Michael P. Kwint

The paper maps NMD-coupled alternative splicing events in iPSC-derived brain cells and identifies therapeutic targets for neurodevelopmental disorders.

The paper generates a proteogenomic atlas of the human neural retina using long-read RNA-sequencing and mass spectrometry, identifying novel transcript isoforms and peptides.

The paper uses long-read sequencing and cDNA capture to sequence large transcripts associated with Usher syndrome in the human neural retina, identifying novel isoforms and splicing events.

DeNovoCNN is a deep learning tool for de novo variant calling in sequencing data, achieving high recall and precision compared to existing methods.

The paper evaluates long indel detection in exome sequencing data from intellectual disability patients, identifying three pathogenic indels and highlighting the importance of accurate variant calling.