Searching…
JMG offers multiple-choice questions on new papers every month to support continuing medical education for doctors and other healthcare professionals. View our latest modules.
Genotype-phenotype correlations Analysis of muscle and blood RNA samples from patients with myotonic dystrophy type 1 reveals the presence of new mis-splicing biomarkers of disease severity Melissa Palma-Jiménez, Lisb...
Background GlcNAc2-epimerase (GNE) myopathy is a rare autosomal recessive disorder caused by pathogenic variants in the GNE gene, which is essential for the sialic acid biosynthesis pathway. Objective This multi-centr...
Original research: Accurate detection of D4Z4 repeats, methylation and allele haplotype in facioscapulohumeral muscular dystrophy 1 using nanopore long-read adaptive sampling sequencing: a pilot study (30 July, 2025)
Celebrating JMG's 60th Anniversary September 2024 marks an exciting and important milestone for Journal of Medical Genetics (JMG) as we celebrate 60 years of publishing!
CrossRef PubMed Google Scholar ↵ He M-F , Liu L-H , Luo S , et al . ZFHX3 variants cause childhood partial epilepsy and infantile spasms with favourable outcomes. J Med Genet 2024;61:652–60. doi:10.1136/jmg-2023-109725
OpenUrl CrossRef PubMed Google Scholar ↵ Simonin-Wilmer I , Ossio R , Leddin EM , et al . Population-based analysis of POT1 variants in a cutaneous melanoma case-control cohort. J Med Genet 2023;60:692–6. doi:10.1136/...
Explore the comprehensive archive of the Journal of Medical Genetics, featuring past issues and groundbreaking research in human genetics.
Background Myotonic dystrophy type 1 (DM1) is a multisystem disorder with autosomal dominant inheritance, caused by the abnormal expansion of the CTG triplet in the DMPK gene. Biomarker discovery in DM1 is crucial for...
OpenUrl CrossRef PubMed Web of Science Google Scholar ↵ Butler MG , Dasouki MJ , Zhou X-P , et al . Subset of individuals with autism spectrum disorders and extreme macrocephaly associated with germline PTEN tumour su...
