Michael T. Zimmermann

This study introduces pseudo-haplotype analysis to characterize multi-variant configurations in BAF chromatin remodeling genes, revealing common and rare variant co-occurrence patterns across populations.

This study develops a helicase-specific variant effect predictor to classify SMARCA4 variants as damaging or tolerated, improving interpretation of genetic variants of uncertain significance.

The paper identifies ARID1B variants that impair protein interactions, stability, and regulation, linking them to neurodevelopmental disorders and cancers.

The paper classifies ABCC6 genetic variants using structural genomics to identify pathogenic mechanisms and reclassify variants of uncertain significance.

This paper identifies and annotates 85 human miniproteins using sequence analysis, computational biophysics, and structure prediction to uncover their structure-function relationships and novel biological roles.

The paper analyzes BAF complex gene co-expression across human tissues to identify tissue-specific regulatory patterns and their functional implications.

This study introduces a method to score protein surface property changes for interpreting genomic variants, showing significant differences in charge distribution for known pathogenic variants.

This study uses computational structural genomics to analyze mitochondrial enzyme complexes in MDS, showing improved variant phenotyping compared to conventional methods.

This study identifies MARK2 variants as a cause of autism spectrum disorder by showing they disrupt the WNT/β-catenin signaling pathway and impair neural development.

This paper classifies EHMT1 variants into structural, dynamic, and combined structural-dynamic categories using computational methods to improve variant interpretation for Kleefstra syndrome.

The paper uses molecular dynamics simulations to analyze 86 KRAS mutations, revealing mutation-specific conformations and functional insights not captured by current genomic tools.

This study investigates how microglia and astrocytes affect neurofilament accumulation in ALS iPSC-derived motor neurons, showing glial-secreted factors influence neurofilament pathology.

This study identifies de novo coding variants in the AGO1 gene as a cause of a novel monogenic neurodevelopmental disorder with intellectual disability and associated behavioral features.

The paper identifies a novel alternatively spliced HP1g isoform, sHP1g, lacking the chromoshadow domain, and shows its expression across tissues and dysregulation in cancers.

The paper develops and evaluates 3D structure-based scores for genomic variants and integrates them with sequence-based scores to better understand how variants affect protein function in the RAS gene family.