Laura L Koebbe,Timo Hess,Stephan L Haas et al.
Laura L Koebbe et al.
Gastric cancer (GC) is a leading cause of cancer-related deaths worldwide. While most cases result from the cumulative risk of common genetic variants, a smaller proportion shows a monogenic etiology. We used germline exome sequencing data ...
A homozygous variant in the beta-1,3-N-acetylglucosaminyltransferase 4 gene causes progressive brain atrophy and muscular dystrophy [0.03%]
β-1,3-N-乙酰氨基葡萄糖苷转移酶4基因纯合变异导致进行性脑萎缩和肌营养不良症
John Vissing,Ana Töpf,Volker Straub et al.
John Vissing et al.
Protein glycosylation defects can present with early-onset brain malformations and muscular dystrophy or milder, late-onset muscular dystrophy. Here, we report a new glycosylation defect with an atypical phenotype of late-onset, progressive...
Hereditary diffuse gastric cancer in progress: Comparative lessons from Lynch syndrome [0.03%]
进行中的遗传性弥漫型胃癌：来自林奇综合征的启示
Joana Pereira,Luísa Carvalho,Soraia Melo et al.
Joana Pereira et al.
Hereditary diffuse gastric cancer (HDGC) and Lynch syndromes are dominant hereditary diseases caused by pathogenic germline variants in specified genes, and characterised by a broad spectrum of malignancies. Whereas HDGC is associated with ...
David J Amor,Elsdon Storey,Stephen P Robertson
David J Amor
Young people's experience of predictive genetic testing for inherited cardiac conditions: a qualitative study [0.03%]
青年遗传性心脏病基因检测体验定性研究
Sarah Mulhern,Ansley M Morrish,Vanessa Connell et al.
Sarah Mulhern et al.
Inherited cardiac conditions (ICCs), like inherited cardiomyopathies (ICMs) and long QT syndrome (LQTS), are serious genetic conditions that carry a risk of sudden death. Predictive genetic testing (PT) is routinely available, however, the ...
Cascade counselling and testing. Recommendations of the European Society of Human Genetics [0.03%]
分阶段咨询与检测。欧洲人类遗传学学会的建议
Guido de Wert,Carla G van El,Angus Clarke et al.
Guido de Wert et al.
Cascade testing (CT) is an effective instrument for identifying an index patient's relatives at high risk of a heritable condition enabling informed decision-making on preventive interventions and reproductive choice. However, CT remains un...
"The ability to get ahead": Australian parent perspectives on genomics in newborn screening and considerations for potential models of care [0.03%]
“迈向未来的能力”——澳大利亚父母对新生儿基因组筛查中基因组学的看法以及潜在诊疗模式的思考
Sarah-Grace Paguinto,Christian Meagher,Joanne Scarfe et al.
Sarah-Grace Paguinto et al.
Implementation of genomics in newborn screening is rapidly becoming a reality through accelerated clinical research and investment in genomic sequencing programs. The perspectives of parents who have experienced genetic screening and techno...
Genomic pathway managers: a novel role in the genomic medicine care pathway in France-overview and perspectives [0.03%]
基因组途径经理：法国基因组医学护理途径中的新角色-概览与展望
Léa Gaudillat,Léa Patay,Juliette Santenard et al.
Léa Gaudillat et al.
The 2025 French Genomic Medicine Initiative (PFMG2025) aims to make clinical genome sequencing (GS) widely accessible across France through the deployment of dedicated care pathways for rare diseases (RDs), cancer genetic predisposition (CG...
Reconsidering a silent variant: SGCA's role in atypical cardiomyopathy [0.03%]
重新考虑一种无症状变异体：SGCA在非典型心肌病中的作用
Smadar Horowitz-Cederboim,Ronit Hoffman-Lipschuetz,Ronen Durst et al.
Smadar Horowitz-Cederboim et al.
Limb-girdle muscular dystrophy type R3 (LGMDR3) is caused by pathogenic SGCA variants and typically presents as progressive muscle weakness with limited cardiac manifestations. We investigated five consanguineous families with substantial l...
Fathers' and Mothers' support needs and support experiences after rapid genome sequencing [0.03%]
快速基因组测序后父母的支持需求和经历
Helen Dolling,Sophie Rowitch,Malachy Bromham et al.
Helen Dolling et al.
As early rapid genomic sequencing (rGS) is adopted in paediatric medicine, there is an urgency to understand and address family support needs. This mixed methods study (Peregrin*) examined the experiences of 96 parents, 1-5 years after rece...