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

Genome-wide methylation detection and episignature analysis using PacBio long-read sequencing

利用PacBio长读长测序进行全基因组甲基化检测和表观遗传特征分析

期刊:Genome Medicine
影响因子:11.2
doi:10.1186/s13073-025-01506-9
Ivashchenko, Véronique; de Groot, Michelle; Derks, Ronny; den Ouden, Amber; Khazeeva, Gelana; van den Heuvel, Simone; Timmermans, Raoul; Corominas Galbany, Jordi; Pfundt, Rolph; Hofste, Tom; Yntema, Helger; Vissers, Lisenka; Hoischen, Alexander; Hampstead, Juliet; Gilissen, Christian
表观遗传
发表日期：2026
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Template-assisted sequence knockin rescues skeletal and cardiac muscle function in a deletion model of Duchenne muscular dystrophy.

模板辅助序列敲入可挽救杜氏肌营养不良症缺失模型中的骨骼肌和心肌功能。

期刊:Molecular Therapy
影响因子:12
doi:10.1016/j.ymthe.2025.05.005
Fatehi Sina, Rok Matthew J, Marks Ryan M, Huynh Emily, Kozman Natalie, Truong Hong Anh, Chi Lijun, Yan Bei, Khazeeva Enzhe, Delgado-Olguin Paul, Ivakine Evgueni A, Cohn Ronald D
心血管
发表日期：2025
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DeNovoCNN: a deep learning approach to de novo variant calling in next generation sequencing data

DeNovoCNN：一种用于下一代测序数据中从头变异检测的深度学习方法

期刊:Nucleic Acids Research
影响因子:13.1
doi:10.1093/nar/gkac511
Khazeeva, Gelana; Sablauskas, Karolis; van der Sanden, Bart; Steyaert, Wouter; Kwint, Michael; Rots, Dmitrijs; Hinne, Max; van Gerven, Marcel; Yntema, Helger; Vissers, Lisenka; Gilissen, Christian
发表日期：2022
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De novo mutations in children born after medical assisted reproduction

通过辅助生殖技术出生的儿童中出现的新生突变

期刊:Human Reproduction
影响因子:
doi:10.1093/humrep/deac068
Smits, R M; Xavier, M J; Oud, M S; Astuti, G D N; Meijerink, A M; de Vries, P F; Holt, G S; Alobaidi, B K S; Batty, L E; Khazeeva, G; Sablauskas, K; Vissers, L E L M; Gilissen, C; Fleischer, K; Braat, D D M; Ramos, L; Veltman, J A
发表日期：2022
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