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Cristina Fortuno

Showing results (1-10 of 35) with videos related to

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Human Mutation|September 22, 2018
Current review of TP53 pathogenic germline variants in breast cancer patients outside Li-Fraumeni syndromeCristina Fortuno, Paul A James, Amanda B Spurdle
JCO Precision Oncology|May 31, 2024
Reply to S. Li et alCristina Fortuno, Amanda B Spurdle, Paul A James
HGG Advances|July 23, 2025
Characteristics predicting reduced penetrance variants in the high-risk cancer predisposition gene TP53Cristina Fortuno, Marcy E Richardson, Tina Pesaran, et al.
Journal of Medical Genetics|August 3, 2023
<i>CHEK2</i> is not a Li-Fraumeni syndrome gene: time to update public resourcesCristina Fortuno, Marcy Richardson, Tina Pesaran, et al.
Human Mutation|February 22, 2022
Estimating the proportion of pathogenic variants from breast cancer case-control data: Application to calibration of ACMG/AMP variant classification criteriaPaul A James, Cristina Fortuno, Na Li, et al.
Cancer Genetics|September 23, 2020
Genotype-phenotype correlations among TP53 carriers: Literature review and analysis of probands undergoing multi-gene panel testing and single-gene testingCristina Fortuno, Tina Pesaran, Jessica Mester, et al.
Journal of Medical Genetics|December 30, 2023
Clinical implications of VUS reclassification in a single-centre series from application of ACMG/AMP classification rules specified for <i>BRCA1/2</i>Giovanni Innella, Simona Ferrari, Sara Miccoli, et al.
Human Mutation|January 4, 2020
Differences in patient ascertainment affect the use of gene-specified ACMG/AMP phenotype-related variant classification criteria: Evidence for TP53Cristina Fortuno, Tina Pesaran, Jill Dolinsky, et al.
Cancer Genetics|July 13, 2019
p53 major hotspot variants are associated with poorer prognostic features in hereditary cancer patientsCristina Fortuno, Tina Pesaran, Jill Dolinsky, et al.
Human Mutation|May 19, 2018
Improved, ACMG-compliant, in silico prediction of pathogenicity for missense substitutions encoded by TP53 variantsCristina Fortuno, Paul A James, Erin L Young, et al.
Pageof 4

Showing results (1-10 of 35) with videos related to

Sort By:
Pageof 4
Human Mutation|September 22, 2018
Current review of TP53 pathogenic germline variants in breast cancer patients outside Li-Fraumeni syndromeCristina Fortuno, Paul A James, Amanda B Spurdle
JCO Precision Oncology|May 31, 2024
Reply to S. Li et alCristina Fortuno, Amanda B Spurdle, Paul A James
HGG Advances|July 23, 2025
Characteristics predicting reduced penetrance variants in the high-risk cancer predisposition gene TP53Cristina Fortuno, Marcy E Richardson, Tina Pesaran, et al.
Journal of Medical Genetics|August 3, 2023
<i>CHEK2</i> is not a Li-Fraumeni syndrome gene: time to update public resourcesCristina Fortuno, Marcy Richardson, Tina Pesaran, et al.
Human Mutation|February 22, 2022
Estimating the proportion of pathogenic variants from breast cancer case-control data: Application to calibration of ACMG/AMP variant classification criteriaPaul A James, Cristina Fortuno, Na Li, et al.
Cancer Genetics|September 23, 2020
Genotype-phenotype correlations among TP53 carriers: Literature review and analysis of probands undergoing multi-gene panel testing and single-gene testingCristina Fortuno, Tina Pesaran, Jessica Mester, et al.
Journal of Medical Genetics|December 30, 2023
Clinical implications of VUS reclassification in a single-centre series from application of ACMG/AMP classification rules specified for <i>BRCA1/2</i>Giovanni Innella, Simona Ferrari, Sara Miccoli, et al.
Human Mutation|January 4, 2020
Differences in patient ascertainment affect the use of gene-specified ACMG/AMP phenotype-related variant classification criteria: Evidence for TP53Cristina Fortuno, Tina Pesaran, Jill Dolinsky, et al.
Cancer Genetics|July 13, 2019
p53 major hotspot variants are associated with poorer prognostic features in hereditary cancer patientsCristina Fortuno, Tina Pesaran, Jill Dolinsky, et al.
Human Mutation|May 19, 2018
Improved, ACMG-compliant, in silico prediction of pathogenicity for missense substitutions encoded by TP53 variantsCristina Fortuno, Paul A James, Erin L Young, et al.
Pageof 4