Topic Collections

September 2024 marks an exciting and important milestone for Journal of Medical Genetics 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 genetics to medical practice and the systematic evaluation of such applications worldwide. We will be publishing a series of pieces – Six at sixty – in which authors of some of our most widely read articles will reflect on the work they reported and subsequent developments in that area. Read the collection here.