Journal of Medical Genetics

Long-read DNA and RNA sequencing for inherited polyposis and colorectal cancer: cryptic intronic variants and multiple mutational mechanisms

Background Molecular genetic diagnoses are critical to prevention and treatment of inherited polyposis and colorectal cancer.
Journal of Medical Genetics

Evaluation of whole-body MRI for cancer early detection in Li-Fraumeni syndrome

Li-Fraumeni syndrome (LFS) is a high-risk hereditary cancer predisposition syndrome affecting 1 in 5000 individuals. Current ...
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Comprehensive genetic landscapes and clinical heterogeneity in nanophthalmos: new insights from a large Chinese cohort

1 Eye Institute and Department of Ophthalmology, Eye & ENT Hospital, Fudan University, Shanghai, China Background Nanophthalmos is a rare ocular condition characterised by a significantly short axial ...
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Six at Sixty. ‘No gain, no pain’: medical genetics taking Nav1.7 from target to pharmacy

Pain perception is a vital protective mechanism.1 However, chronic pain, maladaptive and persistent, constitutes a major disease burden.2 Reliance on opioid analgesics is fraught with risks of ...
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Splicing in action: assessing disease causing sequence changes

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 ...
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Hirschsprung disease, associated syndromes, and genetics: a review

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 ...
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Genetic Severity Score predicts clinical phenotype in NF2

Correspondence to Dr Dorothy Halliday, Oxford Centre for Genomic Medicine, Nuffield Orthopaedic Hospital, Windmill Rd, Oxford University Hospitals NHS Foundation Trust, Oxford, UK; dorothy.halliday{at ...
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Single-molecule optical mapping enables quantitative measurement of D4Z4 repeats in facioscapulohumeral muscular dystrophy (FSHD)

Purpose Facioscapulohumeral muscular dystrophy (FSHD) is a common adult muscular dystrophy. Over 95% of FSHD cases are associated with contraction of the D4Z4 tandem repeat (~3.3 kb per unit) at 4q35 ...
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The clinical significance of small copy number variants in neurodevelopmental disorders

2 Institute of Biochemistry, University of Erlangen-Nuremberg, Erlangen, Germany 3 Institute of Human Genetics, University of Erlangen-Nuremberg, Erlangen, Germany Background Despite abundant evidence ...
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Phenotypic spectrum and genomics of undiagnosed arthrogryposis multiplex congenita

56 CNAG-CRG, Centre for Genomic Regulation (CRG), Barcelona Institute of Science and Technology (BIST); Universitat Pompeu Fabra (UPF), Barcelona, Spain 57 Unité de Neurophysiologie Clinique, Centre ...
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Guidelines for surveillance of individuals with constitutional mismatch repair-deficiency proposed by the European Consortium “Care for CMMR-D” (C4CMMR-D)

Correspondence to Professor Dr HFA Vasen, Department of Gastroenterology & Hepatology, Leiden University Medical Centre, Rijnsburgerweg 10, Leiden 2333 AA, The Netherlands; hfavasen{at}stoet.nl BTs ...
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Canadian Open Genetics Repository (COGR): a unified clinical genomics database as a community resource for standardising and sharing genetic interpretations

Background The Canadian Open Genetics Repository is a collaborative effort for the collection, storage, sharing and robust analysis of variants reported by medical diagnostics laboratories across ...