© BMJ Publishing Group Ltd. 2024

ceRNA in cancer: possible functions and clinical implications (2015) 

The revised Ghent nosology for the Marfan syndrome (2010) 

Malignant peripheral nerve sheath tumours in neurofibromatosis 1 (2002) 

Complications of the naevoid basal cell carcinoma syndrome: results of a population based study (1993) 

Genetic heterogeneity in osteogenesis imperfecta (1979)  

Karyotype-phenotype Correlations in Gonadal Dysgenesis and Their Bearing on the Pathogenesis of Malformations (1965) 

Influential Articles

Timeline of important milestones achieved over the past 60 years

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 genetics to medical practice and the systematic evaluation of such applications worldwide.

To celebrate this achievement, we are reflecting on key achievements and highlighting some of the most influential research that the journal has published. Read Editor-in-Chief, Huw Dorkin's editorial here.

Join us in commemorating 60 years of academic excellence, and here's to many more years of impactful publishing!

Most cited papers by decade

Most discussed papers over the past 60 years

A step forward, but still inadequate: Australian health professionals’ views on the genetics and life insurance moratorium (Sept 2021)

Human transgenerational responses to early-life experience: potential impact on development, health and biomedical research (July 2014)

The avoiding late diagnosis of ovarian cancer (ALDO) project; a pilot national surveillance programme for women with pathogenic germline variants in BRCA1 and BRCA2 (Nov 2022)

Autosomal dominant sneezing disorder provoked by fullness of stomach (Aug 1989)

Genetic enhancement of cognition in a kindred with cone–rod dystrophy due to RIMS1 mutation (Feb 2007)

2014 - 2023

2004 - 2013

1994 - 2003

1984 - 1993

1974 - 1983

1964 - 1973

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