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...
The completion of indicated paternal prenatal genetic and carrier testing at a public hospital in Los Angeles, California [0.03%]
加利福尼亚州洛杉矶市一家公立医院中建议的产前父亲基因和携带者筛查检测的完成情况
Michelle T Nguyen,Genevieve Mazza,Brian T Nguyen
Michelle T Nguyen
Purpose: Pregnant individuals are routinely advised to undergo genetic carrier screening, followed by carrier screening in the reproductive partner if the patient's screen is positive. The objective of our study was to id...
Vladimir F Niculescu
Vladimir F Niculescu
Oncogenesis and the origin of cancer are still not fully understood despite the efforts of histologists, pathologists, and molecular geneticists to determine how cancer develops. Previous embryogenic and gene- and genome-based hypotheses ha...
Mosaic variants detectable in blood extend the clinicogenetic spectrum of GLI3-related hypothalamic hamartoma [0.03%]
GLI3相关下丘脑错构瘤的临床遗传谱系在血液中可检测到镶嵌变异
Timothy E Green,Mark F Bennett,Ilka Immisch et al.
Timothy E Green et al.
Purpose: Hypothalamic hamartoma (HH) can be syndromic (eg, Pallister-Hall syndrome [PHS], HH, and mesoaxial polydactyly) or nonsyndromic. Most PHS cases have germline variants in GLI3, but a minority remain unresolved. So...