First-Tier Next Generation Sequencing for Newborn Screening: An Important Role for Biochemical Second-Tier Testing [0.03%]
新生儿筛查中下一代测序的一线应用及生物化学二线检测的重要作用
Sarah L Stenton,Madelynn Campagna,Anthony Philippakis et al.
Sarah L Stenton et al.
There is discussion of expanding newborn screening (NBS) through the use of genomic sequence data; yet, challenges remain in the interpretation of DNA variants. Population-level DNA variant databases are available, and it is possible to est...
The challenges and opportunities of offering and integrating training in clinical molecular genetics and clinical cytogenetics: A survey of LGG Fellowship Program Directors [0.03%]
临床分子遗传学和临床细胞遗传学培训的挑战与机遇：LGG fellowship项目主任调查
Joshua L Deignan,Vimla Aggarwal,Allen E Bale et al.
Joshua L Deignan et al.
Purpose: The specialty of Laboratory Genetics and Genomics (LGG) was created in 2017 in an effort to reflect the increasing convergence in technologies and approaches between clinical molecular genetics and clinical cytog...
Blind to the perils of pursuing food: Behaviors of individuals with Smith-Magenis Syndrome [0.03%]
视而不见：史密斯-马格尼斯综合征患者的觅食行为及其危险性
Citrine Elatrash,Jenna Shi,Theresa Wilson et al.
Citrine Elatrash et al.
Purpose: Discrepancies exist between the need to lock food away and satiety scores in the Smith-Magenis syndrome (SMS) population. This study sought to uncover food-related behaviors within this unique group of individual...
A genome-first approach to characterize DICER1 pathogenic variant prevalence, penetrance and cancer, thyroid, and other phenotypes in 2 population-scale cohorts [0.03%]
在两个人群规模队列中采用以基因组为主的途径来表征DICER1致病性变异的流行率、外显率和癌症、甲状腺及其它表型特征
Jung Kim,Jeremy Haley,Jessica N Hatton et al.
Jung Kim et al.
Purpose: Population-scale, exome-sequenced cohorts with linked electronic health records (EHR) permit genome-first exploration of phenotype. Phenotype and cancer risk are well-characterized in children with a pathogenic D...
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: ...