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...
The diagnosis communication process in spinal muscular atrophy: A cross-cutting view of the new challenges facing the therapeutic era [0.03%]
脊髓性肌萎缩症的诊断沟通过程：治疗时代面临的新的挑战综述视角
Eulàlia Rovira-Moreno,Anna Abulí,Patricia Muñoz-Cabello et al.
Eulàlia Rovira-Moreno et al.
Spinal muscular atrophy (SMA) is a prevalent severe genetic condition that follows an autosomal recessive inheritance pattern. Over the last decade, advances in innovative therapies have improved the course of the disease for many patients....
Clinically actionable incidental and secondary parental genomic findings after proband exome sequencing: Yield and dilemmas [0.03%]
外显子组测序中父母偶然和继发的基因组结果的临床意义及其带来的问题
Lina Basel-Salmon,Noa Ruhrman-Shahar,Naama Orenstein et al.
Lina Basel-Salmon et al.
Purpose: Exome sequencing (ES) could detect pathogenic variants that are unrelated to the test indication, including findings that may have an impact for patients considering conception/reproduction (reproduction-related ...
Taking the pulse: Preimplantation genetic testing for inherited cardiac conditions [0.03%]
把握先机：植入前遗传学检测在心脏病中的应用
Caitlin M Finn,Frans Serpa,Usman A Tahir
Caitlin M Finn