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Nova · Professor Researcher · re-ranking top 20…
Mariarita Santi

Mariarita Santi

Verified

University of Pennsylvania · Rehabilitation Medicine

Active 2001–2024

h-index48
Citations9.5k
Papers258135 last 5y
Funding
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Research topics

  • Biology
  • Medicine
  • Pathology
  • Oncology
  • Anatomy
  • Bioinformatics
  • Genetics
  • Computational biology

Selected publications

  • Recurrent ACVR1 mutations in posterior fossa ependymoma

    Acta Neuropathologica · 2022 · 18 citations

    • Medicine
    • Biology
    • Pathology
  • The children's brain tumor network (CBTN) - Accelerating research in pediatric central nervous system tumors through collaboration and open science

    Neoplasia · 2022 · 86 citations

    • Medicine
    • Bioinformatics
    • Oncology

    Pediatric brain tumors are the leading cause of cancer-related death in children in the United States and contribute a disproportionate number of potential years of life lost compared to adult cancers. Moreover, survivors frequently suffer long-term side effects, including secondary cancers. The Children's Brain Tumor Network (CBTN) is a multi-institutional international clinical research consortium created to advance therapeutic development through the collection and rapid distribution of biospecimens and data via open-science research platforms for real-time access and use by the global research community. The CBTN's 32 member institutions utilize a shared regulatory governance architecture at the Children's Hospital of Philadelphia to accelerate and maximize the use of biospecimens and data. As of August 2022, CBTN has enrolled over 4700 subjects, over 1500 parents, and collected over 65,000 biospecimen aliquots for research. Additionally, over 80 preclinical models have been developed from collected tumors. Multi-omic data for over 1000 tumors and germline material are currently available with data generation for > 5000 samples underway. To our knowledge, CBTN provides the largest open-access pediatric brain tumor multi-omic dataset annotated with longitudinal clinical and outcome data, imaging, associated biospecimens, child-parent genomic pedigrees, and in vivo and in vitro preclinical models. Empowered by NIH-supported platforms such as the Kids First Data Resource and the Childhood Cancer Data Initiative, the CBTN continues to expand the resources needed for scientists to accelerate translational impact for improved outcomes and quality of life for children with brain and spinal cord tumors.

  • Integrated Proteogenomic Characterization across Major Histological Types of Pediatric Brain Cancer

    Cell · 2020 · 337 citations

    • Biology
    • Computational biology
    • Genetics

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