Dr

Stephanie Portelli

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Availability

Dr Stephanie Portelli is:
Available for supervision

Qualifications

  • Doctor of Philosophy, University of Melbourne

Search Professor Stephanie Portelli’s works on UQ eSpace

24 works between 2018 and 2024
All (24) Journal Article (20) Book Chapter (4)

1 - 20 of 24 works

2024

Journal Article

<scp>AlzDiscovery</scp>: A computational tool to identify Alzheimer's disease‐causing missense mutations using protein structure information

Pan, Qisheng, Parra, Georgina Becerra, Myung, Yoochan, Portelli, Stephanie, Nguyen, Thanh Binh and Ascher, David B. (2024). AlzDiscovery: A computational tool to identify Alzheimer's disease‐causing missense mutations using protein structure information. Protein Science, 33 (10) ARTN e5147, e5147. doi: 10.1002/pro.5147

<scp>AlzDiscovery</scp>: A computational tool to identify Alzheimer's disease‐causing missense mutations using protein structure information

2024

Journal Article

<scp>MTR3D</scp>‐<scp>AF2</scp>: Expanding the coverage of spatially derived missense tolerance scores across the human proteome using <scp>AlphaFold2</scp>

Kovacs, Aaron S., Portelli, Stephanie, Silk, Michael, Rodrigues, Carlos H. M. and Ascher, David B. (2024). MTR3D‐AF2: Expanding the coverage of spatially derived missense tolerance scores across the human proteome using AlphaFold2. Protein Science, 33 (8) e5112, e5112. doi: 10.1002/pro.5112

<scp>MTR3D</scp>‐<scp>AF2</scp>: Expanding the coverage of spatially derived missense tolerance scores across the human proteome using <scp>AlphaFold2</scp>

2024

Journal Article

A metabolic signature for NADSYN1-dependent congenital NAD deficiency disorder

Szot, Justin O., Cuny, Hartmut, Martin, Ella M.M.A., Sheng, Delicia Z., Iyer, Kavitha, Portelli, Stephanie, Nguyen, Vivien, Gereis, Jessica M., Alankarage, Dimuthu, Chitayat, David, Chong, Karen, Wentzensen, Ingrid M., Vincent-Delormé, Catherine, Lermine, Alban, Burkitt-Wright, Emma, Ji, Weizhen, Jeffries, Lauren, Pais, Lynn S., Tan, Tiong Y., Pitt, James, Wise, Cheryl A., Wright, Helen, Andrews, Israel D., Pruniski, Brianna, Grebe, Theresa A., Corsten-Janssen, Nicole, Bouman, Katelijne, Poulton, Cathryn, Prakash, Supraja ... Dunwoodie, Sally L. (2024). A metabolic signature for NADSYN1-dependent congenital NAD deficiency disorder. Journal of Clinical Investigation, 134 (4) 174824. doi: 10.1172/jci174824

A metabolic signature for NADSYN1-dependent congenital NAD deficiency disorder

2024

Journal Article

Exploring the effects of missense mutations on protein thermodynamics through structure-based approaches: findings from the CAGI6 challenges

Rodrigues, Carlos H. M., Portelli, Stephanie and Ascher, David B. (2024). Exploring the effects of missense mutations on protein thermodynamics through structure-based approaches: findings from the CAGI6 challenges. Human Genetics, 1-9. doi: 10.1007/s00439-023-02623-4

Exploring the effects of missense mutations on protein thermodynamics through structure-based approaches: findings from the CAGI6 challenges

2024

Book Chapter

AI-driven enhancements in drug screening and optimization

Serghini, Adam, Portelli, Stephanie and Ascher, David B. (2024). AI-driven enhancements in drug screening and optimization. Computational drug discovery and design. (pp. 269-294) edited by Mohini Gore and Umesh B. Jagtap. New York, NY, United States: Humana. doi: 10.1007/978-1-0716-3441-7_15

AI-driven enhancements in drug screening and optimization

2024

Journal Article

Characterization on the oncogenic effect of the missense mutations of p53 via machine learning

Pan, Qisheng, Portelli, Stephanie, Nguyen, Thanh Binh and Ascher, David B. (2024). Characterization on the oncogenic effect of the missense mutations of p53 via machine learning. Briefings in Bioinformatics, 25 (1) bbad428, 1-13. doi: 10.1093/bib/bbad428

