Publications by authors named "Marie Macnee"

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SLC6A1 variant pathogenicity, molecular function and phenotype: a genetic and clinical analysis.
Arthur Stefanski, Eduardo Pérez-Palma, Tobias Brünger, Ludovica Montanucci, Cornelius Gati, Marie Macnee

Brain· December 2023

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Genome-wide identification and phenotypic characterization of seizure-associated copy number variations in 741,075 individuals.
Ludovica Montanucci, David Lewis-Smith, Ryan L Collins, Lisa-Marie Niestroj, Shridhar Parthasarathy, Marie Macnee

Nat Commun· July 2023

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CNV-ClinViewer: enhancing the clinical interpretation of large copy-number variants online.
Marie Macnee, Eduardo Pérez-Palma, Tobias Brünger, Chiara Klöckner, Konrad Platzer

Bioinformatics· May 2023

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The genomic landscape across 474 surgically accessible epileptogenic human brain lesions.
Javier A López-Rivera, Costin Leu, Marie Macnee, Jean Khoury, Lucas Hoffmann

Brain· April 2023

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Delineation of functionally essential protein regions for 242 neurodevelopmental genes.
Sumaiya Iqbal, Tobias Brünger, Eduardo Pérez-Palma, Marie Macnee, Andreas Brunklaus

Brain· February 2023

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Data-driven historical characterization of epilepsy-associated genes.
Marie Macnee, Eduardo Pérez-Palma, Javier A López-Rivera, Alina Ivaniuk, Patrick May

Eur J Paediatr Neurol· January 2023

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SimText: a text mining framework for interactive analysis and visualization of similarities among biomedical entities.
Marie Macnee, Eduardo Pérez-Palma, Sarah Schumacher-Bass, Jarrod Dalton, Costin Leu

Bioinformatics· November 2021

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