Kim E. Nichols

The paper investigates how POT1 mutations affect telomere inheritance and cancer risk by analyzing telomere length in families with POT1 mutations.

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 identifies SMARCAL1 as a novel predisposition gene for osteosarcoma by analyzing germline variants in DNA damage repair genes across childhood cancer cases.

The paper introduces Famdenovo, a model to predict de novo mutations in families with Li-Fraumeni syndrome, identifying 40 new carriers and showing high prediction accuracy.

PeCanPIE is a cloud-based platform for annotating and classifying germline variants in pediatric cancer, using ACMG guidelines to rank and classify variants from VCF files.