Categoría: Annual Review of Genomics and Human Genetics

Arthrogryposis multiplex congenita (AMC) is characterized by congenital joint contractures in two or more body areas resulting from reduced or absent fetal movements. AMC exhibits marked phenotypic and genetic heterogeneity, as it is a symptom rather t…

In this article, I recount and reflect on the US Department of Energy’s contributions to sequence the human genome as part of the Human Genome Project.

Newborn screening for phenylketonuria began in the United States in the early 1960s, and it expanded one disease at a time until the development of tandem mass spectrometry. This technology allowed for screening many conditions simultaneously, but its …

Breast cancer is a major public health burden that disproportionately affects women of African descent. Substantial progress has been made in understanding the genetic and biological drivers of breast cancer worldwide. However, this knowledge is uneven…