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.bmj2d
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.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.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.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.bmj6d
Online First
A tandem duplication of exon 42 of the DMD gene is a likely benign variant ...
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.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.bmj16d
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.bmj17d
Multiple endocrine neoplasia type 2B (mucosal neuroma syndrome, Wagenmann-Froboese syndrome).
Multiple endocrine neoplasia type 2B (MEN 2B), or the mucosal neuroma syndrome, is an autosomal dominant hamartoneoplastic syndrome. Features include multiple mucosal neuromas, phaeochromocytoma, ...
jmg.bmj20d
Retrospective study on the utility of optical genome mapping as a follow-up method in genetic diagnostics
Background Current standard-of-care (SOC) methods for genetic testing are capable of resolving deletions and sequence variants, but they mostly fail to provide information on the breakpoints of ...
jmg.bmj20d
Genomic sequencing in paediatric oncology: navigating conflicting roles and responsibilities
Background This study explores the ethical and moral challenges faced by paediatric oncologists when they are informed of patient genomic results, particularly during molecular tumour boards (MTBs), ...