Katrine M. Johannesen

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.

Haploinsufficiency underlies the neurodevelopmental consequences of SLC6A1/GAT-1 variants

The paper investigates the functional consequences of SLC6A1 variants, finding haploinsufficiency underlies neurodevelopmental phenotypes and identifying missense residues sensitive to substitution.

Structural mapping of GABRB3 variants reveals genotype-phenotype correlation

The paper analyzes GABRB3 variants in a cohort of 71 individuals to identify genotype-phenotype correlations, finding associations between variant locations and specific clinical features.

Integrative approach to interpret DYRK1A variants, leading to a frequent neurodevelopmental disorder

The paper reclassifies DYRK1A variants using an integrative approach, showing some previously reported pathogenic variants do not cause obvious phenotypes.

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.