Identifying Genes Associated with Obstructive Congenital Heart Defects Using a Family-Based Genetic Random Field Method: Results from the National Birth Defects Prevention Study [0.03%]
应用遗传随机领域法识别与先天性阻塞性心脏缺陷相关基因：来自全美出生缺陷防治研究项目的结果
Manyan Huang,Nianjun Liu,Stephanie M Ware et al.
Manyan Huang et al.
Congenital heart defects (CHDs) are the most common major congenital anomalies and the leading cause of infant mortality attributable to birth defects. Although substantial progress has been made in the identification of single nucleotide v...
A personalized genomic medicine approach to rare genomic disorders associated with simple chromosomal structural variants [0.03%]
与简单染色体结构变异相关的罕见基因组疾病的个性化基因组医学方法
Dezső David,Joana Fino,Márcia Rodrigues et al.
Dezső David et al.
Chromosomal structural variant (CSV)-associated conditions, or genomic disorders (GDs), remain a diagnostic challenge. Our cohort included 26 individuals with severe unselected, phenotypes associated with simple CSVs, as well as two clinica...
Interplay between genomic architecture alterations and GDF6 regulation: a candidate mechanism in Nablus mask-like facial syndrome [0.03%]
基因组结构改变与GDF6调控之间的相互作用：Nablus面部综合征候选机制
Alexandru Marian Bologa,Luiza Dimos,Anca Gabriela Pavel et al.
Alexandru Marian Bologa et al.
Nablus mask-like facial syndrome (NMLFS) is a very rare disorder associated with 8q22.1q22 microdeletions and characterized by the distinctive facial phenotype, in addition to variable neurological, cardiological, and genital anomalies. How...
Pediatric High-Grade Gliomas and Cancer Predisposition Syndromes: A Retrospective Study [0.03%]
儿童高级别胶质瘤和癌症易感综合征：一项回顾性研究
Selene Cipri,Giada Del Baldo,Emanuele Agolini et al.
Selene Cipri et al.
The relationship between pediatric and adolescent/young adult (AYA) patients with high-grade gliomas (pHGGs) and cancer predisposition syndromes (CPSs) remains insufficiently explored, despite the increasing use of massive parallel sequenci...
Multi-ancestry genome-wide association meta-analysis of hepatocellular carcinoma identifies eight risk loci including MAP3K9, DHRS1, MTTP, and 8q24.21 [0.03%]
多祖先肝细胞癌全基因组联合 meta 分析确定了包括 MAP3K9、DHRS1、MTTP 和 8q24.21 在内的八个风险位点
Ifechukwuamaka Chinaka,Annabelle Schofield,Christopher I Amos et al.
Ifechukwuamaka Chinaka et al.
Hepatocellular carcinoma (HCC) is the third leading cause of cancer death globally, often arising on a background of cirrhosis. Here, we aimed to establish genetic drivers of all-cause HCC across ancestries in a large meta-analysis. We incl...
Kaisa T Oja,Karit Reinson,Mihkel Ilisson et al.
Kaisa T Oja et al.
The ATP-binding cassette subfamily A member 2 (ABCA2) gene encodes an ABC transporter protein. Biallelic loss-of-function variants in ABCA2 have been associated with an intellectual disability disorder. We aimed to delineate the phenotypic ...
A Pseudotime-Dependent TWAS Framework Identifies Disease Genes along Cell Developmental Paths [0.03%]
一种伪时间依赖的TWAS框架沿细胞发育路径识别疾病基因
Rui Cao,Chunlin Li,Erjia Cui et al.
Rui Cao et al.
Transcriptome-wide association studies (TWAS) link genes to disease risk by integrating gene expression with genome-wide association study (GWAS) data. The growing availability of single-cell expression data offers the opportunity to dissec...
A lethal form of ASCC3 disease: severe global developmental delay, axial hypotonia, hypoplasia of corpus callosum, hypothyroidism and micropenis [0.03%]
一种致命的ASCC3疾病形式：严重的全球发育迟缓、轴向低张力、胼胝体发育不全、甲状腺功能减退和隐睾症
Ginat Narkis,Vadim Dolgin,Sufa Sued-Hendrickson et al.
Ginat Narkis et al.
ASCC3 encodes a DNA helicase, pivotal in transcriptional regulation, DNA damage response, and ribosomal quality control. Biallelic ASCC3 variants have been recently associated with a wide spectrum of non-lethal neuromuscular and neurodevelo...
Clustered monoallelic mosaicism in twins suggests previously unrecognized path of mutagenesis [0.03%]
双胞胎中簇状单等位基因嵌合体的存在暗示了以前未被认识到的突变路径
Jonas Böhnlein,Johann G Maass,Julia Dennig et al.
Jonas Böhnlein et al.
We report monozygotic twins with HNRNPU-related neurodevelopmental disorder who harbor two closely spaced mosaic single-nucleotide deletions on the same allele (c.1463del and c.1466del). The variants are mutually exclusive on individual DNA...
Genome-wide association study of untargeted plasma metabolomic profiles identifies host genetic regulation in people with HIV [0.03%]
靶向血浆代谢组关联研究识别了HIV感染者中宿主基因的调控作用
Mariam Ait Oumelloul,Adriaan van der Graaf,Simon Tang et al.
Mariam Ait Oumelloul et al.
People with HIV (PWH) exhibit accelerated aging and a higher prevalence of aging-related conditions, despite effective antiretroviral therapy. The biological mechanisms involved remain incompletely understood. Integrating genomic and metabo...