Montanucci L - Search Results

1

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. Nat Commun. 2023 Jul 20;14(1):4392. doi: 10.1038/s41467-023-39539-6. Nat Commun. 2023. PMID: 37474567 Free PMC article.

2

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. Among authors: montanucci l. Bioinformatics. 2023 May 4;39(5):btad290. doi: 10.1093/bioinformatics/btad290. Bioinformatics. 2023. PMID: 37104749 Free PMC article.

3

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: montanucci l. Brain. 2023 Dec 1;146(12):5198-5208. doi: 10.1093/brain/awad292. Brain. 2023. PMID: 37647852 Free PMC article.

4

Reply: Follow the allosteric transitions to predict variant pathogenicity: a channel-specific approach.

Montanucci L, Brünger T, Lal D. Montanucci L, et al. Brain. 2024 May 3;147(5):e41-e42. doi: 10.1093/brain/awae009. Brain. 2024. PMID: 38207091 No abstract available.

5

An In Vivo Whole-Transcriptomic Approach to Assess Developmental and Reproductive Impairments Caused by Flumequine in Daphnia magna.

Pietropoli E, Pauletto M, Tolosi R, Iori S, Lopparelli RM, Montanucci L, Giantin M, Dacasto M, De Liguoro M. Pietropoli E, et al. Among authors: montanucci l. Int J Mol Sci. 2023 May 28;24(11):9396. doi: 10.3390/ijms24119396. Int J Mol Sci. 2023. PMID: 37298348 Free PMC article.

6

Generation and characterization of cytochrome P450 3A74 CRISPR/Cas9 knockout bovine foetal hepatocyte cell line (BFH12).

Iori S, D'Onofrio C, Laham-Karam N, Mushimiyimana I, Lucatello L, Montanucci L, Lopparelli RM, Bonsembiante F, Capolongo F, Pauletto M, Dacasto M, Giantin M. Iori S, et al. Among authors: montanucci l. Biochem Pharmacol. 2024 Apr 20;224:116231. doi: 10.1016/j.bcp.2024.116231. Online ahead of print. Biochem Pharmacol. 2024. PMID: 38648904 Free article.

7

Discovering the Protective Effects of Quercetin on Aflatoxin B1-Induced Toxicity in Bovine Foetal Hepatocyte-Derived Cells (BFH12).

Pauletto M, Giantin M, Tolosi R, Bassan I, Bardhi A, Barbarossa A, Montanucci L, Zaghini A, Dacasto M. Pauletto M, et al. Among authors: montanucci l. Toxins (Basel). 2023 Sep 6;15(9):555. doi: 10.3390/toxins15090555. Toxins (Basel). 2023. PMID: 37755981 Free PMC article.

8

Conserved patterns across ion channels correlate with variant pathogenicity and clinical phenotypes.

Brünger T, Pérez-Palma E, Montanucci L, Nothnagel M, Møller RS, Schorge S, Zuberi S, Symonds J, Lemke JR, Brunklaus A, Traynelis SF, May P, Lal D. Brünger T, et al. Among authors: montanucci l. Brain. 2023 Mar 1;146(3):923-934. doi: 10.1093/brain/awac305. Brain. 2023. PMID: 36036558 Free PMC article.

9

DDGun: an untrained predictor of protein stability changes upon amino acid variants.

Montanucci L, Capriotti E, Birolo G, Benevenuta S, Pancotti C, Lal D, Fariselli P. Montanucci L, et al. Nucleic Acids Res. 2022 Jul 5;50(W1):W222-W227. doi: 10.1093/nar/gkac325. Nucleic Acids Res. 2022. PMID: 35524565 Free PMC article.

10

Limitations and challenges in protein stability prediction upon genome variations: towards future applications in precision medicine.

Sanavia T, Birolo G, Montanucci L, Turina P, Capriotti E, Fariselli P. Sanavia T, et al. Among authors: montanucci l. Comput Struct Biotechnol J. 2020 Jul 24;18:1968-1979. doi: 10.1016/j.csbj.2020.07.011. eCollection 2020. Comput Struct Biotechnol J. 2020. PMID: 32774791 Free PMC article. Review.

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