Background Tumour testing for microsatellite instability (MSI) or mismatch repair deficiency (dMMR) is used to screen for ...

Background: Microdeletions at 17q21.31 have recently been shown to cause a novel syndrome. Here we identify the reciprocal 17q21.31 duplication syndrome in 4 patients. Method: Patients with the ...

Safety and efficacy of AAV-based mini- and micro-dystrophin gene therapies in Duchenne muscular dystrophy: a systematic review and meta-analysis of clinical trials ...

Correspondence to Dr Tuula Rinne, Department of Human Genetics, Radboud University Medical Center, Nijmegen 6500HB, Netherlands; tuula.rinne{at}radboudumc.nl Background This study evaluates 6 years of ...

Institute of Biomedical and Clinical Science, Peninsula Medical School, Exeter, UK Correspondence to: Professor Andrew T Hattersley Diabetes and Vascular Medicine, Peninsula Medical School, Barrack ...

Objectives To determine if the anatomical severity of oral clefting affects familial recurrence in a large population based sample. To provide reliable recurrence risk estimates for oral cleft for ...

Purpose Genome sequencing (GS) is expected to reduce the diagnostic gap in rare disease genetics. We aimed to evaluate a scalable framework for genome-based analyses ‘beyond the exome’ in regular care ...

10 School of Molecular and Biomedical Science, The University of Adelaide, Adelaide, Australia 11 Robinson Research Institute, The University of Adelaide, Adelaide, Australia Correspondence to Dr ...

Background Genome-wide association studies have identified >30 common SNPs associated with epithelial ovarian cancer (EOC). We evaluated the combined effects of EOC susceptibility SNPs on predicting ...

Correspondence to Dr He Jing-Dong, Department of Clinical Oncology, Huai'an First People's Hospital, Nanjing Medical University, Huai'an, China; 13861596338@126.com Dr Xiao-Jie Lu, Department of ...

Background Preconception genetic screening is a key preventive strategy for identifying at-risk couples (ARCs) of inherited ...