Of the more than 3,000 variants that have been identified in the NF1 gene, only a handful of specific variants can be correlated to certain NF1 symptoms. In this post, I’ll discuss the major known ...

National Institutes of Health researchers have published an assessment of 13 studies that took a genotype-first approach to patient care. This approach contrasts with the typical phenotype-first ...

Cancers are genetic diseases driven by recurrent sets of somatic mutations. Different mutations associate statistically with distinct disease risks and can therefore be useful prognostic markers. But, ...

In this interview conducted at Pittcon 2023 in Philadelphia, Pennsylvania, we spoke to this year’s recipient of the Pittsburgh Analytical Chemistry Award, Neil Kelleher. My name is Neil Kelleher, and ...

Early seizure onset in DEPDC5-related epilepsy is linked to more severe disease, including drug resistance, intellectual disability, and brain lesions.