Area of research
Oncology · Genetics
Research interest
Research interests include Medicine, Li–Fraumeni syndrome, Cancer, Germline, Biology, and Germline mutation.
Update on Cancer Screening Recommendations for Individuals with Li–Fraumeni Syndrome
Updated Recommendations for Pediatric Surveillance in Hereditary Endocrine Neoplasia Syndromes: Multiple Endocrine Neoplasias, Hyperparathyroidism–Jaw Tumor Syndrome, and Carney Complex
Patterns of hypermutation shape tumorigenesis and immunotherapy response in mismatch-repair-deficient glioma
Update on Surveillance for Wilms Tumor and Hepatoblastoma in Beckwith–Wiedemann Syndrome and Other Predisposition Syndromes
Update on Surveillance Guidelines in Emerging Wilms Tumor Predisposition Syndromes
Germline TP53 mutations undergo copy number gain years prior to tumor diagnosis
Combined Immunotherapy Improves Outcome for Replication-Repair-Deficient (RRD) High-Grade Glioma Failing Anti–PD-1 Monotherapy: A Report from the International RRD Consortium
Multiple Germline Events Contribute to Cancer Development in Patients with Li-Fraumeni Syndrome
Genomic predictors of response to PD-1 inhibition in children with germline DNA replication repair deficiency
DNA Polymerase and Mismatch Repair Exert Distinct Microsatellite Instability Signatures in Normal and Malignant Human Cells
Cost‐effectiveness of early cancer surveillance for patients with Li–Fraumeni syndrome
Gliomas in the context of Li-Fraumeni syndrome: An international cohort.
Cancer Screening Recommendations for Individuals with Li-Fraumeni Syndrome
Von Hippel–Lindau and Hereditary Pheochromocytoma/Paraganglioma Syndromes: Clinical Features, Genetics, and Surveillance Recommendations in Childhood
Baseline Surveillance in Li-Fraumeni Syndrome Using Whole-Body Magnetic Resonance Imaging
Recommendations for Cancer Surveillance in Individuals with RASopathies and Other Rare Genetic Conditions with Increased Cancer Risk
Multiple Endocrine Neoplasia and Hyperparathyroid-Jaw Tumor Syndromes: Clinical Features, Genetics, and Surveillance Recommendations in Childhood
Biochemical and imaging surveillance in germline TP53 mutation carriers with Li-Fraumeni syndrome: 11 year follow-up of a prospective observational study
Molecular Characterization of Choroid Plexus Tumors Reveals Novel Clinically Relevant Subgroups
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