Andreas Brunklaus

Gene Portals: A Framework for Integrating Clinical, Functional, and Structural Evidence into Rare Disease Variant Classification

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.

Age-aware genotype-phenotype architecture across 87 genetic neurodevelopmental disorders

This study creates an age-aware genotype-phenotype atlas for 87 neurodevelopmental disorders using data from the Simons Searchlight cohort, identifying gene-specific risk profiles and age-dependent penetrance patterns.

Optimizing clinical interpretability of functional evidence in epilepsy-related ion channel variants

The paper develops a Bayesian framework to integrate functional evidence into clinical variant interpretation for epilepsy-related ion channel genes, identifying key parameters that influence pathogenicity classification.

Molecular dynamics simulations reveal molecular mechanisms for the gain and loss of function effects of four SCN2A variants

The paper uses molecular dynamics simulations to analyze four SCN2A variants, revealing how they affect channel structure and function, with R937C being the most unstable.

Conserved patterns across ion channels correlate with variant pathogenicity and clinical phenotypes

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

Predicting Functional Effects of Missense Variants in Voltage-Gated Sodium and Calcium Channels

The paper predicts functional effects of missense variants in voltage-gated sodium and calcium channels using machine learning, achieving high accuracy in distinguishing gain and loss of function variants.