Clinical variants in Caenorhabditis elegans expressing human STXBP1 reveal a novel class of pathogenic variants and classify variants of uncertain significance [0.03%]
秀丽隐杆线虫表达人类STXBP1的临床变异体揭示了一种新型致病变异体并分类意义未明变异体
Christopher E Hopkins,Kathryn McCormick,Trisha Brock et al.
Christopher E Hopkins et al.
Purpose: Modeling disease variants in animals is useful for drug discovery, understanding disease pathology, and classifying variants of uncertain significance (VUS) as pathogenic or benign. ...
A scoping review exploring cure definitions and language for inherited hemoglobinopathies [0.03%]
一项界定探究性研究：遗传性血红蛋白病的治愈定义和语言
Marilyn S Baffoe-Bonnie,K Jameson Floyd,Alicia A Livinski et al.
Marilyn S Baffoe-Bonnie et al.
Purpose: Sickle cell disease and beta thalassemia are some of the first targets for potentially curative cell-based therapies. Currently, bone marrow transplants, stem cell transplants, and gene therapy are being research...
Primary care providers' preferences for the communication and management of actionable genomic findings from a research biobank [0.03%]
初级保健提供者对研究生物库中可操作基因组发现的沟通和管理的偏好
Elizabeth L Kudron,Sridharan Raghavan,Yee Ming Lee et al.
Elizabeth L Kudron et al.
Purpose: Little is known about non-genetics health care specialists' attitudes toward the return and utilization of actionable genomic results from a research biobank. We surveyed primary care providers (PCPs) to explore ...
Biallelic variants in the calpain regulatory subunit CAPNS1 cause pulmonary arterial hypertension [0.03%]
钙蛋白酶调节亚基CAPNS1的双等位基因变异导致肺动脉高压
Alex V Postma,Christina K Rapp,Katrin Knoflach et al.
Alex V Postma et al.
Purpose: The aim of this study was to identify the monogenic cause of pulmonary arterial hypertension (PAH), a multifactorial and often fatal disease, in 2 unrelated consanguine families. ...
Large-scale evaluation of outcomes after a genetic diagnosis in children with severe developmental disorders [0.03%]
儿童严重发育障碍遗传诊断结果的大规模评估研究
Purpose: We sought to evaluate outcomes for clinical management after a genetic diagnosis from the Deciphering Developmental Disorders study. Methods: ...