A clinical algorithm to identify people with the glucose-6-phosphate dehydrogenase p.Val68Met variant at risk for diabetes undertreatment [0.03%]
一种临床算法，用于识别葡萄糖-6-磷酸脱氢酶p.Val68Met变异糖尿病患者治疗不足风险的人群
Yash Pershad,Joseph H Breeyear,Robert W Corty et al.
Yash Pershad et al.
Purpose: To develop an algorithm using routine clinical laboratory measurements to identify people at risk for systematic underestimation of glycated hemoglobin because of p.Val68Met glucose-6-phosphate dehydrogenase (G6P...
Three-dimensional craniofacial imaging in children with achondroplasia treated with vosoritide [0.03%]
用于治疗软骨发育不全儿童的vosoritide的三维颅面影像研究
Hanne Hoskens,J David Aponte,Cassidy Da Silva et al.
Hanne Hoskens et al.
Purpose: Achondroplasia is the most common form of disproportionate short-stature skeletal dysplasia. Constitutively activated FGFR3 signaling disrupts endochondral ossification, affecting long bone growth, as well as the...
Delayed diagnosis and clinical course of alpha-mannosidosis: A retrospective study of 25 patients with varying severity [0.03%]
α-岩藻糖苷贮积病的延迟诊断及临床过程：25例不同严重程度患者的回顾性研究
James H Nurse,Julia B Hennermann,Marco A Curiati et al.
James H Nurse et al.
Purpose: Alpha-mannosidosis is an ultrarare lysosomal storage disorder characterized by considerable diagnostic delays due to symptom heterogeneity and disease rarity. This study evaluated disease manifestation and clinic...
Attitudes toward returning pathogenic KCNQ1 variant and uptake of cascade screening in the Amish [0.03%]
阿米什人群对致病KCNQ1变异回溯及级联筛查的态度和接受度
Elizabeth A Streeten,Yue Guan,Kathleen A Ryan et al.
Elizabeth A Streeten et al.
Purpose: To assess the experience of Amish regarding return of results (RoR) of long QT syndrome founder variant KCNQ1 p.(Thr224Met), information sharing, and uptake of beta-blockers, and variant testing in at-risk family...
Enhanced detection and characterization of germline structural variants in cancer predisposition genes via genome sequencing [0.03%]
通过基因组测序改进癌症易感基因种系结构变异的检测与表征
Parisa K Kargaran,Qiliang Ding,Lauren A Choate et al.
Parisa K Kargaran et al.
Purpose: Germline pathogenic variants in cancer predisposition genes are found in approximately 10% of all cancer cases. Although multigene panel testing is the current first-tier approach for detecting variants in these ...
Real-life implementation of prenatal cell-free DNA screening with in vitro fetal enrichment virtually eliminates the need for redraws and improves performance: A cohort study [0.03%]
基于体外胎儿DNA富集的产前细胞游离DNA筛查在实际应用中几乎消除了重新采血的需求并提高了检测性能：一项队列研究
Sylvie Giroux,Seyedeh Saideh Daryabari,André Caron et al.
Sylvie Giroux et al.
Purpose: Insufficient fetal fraction is a significant cause of prenatal cell-free DNA (cfDNA) screening failure, affecting 2% to 5% of samples, particularly among women with high body mass index (BMI). We evaluated the cl...
Evaluation of DNA-poli: Study protocol of a randomized controlled trial to assess a digital platform for family cascade genetic testing and predictive genetic counseling [0.03%]
DNA-poli评估：一项随机对照试验的研究方案，评估数字平台在家庭级联基因检测和预测性遗传咨询中的应用效果
Marlies N van Lingen,Janine V Meulenkamp,Marten A Siemelink et al.
Marlies N van Lingen et al.
Purpose: The current uptake of predictive genetic counseling among at-risk relatives (ARRs) for cardiogenetic diseases is suboptimal, with 40% to 50% of ARRs undergoing testing within 1 to 3 years after disclosure. Digita...
Efficient variant phasing utilizing a replication cycle reaction system [0.03%]
利用复制周期反应体系进行高效的变异相位解析
Akihiko Mitsutake,Hiroyuki Ishiura,Takashi Matsukawa et al.
Akihiko Mitsutake et al.
Purpose: When 2 heterozygous variants are detected in autosomal recessive disease genes, determining whether they are in cis or in trans is essential. Subcloning polymerase chain reaction products or complementary DNA is ...
Pharmacogenomics in pediatric oncology: Australian adolescent or young adult and caregiver perspectives [0.03%]
儿科肿瘤学的药物基因组学：澳大利亚青少年、年轻成人和护理人员的观点
Claire Moore,Emma F Magavern,Marliese Alexander et al.
Claire Moore et al.
Purpose: Preemptive pharmacogenomic (PGx) testing in pediatric oncology patients could reduce toxicity and improve efficacy of medications yet remains underutilized. Consumer identified implementation barriers have not be...
How does personal utility depend on clinical setting? Evidence from 3 cohorts [0.03%]
来自3个队列的证据：个人效用如何取决于临床环境？
Elise Poole,Stephanie Luca,Daniel Assamad et al.
Elise Poole et al.
Purpose: Evidence of personal utility of genetic testing is critical to clinical care, funding, and policy decisions. We aimed to understand how patient-oriented values and preferences for genetic testing vary across clin...