Stephanie Portelli - Publications

Affiliations: 
University of Melbourne, Australia 

22 high-probability publications. We are testing a new system for linking publications to authors. You can help! If you notice any inaccuracies, please sign in and mark papers as correct or incorrect matches. If you identify any major omissions or other inaccuracies in the publication list, please let us know.

Year Citation  Score
2024 Szot JO, Cuny H, Martin EM, Sheng DZ, Iyer K, Portelli S, Nguyen V, Gereis JM, Alankarage D, Chitayat D, Chong K, Wentzensen IM, Vincent-Delormé C, Lermine A, Burkitt-Wright E, et al. A metabolic signature for NADSYN1-dependent congenital NAD deficiency disorder. The Journal of Clinical Investigation. 134. PMID 38357931 DOI: 10.1172/JCI174824  0.52
2024 Rodrigues CHM, Portelli S, Ascher DB. Exploring the effects of missense mutations on protein thermodynamics through structure-based approaches: findings from the CAGI6 challenges. Human Genetics. PMID 38227011 DOI: 10.1007/s00439-023-02623-4  0.701
2023 Pan Q, Portelli S, Nguyen TB, Ascher DB. Characterization on the oncogenic effect of the missense mutations of p53 via machine learning. Briefings in Bioinformatics. 25. PMID 38018912 DOI: 10.1093/bib/bbad428  0.786
2023 Serghini A, Portelli S, Troadec G, Song C, Pan Q, Pires DEV, Ascher DB. Characterizing and predicting ccRCC-causing missense mutations in Von Hippel-Lindau disease. Human Molecular Genetics. PMID 37883464 DOI: 10.1093/hmg/ddad181  0.785
2023 Portelli S, Heaton R, Ascher DB. Identifying Innate Resistance Hotspots for SARS-CoV-2 Antivirals Using In Silico Protein Techniques. Genes. 14. PMID 37761839 DOI: 10.3390/genes14091699  0.599
2023 Serghini A, Portelli S, Ascher DB. AI-Driven Enhancements in Drug Screening and Optimization. Methods in Molecular Biology (Clifton, N.J.). 2714: 269-294. PMID 37676604 DOI: 10.1007/978-1-0716-3441-7_15  0.532
2022 Portelli S, Albanaz A, Pires DEV, Ascher DB. Identifying the molecular drivers of ALS-implicated missense mutations. Journal of Medical Genetics. PMID 36180205 DOI: 10.1136/jmg-2022-108798  0.598
2022 de Sá AGC, Long Y, Portelli S, Pires DEV, Ascher DB. toxCSM: comprehensive prediction of small molecule toxicity profiles. Briefings in Bioinformatics. 23. PMID 35998885 DOI: 10.1093/bib/bbac337  0.562
2021 Zhou Y, Portelli S, Pat M, Rodrigues CHM, Nguyen TB, Pires DEV, Ascher DB. Structure-guided machine learning prediction of drug resistance mutations in Abelson 1 kinase. Computational and Structural Biotechnology Journal. 19: 5381-5391. PMID 34667533 DOI: 10.1016/j.csbj.2021.09.016  0.794
2021 Zhan J, Harrison AR, Portelli S, Nguyen TB, Kojima I, Zheng S, Yan F, Masatani T, Rawlinson SM, Sethi A, Ito N, Ascher DB, Moseley GW, Gooley PR. Definition of the immune evasion-replication interface of rabies virus P protein. Plos Pathogens. 17: e1009729. PMID 34237115 DOI: 10.1371/journal.ppat.1009729  0.667
2021 Portelli S, Barr L, de Sá AGC, Pires DEV, Ascher DB. Distinguishing between PTEN clinical phenotypes through mutation analysis. Computational and Structural Biotechnology Journal. 19: 3097-3109. PMID 34141133 DOI: 10.1016/j.csbj.2021.05.028  0.648
