Area of research
Cancer Research · Genetics
Research interest
Research focused on Germline and Cancer, with related work in Germline mutation, Exome sequencing, Computational biology. Notable publications include 'Li-Fraumeni syndrome: cancer risk assessment and clinical management', 'Frequency of Pathogenic Germline Variants in Cancer-Susceptibility Genes in Patients With Osteosarcoma', and 'Diagnosis of fusion genes using targeted RNA sequencing'.
Nivolumab and Ipilimumab Combination Treatment in Advanced Ovarian and Endometrial Clear Cell Cancers
Nivolumab and Ipilimumab in Advanced Mismatch Repair–Deficient/Microsatellite Instability–High Noncolorectal Cancers
Cancer Risks Associated With <i>TP53</i> Pathogenic Variants: Maximum Likelihood Analysis of Extended Pedigrees for Diagnosis of First Cancers Beyond the Li-Fraumeni Syndrome Spectrum
Heritable defects in telomere and mitotic function selectively predispose to sarcomas
Frequency of Pathogenic Germline Variants in Cancer-Susceptibility Genes in Patients With Osteosarcoma
Diagnosis of fusion genes using targeted RNA sequencing
A quantitative model to predict pathogenicity of missense variants in the <i>TP53</i> gene
Cancer Molecular Screening and Therapeutics (MoST): a framework for multiple, parallel signal‐seeking studies of targeted therapies for rare and neglected cancers
Baseline Surveillance in Li-Fraumeni Syndrome Using Whole-Body Magnetic Resonance Imaging
Recommended Guidelines for Validation, Quality Control, and Reporting of <i>TP53</i> Variants in Clinical Practice
Monogenic and polygenic determinants of sarcoma risk: an international genetic study
Li-Fraumeni syndrome: cancer risk assessment and clinical management