Manuela Pendziwiat

This study evaluates the diagnostic value of long-read genome sequencing in DEE patients, finding it particularly effective for resolving complex structural variants not detected by short-read sequencing.

The paper analyzes a large DNM1 cohort to identify mutational hotspots and genotype-phenotype correlations in DNM1-related disorder.

The paper analyzes 11,125 trio exomes to explore the relationship between genetic variants and phenotypic features in neurodevelopmental disorders, finding significant clinical similarities and phenotypic gradients.

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.

The paper identifies FGF12 variants linked to DEE and ASD and shows their functional effects on NaV1.2 and NaV1.6 sodium channels, revealing complex gain- and loss-of-function changes.

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

This study identifies ultra-rare genetic variants associated with different epilepsy types using whole-exome sequencing in 17,634 individuals.

The paper identifies de novo variants in neurodevelopmental disorders with epilepsy and finds associations with specific genes and clinical features.

The paper evaluates clinical features, flow cytometry, and facial image analysis to classify GPIBDs and identify gene-specific patterns, finding that facial recognition software is most effective for gene prediction.