Expert opinion on facilitating intrafamily communication in rare diseases-Lessons from Fabry disease [0.03%]
罕见病促进家庭内部交流的专家意见——法布雷病患者的启示
Dominique P Germain,Fatma Al-Jasmi,Gheona Altarescu et al.
Dominique P Germain et al.
Clinical and genetic spectrum of Fanconi anemia in Australia and New Zealand [0.03%]
澳大利亚和新西兰Fanconi贫血的临床和基因谱系
Hannah Fluhler,Elissah Granger,Michael Sharp et al.
Hannah Fluhler et al.
Purpose: Fanconi anemia (FA) is a rare genetic condition that predisposes to progressive bone marrow failure, a specific spectrum of malignancies, including head and neck squamous cell carcinoma, and an array of other cli...
An evaluation of genetic predisposition to congenital anomalies and pediatric cancer supports KAT6B as a novel neuroblastoma susceptibility gene [0.03%]
遗传易感性评估支持KAT6B是儿童肿瘤和先天畸形的新型神经母细胞瘤易感基因
Hyunjung Gu,Yao Yu,Saumya Dushyant Sisoudiya et al.
Hyunjung Gu et al.
Purpose: Although congenital anomalies are among the strongest risk factors for developing pediatric cancer, the genetic underpinnings remain unclear. Therefore, we evaluated germline susceptibility in children with conge...
Arimoclomol and levacetylleucine for the treatment of neurologic manifestations of Niemann-Pick disease type C: A therapeutics bulletin of the American College of Medical Genetics and Genomics (ACMG) [0.03%]
Niemann-Pick病C型神经表现的治疗：Arimoclomol和Levacecylleucine：美国医学遗传学院（ACMG）治疗通报
Jorge L Rodriguez-Gil,Wendy E Smith,Irene J Chang et al.
Jorge L Rodriguez-Gil et al.
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...