Each month, the editors of Human Genetics and Genomics Advances interview researchers who have published work in the journal. This month, we check in with Carissa Sherman and Betzaida Maldonado to dis...

This international study identifies the recurrent AP5B1 c.2354T>C p.(Leu785Pro) variant as a relatively frequent cause of late-onset macular dystrophy in individuals of European and Ashkenazi Jewish a...

Researchers used data from the UK Biobank and All of Us Research program to identify genes where rare genetic variants are associated with cancer diagnosis across multiple cancer types. The results su...