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Streamlining review of research involving humans: Canadian models
Correspondence to Ma'n H Zawati, Faculty of Medicine, Department of Human Genetics, Centre of Genomics and Policy, McGill University, 740 Dr Penfield Avenue, Room 5103, Montreal, Quebec, Canada QC H3A ...
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De novo mtDNA point mutations are common and have a low recurrence risk
4 Wellcome Trust Centre for Mitochondrial Research, Institute of Neuroscience, The Medical School, Newcastle University, Newcastle upon Tyne, UK 5 Research School for Cardiovascular Diseases in ...
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Multiple synchronous sites of origin of vestibular schwannomas in neurofibromatosis Type 2
2 Centre for Imaging Sciences, Institute of Population Health, University of Manchester, Manchester, UK Correspondence to Dr Stavros M Stivaros, Academic Department of Paediatric Radiology, Children's ...
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Apoptosis and cancer: mutations within caspase genes
The inactivation of programmed cell death has profound effects not only on the development but also on the overall integrity of multicellular organisms. Beside developmental abnormalities, it may lead ...
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Genetic aetiology of early infant deaths in a neonatal intensive care unit
Correspondence to Professor Wenhao Zhou, Department of Neonatology, Children's Hospital of Fudan University, Shanghai 201102, China; zhouwenhao{at}fudan.edu.cn Background Congenital anomalies are the ...
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Reduced penetrance of gene variants causing amyotrophic lateral sclerosis
Background Amyotrophic lateral sclerosis overlaps aetiologically and genetically with frontotemporal dementia and occurs in both familial and apparently sporadic forms. The most commonly implicated ...
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Long-read sequencing for detection and subtyping of Prader-Willi and Angelman syndromes
Prader-Willi syndrome (PWS) and Angelman syndrome (AS) are imprinting disorders caused by genetic or epigenetic aberrations of 15q11.2-q13. Their clinical testing is often multitiered; diagnostic ...
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Genotype-phenotype correlation in clubfoot (talipes equinovarus)
Correspondence to Przemko Tylzanowski, Skeletal Biology and Engineering Research Centre, KU Leuven, Leuven, Flanders, Belgium; przemko{at}kuleuven.be Human genetic diseases can be classified as ...
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Pathology update to the Manchester Scoring System based on testing in over 4000 families
Correspondence to Professor D Gareth Evans, Manchester Centre for Genomic Medicine, Manchester Academic Health Science Centre, St Mary’s Hospital, University of Manchester, Manchester M13 9WL, UK; ...
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Biallelic VPS35L pathogenic variants cause 3C/Ritscher-Schinzel-like syndrome through dysfunction of retriever complex
7 International Research Fellow of Japan Society for the Promotion of Science (Postdoctoral Fellowships for Research in Japan (Standard)), Tokyo, Japan Correspondence to Dr Shinji Saitoh, Department ...
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Genetic and functional insights into CDA-I prevalence and pathogenesis
Correspondence to Dr Christian Babbs, MRC Molecular Haematology Unit, Weatherall Institute of Molecular Medicine, Oxford, Oxfordshire, UK; christian.babbs{at}imm.ox.ac.uk Methods Genetic analysis of a ...