Sharon A. Savage

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

This study identifies polygenic modifiers of expressivity in telomere biology disorders by showing how common and rare genetic variants interact to influence clinical variability.

This paper uses long-read sequencing to measure telomere length distributions in human cells, finding that aging is associated with loss of long telomeres and accumulation of short ones, and develops a classifier to distinguish healthy aging from telomere disorders.

The paper identifies a Neandertal introgressed haplotype in the OAS1 gene associated with increased risk of severe COVID-19 and shows it impairs SARS-CoV-2 clearance through genetic regulation of OAS1 expression.

This study shows that RTEL1 helicase regulates TERRA RNA abundance and localization, with implications for telomere stability and disease.

The paper identifies an alternative splicing mechanism that regulates hTERT expression during development, linking it to telomerase activity and disease.

The paper specifies TP53-specific ACMG/AMP variant classification guidelines, reducing variants of uncertain significance from 28% to 12%.

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.

The paper estimates cancer-specific penetrance in Li-Fraumeni syndrome using a statistical model and validates it across multiple cohorts, showing age-dependent risk patterns for different cancer types.