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National survey on the prevalence of single-gene aetiologies for genetic developmental and epileptic encephalopathies in Italy
Background We aimed to estimate real-world evidence of the prevalence rate of genetic developmental and epileptic encephalopathies (DEEs) in the Italian population over a 11-year period. Methods ...
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Portraying the full picture of Neurofibromatosis–Noonan syndrome: a systematic review of literature
Background and aims Neurofibromatosis–Noonan syndrome (NFNS) is an extremely rare genetic entity combining the clinical phenotype of two conditions: neurofibromatosis type 1 syndrome (NF1) and Noonan ...
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The NHS England Jewish BRCA Testing Programme: overview after first year of implementation (2023–2024)
Background The NHS Jewish BRCA Testing Programme is offering germline BRCA1 and BRCA2 genetic testing to people with ≥1 Jewish grandparent. Who have an increased likelihood of having an Ashkenazi ...
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Reassessment and reclassification of variants of unknown significance in patients with cardiomyopathy in a specialist department
Background The utility of diagnostic genetic testing in cardiomyopathy has grown significantly, due to the discovery of novel genes and greater awareness among healthcare professionals. However, a ...
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Foecal incontinence disorders in Wolfram syndrome: a new manifestation
If you wish to reuse any or all of this article please use the link below which will take you to the Copyright Clearance Center’s RightsLink service. You will be ...
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The molecular genetics of Marfan syndrome and related microfibrillopathies
a Laboratory of Paediatric Molecular Biology, Department of General Paediatrics, Charité University Hospital, Humboldt University, D-10098 Berlin, Germany, b Department of Pediatrics and Munroe Center ...
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Genetics of idiopathic pulmonary fibrosis: from mechanistic pathways to personalised medicine
Idiopathic pulmonary fibrosis (IPF) is a chronic, progressive and ultimately fatal disorder for which there is no cure. While the disease is by definition idiopathic, accumulating evidence, including ...
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International guidelines for the diagnosis and management of hereditary haemorrhagic telangiectasia
1 Division of Respirology, Department of Medicine, St Michael's Hospital, University of Toronto, Toronto, Ontario, Canada 2 Li Ka Shing Knowledge Institute, St Michael's Hospital, University of ...
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Kinetic mutations in argininosuccinate synthetase deficiency: characterisation and in vitro correction by substrate supplementation
Correspondence to Professor Johannes Häberle, Division of Metabolism, University Children's Hospital Zurich, Steinwiesstrasse 75, Zurich 8032, Switzerland; Johannes.haeberle{at}kispi.uzh.ch Background ...
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Online First
A tandem duplication of exon 42 of the DMD gene is a likely benign variant ...
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Fragile X syndrome: from molecular genetics to therapy
Correspondence to R F Kooy, Department of Medical Genetics, University of Antwerp, Universiteitsplein 1, 2610 Antwerp, Belgium; Frank.Kooy{at}ua.ac.be Fragile X syndrome, the main cause of inherited ...