Frontiers in Genetics | Genetics of Common and Rare Diseases

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Journal notices

p53 bound to DNA
p53 prevents cancer formation and acts as a guardian of the genome. Mutations in the p53 gene contribute to about half of the cases of human cancer. 3d rendering

Research Topic of the Month

Featuring recent ebook published in Rare Diseases Research and Diagnosis in Low - and Middle-Income Countries.

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Call for Submissions

Seeking contributions for Research Topic in Genomic Methods and Applications for Malaria Surveillance.

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Thank you to everyone who visited us at the American Society of Human Genetics meeting! It was a pleasure connecting with you all.

New Research Topic Published

Seeking contributions to our new published collection in "Nutrigenetics and Nutrigenomics in Livestock". Submit your research now!

Genetics of Common and Rare Diseases

Submit your research

Author guidelines

Editor guidelines

Peer review

Publishing fees

Journal notices

Trending Article

Research Topic of the Month

Call for Submissions

Conference Stand at the American Society of Human Genetics

New Research Topic Published

Editors

erica e. davis

jordi pérez-tur

andrea accogli

fabio acquaviva

Articles

Biallelic variants in the UTRN gene cause a novel form of multiple congenital arthrogryposis

Prenatal diagnosis of Prader–Willi syndrome via maternal UPD15 with placental mosaicism: incidental discovery of fetal DMD carrier status

Novel variant in PNPLA6 gene causes Oliver-McFarlane syndrome in a Chinese family: 13 years follow-up

Mechanistic Insights into NFIX Frameshift Mutations in Malan Syndrome: Proteasomal Degradation-Mediated Haploinsufficiency

Research Topics

Emerging Frontiers in the Genetics and Clinical Management of Pediatric Epilepsy

Multi-dimensional Research on Pediatric Diseases through Multi-omics Bioinformatics Analysis: Emphasis on Functional Validation

Reviews In Genetics of Common and Rare Diseases

Advances in Genetic and Genomic Research for Understanding and Treating Ophthalmic Diseases