A population-representative survey on attitudes toward genomic newborn screening in Germany [0.03%]
德国人口代表性群体关于新生儿基因组筛查态度的调查研究
Elena Sophia Doll,Karla Alex,Carlotta Julia Mayer et al.
Elena Sophia Doll et al.
Purpose: This study assessed general attitudes toward genomic newborn screening (gNBS) among the German public. Methods: In a populatio...
Clinical risk factors predicting likelihood of pathogenic genetic result in NICU patients [0.03%]
NICU患者致病性基因结果的临床预测因素
Joshua L Bonkowsky,Samuel B Zoucha,Jenna Jensen et al.
Joshua L Bonkowsky et al.
Purpose: Children with neonatal intensive care unit (NICU) admission have higher rates of genetic disease, but it is unclear which patients should have genetic testing. Our goal was to identify clinical predictors associa...
RNA-guided clarity: The potential for resolving variant uncertainty in clinical exome sequencing [0.03%]
RNA引导的明晰性：在临床外显子组测序中解决变异不确定性的潜力
Grace E VanNoy,Catherine Schultz,Brooklynn Gasser et al.
Grace E VanNoy et al.
Purpose: Although RNA analysis holds potential to increase the diagnostic yield of exome sequencing (ES) for rare disease, its practical utility and barriers to its large-scale implementation have not been well studied. T...
Single vs dual genetic disease in children with congenital anomalies and solid tumors [0.03%]
儿童先天性异常和实体瘤中单基因病与双基因病的差异分布规律及其机制研究
Deborah J Watson,Amir Hossein Saeidian,Xiang Wang et al.
Deborah J Watson et al.
Purpose: Genome sequencing (GS) presents a powerful approach to uncover disease-causing genetic variants. We used GS to examine single vs dual molecular causes in some of the most complicated pediatric cases-those with bo...
Genetic counselors' perspectives and experiences with workplace genetic testing: Results of a national survey [0.03%]
全美遗传咨询师从业调查：职业基因检测的行业视角与个人体验
Alexandra Truhlar,Elizabeth Charnysh,Subhamoy Pal et al.
Alexandra Truhlar et al.
Purpose: Workplace genetic testing (wGT) is a wellness benefit offered to employees, providing a new access point for genetic testing. Although genetic counseling is not typically required in wGT, genetic counselors (GCs)...
Cell modeling and rescue of a novel noncoding genetic cause of glycogen storage disease IX [0.03%]
新型非编码遗传性葡萄糖储存疾病IX型细胞建模与治疗研究
Apoorva K Iyengar,Xue Zou,Jian Dai et al.
Apoorva K Iyengar et al.
Purpose: Delayed diagnosis of Mendelian disease prevents early therapeutic intervention that could improve symptoms and prognosis. One major contributing challenge is functional interpretation of noncoding variants that a...
Rare and resilient: Longer-term experiences of families after genetic evaluation in the neonatal intensive care unit [0.03%]
罕见而坚韧：新生儿重症监护病房基因检测后家庭的长期经历
Siwaar Abouhala,Maya C Del Rosario,Ingrid A Holm et al.
Siwaar Abouhala et al.
Purpose: Many rare genetic conditions manifest soon after birth and result in admission to the Neonatal Intensive Care Unit (NICU), where prior research suggests that parents experience high levels of stress and uncertain...
Rapid targeted analysis of the genome: Rapid genomic sequencing in critically ill infants [0.03%]
快速的基因组定位分析：危重婴儿的快速基因组测序
K Taylor Wild,Sara L Reichert,Matthew C Dulik et al.
K Taylor Wild et al.
Purpose: We developed a genome sequencing-based test (Rapid Targeted Analysis of the Genome for Infants [rTAG-I]) to minimize turnaround time while maximizing diagnostic yield and access to rapid sequencing for critically...
Development of a comprehensive cardiovascular disease genetic risk assessment test [0.03%]
心血管疾病遗传风险评估检测的开发
Laura M Amendola,Alison J Coffey,Josh Lowry et al.
Laura M Amendola et al.
Purpose: Despite monogenic and polygenic contributions to cardiovascular disease (CVD), genetic testing is not widely adopted, and current tests are limited by the breadth of surveyed conditions and variant interpretation...
Rhandi Christensen,Chaini Konwar,Beryl C Zhuang et al.
Rhandi Christensen et al.
Purpose: The objective of this study was to identify predictors of epigenetic age and its association with neurodevelopmental outcomes in children born preterm. ...