Marie Macnee
Koeln, NW 50931, Germany
Last Updated: 09/26/2026
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Found 9 publications
Gene Portals: A Framework for Integrating Clinical, Functional, and Structural Evidence into Rare Disease Variant Classification.
Journal: medRxiv : the preprint server for health sciences
Published: March 13, 2026
Gene Portals: A Framework for Integrating Clinical, Functional, and Structural Evidence into Rare Disease Variant Classification.
Journal: medRxiv : the preprint server for health sciences
Published: March 13, 2026
SLC6A1 variant pathogenicity, molecular function and phenotype: a genetic and clinical analysis.
Journal: Brain : a journal of neurology
Published: December 16, 2022
Genome-wide identification and phenotypic characterization of seizure-associated copy number variations in 741,075 individuals.
Journal: Nature communications
Published: August 03, 2022
Data-driven historical characterization of epilepsy-associated genes.
Journal: European journal of paediatric neurology : EJPN : official journal of the European Paediatric Neurology Society
Published: July 04, 2022
Delineation of functionally essential protein regions for 242 neurodevelopmental genes.
Journal: Brain : a journal of neurology
Published: June 29, 2022
CNV-ClinViewer: enhancing the clinical interpretation of large copy-number variants online.
Journal: Bioinformatics (Oxford, England)
Published: June 14, 2022
The genomic landscape across 474 surgically accessible epileptogenic human brain lesions.
Journal: Brain : a journal of neurology
Published: February 16, 2022
SimText: a text mining framework for interactive analysis and visualization of similarities among biomedical entities.
Journal: Bioinformatics (Oxford, England)
Published: October 30, 2020
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Last Updated: 09/26/2026