Clinical utility of runs of homozygosity in the identification of genetic causes in individuals with rare diseases [0.03%]
成段杂合度缺失在罕见病患者遗传病因识别中的临床应用价值
Theru A Sivakumaran,Bilal Azab,Emily Hershman et al.
Theru A Sivakumaran et al.
Purpose: To evaluate the clinical utility of runs of homozygosity (ROH) in identifying the genetic causes of rare diseases in our patient population. Meth...
Patient and providers' perspectives on using the GUÍA digital tool to enhance genomic results disclosure [0.03%]
患者和提供者关于使用GUÍA数字工具增强基因组结果披露的观点
Jacqueline A Odgis,Sabrina A Suckiel,Laura Golfinopoulos et al.
Jacqueline A Odgis et al.
Purpose: Genomic testing is expanding, yet disparities persist in result disclosure, particularly among diverse and bilingual populations. The Genomic Understanding, Information, and Awareness (GUÍA) digital tool was dev...
Trio exome analysis is a valuable tool for genetic diagnosis of epilepsy in Mali [0.03%]
Trio外显子组分析是马里癫痫基因诊断的有效工具
Salia Bamba,Lauren Jeffries,Salimata Diarra et al.
Salia Bamba et al.
Purpose: Trio exome sequencing is widely used for various disorders. We investigated the utility of this method to identify genetic causes of epilepsy in Mali. ...
Assessing completeness of cancer family history in EHRs using genetically defined kinships: A cross-sectional study [0.03%]
基于遗传定义的家系评估电子健康记录中的癌症家族史完整性：横断面研究
Daniel Kiser,Gai Elhanan,Karen A Schlauch et al.
Daniel Kiser et al.
Purpose: Family history (FHx) is the most widely available tool for reducing mortality and morbidity caused by heritable diseases. However, FHx may be inadequately documented. Our objective was to assess the rate at which...
Framework for standardized genetic testing recommendations for chronic kidney disease in Ontario [0.03%]
安大略省慢性肾脏疾病遗传检测建议标准化框架
Angela Du,Kaitlyn Lemay,Amit Bagga et al.
Angela Du et al.
Purpose: Genetic causes account for 10% to 20% of adult and 30% to 50% of pediatric chronic kidney disease (CKD). Patients with genetic CKD have a higher risk of progression to kidney failure. More than 500 genes are impl...
Rare variant genetic landscape of familial chylomicronemia syndrome (FCS) in the United Kingdom [0.03%]
英国 FamCS 少见变异的基因图谱
Bilal Bashir,Natalie Forrester,Paul Downie et al.
Bilal Bashir et al.
Purpose: Familial chylomicronemia syndrome (FCS) is a rare autosomal recessive disorder. This study aimed to analyze the genotype distribution of FCS-causing genes in the United Kingdom. ...
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. ...