Perspectives from the 2024 International Consortium for Spinal Genetics, Development and Disease (ICSGDD) [0.03%]
2024国际脊柱遗传、发育与疾病联盟(ICSGDD)大会展望
Nan Wu,Nancy Hadley-Miller,Ryan Gray et al.
Nan Wu et al.
Functional analysis of FH variants of uncertain significance using Caenorhabditis elegans model [0.03%]
使用Caenorhabditis elegans模型分析功能不确定意义的FH变异体的功能效应
Suzanne Ferris,Ivette M Menendez Perdomo,Maja Tarailo-Graovac
Suzanne Ferris
Purpose: Variants of uncertain significance (VUS) in the essential metabolic gene fumarase (FH) have hampered diagnosis for patients with FH-associated diseases. Yet, early intervention is crucial for disease management, ...
Impact of genomic sequencing information on physicians' treatment recommendations for children with congenital heart disease [0.03%]
基因组测序信息对先天性心脏病儿童治疗建议的影响
Danton S Char,Natalie T Deuitch,Matthew K Berent et al.
Danton S Char et al.
Purpose: Genomic sequencing (GS) is increasingly part of diagnostic evaluations of children with congenital heart disease (CHD). Past research suggests that clinicians might envision the most immediate benefits of GS to b...
Childhood outcomes of fetal genomic copy-number variants: The prenatal microarray cohort study [0.03%]
胎儿基因组拷贝数变异的儿童期结局：产前基因芯片队列研究
Jacqui McCoy,Cecilia Pynaker,Sharon Lewis et al.
Jacqui McCoy et al.
Purpose: The long-term developmental outcomes of children with a prenatal diagnosis of a copy-number variant of uncertain significance (VUS) remain unclear. This study compared the developmental, social-emotional, and hea...
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...