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

Analysis of the Genome Aggregation Database (gnomAD) reveals a global burden of cystic fibrosis and the need for improved diagnosis and care

对基因组聚合数据库(gnomAD)的分析揭示了囊性纤维化的全球性负担,以及改善诊断和治疗的必要性。

Bar, Lilly; Darrah, Rebecca J; Vaidyanathan, Sriram

IFN-γ- GranzymeB + Natural killer cells are induced by IV BCG vaccination and associated with protection against tuberculosis in rhesus macaques

IFN-γ-颗粒酶B+自然杀伤细胞可通过静脉注射卡介苗诱导产生,并与恒河猴的结核病保护作用相关。

Makatsa, Mohau S; Bishop, Emma; Bucsan, Allison N; Sutton, Matthew S; Lehman, Chelsea C; Robertson, Molly; Yu, Krystle K Q; Peters, Joshua M; Bryson, Bryan D; Roederer, Mario; Seder, Robert A; Darrah, Patricia A; Seshadri, Chetan

Preclinical characterization of AZD1163, a first-in-class anti-PAD2/4 bispecific antibody for the treatment of rheumatoid arthritis.

AZD1163 的临床前表征,AZD1163 是一种用于治疗类风湿性关节炎的首创抗 PAD2/4 双特异性抗体。

Sims Gary P, Scaletta Lacie, Andrews John, Sims Dorothy A, Strain Martin, Sigurdardottir Anna, Kuriakose Teneema, England Elizabeth, Rajasinghe Lichchavi, Jiang Fanyi, Xiong Ximing, Neal Frances, Vinall Lisa, Newton Philip, Boger Elin, Kim Chong, Dahlbäck Helena, Prothon Susanne, Leander Jacob, Darrah Erika, Collins Mia, Douglas Garry, White Nicholas, Day Katie, Vousden Katherine A, Huntington Catherine E, Close David

The Brief Case: Danger is afoot!

公文包:危险正在逼近!

Darrah, Eric J; Wood, Macy; Frank, Michael O; Liesman, Rachael M

Benchmarking AlphaMissense against ClinVar for Diagnostic Interpretation of Missense Variants in Inherited Retinal Diseases

将 AlphaMissense 与 ClinVar 进行比较,以评估其在遗传性视网膜疾病错义变异诊断解读方面的性能

Lindquist, Mark; Darrah, Samson; Stafie, Stefan T; Mustafi, Debarshi

P-045 DKA WITH A HIDDEN AGENDA: A RARE PRESENTATION OF CANCER OF UNKNOWN PRIMARY (CUP)

P-045 糖尿病酮症酸中毒伴有隐情:原发灶不明的癌症(CUP)的罕见表现

Herrera, Alex F; Chen, Lu; Khajavian, Sirin; Chase, Matthew; Darrah, Justin; Maloney, David; Ho, Vincent T; Soiffer, Robert J; Antin, Joseph H; Forman, Stephen J; Nademanee, Auayporn P; Chen, Yi-Bin; Armand, Philippe; Shadman, Mazyar; Aydemir, Esra Eraslan; Özkara Akkuş, Feride; Emral, Rıfat; Canpolat, Asena Gökçay; Mantar, Ferhan; Selçukbi̇ri̇ci̇k, Fati̇h; Özçalık, Merve Şenay; Haydardedeoglu, Fi̇li̇z Ekşi̇; Yabanoglu, Hakan; Özgözen, Alaaddi̇n Levent; Torun, Neşe; Özdemi̇r, Hülya; Özyilkan, Özgür; Ertörer, Melek Eda; Rahman, Shadman Sakib; Kamal, Sumaiya; Chowdhury, Nusrat Ahmed; Dalili, Muhammad; Khan, Mustafizur; Boussios, Stergios

High-throughput mapping of 6,888 RAD51D variants identifies distinct biochemical functions needed for homologous recombination and olaparib response

对 6,888 个 RAD51D 变体进行高通量测序,鉴定出同源重组和奥拉帕尼反应所需的不同生化功能。

Darrah, Kristie E; Hemker, Shelby L; Rawal, Yashpal; Goff, Noah J; Parker, Phoebe; Ganesan, Gayatri; Stratton, Caleb M; Oppenheimer, Katherine; Roberts, Ella; Glick, Elena; Banks, Nicole; Kumar, Arjun; Casadei, Silvia; Snyder, Matthew W; Nathanson, Katherine; Domchek, Susan M; Starita, Lea M; Olsen, Shaun K; Sung, Patrick; Kitzman, Jacob O; Bernstein, Kara A

Predicting Individual Pain Sensitivity Using a Novel Cortical Biomarker Signature

利用新型皮质生物标志物特征预测个体疼痛敏感性

Chowdhury, Nahian S; Bi, Chuan; Furman, Andrew J; Chiang, Alan K I; Skippen, Patrick; Si, Emily; Millard, Samantha K; Margerison, Sarah M; Spies, Darrah; Keaser, Michael L; Da Silva, Joyce T; Chen, Shuo; Schabrun, Siobhan M; Seminowicz, David A

Precise identification and tracking of HMGCR-reactive CD4+ T cells in the target tissue of patients with anti-HMGCR immune-mediated necrotising myopathy

精确识别和追踪抗HMGCR免疫介导的坏死性肌病患者靶组织中HMGCR反应性CD4+ T细胞

Tiniakou, Eleni; Girgis, Alex; Siafei, Tiara; Albayda, Jemima; Adler, Brittany; Paik, Julie J; Mecoli, Christopher A; Rebman, Alison; Soloski, Mark J; Christopher-Stine, Lisa; Smith, Kellie N; Rosen, Antony; Mammen, Andrew Lee; Darrah, Erika

Comprehensive RAD51C ovarian cancer variant analysis uncouples homologous recombination and replicative functions

全面的 RAD51C 卵巢癌变异分析揭示了同源重组和复制功能之间的关联

Rein, Hayley L; Rawal, Yashpal; Palovcak-Lightbourn, Anna L; Ganesan, Gayatri S; Parker, Phoebe S; Russell, Reagan; Darrah, Kristie E; Afsar, Mohammad; Sullivan, Meghan R; Hengel, Sarah R; Radke, Marc R; Opresko, Patricia L; Yanowitz, Judith L; Greene, Eric C; Lee, Jung-Min; Domchek, Susan M; Swisher, Elizabeth M; Olsen, Shaun K; Sung, Patrick; Bernstein, Kara A