Comparative profiles of pediatric Mendeliome: A Single-Centre 572-Whole-Exome Sequencing Study in Xinjiang [0.03%]
新疆维吾尔自治区单中心572例外显子组测序的儿科孟德尔病谱系分析
Yan Li,Chen Cao,Yanfei Luo et al.
Yan Li et al.
Objective: To compare the diagnostic yields and utility of whole-exome sequencing (WES) for Mendelian disorders in pediatric patients of different ethnic backgrounds in Xinjiang. ...
The article "Weighted Burden Analysis of Rare Genetic Variants Identifies Novel Genes with Effects on BMI" [Hum Hered. 2025;90:72-81; https://doi.org/10.1159/000549644] by D. Curtis was published with the wrong open access license. The corr...
Published Erratum
Human heredity. 2026;91(1):30. DOI:10.1159/000551109 2026
Exploratory Analysis of HMGB1 Genetic Variants and Their Potential Association with Lung Cancer Susceptibility and Chemotherapy Response in a Chinese Population [0.03%]
汉族人群高迁移率族蛋白B1基因多态性与肺癌易感性和化疗敏感性的相关性分析
Qing Li,Li Yan,Hongjing Li et al.
Qing Li et al.
Background High-mobility group box 1 (HMGB1) protein plays a significant role in cancer development and treatment response. The current research on the role of HMGB1 in lung cancer and its treatment outcomes is limited and inconsistent. Thi...
Weighted burden analysis of rare genetic variants identifies novel genes with effects on BMI [0.03%]
加权负荷分析罕见遗传变异鉴定影响体重指数的新型基因
David Curtis
David Curtis
A previous study of 200,000 exome-sequenced UK Biobank participants investigating the association between rare coding variants and BMI had implicated two genes, MC4R and PCSK1, at exome-wide significance. In addition, a further 66 genes wer...
Generalized Stable Population and Agent-Based Models of phenotypic transmission in human populations, with an application to body size [0.03%]
应用于人体体型的广义稳定群体和主体模型中的表型传递模型
Néstor Aldea,Aitor García-Aguirre,Hiram Beltrán-Sánchez et al.
Néstor Aldea et al.
We show that generalizations of stable population (GSPM) and agent based models (ABM) are useful tools to simulate the trajectory of a human phenotype. Although mathematically very different, both classes of models can simultaneously accoun...
Proteinase-activated receptor 2 (PAR-2) expression and F2RL1 genetic variants are associated with asthma: a case-control study in the Chinese population [0.03%]
蛋白酶激活受体2(PAR-2)表达和F2RL1基因多态性与哮喘的相关性：一项针对中国人群的病例对照研究
Guohuan Chen,Bizhi Zheng,Jinhe Cui
Guohuan Chen
Asthma is a chronic respiratory disorder characterized by airway inflammation, hyperresponsiveness, and reversible airflow obstruction. Despite therapeutic strategies, asthma remains inadequately controlled in many patients. Genetic predisp...
A common variant in NID1 gene associated with the prognosis of heart failure [0.03%]
与心力衰竭预后相关的NID1基因常见变异体
Dong Hu,Jing Zhao,Lei Xiao et al.
Dong Hu et al.
Introduction Previous study has demonstrated the protective effect of NID1 on myocardial infarction. This study aimed to assess the correlation between NID1 polymorphisms and the prognosis of heart failure (HF). In this study, we aimed to e...
Molecular Characterization of Two Hypertension Pedigrees Carrying Mitochondrial tRNAGln 4386T>C Mutation [0.03%]
携带线粒体tRNAGln 4386T>C突变的两个高血压家系的分子特征分析
Zhongshun Luo,Jiayu Lin,Jiazhen Ji et al.
Zhongshun Luo et al.
Objectives: To explore the relationships between mitochondrial tRNA (mt-tRNA) mutations and essential hypertension (EH), and providing the valuable information for molecular diagnosis of EH. ...
Easy-PSAP: an integrated workflow to prioritize pathogenic variants in sequence data from a single individual [0.03%]
易PSAP：一种优先处理单个个体测序数据中的致病突变的集成工作流
Marie-Sophie C Ogloblinsky,Marc B Gros-La-Faige,Daniel P Lewinsohn et al.
Marie-Sophie C Ogloblinsky et al.
Introduction Next-Generation Sequencing data analysis has become an integral part of clinical genetic diagnosis, raising the question of variant prioritization. The Population Sampling Probability (PSAP) method has been developed to tackle ...
A bibliometric analysis of GWAS on Rheumatoid Arthritis from 2002 to 2024 [0.03%]
2002至2024年GWAS在类风湿性关节炎领域的文献计量分析
Wen-Hui Wang,Ming-Hui Xia,Xin-Ru Liu et al.
Wen-Hui Wang et al.
Introduction Rheumatoid arthritis (RA) has become a serious threat to human health and quality of life worldwide. Previous studies have demonstrated that genetic factors play a crucial role in the onset and progression of RA. Due to the rap...