Biochemical and imaging surveillance in germline TP53 mutation carriers with Li-Fraumeni syndrome: 11 year follow-up of a prospective observational study

Anita Villani, Ari Shore, Jonathan D. Wasserman, +12

The Lancet Oncology

Li-fraumeni SyndromeGenetic DisorderGeneticsGenetic EpidemiologyProspective Observational Study +3

Biochemical and imaging surveillance in germline TP53 mutation carriers with Li-Fraumeni syndrome: a prospective observational study

Anita Villani, Uri Tabori, Joshua D. Schiffman, +6

The Lancet Oncology

Li-fraumeni SyndromeGenetic DisorderGeneticsProspective Observational StudyPathology +2

Genomic predictors of response to PD-1 inhibition in children with germline DNA replication repair deficiency

Anirban Das, Sumedha Sudhaman, Daniel A. Morgenstern, +80

Nature Medicine

The clinical utility of integrative genomics in childhood cancer extends beyond targetable mutations

Anita Villani, Scott Davidson, Nisha Kanwar, +48

Nature Cancer

EngineeringSickkids Cancer SequencingPathologyIntegrative GenomicsTumor Heterogeneity +14

Molecular Characterization of Choroid Plexus Tumors Reveals Novel Clinically Relevant Subgroups

Diana M. Merino, Adam Shlien, Anita Villani, +24

Clinical Cancer Research

Survival Benefit for Individuals With Constitutional Mismatch Repair Deficiency Undergoing Surveillance

Carol Durno, Ayse B. Ercan, Vanessa Bianchi, +103

Journal of Clinical Oncology

DNA Polymerase and Mismatch Repair Exert Distinct Microsatellite Instability Signatures in Normal and Malignant Human Cells

Jiil Chung, Yosef E. Maruvka, Sumedha Sudhaman, +52

Cancer Discovery

Performance of the McGill Interactive Pediatric OncoGenetic Guidelines for Identifying Cancer Predisposition Syndromes

Catherine Goudie, Leora Witkowski, Noelle Cullinan, +58

JAMA Oncology

Clinical and biological landscape of constitutional mismatch-repair deficiency syndrome: an International Replication Repair Deficiency Consortium cohort study

Ayse B. Ercan, Melyssa Aronson, Nicholas R. Fernandez, +125

The Lancet Oncology

Family MedicineBiological LandscapeGenetic DisorderClinical GeneticsMedicine +3

DICER1 syndrome: Approach to testing and management at a large pediatric tertiary care center

Kalene van Engelen, Anita Villani, Jonathan D. Wasserman, +9

Pediatric Blood & Cancer