2021 Portelli S, Olshansky M, Rodrigues CHM, D'Souza EN, Myung Y, Silk M, Alavi A, Pires DEV, Ascher DB. Author Correction: Exploring the structural distribution of genetic variation in SARS-CoV-2 with the COVID-3D online resource. Nature Genetics. PMID 33398199 DOI: 10.1038/s41588-020-00775-x  0.737
2021 Airey E, Portelli S, Xavier JS, Myung YC, Silk M, Karmakar M, Velloso JPL, Rodrigues CHM, Parate HH, Garg A, Al-Jarf R, Barr L, Geraldo JA, Rezende PM, Pires DEV, et al. Identifying Genotype-Phenotype Correlations via Integrative Mutation Analysis. Methods in Molecular Biology (Clifton, N.J.). 2190: 1-32. PMID 32804359 DOI: 10.1007/978-1-0716-0826-5_1  0.642
2020 Tunstall T, Portelli S, Phelan J, Clark TG, Ascher DB, Furnham N. Combining structure and genomics to understand antimicrobial resistance. Computational and Structural Biotechnology Journal. 18: 3377-3394. PMID 33294134 DOI: 10.1016/j.csbj.2020.10.017  0.657
2020 Xavier JS, Nguyen TB, Karmarkar M, Portelli S, Rezende PM, Velloso JPL, Ascher DB, Pires DEV. ThermoMutDB: a thermodynamic database for missense mutations. Nucleic Acids Research. PMID 33095862 DOI: 10.1093/nar/gkaa925  0.733
2020 Portelli S, Myung Y, Furnham N, Vedithi SC, Pires DEV, Ascher DB. Prediction of rifampicin resistance beyond the RRDR using structure-based machine learning approaches. Scientific Reports. 10: 18120. PMID 33093532 DOI: 10.1038/s41598-020-74648-y  0.799
2020 Portelli S, Olshansky M, Rodrigues CHM, D'Souza EN, Myung Y, Silk M, Alavi A, Pires DEV, Ascher DB. Exploring the structural distribution of genetic variation in SARS-CoV-2 with the COVID-3D online resource. Nature Genetics. PMID 32908256 DOI: 10.1038/s41588-020-0693-3  0.737
2020 Vedithi SC, Rodrigues CHM, Portelli S, Skwark MJ, Das M, Ascher DB, Blundell TL, Malhotra S. Computational saturation mutagenesis to predict structural consequences of systematic mutations in the beta subunit of RNA polymerase in . Computational and Structural Biotechnology Journal. 18: 271-286. PMID 32042379 DOI: 10.1016/J.Csbj.2020.01.002  0.71
2020 Pires DEV, Portelli S, Rezende PM, Veloso WNP, Xavier JS, Karmakar M, Myung Y, Linhares JPV, Rodrigues CHM, Silk M, Ascher DB. A Comprehensive Computational Platform to Guide Drug Development Using Graph-Based Signature Methods. Methods in Molecular Biology (Clifton, N.J.). 2112: 91-106. PMID 32006280 DOI: 10.1007/978-1-0716-0270-6_7  0.69
2019 Pires DEV, Rodrigues CHM, Albanaz ATS, Karmakar M, Myung Y, Xavier J, Michanetzi EM, Portelli S, Ascher DB. Exploring Protein Supersecondary Structure Through Changes in Protein Folding, Stability, and Flexibility. Methods in Molecular Biology (Clifton, N.J.). 1958: 173-185. PMID 30945219 DOI: 10.1007/978-1-4939-9161-7_9  0.785
2018 Portelli S, Phelan JE, Ascher DB, Clark TG, Furnham N. Understanding molecular consequences of putative drug resistant mutations in Mycobacterium tuberculosis. Scientific Reports. 8: 15356. PMID 30337649 DOI: 10.1038/S41598-018-33370-6  0.639
2018 Coll F, Phelan J, Hill-Cawthorne GA, Nair MB, Mallard K, Ali S, Abdallah AM, Alghamdi S, Alsomali M, Ahmed AO, Portelli S, Oppong Y, Alves A, Bessa TB, Campino S, et al. Genome-wide analysis of multi- and extensively drug-resistant Mycobacterium tuberculosis. Nature Genetics. PMID 29358649 DOI: 10.1038/S41588-017-0029-0  0.338
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