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. ...
Expert opinion on facilitating intrafamily communication in rare diseases-Lessons from Fabry disease [0.03%]
罕见病促进家庭内部交流的专家意见——法布雷病患者的启示
Dominique P Germain,Fatma Al-Jasmi,Gheona Altarescu et al.
Dominique P Germain et al.
Clinical and genetic spectrum of Fanconi anemia in Australia and New Zealand [0.03%]
澳大利亚和新西兰Fanconi贫血的临床和基因谱系
Hannah Fluhler,Elissah Granger,Michael Sharp et al.
Hannah Fluhler et al.
Purpose: Fanconi anemia (FA) is a rare genetic condition that predisposes to progressive bone marrow failure, a specific spectrum of malignancies, including head and neck squamous cell carcinoma, and an array of other cli...
An evaluation of genetic predisposition to congenital anomalies and pediatric cancer supports KAT6B as a novel neuroblastoma susceptibility gene [0.03%]
遗传易感性评估支持KAT6B是儿童肿瘤和先天畸形的新型神经母细胞瘤易感基因
Hyunjung Gu,Yao Yu,Saumya Dushyant Sisoudiya et al.
Hyunjung Gu et al.
Purpose: Although congenital anomalies are among the strongest risk factors for developing pediatric cancer, the genetic underpinnings remain unclear. Therefore, we evaluated germline susceptibility in children with conge...
Arimoclomol and levacetylleucine for the treatment of neurologic manifestations of Niemann-Pick disease type C: A therapeutics bulletin of the American College of Medical Genetics and Genomics (ACMG) [0.03%]
Niemann-Pick病C型神经表现的治疗：Arimoclomol和Levacecylleucine：美国医学遗传学院（ACMG）治疗通报
Jorge L Rodriguez-Gil,Wendy E Smith,Irene J Chang et al.
Jorge L Rodriguez-Gil et al.