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
A multicenter cross-sectional study in infants with congenital heart defects demonstrates high diagnostic yield of genetic testing but variable evaluation practices [0.03%]
一项针对先天性心脏病婴儿的多中心横断面研究表明遗传学检测诊断效益高但评估方法不一
Matthew D Durbin,Lindsey R Helvaty,Ming Li et al.
Matthew D Durbin et al.
Purpose: For patients with congenital heart disease (CHD), the most common birth defect, genetic evaluation is not universally accepted, and current practices are anecdotal. Here, we analyzed genetic evaluation practices ...
GenIDA, a participatory patient registry for genetic forms of intellectual disability provides detailed caregiver-reported information on 237 individuals with Koolen-de Vries syndrome [0.03%]
一项关于遗传性智力障碍的参与式患者登记系统（GenIDA）对237例库伦-德威斯综合症患者的护理者提供的详细信息进行了记录
Florent Colin,Pauline Burger,Timothée Mazzucotelli et al.
Florent Colin et al.
Purpose: GenIDA is an international patient registry for individuals diagnosed with intellectual disability, autism spectrum disorder, and/or epilepsy, which is based on an online questionnaire that is completed by parent...
Disparity in the detection of chromosome 15 centromere in patients of African ancestry with a plasma cell neoplasm [0.03%]
基于祖先背景的15号染色体着丝粒检测偏差及在浆细胞瘤患者中的临床意义
Alaa Koleilat,Hongwei Tang,Neeraj Sharma et al.
Alaa Koleilat et al.
Purpose: Fluorescence in situ hybridization (FISH) is the current gold standard assay that provides information related to risk stratification and therapeutic selection for individuals with plasma cell neoplasms. The diff...
Systematic gene-disease relationship (GDR) curation unveils 61 gene-disease associations and highlights the impact on genetic testing [0.03%]
系统性基因疾病关系(GDR)的整理揭示了61种基因与疾病的关联，并突显其对基因检测的影响
Emir Zonic,Mariana Ferreira,Luba M Pardo et al.
Emir Zonic et al.
Purpose: With this study, we aimed to explore the gene-disease relationship (GDR) evidence for 109 gene-disease pairs and the significance of a large Biodatabank for this classification. ...
Comorbidity, misdiagnoses, and the diagnostic odyssey in patients with hypermobile Ehlers-Danlos syndrome [0.03%]
高关节活动型埃勒斯-丹洛斯综合征患者的共病、误诊及诊断历程
Colin M E Halverson,Sha Cao,Susan M Perkins et al.
Colin M E Halverson et al.
Purpose: The extent of comorbidity and misdiagnosis had been unclear for patients with hypermobile Ehlers-Danlos Syndrome (hEDS), a hereditary connective tissue disorder. The objectives of the study were to (1) describe t...
A pooled electronic consultation program to improve access to genetics specialists [0.03%]
一项整合的电子咨询项目改善了遗传学专家就诊的途径
Emma K Folkerts,Renée C Pelletier,Daniel C Chung et al.
Emma K Folkerts et al.
Purpose: Given limited ambulatory access to genetics specialists, innovative service delivery solutions are needed. Electronic consultation (e-consult) programs are growing to connect clinicians to specialists. We explore...
Educational needs in diagnosing rare diseases: A multinational, multispecialty clinician survey [0.03%]
罕见病诊断中的教育需求：一项跨国、多学科的临床医生调查
S Christy Rohani-Montez,Jennifer Bomberger,Cong Zhang et al.
S Christy Rohani-Montez et al.
Purpose: Recognizing rare diseases (RDs) and initiating appropriate investigation and referral is critical for timely diagnosis. Unfortunately, patients with RDs experience significant diagnostic delays, potentially leadi...