Clinical and mutational signatures of CRB1-associated retinopathies: a multicentre study ...

Background Up to 7% of patients with Duchenne muscular dystrophy (DMD) or Becker muscular dystrophy (BMD) remain genetically undiagnosed after routine genetic testing. These patients are thought to ...

The majority of deletions of the short arm of chromosome 5 are associated with cri du chat syndrome (CdCS) and patients show phenotypic and cytogenetic variability. To perform a genotype-phenotype ...

Department of Pathology, State University of New York-Downstate Medical Center, Brooklyn, NY, USA ...

Background Polygenic risk score (PRS), calculated based on genome-wide association studies (GWASs), can improve breast cancer (BC) risk assessment. To date, most BC GWASs have been performed in ...

Correspondence to Dr Nina Ajmone Marsan, Cardiology, Leiden University Medical Center, Leiden, Zuid-Holland, Netherlands; N.Ajmone{at}lumc.nl Methods Patients with MVP were referred for genetic ...

1 Department of Clinical Genetics, Addenbrooke’s Hospital, Cambridge, UK 2 Department of Medicine, University of Cambridge, Addenbrooke’s Hospital Correspondence to: Dr S M Park Department of Clinical ...

Camurati-Engelmann disease (CED) is a rare autosomal dominant type of bone dysplasia. This review is based on the unpublished and detailed clinical, radiological, and molecular findings in 14 CED ...

Background Approximately 10% of gastric cancers (GCs) are associated with strong familial clustering and can be attributed to genetic predisposition. Homologous recombination deficiency (HRD) leads to ...

4 The Cyprus Institute of Neurology and Genetics, Nicosia, Cyprus Correspondence to Dr Peristera Paschou, Department of Biological Sciences, Purdue University, West Lafayette, IN 47907, USA; ...

1 National Human Genome Research Institute, National Institutes of Health, Bldg 49, Room 4B75, 49 Convent Drive, Bethesda, MD 20892-4472, USA 2 Department of Medical Genetics, Children’s National ...

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 ...