Characterization on the oncogenic effect of the missense mutations of p53 via machine learning

2023

Journal Article

Characterizing and predicting ccRCC-causing missense mutations in Von Hippel-Lindau disease

Serghini, Adam, Portelli, Stephanie, Troadec, Guillaume, Song, Catherine, Pan, Qisheng, Pires, Douglas E. V. and Ascher, David B. (2023). Characterizing and predicting ccRCC-causing missense mutations in Von Hippel-Lindau disease. Human Molecular Genetics, 33 (3), 224-232. doi: 10.1093/hmg/ddad181

Characterizing and predicting ccRCC-causing missense mutations in Von Hippel-Lindau disease

2023

Journal Article

Identifying innate resistance hotspots for SARS-CoV-2 antivirals using in silico protein techniques

Portelli, Stephanie, Heaton, Ruby and Ascher, David B. (2023). Identifying innate resistance hotspots for SARS-CoV-2 antivirals using in silico protein techniques. Genes, 14 (9) 1699, 1-13. doi: 10.3390/genes14091699

Identifying innate resistance hotspots for SARS-CoV-2 antivirals using in silico protein techniques

2022

Journal Article

Identifying the molecular drivers of ALS-implicated missense mutations

Portelli, Stephanie, Albanaz, Amanda, Pires, Douglas Eduardo Valente and Ascher, David Benjamin (2022). Identifying the molecular drivers of ALS-implicated missense mutations. Journal of Medical Genetics, 60 (5) 108798, 1-7. doi: 10.1136/jmg-2022-108798

Identifying the molecular drivers of ALS-implicated missense mutations

2022

Journal Article

toxCSM: comprehensive prediction of small molecule toxicity profiles

de Sá, Alex G.C., Long, Yangyang, Portelli, Stephanie, Pires, Douglas E.V. and Ascher, David B. (2022). toxCSM: comprehensive prediction of small molecule toxicity profiles. Briefings in Bioinformatics, 23 (5) bbac337, 1-11. doi: 10.1093/bib/bbac337

toxCSM: comprehensive prediction of small molecule toxicity profiles

2021

Journal Article

Definition of the immune evasion-replication interface of rabies virus P protein

Zhan, Jingyu, Harrison, Angela R., Portelli, Stephanie, Nguyen, Thanh Binh, Kojima, Isshu, Zheng, Siqiong, Yan, Fei, Masatani, Tatsunori, Rawlinson, Stephen M., Sethi, Ashish, Ito, Naoto, Ascher, David B., Moseley, Gregory W. and Gooley, Paul R. (2021). Definition of the immune evasion-replication interface of rabies virus P protein. PLOS Pathogens, 17 (7) e1009729, 1-27. doi: 10.1371/journal.ppat.1009729

Definition of the immune evasion-replication interface of rabies virus P protein

2021

Journal Article

Author Correction: Exploring the structural distribution of genetic variation in SARS-CoV-2 with the COVID-3D online resource

Portelli, Stephanie, Olshansky, Moshe, Rodrigues, Carlos H. M., D’Souza, Elston N., Myung, Yoochan, Silk, Michael, Alavi, Azadeh, Pires, Douglas E. V. and Ascher, David B. (2021). Author Correction: Exploring the structural distribution of genetic variation in SARS-CoV-2 with the COVID-3D online resource. Nature Genetics, 53 (2), 254-254. doi: 10.1038/s41588-020-00775-x

Author Correction: Exploring the structural distribution of genetic variation in SARS-CoV-2 with the COVID-3D online resource

2021

Journal Article

Structure-guided machine learning prediction of drug resistance mutations in Abelson 1 kinase

Zhou, Yunzhuo, Portelli, Stephanie, Pat, Megan, Rodrigues, Carlos H.M., Nguyen, Thanh-Binh, Pires, Douglas E.V. and Ascher, David B. (2021). Structure-guided machine learning prediction of drug resistance mutations in Abelson 1 kinase. Computational and Structural Biotechnology Journal, 19, 5381-5391. doi: 10.1016/j.csbj.2021.09.016

Structure-guided machine learning prediction of drug resistance mutations in Abelson 1 kinase

