Sarah Weckhuysen

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.

This study presents a one-step protocol to differentiate hiPSCs into functional astrocytes, enabling co-culture with neurons to support network development.

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.

This study investigates the developmental impact of KCNQ2 loss-of-function variants in patient iPSC-derived neurons, showing reduced M-currents and disrupted oscillatory activity linked to developmental delay and seizures.

This study shows that KCNQ2 loss-of-function causes early hyperexcitability and network remodeling in human neurons, with biphasic changes in function, gene expression, and structure.

This study identifies two KCNQ2 variants causing developmental encephalopathies by constitutively opening the Kv7.2 pore activation gate, leading to gain-of-function effects.

The paper investigates how SCN1A variants in a poison exon cause aberrant splicing, reduced Nav1.1 protein, and epilepsy through RBP interactions.

This study develops and tests novel all-in-one plasmids for prime editing in hiPSC, achieving up to 50% edit efficiency with reduced off-target effects.

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 updates gene annotations for 191 epilepsy genes, reclassifying variants and identifying new de novo SCN1A variants in Dravet syndrome patients.

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

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.