Lisa‐Marie Niestroj

Genome-wide association study of copy number variations in Parkinson's disease

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.

The genomic landscape across 474 surgically accessible epileptogenic human brain lesions

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

A cross-disorder dosage sensitivity map of the human genome

This study identifies 114 genome-wide significant rare CNV-disease associations across 30 neurological disorders, revealing 38 novel triplosensitive genes and developing a model to predict dosage sensitivity.

Genome-wide Analysis of Copy Number Variation in Latin American Parkinson's Disease Patients

The paper analyzes copy number variants in Latin American Parkinson's disease patients and finds enrichment of variants overlapping known Parkinson's genes, particularly PARK2, associated with early-onset disease.

Identification of pathogenic variant enriched regions across genes and gene families

The paper identifies regions in protein sequences enriched for pathogenic variants using gene family alignments and demonstrates their enrichment in neurodevelopmental disorder de novo variants and ClinVar pathogenic classifications.

Evaluation of copy number burden in specific epilepsy types from a genome-wide study of 18,564 subjects

The paper evaluates copy number burden in specific epilepsy types using a genome-wide study of 18,564 subjects, identifying novel CNV loci and showing deletion burden outside known hotspots in lesional focal epilepsies.

Reassessment Of Lesion-Associated Gene And Variant Pathogenicity In Focal Human Epilepsies

The paper reassesses the pathogenicity of gene variants associated with focal human epilepsies using evolutionary constraint, ACMG guidelines, and bioinformatic tools.