Limb-girdle muscular dystrophies constitute a broad range of clinical and genetic entities. We have evaluated 38 autosomal recessive limb-girdle muscular dystrophy (LGMD2) families by linkage analysis ...

Angelman syndrome ( AS) is a neurodevelopmental disorder characterised by severe learning difficulties, ataxia, a seizure disorder with a characteristic EEG, subtle dysmorphic facial features, and a ...

3 Department of Pediatrics, McGill University Health Center Research Institute, Montreal, Canada Correspondence to Dr Nada Jabado, Montreal Children's Hospital Research Institute, 4060 Ste Catherine ...

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 ...

Variations in new splicing regulatory elements are difficult to identify exclusively by sequence inspection and may result in deleterious effects on precursor (pre) mRNA splicing. These mutations can ...

a Departments of Pediatrics, The University of Michigan, Ann Arbor, Michigan 48109-0688, USA, b Department of Human Genetics, The University of Michigan, Ann Arbor, Michigan 48109-0688, USA Dr Gorski, ...

Division of Pediatric Cardiology, Doernbecher Children’s Hospital, Oregon Health & Science University, Oregon, USA M Silberbach, MD, Department of Pediatrics, CDRC-P, Oregon Health and Science ...

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

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 ...

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 ...