Patrick R. Blackburn

The paper examines the prevalence and clinical significance of adult-onset cancer predisposition variants in pediatric cancer patients, finding most variants are secondary rather than directly related to the tumor.

The paper analyzes somatic NMDe variants in oncogenes and dual-function genes across cancer cohorts, identifying two distinct patterns with different functional consequences.

The paper evaluates a Bayesian point-based system for variant classification in hereditary cancer genes, finding it reduces variants of uncertain significance compared to ACMG/AMP 2015 guidelines.

The paper reports a cohort of 35 individuals with CUL3 variants causing a syndromic neurodevelopmental disorder, showing loss-of-function variants disrupt protein homeostasis by impairing proteasomal degradation of CUL3 substrates.

The paper investigates RNF213 variation's role in neurovascular diseases across Caucasian and Japanese populations, finding linkage disequilibrium between SLC26A11 and RNF213 variants associated with ischemic stroke and aneurysms.

This study identifies DDX3X mutations as causing neurodevelopmental disorders by disrupting RNA metabolism and neurogenesis during fetal cortical development.