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Mariangela Sabatella

Mariangela Sabatella
Mariangela Sabatella
Initiation and development of cancer in children and young adults with cancer predisposition

The aim of my work is to identify and validate germline mutations that cause urinary bladder cancer predisposition by evaluating whole genome sequencing data of patient-parents trios. In addition, I investigate DNA mutation processes involved in tumor development in children with increased risk for cancer, including those with DNA repair syndromes.
  • Optical genome mapping identifies a germline retrotransposon insertion in SMARCB1 in two siblings with atypical teratoid rhabdoid tumors

    • okt. 2021
    • Mariangela, Sabatella, et al
    • The Journal of pathology
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