Mohammad K. Eldomery

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 describes the role of the Centers for Mendelian Genomics in advancing gene discovery through data sharing, collaboration, and resource development over the past decade.

The paper identifies additional DDX3X variants in individuals with intellectual disability and expands the known phenotypic spectrum of DDX3X disorders.