The role of genomic assistants, associates, and practitioners (GenPs) in the NHS in England: demographics, future career plans and key challenges [0.03%]
英国国家医疗服务体系中基因组助理、关联人员和从业人员（GenP）的角色：人口统计特征、未来职业规划及关键挑战
Scarlett Lake,Bethany Lumborg,Annabel Patton
Scarlett Lake
As the range and complexity of genomic testing has expanded over the past decade, genetic services need support to provide the best care for patients. Throughout the NHS in England, genetic assistant, associate and practitioner roles (GenPs...
Correction: ELMO2-related intraosseous vascular malformation: new cases with novel pathogenic variants, clinical follow-up and therapeutic approaches [0.03%]
纠正：与ELMO2相关的骨内血管畸形：新病例、致病突变、临床随访及治疗方案
Mert Karakaya,Iman Ragab,Vera Riehmer et al.
Mert Karakaya et al.
Published Erratum
European journal of human genetics : EJHG. 2025 Oct 27. DOI:10.1038/s41431-025-01965-z 2025
What is risk in clinical genetics? Designing and piloting tools to evaluate risk in clinical genetics using failure modes and effects analysis [0.03%]
临床遗传学中的风险是什么？利用故障模式和影响分析设计并在临床遗传学中试行评估风险的工具
Deborah M Lambert,Helen Stewart,Mari Bandiola et al.
Deborah M Lambert et al.
Risk exists throughout medicine. Understanding health system pressure points permits implementation of controls for risk reduction. The literature lacks a systematic approach to risk evaluation in Clinical Genetics. We aimed to develop Clin...
Heterozygous loss of SRRM1 may be associated with neurodevelopmental phenotypes and anomalies in cell growth and neurite morphology [0.03%]
SRRM1杂合丢失与神经发育表型及细胞生长和神经突形态异常可能相关
Melek Firat Altay,Anne Gregor,Dominique Braun et al.
Melek Firat Altay et al.
Serine/arginine repetitive matrix protein 1 (SRRM1) is a key component of spliceosomes and plays various roles in messenger RNA processing. To date, its function in the nervous system has not been elucidated, and germline variants in SRRM1 ...
Marco Tartaglia,Andrea Ciolfi
Marco Tartaglia
Novel 4400-year-old ancestral component in a tribe speaking a Dravidian language [0.03%]
印度一支讲德拉威语部落中发现的新4400年前的祖先成分
Jaison Jeevan Sequeira,Swathy Krishna M,George van Driem et al.
Jaison Jeevan Sequeira et al.
Research has shown that the present-day population on the Indian subcontinent derives its ancestry from at least three components identified with pre-Indo-Iranian agriculturalists once inhabiting the Iranian plateau, pastoralists originatin...
RP9 revisited; RP9 p.(H137L) remains a likely cause of dominant splicing factor-Retinitis Pigmentosa [0.03%]
重新评估RP9；RP9 p.(H137L)仍然是 dominantsplicing factor-视网膜色素变性的可能原因
Leon Chang,James A Poulter,Andrew R Webster et al.
Leon Chang et al.
Variants in six pre-mRNA processing factors cause autosomal dominant Retinitis Pigmentosa (adRP). The RP9 gene encodes a seventh splicing factor, and in 2002, we published RP9 variants c.410A>T; p.(H137L) and c.509A>G; p.(D170G) as likely c...
A missense variant in the KH0-domain of FMRP downregulates the protein in a patient with the clinical hallmarks of fragile X syndrome [0.03%]
FMRP KH结构域错义突变通过降低蛋白表达导致脆性X综合征表型
Claudio Peter D&#x;Incal,Bram Dierickx,Claudia Vingerhoets et al.
Claudio Peter D&#x;Incal et al.
The majority of patients affected by fragile X syndrome (OMIM #300624), a common inherited form of autism spectrum disorders and intellectual disability, displays a CGG triplet repeat expansion in the Fragile X messenger ribonucleoprotein 1...
Nanopore long-read sequencing for the critically ill facilitates ultrarapid diagnostics and urgent clinical decision making [0.03%]
纳米孔长读段测序在重症监护中的应用促进了快速诊断和紧急临床决策制定
Daphne J Smits,Federico Ferraro,Mark Drost et al.
Daphne J Smits et al.
Critically ill pediatric patients often have genetic disorders requiring a rapid diagnosis to guide urgent care decisions. Standard genetic testing typically takes weeks and requires multiple tests. Nanopore long-read genome sequencing (LR-...