Correction: "There's no representation": a qualitative study of attitudes and motivations towards genomic research participation among Australian South Asians [0.03%]
纠正："没有代表性"：澳大利亚南亚人群参与基因组研究的态度和动机定性研究报告
Vaishnavi Nathan,Heena Akbar,Aideen McInerney-Leo et al.
Vaishnavi Nathan et al.
Published Erratum
European journal of human genetics : EJHG. 2026 Jun 23. DOI:10.1038/s41431-026-02157-z 2026
Hemizygous loss-of-function variants of EIF1AX are associated with a syndromic neurodevelopmental disorder [0.03%]
EIF1AX单基因功能缺失变异与一种综合征性神经发育障碍相关
Kazuyuki Komatsu,Atsushi Sugie,Yohei Nitta et al.
Kazuyuki Komatsu et al.
Pathogenic variants of genes encoding initiation factors can cause neurological diseases, including neurodevelopmental disorders and brain abnormalities. The eukaryotic translation initiation factor 1 A, X-linked (EIF1AX) is a gene located ...
BRCA1 c.68_69del as a founder variant in the Spanish Roma: prevalence and screening implications [0.03%]
西班牙吉普赛人中BRCA1 c.68_69del创始人突变的流行率及其筛查意义
Ares Solanes-Cabús,Carmen Castillo-Manzano,Paula Rofes et al.
Ares Solanes-Cabús et al.
We hypothesized that the BRCA1 c.68_69del variant is highly prevalent among individuals with Roma ancestry from Spain due to a founder effect, as in the Ashkenazi Jewish population, where targeted screening has proven to be cost-effective. ...
Identifying genetic causes and establishing a diagnostic approach for WES-negative pediatric population with neurodevelopmental disorder [0.03%]
识别WES检测阴性的神经发育障碍儿童患者基因病因及建立诊断流程
Yeseul Kim,Joowon Jang,Kyeong Seon Ryu et al.
Yeseul Kim et al.
Global developmental delay (GDD) and intellectual disability (ID) are frequently caused by genetic factors, yet many patients remain undiagnosed even after whole exome sequencing (WES). This study aimed to apply Optical Genome Mapping (OGM)...
Transcriptome-wide association studies implicate RCC1 and PHACTR4 in prostate cancer survival [0.03%]
转录组范围关联研究发现染色体分离基因RCC1和PHACTR4与前列腺癌生存率相关
Weijia Fu,Joseph H Rothstein,Olle Melander et al.
Weijia Fu et al.
While prostate cancer (PrCa) is highly heritable, the genes associated with PrCa survival after diagnosis remain poorly understood. We aimed to identify genes associated with PrCa-specific survival through transcriptome-wide association stu...
Reply to: residual risk after familial RYR1 testing: interpreting malignant hyperthermia susceptibility in the context of regional testing strategies [0.03%]
对家族RYR1检测后残余风险的回复：在地区性检测策略背景下解释恶性高热易感性
Rachel L Robinson,Thatjana Gardeitchik,Meyke I Schouten et al.
Rachel L Robinson et al.
Hereditary cancer: Germline testing practices across ERN GENTURIS member countries [0.03%]
遗传性癌症：ERN GENTURIS成员国家中基因检测的实践情况
Milena Kiljańczyk,Zanda Daneberga,Mikk Tooming et al.
Milena Kiljańczyk et al.
Germline genetic testing practices for hereditary cancer vary across the European Reference Network on Genetic Tumour Risk Syndromes (ERN GENTURIS) member countries. We surveyed experts in genetic testing from 20 EU member countries and Nor...
Seda S Zonuzi
Seda S Zonuzi