Annika Martin

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

The paper generates a collection of 65 isogenic human stem cell lines with PD-associated mutations to study Parkinson's disease, revealing that most genetic variation comes from cell culture rather than genome editing.

This study uses deep scanning mutagenesis to analyze POT1 mutations in human stem cells, revealing that some cancer-associated variants drive telomere elongation and oncogenesis independently of telomere replication.

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.