Seda S Zonuzi
Seda S Zonuzi
Correction: Position statement from the Italian Society of Human Genetics (SIGU) on the implementation of germline pharmacogenetic testing [0.03%]
意大利人类遗传学会(SIGU)关于实施生殖细胞药物基因组检测的立场文件的更正
Matteo Floris,Antonino Moschella,Mario Capasso et al.
Matteo Floris et al.
Published Erratum
European journal of human genetics : EJHG. 2026 May 12. DOI:10.1038/s41431-026-02126-6 2026
Optimising rare tumour risk syndromes care: clinical insights and the PREVENTABLE socioeconomic framework [0.03%]
罕见肿瘤风险综合征的护理优化：临床见解和PREVENTABLE社会经济框架
Sara B Pereira,Liliana Sousa,Ricardo Amorim et al.
Sara B Pereira et al.
Follow-up, cancer risk and mortality in Peutz-Jeghers syndrome: Data from the PRED-IdF network [0.03%]
Peutz-Jeghers综合征的随访、癌症风险和死亡率：PRED-IdF网络的数据分析
Maxime Rémond,Youenn Drouet,Antoine Dardenne et al.
Maxime Rémond et al.
Peutz-Jeghers syndrome (PJS) is a very rare autosomal dominant disorder associated with an increased risk of gastrointestinal and gynecological cancers. However, risk estimates vary widely, due to the small size and retrospective nature of ...
Hereditary gastric cancer checks its balance at the ATM: Broadening risk beyond CDH1 [0.03%]
HEREDITARY胃癌在ATM处检查其平衡：超出CDH1的风险
Paul C Lott,Luis G Carvajal-Carmona
Paul C Lott
EMQN Best Practice Guidelines for Genetic Testing and Reporting in RYR1-related disorders [0.03%]
EMQN关于RYR1相关疾病基因检测和报告的指导意见
Rachel L Robinson,Thatjana Gardeitchik,Meyke I Schouten et al.
Rachel L Robinson et al.
Here, we present EMQN Best Practice Guidelines for Genetic Testing and Reporting in RYR1-related disorders. They aim is to aid clinical genetic laboratories in testing, and unequivocal and comprehensive reporting of RYR1 variants for the be...
Reduced penetrance of COL1A1/2 pathogenic variants linked with osteogenesis imperfecta: analysis of a large population cohort [0.03%]
COL1A1/2致病变异相关的成骨不全症的减性外显子率分析：基于大规模人群队列的研究
Alistair T Pagnamenta,James Fasham,Robin N Beaumont et al.
Alistair T Pagnamenta et al.
Osteogenesis imperfecta (OI) is under consideration for inclusion in several genomic newborn screening initiatives, but its penetrance in clinically-unselected populations is currently unknown. It is an exemplar condition for evaluating pen...
Transcription-based identification of uncharacterized genes in the human immune response [0.03%]
基于转录的鉴定在人类免疫反应中的未表征基因
Emil E Vorsteveld,Simone Kersten,Charlotte Kaffa et al.
Emil E Vorsteveld et al.
Host-pathogen interactions are shaped by the nature of the pathogen and by host-related factors. Human host responses can be characterized in microbe-stimulated immune cells using transcriptomics. We set out to characterize gene expression ...
Distinct sub-clusters of developmental disorder-associated variants in the switch II region of RAC1 [0.03%]
RAC1开关II区与发育障碍相关的变异亚簇
Hebah O Althebaiti,James Cooksedge,Martin J Baker et al.
Hebah O Althebaiti et al.
RAC1 is a signal transducer essential for neurodevelopment. Missense variants in RAC1 cause heterogeneous neurodevelopmental disorders whose features include intellectual disability and developmental delay. Individuals with RAC1 variants ar...
Genomic newborn screening: a scoping review of the field's evolution and associated ethical, legal, and social implications [0.03%]
基因组新生儿筛查：领域演变及相关的伦理、法律和社会影响的综述性评价
Gemma L Brown,Loren Walker,Mutiat A Afolabi et al.
Gemma L Brown et al.
The integration of genomic sequencing into newborn screening (genomic newborn screening; gNBS) has the potential to identify more presymptomatic babies who could benefit from early intervention compared to traditional universal newborn scre...