As of 1 January 2025, the Journal of Medical Genetics (JMG) has become the official journal of the British Society for Genetic Medicine (BSGM), an exciting new partnership will strengthen the exchange ...

Departments of Pediatrics and Neurology, Oregon Health & Science University, Portland, Oregon, USA A Gregory, Molecular and Medical Genetics, Oregon Health & Science University, 3181 SW Sam Jackson ...

Background Autosomal dominant (AD) inheritance often arises through haploinsufficiency, dominant-negative or gain of function (GoF) effects, while autosomal recessive (AR) inheritance generally ...

Background While AUTS2 is recognised as a pivotal neurodevelopmental gene, its role in skeletal morphogenesis has remained unexplored. We investigated the contribution of AUTS2 to radioulnar ...

Correspondence to Dr Chantal Babb de Villiers, PHG Foundation, University of Cambridge, Cambridge CB1 8RN, UK; chantal.babbdevilliers{at}phgfoundation.org The use of genomic information to better ...

Correspondence to Dr Christian P Schaaf, Department of Molecular and Human Genetics, Jan and Dan Duncan Neurological Research Institute at Texas Children’s Hospital, Baylor College of Medicine, 1250 ...

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

1 Department of Human Genetics, Radboud University Nijmegen Medical Centre, Nijmegen, the Netherlands 2 Department of Otorhinolaryngology, Radboud University Nijmegen Medical Centre, Nijmegen, the ...

1 Department of Neurology, Guy’s and St Thomas’ Hospitals, London, UK 2 Department of Medical Genetics, St Mary’s Hospital, Manchester, UK 3 Department of Neurosurgery, Kings College Hospital, London, ...

Background: Double outlet right ventricle (DORV), a clinically significant congenital heart defect, occurs in 1–3% of individuals with congenital heart defects. In contrast to other major congenital ...

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 ...

Friedreich ataxia, an autosomal recessive neurodegenerative disease, is the most common of the inherited ataxias. The recent discovery of the gene that is mutated in this condition,FRDA, has led to ...