Catatonia and regression in an autism spectrum disorder patient harbouring a BRSK2 frameshift mutation [0.03%]
携带BRSK2移码突变的自闭症谱系障碍患者的类木僵和退行性行为
Andrea Lautato Sertié,Raphaella Josino,Vitória Rezende Goll et al.
Andrea Lautato Sertié et al.
Deleterious variants in the BRSK2 gene, which encodes a serine/threonine kinase crucial for neuronal polarisation and brain development, have recently been linked to the pathogenesis of autism spectrum disorder (ASD). However, comprehensive...
Obstetric history of women with m.3243A>G: an observational cohort study [0.03%]
线粒体DNA 3243A>G突变型女性的产科史：一项队列观察研究
Petra Kuikka,Hilkka Nikkinen,Kari Majamaa et al.
Petra Kuikka et al.
Background: Mitochondrial diseases are genetic disorders arising from pathogenic variants in nuclear or mitochondrial DNA (mtDNA) characterised by respiratory chain dysfunction. Clinical manifestations are diverse, and tr...
Haplotype studies and the use of a nearby tagging variant confirm a founder origin for an intragenic CYP11B1 inversion [0.03%]
合子型研究及利用附近标记变异确认了一个内基因CYP11B1倒位的谱系起源
Alistair T Pagnamenta,Timothy S Hall,Caroline F Wright et al.
Alistair T Pagnamenta et al.
Evidence for pathogenicity of BRCA2 c.8351G>A p.(Arg2784Gln) and the challenges in classification of pathogenic variants with reduced penetrance [0.03%]
BRCA2 c.8351G>A p.(Arg2784Gln)致病性的证据及其降低外显率致病变异分类的挑战
Setareh Moghadasi,Maria Zanti,Fonnet Bleeker et al.
Setareh Moghadasi et al.
Background: The BRCA2 c.8351G>A p.(Arg2784Gln) variant has long been classified as a variant of uncertain significance (VUS) due to conflicting evidence used in variant classification. This study aims to clarify its patho...
Analysis of familial exudative vitreoretinopathy (FEVR) cases in the UK 100 000 genomes project increases diagnostic rate and implicates heterozygous CTNND1 mutations in FEVR [0.03%]
对英国“十万基因组计划”中的家族性渗出性玻璃体视网膜病变（FEVR）病例进行分析，提高诊断率，并提示CTNND1杂合突变与FREVR相关
Dong Sun,Robert H Henderson,Emma Clement et al.
Dong Sun et al.
Background: Familial exudative vitreoretinopathy (FEVR) is an inherited eye disease characterised by the incomplete development of the retinal vasculature. Over 10 genes have been associated with FEVR, but there are still...
Sequencing every UK newborn: why cold storage economics should shape policy [0.03%]
排序每一个英国新生儿：为什么冷存储经济学应该塑造政策
Timothy Hearn
Timothy Hearn
Whole-genome sequencing (WGS) for every UK newborn is hailed as a leap towards lifelong personalised medicine, yet policymakers have scarcely examined the informatics iceberg beneath the initiative: where, and at what cost, will millions of...
Challenges associated with disclosing results from whole genome sequencing to diagnose paediatric rare diseases: analysis of parent-clinician interactions [0.03%]
全基因组测序诊断儿童罕见病结果披露的相关挑战：家长与临床医生互动分析
Holly Ellard,Jhumana Ali,Phoebe Buxton et al.
Holly Ellard et al.
Background: Whole genome sequencing (WGS) has recently been introduced as a diagnostic test for patients with particular rare diseases in the National Health Service (NHS) in England. Little is known about the process of ...
Intragenic loss-of-function variants in transcription factors MAZ, FOXP1 and SIN3B in colobomatous microphthalmia [0.03%]
转录因子MAZ、FOXP1和SIN3B的内含子功能丧失变异与视网膜缺损小眼症相关
Sarah E Seese,Linda M Reis,Adele Schneider et al.
Sarah E Seese et al.
Despite the identification of many genes involved in developmental eye phenotypes, a large percentage of families lack genetic diagnoses, suggesting novel mechanisms remain to be discovered. Large deletions of 16p11.2, 3p14 or 19p13.11 regi...
Association for Clinical Genomic Science (ACGS) guidelines for the classification of oncogenicity of somatic variants in cancer: recommendations by the UK somatic variant interpretation group (SVIG-UK) [0.03%]
英国体细胞变异解读小组（SVIG-UK）关于癌症中体细胞性变体致癌性的分类的临床基因组科学协会（ACGS）指导原则建议
George J Burghel,Joanne Mason,Kevin Baker et al.
George J Burghel et al.
Comprehensive genomic testing in routine cancer care pathways has created the need to interpret the consequences of somatic (acquired) genomic variants beyond the currently well-characterised driver variants in cancer gene hotspots. While s...
ACTH-secreting atypical carcinoid lung tumour expanding the Lynch syndrome spectrum [0.03%]
一种罕见的肺类癌肿瘤分泌促肾上腺皮质激素扩大林奇综合征的范围
Kevin Van Compernolle,Jacques Van Huysse,Kathleen B M Claes et al.
Kevin Van Compernolle et al.
Neuroendocrine tumours (NETs) are increasingly associated with Lynch syndrome (LS). In this autosomal dominant cancer predisposition syndrome, a somatic mutation in addition to a germline pathogenic variant is required for tumour developmen...