Isabella Stuewe

The paper identifies rare variants in CSMD2 associated with neurodevelopmental disorders, showing both recessive and dominant inheritance patterns and functional impairments.

This study uses multi-omics profiling to show that house dust mite exposure accelerates lung tumor growth through immune-mediated mechanisms by altering the tumor microenvironment.

This paper introduces UDSeq, a duplex sequencing protocol for accurate somatic mutation detection with low DNA input and high coverage, achieving a low error rate and enabling cross-species profiling.

DupCaller improves mutation detection in duplex sequencing by using sample-specific error profiles and a strand-aware model, increasing sensitivity across various samples and conditions.

This study shows that carcinogen-induced DNA adducts enhance APOBEC3B-mediated mutagenesis, leading to increased mutation rates in cancer genomes.