CACNA1C variants associated with focal epilepsy and their correlations with arrhythmias and developmental disorders [0.03%]
与焦点性癫痫相关的CACNA1C变异及其与心律失常和发育障碍的相关性
Yan-Fang Li,Pei Mo,Lan-Zhen Zhang et al.
Yan-Fang Li et al.
Purpose: CACNA1C variants have been identified in cardiac arrhythmias and developmental disorders (DD). Here, we aimed to explore the association between CACNA1C and epilepsy and the mechanism underlying phenotypic hetero...
The British Society for Genetic Medicine guidance on managing incidental findings identified during rare disease genomic testing [0.03%]
英国遗传医学协会关于在罕见病基因组检测中管理偶然发现的指导方针
Sian Ellard,Helen Hanson,Emma-Jane Cassidy et al.
Sian Ellard et al.
Background: Genomic testing will occasionally identify a highly actionable genetic variant or other finding that is not related to the reason for testing. Such incidental findings may be relevant to the patient undergoing...
Enrichment of an Ehlers-Danlos-like phenotype in women with the FMR1 premutation: a pilot study [0.03%]
脆性X染色体综合征前突变女性中Ehlers-Danlos样表型 enrichment的研究：一项初步研究
Emily L Casanova,Caroline B Buchanan,Caleb Hinzman et al.
Emily L Casanova et al.
Background: Previous research identified an Ehlers-Danlos (EDS)-like phenotype in fragile X premutation (FXPC) women. This preliminary research examines associations between the presence of this connective tissue phenotyp...
Everolimus for the treatment of neuropsychological deficits in tuberous sclerosis complex: findings from the TRON multicentre randomised controlled trial [0.03%]
Tuberous Sclerosis复合性神经皮肤症复杂性神经心理缺陷的治疗方法：TRON多中心随机对照试验的结果
Anurag Saxena,Cheney Jg Drew,Rebecca Cannings-John et al.
Anurag Saxena et al.
Background: Mammalian target of rapamycin (mTOR) inhibitors are effective treatments for tumours and epilepsy in tuberous sclerosis complex (TSC). This study aimed to determine the effects of the mTOR inhibitor everolimus...
Single-cell transcriptomics identifies neural fate disruption and glial reprogramming caused by RARS2 deficiency [0.03%]
单细胞转录组揭示RARS2缺乏引起神经元命运破坏和胶质细胞重编程
Xing Wei,Jing Wang,Yanyun Wang et al.
Xing Wei et al.
Background: Pontocerebellar hypoplasia type 6 (PCH6) is caused by biallelic pathogenic variants in RARS2, encoding mitochondrial arginyl-tRNA synthetase. Although mitochondrial dysfunction is a recognised feature, how RAR...
Unified genetic risk score for prostate cancer enables improved risk stratification for clinical decision-making [0.03%]
用于临床决策的前列腺癌综合遗传风险评分可实现更好的风险分层
Zhuqing Shi,Ashley J Mulford,Jun Wei et al.
Zhuqing Shi et al.
Background: Current clinical approaches to inherited prostate cancer (PCa) risk rely on binary classification of pathogenic variant (PV) carrier status without accounting for gene-specific heterogeneity or polygenic risk....
Integrated D4Z4 structural, epigenetic and exome-based evaluation of facioscapulohumeral muscular dystrophy in a tertiary referral cohort from Türkiye [0.03%]
土耳其三级转诊队列中面向肩肱型肌肉营养不良的综合D4Z4结构、表观遗传和外显子组评估
Şahin Avcı,Serpil Eraslan,İlker Eren et al.
Şahin Avcı et al.
Background: Diagnosing facioscapulohumeral muscular dystrophy (FSHD) requires integrated evaluation of D4Z4 repeat size, permissive haplotype status, epigenetic context and alternative molecular aetiologies, particularly ...
Potential advantage of clinical exome sequencing in BRCA1/2-negative families: a retrospective study of a cohort of 500 patients at a high-risk for hereditary cancers [0.03%]
BRCA1/2阴性高危遗传性癌症家系中临床外显子组测序潜在优势的回顾性研究(500例患者)
Anastasia Dell&#x;Elice,Claudia Palmarini,Federico Anaclerio et al.
Anastasia Dell&#x;Elice et al.
Background: Hereditary cancer syndromes (HCSs) account for approximately 5-10% of all cancers and are frequently associated with pathogenic variants (PVs) in genes such as BRCA1 and BRCA2. Nevertheless, a substantial prop...