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

An optimized variant prioritization process for rare disease diagnostics: recommendations for Exomiser and Genomiser

针对罕见病诊断的优化变异优先级排序流程:Exomiser 和 Genomiser 的建议

Cooperstein, Isabelle B; Marwaha, Shruti; Ward, Alistair; Kobren, Shilpa N; Carter, Jennefer N; Wheeler, Matthew T; Marth, Gabor T

Researcher views on returning results from multi-omics data to research participants: insights from The Molecular Transducers of Physical Activity Consortium (MoTrPAC) Study

研究人员对向研究参与者反馈多组学数据结果的看法:来自“运动分子转导联盟”(MoTrPAC)研究的启示

Ormond, Kelly E; Stanclift, Caroline; Reuter, Chloe M; Carter, Jennefer N; Murphy, Kathleen E; Lindholm, Malene E; Wheeler, Matthew T

RAPSN-Associated Congenital Myasthenic Syndrome due to Biallelic Single Nucleotide Variants at the Same Position

由同一位置的双等位基因单核苷酸变异引起的RAPSN相关先天性肌无力综合征

Keehan, Laura; Carter, Jennefer N; Kravets, Elijah; Wheeler, Matthew T; Bernstein, Jonathan A; Maselli, Ricardo A; Sampson, Jacinda B; Bachir, Suha

Ensilication preserves high-molecular weight native DNA for clinical long-read sequencing

硅化技术能够保留高分子量天然DNA,用于临床长读长测序。

Ferrasse, Alexis; Mendez, Rodrigo; Gorzynski, John E; Reuter, Chloe; Carter, Jennefer N; Bernstein, Jonathan A; Wheeler, Matthew T; Banal, James L; Ashley, Euan A

Biomni: A General-Purpose Biomedical AI Agent

Bioomni:一款通用生物医学人工智能代理

Huang, Kexin; Zhang, Serena; Wang, Hanchen; Qu, Yuanhao; Lu, Yingzhou; Roohani, Yusuf; Li, Ryan; Qiu, Lin; Li, Gavin; Zhang, Junze; Yin, Di; Marwaha, Shruti; Carter, Jennefer N; Zhou, Xin; Wheeler, Matthew; Bernstein, Jonathan A; Wang, Mengdi; He, Peng; Zhou, Jingtian; Snyder, Michael; Cong, Le; Regev, Aviv; Leskovec, Jure

Immunological and hematological findings as major features in a patient with a new germline pathogenic CBL variant.

免疫学和血液学发现是具有新的生殖系致病性 CBL 变异的患者的主要特征

Stellacci Emilia, Carter Jennefer N, Pannone Luca, Stevenson David, Moslehi Dorsa, Venanzi Serenella, Bernstein Jonathan A, Tartaglia Marco, Martinelli Simone