Ajith Kumar

The paper quantifies phenotypic specificity of rare FH variants in HLRCC and renal cancer using likelihood ratios from clinical and population data.

The paper develops a framework for classifying variants of reduced penetrance in cancer susceptibility genes to improve variant interpretation consistency.

The paper presents a method to assess recurrence risk of de novo mutations in families using deep-sequencing and haplotyping, finding that 59% of DNMs had reduced risk below 0.1%.

The paper identifies epigenetic aging abnormalities in growth disorders caused by mutations in epigenetic regulatory molecules.