The European Journal of Human Genetics is turning 30: a selection of major cancer genetics papers published by the Journal [0.03%]
欧洲人类遗传学杂志三十岁了：期刊上发表的一系列重大癌症遗传学论文精选
Patrick R Benusiglio
Patrick R Benusiglio
Alisdair McNeill
Alisdair McNeill
Direct-to-consumer genetic testing: an updated systematic review of healthcare professionals' knowledge and views, and ethical and legal concerns [0.03%]
面向消费者的基因检测：关于医务人员的知识和观点以及伦理和法律问题的系统回顾更新版
Michelle Fernandes Martins,Logan T Murry,Liesl Telford et al.
Michelle Fernandes Martins et al.
Direct-to-consumer genetic testing (DTC-GT) is becoming increasingly widespread. The aim of this research was to systematically review the literature published on healthcare professionals' knowledge and views about DTC-GT, as an update to a...
Analysis of Fibroblast Growth Factor 14 (FGF14) structural variants reveals the genetic basis of the early onset nystagmus locus NYS4 and variable ataxia [0.03%]
FGF14结构变异的分析揭示了早发性眼球震颤位点NYS4和小脑共济失调的遗传基础
Fabiola Ceroni,Daniel Osborne,Samuel Clokie et al.
Fabiola Ceroni et al.
Nystagmus (involuntary, rhythmical eye movements) can arise due to sensory eye defects, in association with neurological disorders or as an isolated condition. We identified a family with early onset nystagmus and additional neurological fe...
Clustering of Juvenile Canavan disease in an Indian community due to population bottleneck and isolation: genomic signatures of a founder event [0.03%]
由于人口瓶颈和隔离导致的印度社区青少年坎万病聚集：创始人事件的基因组标志
Ananthapadmanabha Kotambail,Pavalan Selvam,Karthik Muthusamy et al.
Ananthapadmanabha Kotambail et al.
Mild/juvenile Canavan disease (M/JCD) is less frequently reported in the literature and little is known about its pathogenetic mechanisms. We report a comprehensive investigation into the pathogenetic mechanism of a novel NM_000049.4(ASPA):...
Whole-genome sequencing of multiple related individuals with type 2 diabetes reveals an atypical likely pathogenic mutation in the PAX6 gene [0.03%]
全基因组测序发现多个2型糖尿病相关个体PAX6基因中一个可能致病的非典型变异
Bernhard O Boehm,Wolfgang Kratzer,Vikas Bansal
Bernhard O Boehm
Pathogenic variants in more than 14 genes have been implicated in monogenic diabetes; however, a significant fraction of individuals with young-onset diabetes and a strong family history of diabetes have unknown genetic etiology. To identif...
Exome sequencing as first-tier genetic testing in infantile-onset pharmacoresistant epilepsy: diagnostic yield and treatment impact [0.03%]
婴儿难治性药物癫痫一线外显子组测序的诊断率和治疗影响
Ponghatai Boonsimma,Chupong Ittiwut,Wuttichart Kamolvisit et al.
Ponghatai Boonsimma et al.
Pharmacoresistant epilepsy presenting during infancy poses both diagnostic and therapeutic challenges. We aim to identify diagnostic yield and treatment implications of exome sequencing (ES) as first-tier genetic testing for infantile-onset...
Identification and characterization of two DMD pedigrees with large inversion mutations based on a long-read sequencing pipeline [0.03%]
基于长读测序流程的两个DMD家系的大片段倒位突变的识别与表征
Chang Geng,Ciliu Zhang,Pidong Li et al.
Chang Geng et al.
Pathogenic large inversions are rarely reported on DMD gene due to the lack of effective detection methods. Here we report two DMD pedigrees and proposed a reliable pipeline to define large inversions in DMD patients. In the first pedigree,...
The role of the Genetic Counsellor in the multidisciplinary team: the perception of geneticists in Europe [0.03%]
欧洲遗传学家眼中的遗传咨询师在多学科团队中的作用
Francesca Catapano,Mohamed El Hachmi,Natacha Ketterer-Heng et al.
Francesca Catapano et al.
Genetics has begun to be considered a key medical discipline which can have an impact on everyday clinical practice. Therefore, it is necessary to understand what the most effective way is of caring for people affected by or at risk of gene...
Applying the Clinician-reported Genetic testing Utility InDEx (C-GUIDE) to genome sequencing: further evidence of validity [0.03%]
通过基因组测序应用临床医生报告的基因检测效用指标(C-GUIDE)进一步证实其有效性
Robin Z Hayeems,Stephanie Luca,Anna C E Hurst et al.
Robin Z Hayeems et al.
Genome sequencing (GS) outperforms other rare disease diagnostics, but standardized approaches to assessing its clinical utility are limited. This study assessed the validity of the Clinician-reported Genetic testing Utility InDEx (C-GUIDE)...