Identification and characterisation of a novel homozygous KDM5A variant associated with severe axial hypotonia, seizures, and cardiac anomalies [0.03%]
一种与重度躯干肌张力减弱、癫痫和心脏异常相关的新型KDM5A同合子变异体的鉴定与表征
Serdar Bozlak,Cuneyd Yavas,Yusuf Seflekci et al.
Serdar Bozlak et al.
KDM5A is a critical chromatin-modifying enzyme with lysine-specific demethylase activity and is highly expressed in brain tissues. Biallelic pathogenic variants in KDM5A are linked to KDM5A-related neurodevelopmental disorders, a rare disor...
Clinical significance of miRNAs and exosomal miRNAs in non-small cell lung cancer: diagnostic, prognostic, and therapeutic perspectives [0.03%]
非小细胞肺癌中miRNA和外泌体miRNA的临床意义：诊断、预后和治疗观点
Imteyaz Ahmad Khan,Surabhi Gupta,Jagdish Prasad Meena
Imteyaz Ahmad Khan
Lung cancer is the most frequently diagnosed malignancy and the leading cause of cancer-related mortality worldwide, with approximately 85% of cases classified as non-small cell lung cancer (NSCLC). Despite significant advances in diagnosti...
Clinical features of four unrelated Japanese patients with autosomal recessive spinocerebellar ataxia type 32 [0.03%]
四个独立的日本三体综合征患者临床特征概述
Hiromi Fukuda,Hiroshi Doi,Shunsuke Ogata et al.
Hiromi Fukuda et al.
Peroxiredoxin 3 (PRDX3) encodes a mitochondrially localized antioxidant enzyme. Biallelic pathogenic variants in PRDX3 cause autosomal recessive spinocerebellar ataxia type 32 (SCAR32), a rare form of spinocerebellar ataxia. We report four ...
Biallelic SLC20A2 loss-of-function in severe early-onset neurodevelopmental disorder with brain calcification [0.03%]
SLC20A2双等位基因功能丧失与严重的早发性神经发育障碍和脑钙化相关
Mehmet Burak Mutlu,Abdullah Sezer,Elif Özdemir et al.
Mehmet Burak Mutlu et al.
Biallelic SLC20A2 variants have recently been linked to a severe childhood-onset phenotype distinct from classical adult-onset primary brain calcification, but the molecular and radiologic consequences of homozygous truncating variants rema...
Omitting post-alignment processing and merging batch-based imputation: an efficient workflow for NIPT data imputation and its application in maternal folate metabolism genotyping [0.03%]
省略后对准处理和批处理填充合并：一种用于无创产前检测数据填充的高效工作流及其在母体叶酸代谢基因分型中的应用
Kaixin Wu,Mei Zheng,Peng He et al.
Kaixin Wu et al.
Non-invasive prenatal testing (NIPT) generates vast amounts of low-depth sequencing data, offering a valuable resource for studying maternal genetic traits. However, standard NIPT genotype imputation workflows include time-consuming post-al...
Molecular genetics of skeletal muscle diseases associated with abnormal excitation-contraction coupling [0.03%]
与兴奋收缩偶联异常相关的肌肉疾病分子遗传学
Yukari Endo
Yukari Endo
Skeletal muscle excitation-contraction coupling (ECC) is a highly specialized process that converts membrane depolarization into contraction through tightly regulated intracellular Ca²⁺ dynamics. Recent advances in molecular genetics have...
VAF-tumor content graph: a simple visual framework for interpreting hereditary cancer variants and supporting genetic counseling in tumor-only sequencing [0.03%]
VAF-肿瘤内容图：解释遗传性癌症变异和在仅进行肿瘤测序时支持基因咨询的简单视觉框架
Mina Kashima,Hiroshi Tsubamoto,Tomoko Ueda et al.
Mina Kashima et al.
Comprehensive genomic profiling (CGP) using tumor-only sequencing detects pathogenic or likely pathogenic (P/LP) variants in hereditary cancer susceptibility genes (HCSGs). However, interpreting the biological origin and clinical significan...
A nationwide survey on attitudes of obstetricians and gynecologists toward comprehensive prenatal genetic testing in Japan [0.03%]
日本妇产科医生对全面孕前基因检测态度的全国性调查
Yuka Shibata,Takahiro Yamada,Nahoko Shirato et al.
Yuka Shibata et al.
Comprehensive prenatal genetic testing expands the range of conditions that can be diagnosed before birth. However, its appropriate use requires a high genetic literacy level. This study aimed to identify challenges associated with the clin...
Correction: A trio-based long-read sequencing workflow identifies a pathogenic transposable element insertion in a previously undiagnosed patient [0.03%]
纠正：基于三重的长读测序工作流程识别出一个以前未被诊断患者的致病转座元件插入点
Hiroyuki Mishima,Yoriko Watanabe,Uladzislau Korzun et al.
Hiroyuki Mishima et al.
Published Erratum
Journal of human genetics. 2026 Jul 21. DOI:10.1038/s10038-026-01495-6 2026