Cipaglucosidase alfa and miglustat for treatment of late-onset Pompe disease (LOPD): A therapeutics bulletin of the American College of Medical Genetics and Genomics (ACMG) [0.03%]
艾帕苷α和米格苏替拉治疗庞贝病(晚发型)：美国医学遗传学院的治疗公告
Elizabeth K Baker,Allyson Derry,Jennifer L Cohen et al.
Elizabeth K Baker et al.
Pathogenic variation underlying rare diseases in an Arab population: Implications for screening programs [0.03%]
一个阿拉伯人群中的罕见疾病致病因素及其对筛查项目的意义
Ruchi Jain,Sami Bizzari,Sathishkumar Ramaswamy et al.
Ruchi Jain et al.
Purpose: Genetic variation underlying rare diseases in Arab populations is poorly understood limiting effective carrier screening for recessive disorders, which are prevalent because of high consanguineous rates. ...
Serum neurofilament light protein as a biomarker in Niemann-Pick disease, type C1 [0.03%]
神经filament轻链蛋白作为尼曼匹克病C1型的生物标记物
Niamh X Cawley,Ruyu Zhou,Avani Mylvara et al.
Niamh X Cawley et al.
Purpose: Niemann-Pick disease, type C1 (NPC1) is a fatal, neurodegenerative disease caused by pathological variants in NPC1. Analysis of serum neurofilament light (NfL), a marker of neuronal damage, could be useful as a b...
Implementation of genetic testing for heritable cardiac conditions: A scoping review [0.03%]
遗传学检测在遗传性心脏病中的应用：一项概要性评论
Ana Morales,Jessica Goehringer,Paige L McDonald et al.
Ana Morales et al.
Purpose: We aimed to identify themes and knowledge gaps about the current state of cardiovascular genetic testing implementation from the nongenetics clinician's perspective. ...
When families bridge the research-clinical divide: An exploration of values regarding cascade screening in genomic research [0.03%]
当家庭弥合研究-临床分歧时：关于基因组研究中cascade筛查的价值观念的探索
Katherine E Bonini,Lauren R Desrosiers-Battu,Ann Katherine M Foreman et al.
Katherine E Bonini et al.
Purpose: Genetic results are important for both patients and their biological relatives. However, cascade screening (CS) uptake is low, especially when testing occurs through research programs and not clinical care. Ethic...
Laboratory considerations for GRCh37 to GRCh38 reference genome transition: A laboratory quality assurance bulletin of the American College of Medical Genetics and Genomics (ACMG) [0.03%]
从GRCh37到GRCh38参考基因组转换的实验注意事项：美国医学遗传学院（ACMG）实验室质量保证公告
Vimla S Aggarwal,Saurav Guha,Matthew S Lebo et al.
Vimla S Aggarwal et al.
A comparison of family health history of breast cancer, colorectal cancer, and diabetes in self-reported survey and electronic health records data, All of Us Research Program [0.03%]
基于自我报告调查和电子健康记录数据的乳腺癌、结直肠癌及糖尿病家族史对比研究——“我们所有人”科研项目
Ridgely Fisk Green,Ramal Moonesinghe,Sun Hee Rim et al.
Ridgely Fisk Green et al.
Purpose: We used data from the All of Us Research Program to examine sociodemographic differences in family health history (FHH) survey access, availability of electronic health records (EHR) data, FHH knowledge, FHH in t...
Educational videos in genetic counseling: Meeting patients where they are? [0.03%]
遗传咨询中的教育视频：在患者需要的地方提供帮助吗？
Julia Mahal,Carlotta J Mayer,Sebastian Sailer et al.
Julia Mahal et al.
Purpose: This study examined the effects of self-developed educational videos on patient satisfaction and the physician-patient relationship in genetic outpatient clinics. ...
Real-world treatment with elosulfase alfa in patients with MPS IVA is associated with improved endurance over time [0.03%]
真实世界中使用伊洛硫酸酯α治疗摩病IVA型患者的耐受性逐步提高
Barbara K Burton,Karolina M Stepien,Philippe M Campeau et al.
Barbara K Burton et al.
Purpose: To assess the real-world effectiveness of enzyme replacement therapy (ERT; elosulfase alfa) on endurance in the treatment of mucopolysaccharidosis type IVA (MPS IVA) using cross-sectional data. ...
Genomic insights into Rett syndrome-like features in Bangladeshi participants [0.03%]
孟加拉国参与者的雷特综合征样特征的基因组洞察
Hosneara Akter,Muhammad Mizanur Rahman,Rabeya Akter Mim et al.
Hosneara Akter et al.
Purpose: Rett syndrome (RTT) is a neurological disorder marked by the loss of developmental milestones. Classic RTT involves variants in the methyl-CpG-binding protein 2 (MECP2) gene. Our study examines the genetic basis ...