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 ...
Bryn D Webb,Julie A Jurgens,Narisu Narisu et al.
Bryn D Webb et al.
Purpose: To explore the phenotypic spectrum and genetic etiologies of Moebius Syndrome (MBS), a rare neurological disorder defined by congenital, nonprogressive facial weakness and limitations in ocular abduction. ...
Lenmeldy (atidarsagene autotemcel) for individuals with early metachromatic leukodystrophy (MLD): A therapeutics bulletin of the American College of Medical Genetics and Genomics (ACMG) [0.03%]
早发性metachromatic白质营养不良（MLD）患者的lenmeldy（造血干细胞移植）：美国医学遗传学院（ACMG）治疗通报
Rahaman Navaz Gangji,Qais Abu Ali,Radhika Dhamija et al.
Rahaman Navaz Gangji et al.
Successes of an innovative population-based carrier screening program for 4 prevalent recessive hereditary diseases in a population with a founder effect in Quebec, Canada [0.03%]
加拿大魁北克一个具有遗传效应的群体中四种常见隐性遗传病创新性的基于人口携带者筛查项目的成功经验
Carol-Ann Fortin,Mélanie Côté-Richer,Karine Truchon et al.
Carol-Ann Fortin et al.
Purpose: The Saguenay-Lac-Saint-Jean, Haute-Côte-Nord, and Charlevoix regions in Canada have a high prevalence of 4 autosomal recessive diseases with high morbidity and/or reduced life expectancy. As a result, a carrier ...
Early diagnosis of vascular Ehlers-Danlos syndrome through AI-powered facial analysis: Results from the Montalcino Aortic Consortium [0.03%]
人工智能面部分析早期诊断血管型埃勒斯-丹洛斯综合征：蒙塔尔奇诺主动脉联盟的结果
David R Murdock,Adarsh Suresh,Ernesto Calderon Martinez et al.
David R Murdock et al.
Purpose: Vascular Ehlers-Danlos syndrome (vEDS), which is caused by COL3A1 pathogenic variants, is a rare heritable aortic and arterial disorder associated with early mortality, mainly due to spontaneous vascular dissecti...