Factors affecting couples' decision making about expanded prenatal cell-free DNA screening [0.03%]
影响夫妻进行扩展孕产妇无细胞脱氧核糖核酸筛查决策的因素分析
Kelsey Mumford,Saskia Hendriks,Skye Miner et al.
Kelsey Mumford et al.
Purpose: To assess intended parents' preferences about expanded prenatal cell-free DNA screening. Methods: A survey was administered to...
Informal Prenatal Genetic Screening Education: What can you learn from Google and YouTube? [0.03%]
孕妇的非正式产前基因筛查教育：你能从Google和YouTube上学到什么？
Erin P Johnson,Naomi O Riches,Marwa W Aljardali et al.
Erin P Johnson et al.
Introduction: The goal of this paper is to explore what online education and decision support tools are freely available to patients about prenatal screening. ...
Clinical RNA sequencing clarifies variants of uncertain significance identified by prior testing [0.03%]
临床RNA测序阐明先前检测中发现的变异意义不确定型
Jonathan Marquez,Jennifer N Cech,Cate R Paschal et al.
Jonathan Marquez et al.
Purpose: Sequencing-based genetic testing often identifies variants of uncertain significance (VUS) or fails to detect pathogenic variants altogether. We evaluated the utility of RNA sequencing (RNA-seq) to clarify VUS or...
3-hour genome sequencing and targeted analysis to rapidly assess genetic risk [0.03%]
三小时基因组测序及定向分析以快速评估遗传风险
Miranda Pg Zalusky,Jonas A Gustafson,Stephanie C Bohaczuk et al.
Miranda Pg Zalusky et al.
Purpose: Rapid genetic testing in the critical care setting may guide diagnostic evaluation, direct therapies, and help families and care providers make informed decisions about goals of care. We tested whether a simplifi...
Detection of mosaic chromosomal alterations in children with severe developmental disorders recruited to the DDD study [0.03%]
英国发育障碍研究中儿童镶嵌性染色体异常的检测结果
Ruth Y Eberhardt,Caroline F Wright,David R FitzPatrick et al.
Ruth Y Eberhardt et al.
Purpose: Structural mosaicism has been previously implicated in developmental disorders. We aimed to identify rare mosaic chromosomal alterations (MCAs) in probands with severe undiagnosed developmental disorders. ...
Regulatory elements in SEM1-DLX5-DLX6 (7q21.3) locus contribute to genetic control of coronal nonsyndromic craniosynostosis and bone density-related traits [0.03%]
位于SEM1-DLX5-DLX6（7q21.3）位点的调控元件对冠状非综合征性颅缝早闭及骨密度相关表型具有遗传调控作用
Paola Nicoletti,Samreen Zafer,Lital Matok et al.
Paola Nicoletti et al.
Purpose: The etiopathogenesis of coronal nonsyndromic craniosynostosis (cNCS), a congenital condition defined by premature fusion of 1 or both coronal sutures, remains largely unknown. ...
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...