Genome sequencing enhances the diagnostic yield and expands the genetic landscape of male breast cancer [0.03%]
基因组测序提高诊断率并扩大了男性乳腺癌的遗传图谱范围
Wen Wen,Sen Zhao,Yiwen Jiang et al.
Wen Wen et al.
Purpose: To understand the broader genetic landscape of male breast cancer (MBC), focusing on the utility of genome sequencing (GS) beyond BRCA1/2 (HGNC: 1100, 1101) variants. ...
College of American Pathologists (CAP)/American College of Medical Genetics and Genomics (ACMG) proficiency testing for urinary glycosaminoglycan analysis: A summary of performance [0.03%]
美国病理学家协会（CAP）/医学遗传与基因组学会（ACMG）尿糖胺聚糖分析能力验证：表现概述
Kristina Cusmano-Ozog,Dietrich Matern,Thomas Long et al.
Kristina Cusmano-Ozog et al.
Purpose: Glycosaminoglycans (GAGs) accumulate in patients with mucopolysaccharidoses (MPS), multiple sulfatase deficiency, and mucolipidoses; measurement of total GAGs and the specific excretion pattern by fractionation c...
Biallelic SLC13A1 loss-of-function variants result in impaired sulfate transport and skeletal phenotypes, including short stature, scoliosis, and skeletal dysplasia [0.03%]
SLC13A1双等位基因丢失功能变异导致硫酸盐转运障碍及骨骼异常包括身材矮小、脊柱侧弯和骨骼发育不良等症状
Christina G Tise,Katie Ashton,Lachlan de Hayr et al.
Christina G Tise et al.
Purpose: Sulfate is vital for many physiological processes, including the structural and functional maintenance of macromolecules and formation of sulfur-containing compounds essential for cartilage and bone development. ...
Refining the interpretation of variants of uncertain significance in hereditary cancer screening through integrated RNA sequencing [0.03%]
通过整合RNA测序 refine 肿瘤遗传筛查中意义未明变异的解释
Youbao Sha,J Bryce Ortiz,Sara L Bristow et al.
Youbao Sha et al.
Purpose: Although up to 25% of germline variants are predicted to affect splicing, most are classified as variants of uncertain significance (VUS) because of the limited understanding of their functional consequences. Her...
Pilot implementation study of a default genetic referral process for patients with early-onset colorectal cancer [0.03%]
早发性结直肠癌患者的默认遗传转诊流程试点实施研究
Kelsey S Lau-Min,Shavon Rochester,Megan Grabill et al.
Kelsey S Lau-Min et al.
Purpose: Early-onset colorectal cancer (CRC) diagnosed under age 50 is increasing at alarming rates, with >75% of early-onset cases occurring in patients between 40 and 49 years old. Germline genetic risk evaluations are ...
Casgevy (exagamglogene autotemcel) and Lyfgenia (lovotibeglogene autotemcel) for individuals 12 years and older with sickle cell disease (SCD) and recurrent vaso-occlusive crises (VOC): A therapeutics bulletin of the American College of Medical Genetics and Genomics (ACMG) [0.03%]
用于12岁及以上镰状细胞病患者的Casgevy（扩大诱导自体造血干细胞）和Lyfgenia（洛沃替丁诱导自体造血干细胞）以治疗反复发作的血管阻塞危机(VOC):美国医学遗传学院(ACMG)的治疗通报
Harry Lesmana,Sun Young Kim,Andrés Morales Corado et al.
Harry Lesmana et al.
Applications of genome sequencing as a single platform for clinical constitutional genetic testing [0.03%]
基因组测序作为临床先天性遗传检测单一平台的应用研究
Yao Yang,Daniela Del Gaudio,Avni Santani et al.
Yao Yang et al.
The number of human disease genes has dramatically increased over the past decade, largely fueled by ongoing advances in sequencing technologies. In parallel, the number of available clinical genetic tests has also increased, including the ...
Frequency and reasons that parents decline genetic testing for critically ill neonates [0.03%]
重症新生儿家长拒绝进行基因检测的频率及原因分析
Katharine Press Callahan,Rebecca Mueller,Karen Crew et al.
Katharine Press Callahan et al.
Purpose: Current literature reports strong support among parents for genetic testing for ill neonates; yet, some parents decline this testing for unknown reasons. We aimed to document the proportion of parents who decline...
Tessa Adžemović,Kisakye Diana Kabbale,Eric Katagirya et al.
Tessa Adžemović et al.
Bibliometric analysis of genetic counseling publications in Asia: Insights and implications [0.03%]
亚洲遗传咨询出版物的 bibliometric 分析：见解与影响
Peter James B Abad,Ma-Am Joy R Tumulak,Sook-Yee Yoon et al.
Peter James B Abad et al.
Purpose: Investigation of genetic counseling-related published papers offers a historical assessment of the cumulative scientific knowledge produced by members of the profession and can be the basis for future practice, t...