genetics care delivery

将基因组数据整合到电子健康记录中对遗传学医疗服务的影响

Lau-Min, Kelsey S; McKenna, Danielle; Asher, Stephanie Byers; Bardakjian, Tanya; Wollack, Colin; Bleznuck, Joseph; Biros, Daniel; Anantharajah, Arravinth; Clark, Dana F; Condit, Courtney; Ebrahimzadeh, Jessica E; Long, Jessica M; Powers, Jacquelyn; Raper, Anna; Schoenbaum, Anna; Feldman, Michael; Steinfeld, Lauren; Tuteja, Sony; VanZandbergen, Christine; Domchek, Susan M; Ritchie, Marylyn D; Landgraf, Jeffrey; Chen, Jessica; Nathanson, Katherine L