Michael Nothnagel

The paper introduces Gene Portals, a framework that integrates clinical, functional, and structural data for rare disease variant classification, demonstrating its utility across five gene-specific portals.

The paper introduces para-PS1/PM5 criteria by incorporating pathogenic paralogous variants to improve variant classification under ACMG guidelines, increasing classifiable amino acids 3.6-fold.

The paper identifies biological properties of ion channel residues associated with variant pathogenicity and links them to clinical phenotypes and functional assays.

CNV-ClinViewer provides a web tool for clinical interpretation of large copy-number variants by integrating patient and population data with biomedical annotations.

The paper analyzes ultra-rare variants in epilepsy patients to identify gene-set enrichment patterns and differential impacts in neuronal gene categories.

The paper identifies novel genetic loci associated with nicotine dependence and shows genetic correlations with other smoking traits and comorbidities using genome-wide association studies.

The paper introduces an exhaustive genomic scan method to identify significant regions in rare-variant association studies, finding novel associations for age-related macular degeneration and schizophrenia.

The paper reassesses the pathogenicity of gene variants associated with focal human epilepsies using evolutionary constraint, ACMG guidelines, and bioinformatic tools.