A novel HRAS c.466C>T p.(Phe156Leu) variant in two patients with attenuated features of Costello syndrome [0.03%]
两个具有轻度科斯特洛综合征特征的患者的新型HRAS c.466C>T p.(Phe156Leu)变异
Suzanna Lindsey-Temple,Matt Edwards,Verena Rickassel et al.
Suzanna Lindsey-Temple et al.
Costello syndrome (CS) is caused by heterozygous HRAS germline mutations. Most patients share the HRAS variant p.Gly12Ser that is associated with a typical, homogeneous phenotype. Rarer pathogenic HRAS variants (e.g., p.Thr56Ile) were ident...
Gaspard Kerner,Lluis Quintana-Murci
Gaspard Kerner
Devastating pandemics, such as that due to COVID-19, can provide strong testimony to our knowledge of the genetic and evolutionary determinants of infectious disease susceptibility and severity. One of the most remarkable aspects of such ou...
Incidence of Duchenne muscular dystrophy in the modern era; an Australian study [0.03%]
澳大利亚杜氏肌营养不良的发病率研究
Didu Kariyawasam,Arlene D&#x;Silva,David Mowat et al.
Didu Kariyawasam et al.
Duchenne muscular dystrophy (DMD), an X-linked recessive condition is maternally inherited in two-thirds of affected boys. It is important to establish carrier status of female relatives to restore reproductive confidence for non-carriers a...
Estimation of the number of inherited prion disease mutation carriers in the UK [0.03%]
估算英国遗传性人朊病突变携带者数量
Rosie Corbie,Tracy Campbell,Lee Darwent et al.
Rosie Corbie et al.
Inherited prion diseases (IPD) are a set of rare neurodegenerative diseases that are always caused by mutation of the prion protein gene (PRNP). These are highly heterogeneous in clinical presentation and best described by the specific gene...
Rapid exome sequencing in critically ill infants: implementation in routine care from French regional hospital's perspective [0.03%]
重症婴儿快速外显子组测序：从法国地区医院的角度看常规护理中的实施情况
Constance F Wells,Guilaine Boursier,Kevin Yauy et al.
Constance F Wells et al.
This monocentric study included fifteen children under a year old in intensive care with suspected monogenic conditions for rapid trio exome sequencing (rES) between April 2019 and April 2021. The primary outcome was the time from blood sam...
Giovanni Corso
Giovanni Corso
Ethical, legal and social/societal implications (ELSI) of recall-by-genotype (RbG) and genotype-driven-research (GDR) approaches: a scoping review [0.03%]
基于基因型召回(RbG)和以基因型为导向的研究(GDR)方法的伦理、法律及社会影响(ELSI): 系统综述
Katharina Tschigg,Luca Consoli,Roberta Biasiotto et al.
Katharina Tschigg et al.
Recall by Genotype (RbG), Genotype-driven-recall (GDR), and Genotype-based-recall (GBR) strategies are increasingly used to conduct genomic or biobanking sub-studies that single out participants as eligible because of their specific individ...
Quality of life, illness perceptions, and parental lived experiences in TANGO2-related metabolic encephalopathy and arrhythmias [0.03%]
TANGO2相关代谢性脑病和心律失常的生活质量、疾病认知及父母的亲身经历
Chaya N Murali,Seema R Lalani,Mahshid S Azamian et al.
Chaya N Murali et al.
TANGO2 disorder is a rare genetic disease with multi-system effects that causes episodic crises. Quality of life and psychosocial effects of this rare disease have not previously been studied. To examine health-related quality of life (HRQo...
Functional characterization of a novel p.Ser76Thr variant in IGFBP4 that associates with body mass index in American Indians [0.03%]
功能性表征IGFBP4中的一种新型p.Ser76Thr变异体与美国原住民体质指数的关系
Yunhua L Muller,Michael Saporito,Samantha Day et al.
Yunhua L Muller et al.
Insulin-like growth factor binding protein 4 (IGFBP4) is involved in adipogenesis, and IGFBP4 null mice have decreased body fat through decreased PPAR-γ expression. In the current study, we assessed whether variation in the IGFBP4 coding r...
Alisdair McNeill
Alisdair McNeill