Experiencing acute genomic care: perspectives from parents in the neonatal and paediatric intensive care units towards rapid genomic sequencing [0.03%]
急性基因组护理体验：新生儿和儿科重症监护病房中快速基因组测序的父母观点
Michael P Mackley,Megan A Dickson,Anna Szuto et al.
Michael P Mackley et al.
Rapid genomic sequencing (rGS) is increasingly used in neonatal and paediatric intensive care units (ICUs) to inform diagnosis and guide management of critically ill infants and children. Although rGS has a high diagnostic yield and potenti...
Chronological frameworks for Indo-European languages: Insights from linguistics, archaeology and genomics [0.03%]
印欧语系语言的年代框架：来自语言学、考古学和基因组学的见解
George van Driem,Jaison Jeevan Sequeira,Swathy Krishna et al.
George van Driem et al.
Promises under pressure: the modest predictive power of polygenic risk scores [0.03%]
压力下的承诺：多基因风险评分的有限预测能力
Rachel Horton,Malcolm Dunlop,Margaret McCartney et al.
Rachel Horton et al.
The absolute chronology of the presence of Indo-European/Indic languages in the Indian subcontinent [0.03%]
印度次大陆印欧语系/印地语族语言出现的绝对年代学
Ramakrishnan Sitaraman
Ramakrishnan Sitaraman
Domain-specific phenotypic profiles in RAF1-related Noonan syndrome [0.03%]
RAF1相关Noonan综合征的谱系特异性表型特征
Andrea Gazzin,Marta Calvo,Federico Rondot et al.
Andrea Gazzin et al.
Pathogenic variants in RAF1 are a common cause of Noonan syndrome (NS), accounting for approximately 5% of cases. Nonetheless, RAF1-related NS is often associated with severe clinical features, particularly hypertrophic cardiomyopathy (HCM)...
Eleanor Roberts,Nicola Flaum,D Gareth Evans
Eleanor Roberts
Newly identified ARF3 variants strengthen the causal link between Golgi fragmentation and brain malformations [0.03%]
新发现的ARF3变异体强化了高尔基体片段化与脑部畸形之间的因果联系
Valentina Muto,Giulia Fasano,Francesca Clementina Radio et al.
Valentina Muto et al.
We recently identified de novo missense variants affecting the small GTPase ARF3 as the cause of a disorder characterized by developmental delay/intellectual disability, microcephaly, brain atrophy, epilepsy and minor skeletal defects. In v...
Insights from 2057 germline genetic tests in renal cell carcinoma patients support revisiting testing criteria [0.03%]
2057例肾细胞癌患者 germline遗传检测结果启示：重新审视检测指征riteria修订指征的启示
Roseline Vibert,Yahya El Baroudi,Maude Vecten et al.
Roseline Vibert et al.
Renal cell carcinoma (RCC) arises sporadically or in a hereditary context, with inherited cases accounting for less than 10%, depending on the genes analyzed. Next-generation sequencing has enabled the use of multigene panels (MGP) to chara...
Impact of BRCA1/2 status on young women's sexual function, relationships, and reproduction after predictive genetic testing [0.03%]
BRCA1/2基因检测对年轻女性性功能、人际关系及生育的影响
Laura E Forrest,Rowan Forbes Shepherd,Timothy Spelman et al.
Laura E Forrest et al.
The experiences and outcomes for women identified with a BRCA1/2 pathogenic variant during young adulthood are qualitatively described but not well quantified. This study investigated the impact of BRCA1/2 status on women's reproduction, in...
A systematic analysis of mitochondrial aminoacyl tRNA synthetase variants in a rare disease cohort [0.03%]
线粒体氨酰-tRNA合成酶变异在罕见病队列中的系统分析
Thiloka E Ratnaike,M Eren Kule,Ida Paramonov et al.
Thiloka E Ratnaike et al.
Mitochondrial aminoacyl-tRNA synthetases (mt-aaRSs) are a group of proteins encoded by nuclear DNA that play a crucial role in mitochondrial protein synthesis. Mitochondrial diseases caused by mt-aaRS variants are phenotypically heterogenou...