Acceptability of newborn screening for spinal muscular atrophy: views of the UK public, screened families, health professionals and the SMA community [0.03%]
英国公众、接受筛查家庭、卫生专业人员及脊髓性肌萎缩症社群对新生儿筛查脊髓性肌萎缩症可接受性的看法
Felicity Boardman,Rebecca Howitt,Philip Young et al.
Felicity Boardman et al.
With the advent of novel gene therapies, rare genetic diseases once lacking treatments are now being considered for newborn screening programmes (NBS). Wilson and Jungner criteria (drawn on worldwide to guide screening programme evaluation)...
How variant discovery redefines genetic prevalence: the case of cystine stone disease [0.03%]
变异发现如何重新定义遗传病的流行率：胱氨酸结石病案例分析
Chen-Han Wilfred Wu,Joshua Chang,Katreya Lovrenert et al.
Chen-Han Wilfred Wu et al.
Cystine stones are caused by pathogenic variants in SLC3A1 or SLC7A9. Our prior study revealed a large gap between genetic and clinical prevalence. With increasing discovery of novel variants, we aim to assess how these impact genetic preva...
Variants in the CxxC domain of the epigenetic regulator KDM2B support its role in developmental eye anomalies [0.03%]
染色质调节因子KDM2B的CxxC结构域变异支持其在发育性眼异常中的作用
Fabiola Ceroni,Linda M Reis,Fiona Watkins et al.
Fabiola Ceroni et al.
KDM2B encodes an epigenetic regulator that binds to promoter-associated CpG islands via its CxxC zinc-finger domain, protecting them from DNA methylation. It also helps establish transcriptional programs essential for development by recruit...
Seda S Zonuzi
Seda S Zonuzi
Correction: Comprehensive analysis of CNOT3-related neurodevelopmental disorders: phenotypic and genotypic characterization [0.03%]
Correction: CNOT3相关神经发育障碍的综合分析：表型和基因型特征的特征化
Camille Engel,Michaela Rendek,Jessica Assoumani et al.
Camille Engel et al.
Published Erratum
European journal of human genetics : EJHG. 2026 Apr 2. DOI:10.1038/s41431-026-02087-w 2026
Correction: The development and usability of 'The Genetics Navigator': a digital solution for adult and paediatric clinical genetics services [0.03%]
纠正：《遗传导航者》的开发和可用性：成人和儿科临床遗传学服务的数字解决方案
Saumeh Saeedi,Daena Hirjikaka,Marc Clausen et al.
Saumeh Saeedi et al.
Published Erratum
European journal of human genetics : EJHG. 2026 Apr 2. DOI:10.1038/s41431-026-02094-x 2026
Pharmacogenetic testing in Italy: results of a nationwide survey by the Joint Working Group for the pharmacogenetics implementation in Italy [0.03%]
意大利全国范围内关于药物基因分型检测的调查结果——由实施药物基因分型联合工作组发起
Rossana Roncato,Samantha Perfler,Martina Gambron et al.
Rossana Roncato et al.
Pharmacogenetics enables personalization of drug therapy based on an individual's genetic profile. Despite clinical relevance, implementation of pharmacogenetics remains limited. In Italy, integration is fragmented, with heterogeneous pract...
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声明
Matteo Floris,Antonino Moschella,Mario Capasso et al.
Matteo Floris et al.
The Italian Society of Human Genetics (SIGU) Working Group on Pharmacogenomics has released recommendations for the implementation, interpretation and reporting of germline pharmacogenetic testing in clinical practice within the Italian Nat...
Correction: 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%]
纠正：KH结构域中的错义变异导致FMRP蛋白表达下调并引起脆性X综合征的临床症状
Claudio Peter D&#x;Incal,Bram Dierckx,Claudia Vingerhoets et al.
Claudio Peter D&#x;Incal et al.
Published Erratum
European journal of human genetics : EJHG. 2026 Mar 31. DOI:10.1038/s41431-026-02095-w 2026
Barbara Rivera,Giovana Tardin Torrezan,Carla Roca et al.
Barbara Rivera et al.
Rare tumours are variously defined but usually affect not more than 1 in 100000 people. They can be present at birth, in childhood or later in life. The diagnosis of a rare tumour can sometimes point to an underlying hereditary condition, a...