Associated Papers
High-throughput evaluation of genetic variants with prime editing sensor libraries.
Gould SI et al.
Nature Biotechnology, 2025
Using multiplexed functional data to reduce variant classification inequities in underrepresented populations.
Dawood M et al.
Genome Medicine, 2024
Scalable approaches for generating, validating and incorporating data from high-throughput functional assays to improve clinical variant classification.
Padigepati SR et al.
Human Genetics, 2024
Mutational Landscape of Patients Referred for Elevated Hemoglobin Level.
Bhai P et al.
Current Oncology (toronto, Ont.), 2022
TP53_PROF: a machine learning model to predict impact of missense mutations in TP53.
Ben-Cohen G et al.
Briefings in Bioinformatics, 2022
Analysis of single-nucleotide polymorphisms in genes associated with triple-negative breast cancer.
G V et al.
Frontiers in Genetics, 2022
Pathogenic genetic variants from highly connected cancer susceptibility genes confer the loss of structural stability.
Reza MN et al.
Scientific Reports, 2021
Analysis and Interpretation of the Impact of Missense Variants in Cancer.
Petrosino M et al.
International Journal of Molecular Sciences, 2021
Identification and functional characterization of new missense SNPs in the coding region of the TP53 gene.
Doffe F et al.
Cell Death and Differentiation, 2021
Comprehensive Study of Germline Mutations and Double-Hit Events in Esophageal Squamous Cell Cancer.
Zeng B et al.
Frontiers in Oncology, 2021
The tetramerization domain of the tree shrew p53 protein displays unique thermostability despite sharing high sequence identity with the human p53 protein.
Nakagawa N et al.
Biochemical and Biophysical Research Communications, 2020
Variable population prevalence estimates of germline TP53 variants: A gnomAD-based analysis.
de Andrade KC et al.
Human Mutation, 2019
Ampulla of Vater Carcinoma: Sequencing Analysis Identifies TP53 Status as a Novel Independent Prognostic Factor and Potentially Actionable ERBB, PI3K, and WNT Pathways Gene Mutations.
Mafficini A et al.
Annals of Surgery, 2018
DNA profiling of tumor buds in colorectal cancer indicates that they have the same mutation profile as the tumor from which they derive.
Centeno I et al.
Virchows Archiv : an International Journal of Pathology, 2017
Structure-Based Analysis Reveals Cancer Missense Mutations Target Protein Interaction Interfaces.
Engin HB et al.
Plos One, 2016
TP53 mutations in human cancer: database reassessment and prospects for the next decade.
Leroy B et al.
Human Mutation, 2014
Potentially functional SNPs (pfSNPs) as novel genomic predictors of 5-FU response in metastatic colorectal cancer patients.
Wang J et al.
Plos One, 2014
Cancer-associated p53 tetramerization domain mutants: quantitative analysis reveals a low threshold for tumor suppressor inactivation.
Kamada R et al.
The Journal of Biological Chemistry, 2011
Evaluation of transcriptional activity of p53 in individual living mammalian cells.
Imagawa T et al.
Analytical Biochemistry, 2009
Characterization of p53 mutants identified in human tumors with a missense mutation in the tetramerization domain.
Rollenhagen C et al.
International Journal of Cancer, 1998