Jolien Huyghebaert,Bregje Christiaenssen,Marjan De Rademaeker et al.
Jolien Huyghebaert et al.
In this study, we employed a multifaceted approach combining short-read whole genome sequencing (WGS) analyzed using Delly, cytogenomics using Bionano technology, and Sanger sequencing to identify the breakpoints of a balanced de novo parac...
Short-term Efficacy of Tofacitinib, a JAK Inhibitor, in IFIH1-related Aicardi-Goutières Syndrome [0.03%]
JAK抑制剂Tofacitinib在IFIH1相关Aicardi-Goutières综合征中的短期疗效研究
Ling Hou,Peng Zhou,Yue Du et al.
Ling Hou et al.
Aicardi-Goutières syndrome (AGS) is a genetically heterogeneous type-I interferonopathy presenting in infancy with intracranial calcifications, white matter lesions, and brain atrophy. AGS7, caused by gain-of-function (GOF) mutations in th...
Public attitudes towards disclosure of genetic risk in the family: a survey in a sample of the Portuguese general population [0.03%]
家庭中遗传风险披露的公众态度：一项葡萄牙普通人群调查研究
Iara Ribeiro,João Tavares,Liliana Sousa et al.
Iara Ribeiro et al.
Genetic and genomic testing often have implications not only for the individual tested but also for their genetic relatives. This study aims to characterize public attitudes toward the familial disclosure of genetic risks. An online survey ...
Early onset basal cell carcinoma: Consider Bazex-Dupré-Christol syndrome [0.03%]
早发基底细胞癌：考虑Bazex-Dupré-Christol 综合征
Aislinn Cragg,David Hunt,Hywel Cooper et al.
Aislinn Cragg et al.
Bazex-Dupré-Christol syndrome is a rare genetic condition characterised by basal cell carcinomas, follicular atrophoderma and hypotrichosis. Until recently the molecular basis of the condition was largely unknown. A recent study has identi...
Seven loci associated with schizophrenia and bipolar I disorder in selected southern African population groups [0.03%]
在南部非洲特定人群里与精神分裂症和I型双相障碍相关的七个位点
Schneider Sue-Rica,Spies Johannes Jacobus,Pretorius Paul Janus et al.
Schneider Sue-Rica et al.
Two major psychiatric disorders, schizophrenia and bipolar I disorder, are regarded as distinct disorder entities; however, they share intricate connections through characteristic overlap and underlying genetic aetiology, challenging the tr...
Oxford Nanopore long-read sequencing with CRISPR/Cas9-mediated target selection for accurate characterization of copy number variants in the LDLR gene [0.03%]
使用CRISPR/Cas9介导的目标选择进行牛津纳米孔长读测序，以准确表征LDLR基因中的拷贝数变异
Robin A Pilz,Dariush Skowronek,Loisa D Bonde et al.
Robin A Pilz et al.
Introduction: Familial hypercholesterolemia (FH) affects around 1 in 250 people. Most FH cases are caused by pathogenic LDLR variants, with copy number variations (CNVs) accounting for about 10 %. However, short-read gene...
Variability in Autism Spectrum Phenotypes Linked to Heterozygous Missense Familial ANK2 Mutation [0.03%]
与异源错义家族ANK2突变相关的自闭症谱系表型的多样性
R Garotti,M Marino,M P Riccio et al.
R Garotti et al.
Autism Spectrum Disorder (ASD) is to date considered a disorder with a complex aetiology that recognizes both genetic and environmental risk factors. The role of the genetic contribution is progressively and significantly increasing, and la...
Tailoring Monogenic Disease Carrier Screening Panels for Chinese Populations: The Importance of Considering Regional Differences [0.03%]
为中国人群量身定制单基因疾病携带者筛查方案：考虑地区差异的重要性
Wei Hou,Xiaolin Fu,Xiaoxiao Xie et al.
Wei Hou et al.
Carrier screening for monogenic diseases is becoming increasingly important in preventive medicine, yet selecting appropriate target genes remains a complex task, especially in countries with significant ethnic and geographic diversity such...
Co-occurring non-urinary congenital anomalies among cases with congenital anomalies of the kidney and urinary tract [0.03%]
伴有肾和泌尿道先天性异常的非泌尿系统共存的先天性异常
Claude Stoll,Beatrice Dott,Yves Alembik et al.
Claude Stoll et al.
Cases with congenital anomalies of kidney and urinary tract (CAKUT) often have other associated anomalies. The purpose of this investigation was to assess the prevalence and the types of associated anomalies in CAKUT in a well-characterized...
Cardiogenetics and uncertainty: evaluation of professional vulnerability in France [0.03%]
心血管遗传学与不确定性：评估法国的职业脆弱性
Lea Gaudillat,Lea Patay,Caroline Sawka et al.
Lea Gaudillat et al.
Scientific advances in genomics are transforming healthcare and prevention. However, they also increase situations of uncertainty, which in turn increase vulnerability not only for patients and their families but also for professionals. Car...