Bahareh A Mojarad,Patricia V Hernandez,Michael J Evenson et al.
Bahareh A Mojarad et al.
Purpose: Variants in PIK3CA (encoding p110α; the catalytic subunit of PI3K) characterize some disorders of somatic mosaicism (DoSM) conditions with clinical features, including sporadic overgrowth and vascular malformati...
Omaveloxolone approved for patients aged 16 years and older with Friedreich ataxia (FRDA): A therapeutics bulletin of the American College of Medical Genetics and Genomics (ACMG) [0.03%]
用于治疗16岁及以上弗里德reich共济失调患者的 Omaveloxolone：美国医学遗传学与基因组学学院（ACMG）的药物通报
Arthur Lenahan,Sho Yano,Brett Graham et al.
Arthur Lenahan et al.
Nicholas A Borja,Samantha A Schrier Vergano,Mustafa Tekin
Nicholas A Borja
Coffin-Siris syndrome (CSS) is a rare neurodevelopmental disorder that is associated with multiple congenital anomalies and caused by de novo monoallelic germline pathogenic variants in BAF-complex genes. Despite their function as tumor sup...
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...