Journal of Medical Genetics
is a leading human genetics journal publishing global authoritative research and reviews
Impact Factor: 4
Citescore: 9.6
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Authors
The Journal of Medical Genetics accepts submissions of a wide range of article types, including original research, review and short reports.
The Author Information section provides specific article requirements to help you turn your research into an article suitable for JMG.
Information is also provided on editorial policies and open access.
Journal of Medical Genetics Learning
In collaboration with BMJ Learning, Journal of Medical Genetics offers high-quality continuing medical education for doctors and other healthcare professionals.
All Journal of Medical Genetics Multiple Choice Questions are listed on BMJ Learning. You can also find a list of our modules by title on our learning hub >>
Our latest module is Carriers of autosomal recessive conditions: are they really ‘unaffected?’
Most Read Articles
Position statement:
Genetic and metabolic investigations for neurodevelopmental disorders: position statement of the Canadian College of Medical Geneticists (CCMG)22 May 2023
Phenotypes:
Redefining WILD syndrome: a primary lymphatic dysplasia with congenital multisegmental lymphoedema, cutaneous lymphovascular malformation, CD4 lymphopaenia and warts23 December 2022
Cancer genetics:
Population-based analysis of POT1 variants in a cutaneous melanoma case–control cohort20 December 2022
Latest Articles
Editorial:
Time to treat the climate and nature crisis as one indivisible global health emergency27 November 2023
Review:
Exploring the association between congenital vertebral malformations and neural tube defects27 November 2023
Genotype-phenotype correlations:
The Phenotypic variability of 16p11.2 distal BP2-BP3 deletion in a transgenerational family and in neurodevelopmentally ascertained samples27 November 2023
Genotype-phenotype correlations:
Ureteropelvic junction obstruction with primary lymphoedema associated with CELSR1 variants27 November 2023
Genotype-phenotype correlations:
Genetic features and kidney morphological changes in women with X-linked Alport syndrome27 November 2023
Blog Posts
30 November 2023
30 November 2023
Open Access Articles
Developmental defects:
Short-read whole genome sequencing identifies causative variants in most individuals with previously unexplained aniridia30 November 2023
Cancer genetics:
Co-design of patient information leaflets for germline predisposition to cancer: recommendations for clinical practice from the UK Cancer Genetics Group (UKCGG), Cancer Research UK (CRUK) funded CanGene-CanVar Programme and the Association of Genetic Nurse Counsellors (AGNC)30 November 2023
Ethics and policy:
Ancestry, race and ethnicity: the role and relevance of language in clinical genetics practice29 November 2023
Phenotypes:
Deep phenotyping of the neuroimaging and skeletal features in KBG syndrome: a study of 53 patients and review of the literature16 August 2023
Cancer genetics:
Evaluation of European-based polygenic risk score for breast cancer in Ashkenazi Jewish women in Israel14 July 2023
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Recent Articles
Developmental defects:
Short-read whole genome sequencing identifies causative variants in most individuals with previously unexplained aniridia30 November 2023
Cancer genetics:
Co-design of patient information leaflets for germline predisposition to cancer: recommendations for clinical practice from the UK Cancer Genetics Group (UKCGG), Cancer Research UK (CRUK) funded CanGene-CanVar Programme and the Association of Genetic Nurse Counsellors (AGNC)30 November 2023
Ethics and policy:
Ancestry, race and ethnicity: the role and relevance of language in clinical genetics practice29 November 2023
Phenotypes:
Deep phenotyping of the neuroimaging and skeletal features in KBG syndrome: a study of 53 patients and review of the literature16 August 2023
Cancer genetics:
Evaluation of European-based polygenic risk score for breast cancer in Ashkenazi Jewish women in Israel14 July 2023