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 ...
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Dyslexia is among the most common neurodevelopmental disorders, with a prevalence of 5–12%. At the phenotypic level, various cognitive components that enable reading and spelling and that are ...
Division of Endocrinology, Children’s Hospital Boston, Boston, Massachusetts, USA Dr B-L Wu, Department of Laboratory Medicine, Children’s Hospital Boston, 300 Longwood Ave, Boston, Massachusetts ...
Background Adolescent idiopathic scoliosis (AIS), the predominant genetic-influenced scoliosis, results in spinal deformities without vertebral malformations. However, the molecular aetiology of AIS ...
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 ...
Hirschsprung disease (HSCR, aganglionic megacolon) is the main genetic cause of functional intestinal obstruction with an incidence of 1/5000 live births. This developmental disorder is a ...
Background Schaaf-Yang syndrome (SYS) is caused by truncating mutations in MAGEL2, mapping to the Prader-Willi region (15q11-q13), with an observed phenotype partially overlapping that of Prader-Willi ...
Background Distinguishing genetic variants that cause disease from variants that are rare but benign is one of the principal challenges in contemporary clinical genetics, particularly as variants are ...
Background Knowing the genetic status of patients affected by paragangliomas and pheochromocytomas (PPGL) is important for the guidance of their management and their relatives. Our objective was to ...
5 Centre for Cell and Chromosome Biology, Division of Biosciences, School of Health Sciences and Social Care, Brunel University, Uxbridge, Middlesex, UK 6 School of Pharmacy and Biomolecular Sciences, ...
Institute of Human Genetics, Newcastle University, Newcastle upon Tyne, NE1 3BZ, UK Professor P F Chinnery, Mitochondrial Research Group, The Medical School, Newcastle University, Newcastle upon Tyne, ...
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