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Cristina Fortuno

QIMR Berghofer Medical Research Institute

12

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96

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An updated quantitative model to classify missense variants in the TP53 gene: a novel multifactorial strategy

2021 Human Mutation
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Breast cancer risks associated with missense variants in breast cancer susceptibility genes

2021 medRxiv
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Quantitative modeling: multifactorial integration of data

2021
- Bryony A. Thompson
- Cristina Fortuno
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Suspected clonal hematopoiesis as a natural functional assay of TP53 germline variant pathogenicity

2021 Genetics in Medicine
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Specifications of the ACMG/AMP variant interpretation guidelines for germline TP53 variants.

2020 Human Mutation
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Differences in patient ascertainment affect the use of gene‐specified ACMG/AMP phenotype‐related variant classification criteria: evidence for TP53

2020 Human Mutation
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Suggested application of HER2+ breast tumor phenotype for germline TP53 variant classification within ACMG/AMP guidelines.

2020 Human Mutation
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Genotype-phenotype correlations among TP53 carriers: Literature review and analysis of probands undergoing multi-gene panel testing and single-gene testing.

2020 Cancer Genetics and Cytogenetics
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A quantitative model to predict pathogenicity of missense variants in the TP53 gene.

2019 Human Mutation
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p53 major hotspot variants are associated with poorer prognostic features in hereditary cancer patients

2019 Cancer Genetics and Cytogenetics
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Citations (9)