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期刊名:Human mutation

缩写:HUM MUTAT

ISSN:1059-7794

e-ISSN:1098-1004

IF/分区:1.8/Q4

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共收录本刊相关文章索引5179
Clinical Trial Case Reports Meta-Analysis RCT Review Systematic Review
Classical Article Case Reports Clinical Study Clinical Trial Clinical Trial Protocol Comment Comparative Study Editorial Guideline Letter Meta-Analysis Multicenter Study Observational Study Randomized Controlled Trial Review Systematic Review
Shijie Ren,Mingmin Du,Jingyuan Liu et al. Shijie Ren et al.
The genetic architecture underlying traits associated with Type 1 Gaucher disease (GD1) remains insufficiently explored. We integrated genomic structural equation modeling and multiple post-genome-wide association study (GWAS) methodologies...
Lan Ding,Qingmei Xu,Dongdong Liu et al. Lan Ding et al.
Lung adenocarcinoma (LUAD) is a leading cause of cancer mortality, necessitating the identification of robust biomarkers and a deeper understanding of its molecular underpinnings. This study is aimed at screening for potential LUAD biomarke...
Zijun Zhu,Hailong Li,Xin Wang et al. Zijun Zhu et al.
The observational studies confirmed the high prevalence of metabolic dysfunction-associated steatotic liver disease (MASLD) in patients with Type 2 diabetes mellitus (T2DM), but whether this reflects a shared genetic etiology and exists und...
Haitham Ahmed Al-Madhagi,Muhammad Shahab,Zheng Guojun et al. Haitham Ahmed Al-Madhagi et al.
Background and aims: Melanoma represents the most malignant type of skin cancer. It is estimated that approximately 100,000 new cases of melanoma were diagnosed in 2022, resulting in over 7600 deaths in the United States ...
Wei Han,Qingzhen Zhang,Xiaochang Zhang et al. Wei Han et al.
Nanopore sequencing has emerged as a promising technology due to its real-time data acquisition, portability, and high throughput. However, the genotyping capabilities of the latest flow cell, R10.4.1, for short tandem repeats (STRs) remain...
Fu Xinmo,Bai Minghua,Qiu Xu et al. Fu Xinmo et al.
Background: Radiotherapy resistance limits colorectal cancer (CRC) treatment efficacy, with only 15%-20% of patients achieving a complete response. Validated biomarkers predicting treatment response and serving as therape...
Weixuan Chen,Cong Li,Yun Liu et al. Weixuan Chen et al.
Background: Glioblastoma (GBM) is the most prevalent primary brain tumor. Despite extensive investigations, GBM's resistance to the first-line drug temozolomide (TMZ) remains a major challenge in clinical management. This...
Xiaoyan Wang,Tongmei Zhang,Yayun Qin et al. Xiaoyan Wang et al.
Purpose: The 2015 guidelines recommend using a large, diverse, and race-matched reference database. However, defining expectations in this context is subjective due to factors like genetic diversity and penetrance. ClinGe...
Xincheng Yi,Zongming Jia,Jixiang Wu et al. Xincheng Yi et al.
Background: Clear cell renal cell carcinoma (KIRC), the most prevalent pathological renal cell carcinoma (RCC) subtype, makes up approximately 75%-84% of total cases. KIRC is characterized by high heterogeneity, high meta...
Ziyang Liu,Jiahao Shan,Tao Yang et al. Ziyang Liu et al.
Background: Kidney renal clear cell carcinoma (KIRC) is an aggressive malignancy with limited therapeutic options, highlighting the need for novel biomarkers and therapeutic targets. Although endoplasmic reticulum metallo...