Human YTHDC2 mutations disturb RNA homeostasis of oocytes and early embryos [0.03%]
人YTHDC2基因突变会干扰卵母细胞和早期胚胎的RNA稳态
Wei Su,Yang Wang,Jiaqi Sun et al.
Wei Su et al.
Farzaneh Rami,Nazanin Vaziri,Amanda V Tyndall et al.
Farzaneh Rami et al.
High frequency of mosaic NF2-related schwannomatosis diagnosed after somatic analysis of multi-nodular schwannomas in schwannomatosis patients [0.03%]
schwannomatosis患者多结节施万细胞瘤的体细胞性分析后诊断出NF2相关性施旺母细胞瘤嵌合型病例高频出现
Matthieu Peyre,Cécile Barbance,Suzanne Tran et al.
Matthieu Peyre et al.
Following the recent introduction of molecular diagnosis criteria for schwannomatosis, we decided to study the results of somatic molecular testing in patients with a tumor burden suggestive of non-NF2-related Schwannomatosis, with a partic...
Genomics workforce views on automating genomic reanalysis: trust, equity and governance [0.03%]
基因组劳动力关于自动化基因组重新分析的看法：信任、公平与治理
Emily A King,Fiona Lynch,Zornitza Stark et al.
Emily A King et al.
Automation of genomic data reanalysis can increase diagnostic rates in a timely and cost-effective manner. However, implementing automated reanalysis brings with it both ethical and practical challenges. We sought to explore how clinical an...
Understanding the public's intention to adopt CRISPR-Cas9: the effect of beliefs, knowledge, and innovativeness [0.03%]
了解公众对CRISPR-Cas9的采纳意愿：信念、知识和创新性的影响
Jasmine Melamed,Sivia Barnoy
Jasmine Melamed
CRISPR-Cas9 is a gene editing technology with wide-ranging medical potential and significant ethical implications. This study examined how personality traits, familiarity with CRISPR, knowledge about CRISPR, and beliefs concerning its appli...
Higher mitochondrial DNA methylation is associated with increased risk of stroke: a nested case-control study [0.03%]
较高的线粒体DNA甲基化水平与卒中风险增加相关：一项病例对照研究
Xueru Fu,Yuewan Fang,Yujie Zhao et al.
Xueru Fu et al.
A homozygous synonymous variant in SMG5, encoding a nonsense-mediated mRNA decay factor, causes developmental delay with growth retardation and relative macrocephaly [0.03%]
SMG5基因纯合同义突变导致发育迟缓、生长障碍和相对巨颅症综合征
Debora Tibbe,Tess Holling,Michael Spohn et al.
Debora Tibbe et al.
Clinical characteristics and genetic variant spectrum of 27 patients with coagulation factor XI deficiency [0.03%]
27例凝血因子XI缺乏症患者的临床特征及基因型分析
Juan Ren,Yalin Yu,Duanyang Wang et al.
Juan Ren et al.
Variants in NR6A1 as a cause for congenital renal, vertebral and uterine anomalies [0.03%]
NR6A1新变异与先天性肾、椎体和子宫畸形相关
Adeline Jacquinet,Lydie Flasse,Manon Dohet et al.
Adeline Jacquinet et al.
Horizon: CNV interpretation through rapid automated ACMG-aligned pathogenicity analysis [0.03%]
地平线：通过快速自动的ACMG一致性致病性分析进行CNV解读
Mariam Eldesouky,Suhana Shiyas,Amirul Islam et al.
Mariam Eldesouky et al.
Our study assesses the Horizon model, a novel CNV classification tool developed in line with American College of Medical Genetics (ACMG) guidelines, to enhance the classification of pathogenicity in CNVs. Horizon utilizes a ranking-based al...