jmg.bmj5d
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 ...
jmg.bmj15h
Detection of copy number variants associated with late-onset conditions in ~16 200 pregnancies: parameters for disclosure and pregnancy outcome
Background Copy number variants (CNVs) associated with late-onset medical conditions are rare but important secondary findings in chromosomal microarray analysis (CMA) performed during pregnancy. Here ...
jmg.bmj11d
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 ...
jmg.bmj22d
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 ...
jmg.bmj7d
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 ...
jmg.bmj15d
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 ...
jmg.bmj1d
Novel association of hypertrophic cardiomyopathy, sensorineural deafness, and a mutation in unconventional myosin VI (MYO6)
1 Cardiovascular Branch, National Heart, Lung and Blood Institute, National Institutes of Health, Bethesda, Maryland, USA 2 Section on Human Genetics, Laboratory of Molecular Genetics, National ...
jmg.bmj3d
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 ...
jmg.bmj2d
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 ...
jmg.bmj6d
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 ...
jmg.bmj3d
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 ...
jmg.bmj7d
Neuroferritinopathy in a French family with late onset dominant dystonia
1 Department of Neurology, The University of Newcastle upon Tyne, UK 2 Institute of Human Genetics, The University of Newcastle upon Tyne, UK 3 Department of Radiology, Newcastle upon Tyne Hospitals ...