Costin Leu

This study conducts a genome-wide association study of copy number variations in Parkinson's disease, identifying a significant PRKN deletion but limited replication in an independent dataset.

This study evaluates the underutilization of syndrome-specific ICD-10 codes for monogenic epilepsies in clinical practice, finding that less than two-thirds of patients with molecular diagnoses were assigned these codes.

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 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.

This study analyzes 586 DEPDC5 variant carriers to estimate penetrance, phenotypic features, and treatment outcomes in DEPDC5-related epilepsy.

This study identifies somatic and germline genetic variants in 474 epileptogenic brain lesions, revealing associations with specific epilepsy subtypes and informing clinical genetic screening.

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

The paper identifies microglial activation as a factor contributing to cortical thinning in epilepsy by integrating neuroimaging and gene expression data.

This study identifies strong genetic correlations between genetic generalized epilepsy and background EEG oscillations, particularly in the beta frequency band, suggesting shared biological mechanisms.

This paper performs a systematic review and meta-analysis of 79 studies to compare diagnostic yields of next-generation sequencing in epilepsy, autism spectrum disorder, and intellectual disability, finding higher yields with exome sequencing.

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