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3 days ago · Journal of Medical Genetics is a leading international peer-reviewed journal covering original research in human genetics, including reviews of and opinion on the latest …
JMG in 2025 | Journal of Medical Genetics
We begin 2025 by looking back at the contribution of Charis Eng, a distinguished cancer geneticist and former North American editor of the Journal of Medical Genetics ( JMG ). In this …
Redefining WILD syndrome: a primary lymphatic dysplasia with …
Background Primary lymphoedema (PL) syndromes are increasingly recognised as presentations of complex genetic disease, with at least 20 identified causative genes. Recognition of clinical …
Novel HYLS1 variants associated with Joubert syndrome suggest …
Joubert syndrome (JS) is an inherited neurodevelopmental ciliopathy with wide clinical and genetic heterogeneity, whose paradigmatic sign is a peculiar cerebellar and brainstem …
Unveiling non-coding DMD variants: synergising RNA sequencing …
Background Pathogenic variants in the DMD gene are associated with dystrophinopathy including Duchenne and Becker muscular dystrophy (DMD/BMD). Targeted DMD gene, gene panels, …
Tumour spectrum in AKT1-related Proteus syndrome: a systematic …
AKT1 -related Proteus syndrome is an ultra-rare mosaic overgrowth disorder with tumour predisposition. We conducted a systematic review to determine the range and characteristics …
Inbreeding and risk of late onset complex disease
Inbreeding has been shown in almost all species to be associated with impairment of function because of homozygosity of recessive alleles. This occurs across a wide range of traits and …
Isolated congenital anosmia locus maps to 18p11.23-q12.2
Isolated congenital anosmia (MIM 107200) is a very rare condition characterised by a complete smelling defect that is present from birth in otherwise normal subjects. To our knowledge, nine …
Genetics of prostate cancer: a review of latest evidence
Prostate cancer (PrCa) is a largely heritable and polygenic disease. It is the most common cancer in people with prostates (PwPs) in Europe and the USA, including in PwPs of African descent. …
A detailed clinical analysis of 13 patients with AUTS2 syndrome …
Background AUTS2 syndrome is an ‘intellectual disability (ID) syndrome’ caused by genomic rearrangements, deletions, intragenic duplications or mutations disrupting AUTS2 . So far, 50 …