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SLC6A1 variant pathogenicity, molecular function and phenotype: a genetic and clinical analysis.
Brain. 2023 Dec 1;146(12):5198-5208. doi: 10.1093/brain/awad292.
Brain. 2023.
PMID: 37647852
Free PMC article.
Genome-wide identification and phenotypic characterization of seizure-associated copy number variations in 741,075 individuals.
Montanucci L, Lewis-Smith D, Collins RL, Niestroj LM, Parthasarathy S, Xian J, Ganesan S, Macnee M, Brünger T, Thomas RH, Talkowski M; Epi25 Collaborative; Helbig I, Leu C, Lal D.
Montanucci L, et al. Among authors: macnee m.
Nat Commun. 2023 Jul 20;14(1):4392. doi: 10.1038/s41467-023-39539-6.
Nat Commun. 2023.
PMID: 37474567
Free PMC article.
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CNV-ClinViewer: enhancing the clinical interpretation of large copy-number variants online.
Macnee M, Pérez-Palma E, Brünger T, Klöckner C, Platzer K, Stefanski A, Montanucci L, Bayat A, Radtke M, Collins RL, Talkowski M, Blankenberg D, Møller RS, Lemke JR, Nothnagel M, May P, Lal D.
Macnee M, et al.
Bioinformatics. 2023 May 4;39(5):btad290. doi: 10.1093/bioinformatics/btad290.
Bioinformatics. 2023.
PMID: 37104749
Free PMC article.
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Data-driven historical characterization of epilepsy-associated genes.
Macnee M, Pérez-Palma E, López-Rivera JA, Ivaniuk A, May P, Møller RS, Lal D.
Macnee M, et al.
Eur J Paediatr Neurol. 2023 Jan;42:82-87. doi: 10.1016/j.ejpn.2022.12.005. Epub 2022 Dec 14.
Eur J Paediatr Neurol. 2023.
PMID: 36586220
Free article.
Review.
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Delineation of functionally essential protein regions for 242 neurodevelopmental genes.
Iqbal S, Brünger T, Pérez-Palma E, Macnee M, Brunklaus A, Daly MJ, Campbell AJ, Hoksza D, May P, Lal D.
Iqbal S, et al. Among authors: macnee m.
Brain. 2023 Feb 13;146(2):519-533. doi: 10.1093/brain/awac381.
Brain. 2023.
PMID: 36256779
Free PMC article.
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The genomic landscape across 474 surgically accessible epileptogenic human brain lesions.
López-Rivera JA, Leu C, Macnee M, Khoury J, Hoffmann L, Coras R, Kobow K, Bhattarai N, Pérez-Palma E, Hamer H, Brandner S, Rössler K, Bien CG, Kalbhenn T, Pieper T, Hartlieb T, Butler E, Genovese G, Becker K, Altmüller J, Niestroj LM, Ferguson L, Busch RM, Nürnberg P, Najm I, Blümcke I, Lal D.
López-Rivera JA, et al. Among authors: macnee m.
Brain. 2023 Apr 19;146(4):1342-1356. doi: 10.1093/brain/awac376.
Brain. 2023.
PMID: 36226386
Free PMC article.
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SimText: a text mining framework for interactive analysis and visualization of similarities among biomedical entities.
Macnee M, Pérez-Palma E, Schumacher-Bass S, Dalton J, Leu C, Blankenberg D, Lal D.
Macnee M, et al.
Bioinformatics. 2021 Nov 18;37(22):4285-4287. doi: 10.1093/bioinformatics/btab365.
Bioinformatics. 2021.
PMID: 34037702
Free PMC article.
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