Reporting practices for secondary findings among ERN GENTURIS member institutions in 15 European countries [0.03%]
ERN GENTURIS欧盟15个成员国机构二次研究结果报告实践
Kathrin Taxer,Katharina Wimmer,Karin Wadt et al.
Kathrin Taxer et al.
Secondary findings (SF) identified in massive parallel sequencing raise important clinical and healthcare related questions. To get an overview on current practices of European healthcare providers (HCP), we conducted a cross-sectional surv...
Non-coding genome in nail-patella syndrome: Genetic diagnosis as a guide for personalized follow-up [0.03%]
甲髌综合征中的非编码基因组：遗传诊断指导个性化随访
Perrine Brunelle,Anne-Sophie Jourdain,Fabienne Escande et al.
Perrine Brunelle et al.
Limb malformations are paradigmatic of altered gene regulation in human disease. Nail-Patella Syndrome (NPS) is a rare condition characterized mainly by skeletal defects, glomerulonephritis and glaucoma, with variable expressivity. NPS is c...
Challenges in identifying paediatric cancer predisposition syndromes: international SCOPE survey and SIOPE expert consensus recommendations [0.03%]
儿童癌症易感综合征的识别挑战：国际SCOPE调查和SIOP Europe专家共识意见
Jakica Ćavar Pavić,Noelle Cullinan,Marjolijn Jongmans et al.
Jakica Ćavar Pavić et al.
Cancer Predisposition Syndromes (CPS) are heritable genetic conditions associated with an increased risk of developing various cancers throughout life. While early identification and tumour surveillance can improve outcomes, CPS are often u...
Patient and family perspectives on cascade screening for thoracic aortic disease: a mixed-methods evaluation [0.03%]
胸主动脉疾病级联筛查的患者和家庭视角：一种混合方法评估
Riccardo Giuseppe Abbasciano,Joanne Miksza,Julian Barwell et al.
Riccardo Giuseppe Abbasciano et al.
Cascade screening enables effective secondary prevention and early treatment for Thoracic Aortic Disease (TAD) and increases survival. Despite guideline recommendations, the uptake of screening remains low. This study investigated individua...
Universal tumor screening and mainstream genetic testing for Lynch syndrome in colorectal cancer: a scoping review of barriers and facilitators [0.03%]
结直肠癌的普遍肿瘤筛查和林奇综合征主流基因检测：障碍与促进因素综述
Linda Battistuzzi,Eva Blondeaux,Alberto Puccini et al.
Linda Battistuzzi et al.
Patients with colorectal cancer (CRC) and Lynch syndrome (LS) have elevated cancer risks and require personalized treatment and targeted surveillance. At-risk relatives can also benefit from preventive measures. However, LS remains largely ...
A prioritization framework for BRCA1/2 variants of uncertain significance identified by comprehensive genomic profiling [0.03%]
BRCA1/2基因组全面分析鉴定的变异意义未知（VUS）优先级分类框架
Hikaru Nakahara,Hiroaki Niitsu,Asuka Toshida et al.
Hikaru Nakahara et al.
Comprehensive genomic profiling (CGP) has significantly advanced cancer genomics by enabling broad detection of clinically relevant genomic alterations across diverse cancers. In the context of BRCA1/2, CGP has expanded analysis beyond conv...
A multi-dimensional framework for establishing and managing a genomic newborn screening program [0.03%]
建立和管理基因组新生儿筛查计划的多维度框架
Elena Schnabel-Besson,Nicola Dikow,Karla Alex et al.
Elena Schnabel-Besson et al.
Newborn screening (NBS) is an effective measure of secondary prevention. The application of genomic sequencing in population-based screening would enable further expansions of the NBS disease panel and a genomic NBS (gNBS). The selection of...
Black parents' views and understanding of prenatal genetic testing: a cross-sectional survey of attitudes, knowledge and trust in UK healthcare [0.03%]
英国黑人父母对产前基因检测的观点和理解：一项关于态度、知识及对国民医疗卫生服务信任的横断面调查研究
Michelle Peter,Clotilde Abe,Agnes Agyepong et al.
Michelle Peter et al.
Black women in the UK experience disproportionately poor maternal outcomes yet remain underrepresented in research on prenatal screening and diagnostic genetic testing (prenatal testing). We therefore know little about how Black parents fee...
Variant-specific functional effects of CTNNA1 in a humanized Drosophila model [0.03%]
CTNNA1的变异特异性功能效应的人源化果蝇模型研究
Silvana Lobo,Ana Maria Pedro,Carla Oliveira et al.
Silvana Lobo et al.
Germline variants in CTNNA1, encoding αE-catenin, have been implicated in hereditary diffuse gastric cancer (HDGC) and macular dystrophy patterned-2 (MDPT2). However, the functional mechanisms associated specifically with each molecular va...
Promoting genetic and genomic practices among allied healthcare professionals and nurses: a systematic review [0.03%]
促进医疗保健专业人员和护士开展遗传和基因组实践的系统性综述
Tharushini Anandam,Sanne Peters,Mariana Lauretta et al.
Tharushini Anandam et al.
Genetic practices are increasingly recognised as essential components of modern healthcare. Allied health professionals and nurses are ideally placed to initiate discussions about genetic investigations with patients and families. However, ...