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Andrea M. Gazzo

PMut: a web-based tool for the annotation of pathological variants on proteins, 2017 update
2017 · Víctor López-Ferrando, Andrea Gazzo, et al. · Nucleic Acids Research · 253
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DEOGEN2: prediction and interactive visualization of single amino acid variant deleteriousness in human proteins
2017 · Daniele Raimondi, Ibrahim Tanyalcin, et al. · Nucleic Acids Research · 211
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DIDA: A curated and annotated digenic diseases database
2015 · Andrea M. Gazzo, Dorien Daneels, et al. · Nucleic Acids Research · 105
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Predicting disease-causing variant combinations
2019 · Sofia Papadimitriou, Andrea Gazzo, et al. · Proceedings of the National Academy of Sciences · 99
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Whole-Exome Sequencing Analysis of the Progression from Non–Low-Grade Ductal Carcinoma In Situ to Invasive Ductal Carcinoma
2020 · Fresia Pareja, David N. Brown, et al. · Clinical Cancer Research · 79
Understanding mutational effects in digenic diseases
2017 · Andrea Gazzo, Daniele Raimondi, et al. · Nucleic Acids Research · 60
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APOBEC mutagenesis, kataegis, chromothripsis in EGFR-mutant osimertinib-resistant lung adenocarcinomas
2022 · P. Selenica, A. Marra, et al. · Annals of Oncology · 51
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APOBEC3 mutagenesis drives therapy resistance in breast cancer
2025 · Avantika Gupta, Andrea Gazzo, et al. · Nature Genetics · 45
Genomic Profiling Reveals Germline Predisposition and Homologous Recombination Deficiency in Pancreatic Acinar Cell Carcinoma
2023 · Diana Mandelker, Antonio Marra, et al. · Journal of Clinical Oncology · 45
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Multilevel biological characterization of exomic variants at the protein level significantly improves the identification of their deleterious effects
2016 · Daniele Raimondi, Andrea M. Gazzo, et al. · Bioinformatics · 37
TERT promoter hotspot mutations and gene amplification in metaplastic breast cancer
2021 · Edaise M. da Silva, Pier Selenica, et al. · npj Breast Cancer · 31
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Genomic and epigenomic basis of breast invasive lobular carcinomas lacking CDH1 genetic alterations
2024 · Higinio Dopeso, Andrea M. Gazzo, et al. · npj Precision Oncology · 29
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Lynch Syndrome and Somatic Mismatch Repair Variants in Pancreas Cancer
2024 · Catherine A. O’Connor, Emily Harrold, et al. · JAMA Oncology · 24
Using game theory and decision decomposition to effectively discern and characterise bi-locus diseases
2019 · Nassim Versbraegen, Aziz Fouché, et al. · Artificial Intelligence in Medicine · 24
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Converging and evolving immuno-genomic routes toward immune escape in breast cancer
2024 · Juan Blanco-Heredia, Carla Anjos Souza, et al. · Nature Communications · 22
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A Genomics-Driven Artificial Intelligence – Based Model Classifies Breast Invasive Lobular Carcinoma and Discovers CDH1 Inactivating Mechanisms
2024 · Fresia Pareja, Higinio Dopeso, et al. · Cancer Research · 21
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Pan-Cancer Analysis of Oncogenic MET Fusions Reveals Distinct Pathogenomic Subsets with Differential Sensitivity to MET-Targeted Therapy
2025 · Christopher A. Febres-Aldana, Morana Vojnic, et al. · Cancer Discovery · 20
Concurrent POLE hotspot mutations and mismatch repair deficiency/microsatellite instability in endometrial cancer: A challenge in molecular classification
2024 · Sara Moufarrij, Andrea Gazzo, et al. · Gynecologic Oncology · 15
Clinicopathologic and genomic features of lobular like invasive mammary carcinoma: is it a distinct entity?
2023 · Jing Yu, Edaise M. da Silva, et al. · npj Breast Cancer · 15
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Interferon response and epigenetic modulation by SMARCA4 mutations drive ovarian tumor immunogenicity
2024 · Melica Nourmoussavi Brodeur, Higinio Dopeso, et al. · Science Advances · 13
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RNA transcripts serve as a template for double-strand break repair in human cells
2025 · Manisha Jalan, Alessandra Brambati, et al. · Nature Communications · 12
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RB1 Genetic Alterations in Estrogen Receptor–Positive Breast Carcinomas: Correlation With Neuroendocrine Differentiation
2024 · Christopher J. Schwartz, Antonio Marra, et al. · Modern Pathology · 12
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Decoding the blueprint of receptor binding by filoviruses through large-scale binding assays and machine learning
2025 · Gorka Lasso, Michael Grodus, et al. · Cell Host & Microbe · 11
Genomic profiling of primary and metastatic thyroid cancers
2023 · Valdemar Máximo, Miguel Melo, et al. · Endocrine Related Cancer · 9
Whole‐exome sequencing analysis of juvenile papillomatosis and coexisting breast carcinoma
2020 · Timothy M D'Alfonso, Fresia Pareja, et al. · The Journal of Pathology Clinical Research · 8
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Works count: 158
Citation count: 1,331
H-index: 17
I10-index: 23
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