Six decades have passed since the publication of the first issue of the Journal of Medical Genetics in September 1964. This would seem to be an appropriate time to look back over the Journal’s contribution in publishing new advances in the field.

Papers published in JMG have been highly cited over the years, with many having received hundreds of citations while a few have been cited thousands of times. The latter includes studies on genetic heterogeneity in osteogenesis imperfecta,1 malignant peripheral nerve tumours in neurofibromatosis 1,2 and a report of the revised Ghent nosology for Marfan syndrome.3 As is to be expected of a journal read by clinicians, agreed diagnostic criteria and management guidelines can prove useful and are widely cited.4 5 Careful clinical studies of previously defined disorders have helped to extend and refine phenotypic descriptions which may inform improvements in patient care.6 7

JMG’s focus on clinically relevant science is also reflected in our 20 most highly referenced articles. Gene discovery papers, reporting the association of pathogenic variants in specific genes with particular diseases have also been important contributions – for example SCN9A with primary erythermalgia,8 and BMPR2 with primary pulmonary hypertension.9 Finally, reviews of progress in fast moving areas in cancer genetics10 11 or complex diseases12 have proven popular.

Our most cited papers have come from four continents, reflecting the international nature of JMG’s readership and authorship. Over the coming year, we shall publish a series of commentary 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.

Medical genetics has changed beyond recognition since 1964, and so has medical publishing. Peter Harper, a distinguished former Editor in Chief of JMG from 1985 to 1995, wrote that he aimed for the journal to have ‘a more ‘rounded’ character, so that each issue would be enjoyable to read as a whole, not just for a particular article that it contained’.13

In the time of online electronic-only publishing (the production of printed issues of JMG ceased at the end of 2022), preprint servers, open access and social media, Harper’s comments evoke a different era, but I hope that JMG in 2024 remains true to the aims and aspirations of its founders sixty years ago.

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