Combining rare and common genetic variants improves population risk stratification for breast cancer [0.03%]
罕见遗传变异和常见遗传变异的结合可改善乳腺癌的人群风险分类
Alexandre Bolze,Daniel Kiser,Kelly M Schiabor Barrett et al.
Alexandre Bolze et al.
Purpose: This study aimed to evaluate the performance of different genetic screening approaches to identify women at high risk of breast cancer in the general population. ...
Exploring current challenges in the technologist workforce of clinical genomics laboratories [0.03%]
探究临床基因组学实验室技术人才面临的挑战
Yassmine Akkari,Sheila Dobin,Robert G Best et al.
Yassmine Akkari et al.
Purpose: Workforce shortages are observed in many sectors of the economy, including clinical genomics laboratories. Although medical technologists are essential for the primary functions of laboratory operations and many ...
Publicly funded exome sequencing for outpatients with neurodevelopmental disorders demonstrates a high rate of unexpected findings impacting medical management [0.03%]
针对神经发育障碍门诊病人的公共资金外显子组测序显示出影响医疗管理的意外发现率很高
Yara Nakhleh Francis,Tova Hershkovitz,Nina Ekhilevitch et al.
Yara Nakhleh Francis et al.
Purpose: Exome sequencing (ES) is a powerful tool that facilitates the diagnosis of patients with rare Mendelian syndromes. In 2018 the Israeli Ministry of Health initiated a national pilot program that funds ES for outpa...
Olipudase alfa approved for pediatric and adult patients with acid sphingomyelinase deficiency (ASMD): A therapeutics bulletin of the American College of Medical Genetics and Genomics (ACMG) [0.03%]
酸性鞘磷脂酶缺乏症(ASMD)新药阿利珠单抗的获批：美国医学遗传学与基因组学学院(ACMG)药物动态监测站公告
Monica Penon-Portmann,Sheri A Poskanzer,Jaya Ganesh et al.
Monica Penon-Portmann et al.
Elivaldogene autotemcel approved for treatment of cerebral adrenoleukodystrophy (CALD) in males: A therapeutics bulletin of the American College of Medical Genetics and Genomics (ACMG) [0.03%]
美国医学遗传与基因组学院（ACMG）治疗通报：Elivaldogene Autotemcelline获批用于治疗脑型肾上腺脑白质营养不良（CALD）男性患者
Anna I Scott,Kanwaldeep K Mallhi,Jaya Ganesh et al.
Anna I Scott et al.
On the launch of Genetics in Medicine Open: Disseminating knowledge and wisdom in genomic medicine [0.03%]
《遗传学与医学（开放获取期刊）》发刊词：传播基因组医学的知识和智慧
Robert G Best,Marc S Williams
Robert G Best
Bo Yuan
Bo Yuan
Social and physical predictors of mental health impact in adult women who have an FMR1 premutation [0.03%]
社交和物理预测因子对FMR1突变携带者成年女性精神健康影响的影响
Claudine M Kraan,Minh Bui,Alison Archibald et al.
Claudine M Kraan et al.
Purpose: Clear understanding of mental health phenotypes and associated socioeconomic, physical health and well-being impacts in adult women with an FMR1 premutation (PM) is needed for counseling and primary healthcare. ...
Development and validation of the Vanderbilt PRS-KS, an instrument to quantify polygenic risk score knowledge [0.03%]
范德比尔特PRS-KS的开发与验证，该仪器用于量化多基因风险评分知识
Doug Stubbs,Gillian W Hooker,Yajing Li et al.
Doug Stubbs et al.
Purpose: As polygenic risk scores (PRSs) enter clinical practice, health care providers' and the publics' comprehension of PRS results are of great importance; yet, they are poorly understood. We present the Vanderbilt po...
Establishing an objective clinical spectrum, genotype-phenotype correlations, and CRMP1 as a modifier in the Ellis-van Creveld syndrome: The first systematic review of EVC- and EVC2-associated conditions [0.03%]
确立客观的临床谱系，基因型表型相关性以及EVC和EVC2相关疾病的CRMP1修饰因子：第一项系统性回顾
Jorge Diogo Da Silva,Ana Rita Soares,Ana Maria Fortuna et al.
Jorge Diogo Da Silva et al.
Purpose: Ellis-van Creveld (EVC) syndrome is an autosomal recessive skeletal ciliopathy that was first identified in the Old Order Amish. Since its discovery, two causal genes have been identified, EVC and EVC2, showing t...