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Breast Cancer Association Consortium
This is an open access article distributed in accordance with the Creative Commons Attribution 4.0 Unported (CC BY 4.0) license, which permits others to copy, redistribute, remix, transform and build ...
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RNU4-2 monoallelic variants as a leading cause of syndromic neurodevelopmental disorder, including in patients with parental consanguinity
We analysed rare variants in the non-coding RNU4-2 gene as a potential cause of neurodevelopmental disorder (NDD) and intellectual disability (ID) in a large cohort of individuals enriched for ...
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Opportunistic genetic screening increases the diagnostic yield and is medically valuable for care of patients and their relatives with hereditary cancer
Background Multigene panel testing by next-generation sequencing (MGP-NGS) enables the detection of germline pathogenic or likely pathogenic variants (PVs/LPVs) in genes beyond those associated with a ...
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Syndromes and constitutional chromosomal abnormalities associated with Wilms tumour
Wilms tumour has been reported in association with over 50 different clinical conditions and several abnormal constitutional karyotypes. Conclusive evidence of an increased risk of Wilms tumour exists ...
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Clinical and psychological implications of secondary and incidental findings in cancer susceptibility genes after exome sequencing in patients with rare disorders
Background/Objectives Exome sequencing may identify pathogenic variants unrelated with the purpose of the analysis. We investigated the frequency of secondary and incidental findings (SF/IF) in cancer ...
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Dysfunction of VIPR2 leads to myopia in humans and mice
2 The State Key Laboratory of Optometry, Ophthalmology and Vision Science, Wenzhou, China Background Myopia is the leading cause of refractive errors. As its pathogenesis is poorly understood, we ...
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Uncovering the burden of hidden ciliopathies in the 100 000 Genomes Project: a reverse phenotyping approach
Background The 100 000 Genomes Project (100K) recruited National Health Service patients with eligible rare diseases and cancer between 2016 and 2018. PanelApp virtual gene panels were applied to ...
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Practice evaluation of biobank ethics and governance: current needs and future perspectives
Correspondence to Holger Langhof, QUEST-Center for Transforming Biomedical Research, Charité – University Medicine, Berlin Institute of Health (BIH), Berlin 10178, Germany; ...
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Clinicogenetic characterisation of SLC29A3-related syndromes: a case series, tracing ancestral variants and molecular dynamics simulation
Background SLC29A3-related syndromes (SLC29A3-RS) are characterised by severe and multiorgan involvement that has a severe impact on the quality of life of the affected persons and therefore merit ...
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Dilated cardiomyopathy caused by truncating titin variants: long-term outcomes, arrhythmias, response to treatment and sex differences
Correspondence to Dr Christoffer Rasmus Vissing, The Capital Region’s Unit for Inherited Cardiac Diseases, Department of Cardiology, Rigshospitalet, 2100 Copenhagen, Denmark, Denmark; christoffervi{at ...
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Treatment switch in Fabry disease- a matter of dose?
Correspondence to Professor Eva Brand, Internal Medicine D, Department of Nephrology, Hypertension and Rheumatology and Interdisciplinary Fabry Center Münster (IFAZ), University Hospital Münster, ...
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The focal facial dermal dysplasias: phenotypic spectrum and molecular genetic heterogeneity
Correspondence to Dr Robert J Desnick, Department of Genetics and Genomic Sciences, Mount Sinai School of Medicine, Fifth Avenue and 100th Street, Box 1498, New York, NY 10029, USA; ...