Marie Macnee

The genomic landscape across 474 surgically accessible epileptogenic human brain lesions

I. Blümcke, G. Genovese, I. Najm, 2022, medRxiv.

Data-driven historical characterization of epilepsy-associated genes.

P. May, E. Pérez-Palma, D. Lal, 2022, European journal of paediatric neurology : EJPN : official journal of the European Paediatric Neurology Society.

Delineation of functionally essential protein regions for 242 neurodevelopmental genes

M. Daly, P. May, S. Iqbal, 2022, Brain : a journal of neurology.

Genome-wide identification and phenotypic characterization of seizure-associated copy number variations in 741,075 individuals

Ryan L. Collins, M. Talkowski, I. Helbig, 2023, Nature communications.

CNV-ClinViewer: enhancing the clinical interpretation of large copy-number variants online

Ryan L. Collins, Daniel J. Blankenberg, P. May, 2022, medRxiv.

SLC6A1 variant pathogenicity, molecular function and phenotype: a genetic and clinical analysis

P. May, P. Striano, A. Wuster, 2023, Brain : a journal of neurology.