Biallelic variants in BBOX1 cause L-Carnitine deficiency and elevated γ-butyrobetaine [0.03%]
BBOX1双等位基因变异导致L-肉毒碱缺乏和γ-羟丁酸血氨升高
Xiao Li,Mehdi Yeganeh,Graham Sinclair et al.
Xiao Li et al.
Gamma-butyrobetaine hydroxylase (BBOX1) catalyses the last step of carnitine biosynthesis, converting γ-butyrobetaine (γ-BB) into L-carnitine. Here we show, for the first time, that biallelic variants in BBOX1 are associated with decrease...
Genetic analyses across cardiovascular traits: leveraging genetic correlations to empower locus discovery and prediction in common cardiovascular diseases [0.03%]
心血管性状的遗传分析：利用遗传相关性发现位点和预测常见心血管疾病
Paloma Jordà,Yiwei Lai,Amélie Jeuken et al.
Paloma Jordà et al.
Common genetic variation detected by genome-wide association studies (GWAS) partially explains variability in the spectrum of cardiac phenotypes. In this work, we explore genetic correlations among 58 cardiac-related traits/diseases, detect...
Author Correction: A founder BRCA1 exonic duplication involving breakpoint in T2T reference genome-specific region results in constitutional fusion transcript [0.03%]
作者更正：BRCA1外显子重复创始人导致在T2T参考基因组特异性区域的融合转录本
Mathias Schwartz,Mathilde Filser,Kevin Merchadou et al.
Mathias Schwartz et al.
Published Erratum
NPJ genomic medicine. 2025 Sep 2;10(1):62. DOI:10.1038/s41525-025-00522-3 2025
PopPK modeling supports BW band dosing of lacosamide for pediatric epilepsy [0.03%]
群体药代动力学指导拉考沙胺治疗儿童癫痫的剂量调整
Yue Li,Hong-Li Guo,Lin Fan et al.
Yue Li et al.
Personalized precision dosing remains an unmet clinical need. This study used population pharmacokinetic (PopPK) modeling to evaluate transitioning lacosamide (LCM) in children with epilepsy from body weight (BW)-based (mg/kg) to simplified...
Genome sequencing provides high diagnostic yield and new etiological insights for intellectual disability and developmental delay [0.03%]
基因组测序对智力障碍和发育迟缓提供高诊断率及新的病因学见解
Kohei Hamanaka,Atsushi Fujita,Satoko Miyatake et al.
Kohei Hamanaka et al.
Short-read genome sequencing (GS) is a powerful technique for investigating the genetic etiologies of rare diseases, capturing diverse genetic variations that are challenging to approach with exome sequencing (ES). We performed GS on 260 fa...
Rapid generation of a sdhb loss-of-function zebrafish model for secreting pheochromocytomas and paragangliomas [0.03%]
用于分泌型嗜铬细胞瘤和副神经节瘤的SDHB功能丧失性斑马鱼模型的快速建立
S Parisien-La Salle,F Nobilleau,A da Silva Babinet et al.
S Parisien-La Salle et al.
Genotype plays a central role in the comprehensive management of pheochromocytomas and paragangliomas, highlighting the critical need for specific in vivo genetic models. Yet, animal models fall short of fully recapitulating the biological ...
A founder BRCA1 exonic duplication involving breakpoint in T2T reference genome-specific region results in constitutional fusion transcript [0.03%]
一个涉及端点在T2T参考基因组特有区域的BRCA1外显子重复导致组成型融合转录本
Mathias Schwartz,Mathilde Filser,Kevin Merchadou et al.
Mathias Schwartz et al.
Pathogenicity assessment of genetic variants is the cornerstone of genetic counselling. Copy gains of exons are challenging, as pathogenicity depends on the localization of the additional exons. Eight patients form six families carried copy...
Genomics on FHIR - a feasibility study to support a National Strategy for Genomic Medicine [0.03%]
基因组学在FHIR上的可行性研究以支持国家基因组医学战略
Nina Haffer,Caroline Stellmach,Julian Sass et al.
Nina Haffer et al.
The German National Strategy for Genomic Medicine (genomDE) aims to integrate genome sequencing into standard healthcare. However, integrating genomics data from research and healthcare remains challenging. This study analyzed how the genom...
Sequencing validates deep learning models for EHR-based detection of Noonan syndrome in pediatric patients [0.03%]
基因组测序验证了基于EHR的深度学习模型在儿科患者中诺纳努恩综合征筛查中的应用
Zeyu Yang,Amy Shikany,Ammar Husami et al.
Zeyu Yang et al.
Despite advanced diagnostic tools, early detection of rare genetic conditions like Noonan syndrome (NS) remains challenging. We evaluated a deep learning model's real-world performance in identifying potential NS cases using electronic heal...
Serum microRNA expression quantitative trait loci in children with asthma colocalize with asthma-related GWAS results [0.03%]
儿童哮喘患者血清微小核糖核酸表达数量性状位点与哮喘相关GWAS结果共定位
Julian Hecker,Anshul Tiwari,Rinku Sharma et al.
Julian Hecker et al.
Asthma poses a significant public health burden. Despite identifying more than a hundred genetic risk loci in genome-wide association studies (GWAS), the underlying functional mechanisms remain poorly understood. Studying omics, especially ...