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Page 1
Guidelines for releasing a variant effect predictor.
ArXiv [Preprint]. 2024 Apr 16:arXiv:2404.10807v1.
ArXiv. 2024.
PMID: 38699161
Free PMC article.
Preprint.
Interface Gain-of-Function Mutations in TLR7 Cause Systemic and Neuro-inflammatory Disease.
David C, Badonyi M, Kechiche R, Insalaco A, Zecca M, De Benedetti F, Orcesi S, Chiapparini L, Comoli P, Federici S, Gattorno M, Ginevrino M, Giorgio E, Matteo V, Moran-Alvarez P, Politano D, Prencipe G, Sirchia F, Volpi S, Masson C, Rice GI, Frémond ML, Lepelley A, Marsh JA, Crow YJ.
David C, et al. Among authors: badonyi m.
J Clin Immunol. 2024 Feb 7;44(2):60. doi: 10.1007/s10875-024-01660-6.
J Clin Immunol. 2024.
PMID: 38324161
Free PMC article.
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CDK4/6 inhibitor-mediated cell overgrowth triggers osmotic and replication stress to promote senescence.
Crozier L, Foy R, Adib R, Kar A, Holt JA, Pareri AU, Valverde JM, Rivera R, Weston WA, Wilson R, Regnault C, Whitfield P, Badonyi M, Bennett LG, Vernon EG, Gamble A, Marsh JA, Staples CJ, Saurin AT, Barr AR, Ly T.
Crozier L, et al. Among authors: badonyi m.
Mol Cell. 2023 Nov 16;83(22):4062-4077.e5. doi: 10.1016/j.molcel.2023.10.016. Epub 2023 Nov 16.
Mol Cell. 2023.
PMID: 37977118
Free article.
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Buffering of genetic dominance by allele-specific protein complex assembly.
Badonyi M, Marsh JA.
Badonyi M, et al.
Sci Adv. 2023 Jun 2;9(22):eadf9845. doi: 10.1126/sciadv.adf9845. Epub 2023 May 31.
Sci Adv. 2023.
PMID: 37256959
Free PMC article.
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Hallmarks and evolutionary drivers of cotranslational protein complex assembly.
Badonyi M, Marsh JA.
Badonyi M, et al.
FEBS J. 2023 May 18. doi: 10.1111/febs.16869. Online ahead of print.
FEBS J. 2023.
PMID: 37202910
Review.
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Type I Interferonopathy due to a Homozygous Loss-of-Inhibitory Function Mutation in STAT2.
Zhu G, Badonyi M, Franklin L, Seabra L, Rice GI, Anne-Boland-Auge, Deleuze JF, El-Chehadeh S, Anheim M, de Saint-Martin A, Pellegrini S, Marsh JA, Crow YJ, El-Daher MT.
Zhu G, et al. Among authors: badonyi m.
J Clin Immunol. 2023 May;43(4):808-818. doi: 10.1007/s10875-023-01445-3. Epub 2023 Feb 8.
J Clin Immunol. 2023.
PMID: 36753016
Free PMC article.
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Expanding the neurodevelopmental phenotype associated with HK1 de novo heterozygous missense variants.
Poole RL, Badonyi M, Cozens A, Foulds N, Marsh JA, Rahman S, Ross A, Schooley J, Straub V, Quigley AJ, FitzPatrick D, Lampe A.
Poole RL, et al. Among authors: badonyi m.
Eur J Med Genet. 2023 Mar;66(3):104696. doi: 10.1016/j.ejmg.2023.104696. Epub 2023 Jan 10.
Eur J Med Genet. 2023.
PMID: 36639056
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Large protein complex interfaces have evolved to promote cotranslational assembly.
Badonyi M, Marsh JA.
Badonyi M, et al.
Elife. 2022 Jul 28;11:e79602. doi: 10.7554/eLife.79602.
Elife. 2022.
PMID: 35899946
Free PMC article.
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