Homepage | Journal of Medical Genetics
6 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 developments.Articles cover the molecular basis of human disease including germline cancer genetics, clinical manifestations of genetic disorders, applications of molecular genetics to medical practice and the systematic ...
Current Issue | Journal of Medical Genetics
Original research: Accurate prenatal diagnosis of facioscapulohumeral muscular dystrophy 1 using nanopore sequencing (26 October, 2024)
About - Journal of Medical Genetics
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 developments.
Online First - Journal of Medical Genetics
Dec 11, 2024 · Predicting the likelihood of BRCA1/2 germline pathogenic variants in unselected patients with breast cancer: analysis of more than 10,000 individuals
Current Issue - Journal of Medical Genetics
Original research: Lynch syndrome diagnostic testing pathways in endometrial cancers: a nationwide English registry-based study (21 October, 2024)
Six at Sixty | Journal of Medical Genetics
September 2024 marks an exciting and important milestone for Journal of Medical Genetics (JMG) as we celebrate 60 years of publishing! Over the past 6 decades, we have established ourselves as a trusted source for robust research on areas that cover the molecular basis of human disease including germline cancer genetics, clinical manifestations of genetic disorders, applications of molecular ...
KIF21A-associated peripheral neuropathy defined by impaired …
KIF21A encodes a kinesin motor protein associated with isolated congenital fibrosis of the extraocular muscles (CFEOM), which occurs when the autoinhibitory interaction between its motor and third coiled-coil domains is disrupted. In this study, we describe a female child who is heterozygous for a novel de novo missense variant in KIF21A p.Leu664Pro, located in the second coiled-coil domain ...
Authors - Journal of Medical Genetics
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 developments. Articles cover the molecular basis of human disease including: germline cancer genetics; clinical manifestations of genetic disorders; applications of molecular …
Unveiling non-coding DMD variants: synergising RNA sequencing …
Dec 11, 2024 · Background Pathogenic variants in the DMD gene are associated with dystrophinopathy including Duchenne and Becker muscular dystrophy (DMD/BMD). Targeted DMD gene, gene panels, exomes and genome sequencing have advanced genetic diagnostics, yet some cases remain elusive. Methods We performed total RNA sequencing (RNAseq) on muscle biopsy from 13 male patients with a clinical diagnosis of DMD/BMD.
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. In the UK in 2020, 52% of all cancers were diagnosed at stage I or II. The National Health Service (NHS) long-term plan is to increase this to 75% by 2028, …