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Page 1
SLC6A1 variant pathogenicity, molecular function and phenotype: a genetic and clinical analysis.
Stefanski A, Pérez-Palma E, Brünger T, Montanucci L, Gati C, Klöckner C, Johannesen KM, Goodspeed K, Macnee M, Deng AT, Aledo-Serrano Á, Borovikov A, Kava M, Bouman AM, Hajianpour MJ, Pal DK, Engelen M, Hagebeuk EEO, Shinawi M, Heidlebaugh AR, Oetjens K, Hoffman TL, Striano P, Freed AS, Futtrup L, Balslev T, Abulí A, Danvoye L, Lederer D, Balci T, Nouri MN, Butler E, Drewes S, van Engelen K, Howell KB, Khoury J, May P, Trinidad M, Froelich S, Lemke JR, Tiller J, Freed AN, Kang JQ, Wuster A, Møller RS, Lal D. Stefanski A, et al. Among authors: macnee m. 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.
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.
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.
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.