Yvonne G. Weber

Graph theory for the analysis of micro-electrode array recordings of human brain slices - framework and benchmarking

This paper benchmarks three graph construction methods for MEA recordings of human brain slices, showing method choice significantly affects network topology with effect sizes comparable to biological signals.

Transcription factor binding and individual genetic risk for valproate teratogenicity

The paper investigates how genetic variants affecting transcription factor binding contribute to valproate-induced birth defects and identifies EP300 as a key regulator involved in this process.

Modeling AP2M1 Developmental and Epileptic Encephalopathy in Drosophila

This study models AP2M1-DEE in Drosophila, finding heat-sensitive paralysis, altered neuron morphology, and seizure resistance, suggesting developmental defects over synaptic dysfunction.

Phenotypic analysis of 11,125 trio exomes in neurodevelopmental disorders

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.

Comprehensive Analysis of Human Dendritic Spine Morphology and Density: Exploring Diversity of Human Dendritic Spines

This study analyzes human dendritic spine morphology and density using a unique dataset and deep learning, revealing sex and tissue-specific differences and changes over time in culture.

Temporal Dynamics of Neocortical Development in Organotypic Mouse Cultures: A Comprehensive Analysis

This study tracks neocortical development in organotypic mouse brain slice cultures over five weeks, revealing stable network properties by two weeks and increased variability later, with implications for disease research.

Long-term human organotypic brain slice cultures: a detailed protocol to provide a comprehensive framework for single-neuron and neuronal network investigations

This paper provides a detailed protocol for long-term human organotypic brain slice cultures, enabling extended electrophysiological studies and viral transduction.

Modulating effects of FGF12 variants on NaV1.2 and NaV1.6 associated with Developmental and Epileptic Encephalopathy and Autism Spectrum Disorder

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.

Ultra-rare constrained missense variants in the epilepsies: Shared and specific enrichment patterns in neuronal gene-sets

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

Ultra-rare genetic variation in the epilepsies: a whole-exome sequencing study of 17,606 individuals

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

Targeted gene sequencing in 6994 individuals with neurodevelopmental disorder with epilepsy

The paper analyzes genetic variants in 6,994 individuals with neurodevelopmental disorder with epilepsy to assess diagnostic yield and identify ultra-rare variants in associated genes.

De novo Variants In Neurodevelopmental Disorders With Epilepsy

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

Characterization of Glycosylphosphatidylinositol Biosynthesis Defects by Clinical Features, Flow Cytometry, and Automated Image Analysis

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.

Gene family information facilitates variant interpretation and identification of disease-associated genes

The paper develops a paralog conservation score to identify disease-associated genes and shows that disease variants are enriched at conserved sites across gene families.

Heterogeneous Contribution of Microdeletions in the Development of Common Generalized and Focal epilepsies

This study examines the role of microdeletions in different epilepsy subtypes, finding enriched contributions in Genetic Generalized Epilepsy but not in Rolandic or Adult Focal Epilepsy.