A reanalysis of a genome-wide association study on breast cancer in Asian populations using the SG10K_Health reference panel for imputation: a multi-Centre case-control analysis [0.03%]
利用SG10K_Health参考面板进行外推后对亚洲人群乳腺癌的全基因组关联研究进行再分析：多中心病例对照分析
Xuling Chang,Shivaani Mariapun,Mengyu Li et al.
Xuling Chang et al.
Genome-wide association studies (GWAS) have identified numerous genetic variants linked to breast cancer risk, but most discoveries come from European populations, limiting their applicability to other populations. Here, we show that the ch...
Multicenter Study
Human molecular genetics. 2026 Mar 23;35(6):ddag015. DOI:10.1093/hmg/ddag015 2026
Association of rare apolipoprotein E ε4 homozygosity with an earlier age at onset in spinocerebellar ataxia type 3 [0.03%]
载脂蛋白ε4纯合子罕见变异与脊髓小脑共济失调3型早期发病关联的研究
Charlotte Clara Meyer,Eduardo Preusser de Mattos,Rahel Maria Burger et al.
Charlotte Clara Meyer et al.
Spinocerebellar Ataxia Type 3 (SCA3) is an autosomal dominant neurodegenerative Polyglutamine (polyQ) disease, caused by a cytosine-adenine-guanine (CAG) repeat expansion in the ATXN3 gene, resulting in an expanded polyQ tract in the Ataxin...
Reversible cystogenesis in juvenile primate ADPKD models: evidence from PKD1 heterozygous monkeys [0.03%]
PKD1杂合猴子模型的囊肿可逆性生成现象研究
Shoma Matsumoto,Toshifumi Morimura,Kenichi Kobayashi et al.
Shoma Matsumoto et al.
Autosomal dominant polycystic kidney disease (ADPKD) is a common inherited disorder caused predominantly by heterozygous mutations in the PKD1 gene, leading to progressive renal cyst formation. While PKD1 mutant mouse models have provided m...
Subtle cellular phenotypes inform pathological and benign genetic mutants in the Iduronate-2 sulfatase gene [0.03%]
亚微环境表型可告知Iduronylate-2硫酸酯基因的病理和良性遗传变异体
Anushka Viswanathan,Serena Elia,Steven Q Le et al.
Anushka Viswanathan et al.
Molecular genetic testing is increasingly used in clinical care to identify genetic variants and their impact on disease burden. However, variants of uncertain significance (VUS) hamper the utility of molecular diagnostic testing. In patien...
Correction to: Distinct mutations in the autoimmune regulator gene differentially affect transcriptional and functional properties of medullary thymic epithelial cells [0.03%]
Correction to：自身免疫调节基因中的不同突变会影响髓质胸腺上皮细胞的转录和功能属性的不同性质
Published Erratum
Human molecular genetics. 2026 Feb 23;35(5):ddag017. DOI:10.1093/hmg/ddag017 2026
Clinical utility and genomic insights from whole exome and clinical exome sequencing in idiopathic liver disease [0.03%]
无创性肝病的外显子组测序的临床效益和基因组新发现
Seray Bozkurt Kekilli,Ozge Kamer Karalar Pekuz,Arda Kekilli et al.
Seray Bozkurt Kekilli et al.
Background: Chronic liver disease (CLD) is a major global health burden, causing ~ 2 million deaths annually. In a substantial proportion of cases, extensive hepatology and metabolic evaluations fail to determine the etio...
Functional characterisation of obesity-associated MRAP2 variants on MC4R and GHSR signalling [0.03%]
肥胖相关基因MRAP2变异对MC4R和GHSR信号的影响研究
Alejandra V Rodríguez Rondón,Karina Prins,Femke Volker et al.
Alejandra V Rodríguez Rondón et al.
Melanocortin-2 receptor accessory protein-2 (MRAP2) modulates the activity of hypothalamic melanocortin-4 (MC4R) and growth hormone-secretagogue (GHSR) receptors, which suppress and promote appetite, respectively. We investigate whether obe...
Correlations between phenotype and gene region-specific episignatures in Rubinstein-Taybi syndrome and Menke-Hennekam syndrome [0.03%]
Rubinstein-Taybi综合征和Menke-Hennekam综合征的表型与特定基因区域的表观标志之间的相关性分析
Yanan Tang,Xiantao Ye,Yongkun Zhan et al.
Yanan Tang et al.
Rubinstein-Taybi syndrome (RSTS) and Menke-Hennekam syndrome (MKHK) are two rare Mendelian disorders presented with variable degrees of intellectual disability and different facial dysmorphism. They are caused by loss-of-function (LOF) vari...
Updated compendium of genes and variants associated with congenital hypogonadotropic hypogonadism: systematic review, classification pipeline, and network analysis [0.03%]
与先天性低促性腺激素性性腺功能减退症相关的基因和变异的更新汇编：系统性回顾，分类流程及网络分析
Franco G Brunello,Sebastián Castro,Jonathan Zaiat et al.
Franco G Brunello et al.
To advance the understanding of Congenital Hypogonadotropic Hypogonadism (CHH), we aimed to refine the catalog of causal genes and variants. We systematically collected variants reported in the literature and created CHH_vd, a curated datab...
An Alu mediated intergenic inversion in RBCK1 causing Polyglucosan body myopathy type 1 [0.03%]
一种由Alu介导的RBCK1基因间的倒位引起的一型多葡糖苷体肌病
Bochen Zhu,Kexin Jiao,Xiaona Luo et al.
Bochen Zhu et al.
Polyglucosan body myopathy type 1 (PGBM1) is a rare glycogen storage disorder characterized by the abnormal accumulation of polyglucosan bodies in various tissues, particularly skeletal muscle. Caused by pathogenic variants in the RBCK1 gen...