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.bmj12d
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.bmj23d
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.bmj8d
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.bmj1d
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.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.bmj5d
Genetic evidence for the role of loci at 19q13 in cleft lip and palate
3 Latin American Collaborative Study of Congenital Malformations (ECLAMC), Department of Genetics, Federal University of Rio de Janeiro, Rio de Janeiro, RJ, Brazil 4 Latin American Collaborative Study ...
jmg.bmj4d
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.bmj6d
Online First
A tandem duplication of exon 42 of the DMD gene is a likely benign variant ...
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.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 ...