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

Consensus guidelines for assessing eligibility of pathogenic DNA variants for antisense oligonucleotide treatments

评估致病性DNA变异是否适合接受反义寡核苷酸治疗的共识指南

Cheerie, David; Meserve, Margaret M; Beijer, Danique; Kaiwar, Charu; Newton, Logan; Taylor Tavares, Ana Lisa; Verran, Aubrie Soucy; Sherrill, Emma; Leonard, Stefanie; Sanders, Stephan J; Blake, Emily; Elkhateeb, Nour; Gandhi, Aastha; Liang, Nicole S Y; Morgan, Jack T; Verwillow, Anna; Verheijen, Jan; Giles, Andrew; Williams, Sean; Chopra, Maya; Croft, Laura; Dafsari, Hormos Salimi; Davidson, Alice E; Friedman, Jennifer; Gregor, Anne; Haque, Bushra; Lechner, Rosan; Montgomery, Kylie-Ann; Ryten, Mina; Schober, Emil; Siegel, Gabriele; Sullivan, Patricia J; Whittle, Ella F; Zardetto, Bianca; Yu, Timothy W; Synofzik, Matthis; Aartsma-Rus, Annemieke; Costain, Gregory; Lauffer, Marlen C

Leveraging cancer mutation data to inform the pathogenicity classification of germline missense variants

利用癌症突变数据来指导种系错义变异的致病性分类

Haque, Bushra; Cheerie, David; Pan, Amy; Curtis, Meredith; Nalpathamkalam, Thomas; Nguyen, Jimmy; Salhab, Celine; Thiruvahindrapuram, Bhooma; Zhang, Jade; Couse, Madeline; Hartley, Taila; Morrow, Michelle M; Price, E Magda; Walker, Susan; Malkin, David; Roth, Frederick P; Costain, Gregory

Fortieth Anniversary Virtual Issues: Neutralist–Selectionist Debate

四十周年虚拟特刊:中立主义与选择主义之争

Haque, Bushra; Cheerie, David; Birkadze, Saba; Xu, Alice Linyan; Nalpathamkalam, Thomas; Thiruvahindrapuram, Bhooma; Walker, Susan; Costain, Gregory; McGrath, Casey

A systematic assessment of the impact of rare canonical splice site variants on splicing using functional and in silico methods

利用功能和计算机模拟方法系统地评估罕见经典剪接位点变异对剪接的影响

Oh, Rachel Y; AlMail, Ali; Cheerie, David; Guirguis, George; Hou, Huayun; Yuki, Kyoko E; Haque, Bushra; Thiruvahindrapuram, Bhooma; Marshall, Christian R; Mendoza-Londono, Roberto; Shlien, Adam; Kyriakopoulou, Lianna G; Walker, Susan; Dowling, James J; Wilson, Michael D; Costain, Gregory