2021

Journal Article

Distinguishing between PTEN clinical phenotypes through mutation analysis

Portelli, Stephanie, Barr, Lucy, de Sá, Alex G.C., Pires, Douglas E.V. and Ascher, David B. (2021). Distinguishing between PTEN clinical phenotypes through mutation analysis. Computational and Structural Biotechnology Journal, 19, 3097-3109. doi: 10.1016/j.csbj.2021.05.028

Distinguishing between PTEN clinical phenotypes through mutation analysis

2021

Book Chapter

Identifying genotype-phenotype correlations via integrative mutation analysis

Airey, Edward, Portelli, Stephanie, Xavier, Joicymara S, Myung, Yoo Chan, Silk, Michael, Karmakar, Malancha, Velloso, João P L, Rodrigues, Carlos H M, Parate, Hardik H, Garg, Anjali, Al-Jarf, Raghad, Barr, Lucy, Geraldo, Juliana A, Rezende, Pâmela M, Pires, Douglas E V and Ascher, David B (2021). Identifying genotype-phenotype correlations via integrative mutation analysis. Artificial neural networks. (pp. 1-32) edited by Hugh Cartwright. New York, NY, United States: Humana. doi: 10.1007/978-1-0716-0826-5_1

Identifying genotype-phenotype correlations via integrative mutation analysis

2020

Journal Article

ThermoMutDB: a thermodynamic database for missense mutations

Xavier, Joicymara S, Nguyen, Thanh-Binh, Karmarkar, Malancha, Portelli, Stephanie, Rezende, Pâmela M, Velloso, João P L, Ascher, David B and Pires, Douglas E V (2020). ThermoMutDB: a thermodynamic database for missense mutations. Nucleic Acids Research, 49 (D1), D475-D479. doi: 10.1093/nar/gkaa925

ThermoMutDB: a thermodynamic database for missense mutations

2020

Journal Article

Prediction of rifampicin resistance beyond the RRDR using structure-based machine learning approaches

Portelli, Stephanie, Myung, Yoochan, Furnham, Nicholas, Vedithi, Sundeep Chaitanya, Pires, Douglas E. V. and Ascher, David B. (2020). Prediction of rifampicin resistance beyond the RRDR using structure-based machine learning approaches. Scientific Reports, 10 (1) 18120, 1-13. doi: 10.1038/s41598-020-74648-y

Prediction of rifampicin resistance beyond the RRDR using structure-based machine learning approaches

2020

Journal Article

Exploring the structural distribution of genetic variation in SARS-CoV-2 with the COVID-3D online resource

Portelli, Stephanie, Olshansky, Moshe, Rodrigues, Carlos H. M., D’Souza, Elston N., Myung, Yoochan, Silk, Michael, Alavi, Azadeh, Pires, Douglas E. V. and Ascher, David B. (2020). Exploring the structural distribution of genetic variation in SARS-CoV-2 with the COVID-3D online resource. Nature Genetics, 52 (10), 999-1001. doi: 10.1038/s41588-020-0693-3

Exploring the structural distribution of genetic variation in SARS-CoV-2 with the COVID-3D online resource

2020

Journal Article

Computational saturation mutagenesis to predict structural consequences of systematic mutations in the beta subunit of RNA polymerase in

Vedithi, Sundeep Chaitanya, Rodrigues, Carlos H. M., Portelli, Stephanie, Skwark, Marcin J., Das, Madhusmita, Ascher, David B., Blundell, Tom L. and Malhotra, Sony (2020). 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. doi: 10.1016/j.csbj.2020.01.002

Computational saturation mutagenesis to predict structural consequences of systematic mutations in the beta subunit of RNA polymerase in

2020

Journal Article

Combining structure and genomics to understand antimicrobial resistance

Tunstall, Tanushree, Portelli, Stephanie, Phelan, Jody, Clark, Taane G., Ascher, David B. and Furnham, Nicholas (2020). Combining structure and genomics to understand antimicrobial resistance. Computational and Structural Biotechnology Journal, 18, 3377-3394. doi: 10.1016/j.csbj.2020.10.017

Combining structure and genomics to understand antimicrobial resistance

Availability

Dr Stephanie Portelli is:
Available for supervision

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Supervision history

Current supervision

Enquiries

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