Impact of variants of uncertain significance on decision making about genetic testing for Hispanic males [0.03%]
不确定意义变异对西班牙裔男性遗传咨询和检测决策的影响
Jasmine Saunders,Veda N Giri,Susan Vadaparampil et al.
Jasmine Saunders et al.
Purpose: Underutilization of genetic testing among Hispanic males results in higher rates of variants of uncertain significance (VUS). We examined the impact of VUS on decision making and behavioral intentions. ...
Methodology of DNA extraction and sequencing from living cardiomyocytes collected by catheter in humans [0.03%]
人类活检心肌细胞的DNA提取及测序方法学研究
Flavie Ader,Céline Guilbeau-Frugier,Emeline Lhuillier et al.
Flavie Ader et al.
Purpose: We present here the technical feasibility of percutaneously retrieving cardiomyocytes (CMs) through the lumen of irrigated ablation catheters, with the aim of obtaining DNA of sufficient quality/quantity for allo...
Early initiation of enzyme replacement therapy as facilitated by newborn screening improves health outcomes among patients with infantile-onset Pompe disease [0.03%]
新生儿筛查可促进早期开展酶替代治疗 提高婴儿期发病庞贝病患者的健康结局
Ankit K Desai,Eleanor Rodriguez-Rassi,Suhag Parikh et al.
Ankit K Desai et al.
Purpose: To assess the benefits of early enzyme replacement therapy (ERT) in patients with infantile-onset Pompe disease (IOPD). Methods: ...
Medical genetics needs assessment: An online cross-sectional survey from Nepal [0.03%]
尼泊尔医学遗传学需求评估的一项在线横断面调查研究
Pratiksha Gyawali,Binaya Shrestha,Kelly Beharry et al.
Pratiksha Gyawali et al.
Purpose: Medical genetic services remain limited in low- and middle- income countries, such as Nepal, leading to poor health outcomes for individuals affected by genetic disorders. This study aimed to assess perspective a...
CFTR rescue in W1282X cystic fibrosis patient-derived intestinal organoids (PDIOs) mediated by translational readthrough-inducing drugs (TRIDs) [0.03%]
W1282X囊性纤维化患者衍生肠类器官（PDIO）中利用翻译延伸诱导药物（TRID）修复CFTR蛋白质疗法
Riccardo Perriera,Anabela S Ramalho,Francois Vermeulen et al.
Riccardo Perriera et al.
Purpose: Pathogenic variants in the cystic fibrosis transmembrane conductance regulator (CFTR) gene result in dysfunctions of the CFTR protein, leading to cystic fibrosis (CF). This genetic disorder is characterized by se...
ApplyPolygenicScore: An R package for applying polygenic risk score models [0.03%]
应用多基因评分模型的R语言软件包ApplyPolygenicScore
Nicole Zeltser,Rachel M A Dang,Rupert Hugh-White et al.
Nicole Zeltser et al.
Purpose: A polygenic score (PGS) predicts an individual's genetic predisposition to a complex trait. A PGS is created by estimating the relative contributions of multiple common variants to the overall trait, creating a p...
Perspectives from the 2024 International Consortium for Spinal Genetics, Development and Disease (ICSGDD) [0.03%]
2024国际脊柱遗传、发育与疾病联盟(ICSGDD)大会展望
Nan Wu,Nancy Hadley-Miller,Ryan Gray et al.
Nan Wu et al.
Functional analysis of FH variants of uncertain significance using Caenorhabditis elegans model [0.03%]
使用Caenorhabditis elegans模型分析功能不确定意义的FH变异体的功能效应
Suzanne Ferris,Ivette M Menendez Perdomo,Maja Tarailo-Graovac
Suzanne Ferris
Purpose: Variants of uncertain significance (VUS) in the essential metabolic gene fumarase (FH) have hampered diagnosis for patients with FH-associated diseases. Yet, early intervention is crucial for disease management, ...
Impact of genomic sequencing information on physicians' treatment recommendations for children with congenital heart disease [0.03%]
基因组测序信息对先天性心脏病儿童治疗建议的影响
Danton S Char,Natalie T Deuitch,Matthew K Berent et al.
Danton S Char et al.
Purpose: Genomic sequencing (GS) is increasingly part of diagnostic evaluations of children with congenital heart disease (CHD). Past research suggests that clinicians might envision the most immediate benefits of GS to b...
Childhood outcomes of fetal genomic copy-number variants: The prenatal microarray cohort study [0.03%]
胎儿基因组拷贝数变异的儿童期结局：产前基因芯片队列研究
Jacqui McCoy,Cecilia Pynaker,Sharon Lewis et al.
Jacqui McCoy et al.
Purpose: The long-term developmental outcomes of children with a prenatal diagnosis of a copy-number variant of uncertain significance (VUS) remain unclear. This study compared the developmental, social-emotional, and hea...