Associated Papers
Genetic Investigation and Transcriptome Profiling in a Nuclear Family With Peutz-Jeghers Syndrome.
Khan TN et al.
Human Mutation, 2025
A method to comprehensively identify germline SNVs, INDELs and CNVs from whole exome sequencing data of BRCA1/2 negative breast cancer patients.
Bianchi A et al.
Nar Genomics and Bioinformatics, 2024
Whole Exome Sequencing Identifies Candidate Genes Associated with Hereditary Predisposition to Uveal Melanoma.
Abdel-Rahman MH et al.
Ophthalmology, 2020
Truncating mutations of TP53AIP1 gene predispose to cutaneous melanoma.
Benfodda M et al.
Genes, Chromosomes & Cancer, 2018
Truncating variants in p53AIP1 disrupting DNA damage-induced apoptosis are associated with prostate cancer risk.
Wang X et al.
Cancer Research, 2006
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