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Silvia Tortorelli, M.D., Ph.D.

  1. Medical Geneticist

地点

  1. Rochester, Minnesota

语言

English
  1. 2004
    ResidentClinical Biochemical Genetics, Programs in Rochester, Mayo School of Graduate Medical Education, Mayo Clinic College of Medicine
  2. 2004
    Fellow - Clinical Biochemical GeneticsMayo Clinic Graduate School of Biomedical Sciences, Mayo Clinic College of Medicine and Science
  3. 2000
    PhD - Research Doctor of Developmental NeurologySchool of Medicine, Universita di Siena
  4. 1996
    FellowDepartment of Pediatric Neurology and Psychiatry, Gaslini Institute, Universita di Genova
  5. 1995
    ResidentDepartment of Pediatric Neurology and Psychiatry, Universita di Genova
  6. 1990
    MDSchool of Medicine, Universita di Genova
  7. 1989
    InternshipDepartment of Pediatric Neurology and Psychiatry, Universita di Genova

Certifications

  1. 2005
    Clinical Biochemical GeneticsAmerican Board of Medical Genetics and Genomics

Awards and honors

  1. 2016
    SSIEM 2016 Annual Symposium Poster AwardAwarding Organization
  2. 2014
    Paper Newborn Screening for X-Linked Adrenoleukodystrophy: A pilot study was among TOP TEN posters presented13th International Child Neurology Congress
  3. 2004
    41st SSIEM Annual Symposium Travel ScholarshipAwarding Organization
  4. 1996
    Augusta Alabastro Award for best dissertation in Pediatric Neurology and PsychiatryAwarding Organization

Professional memberships

  1. 2023
    Abstract Reviewers for 2024 ACMG Annual Clinical Genetics MeetingAmerican College of Medical Genetics and Genomics
  2. 2023 - present
    Consensus Group PanelMPS Delphi panel
  3. 2023 - present
    MemberMN Pompe Consortium
  4. 2022 - 2024
    MemberExternal Expert Panel for North Carolina's MPS II Pilot Study
  5. 2021 - present
    MemberGenomics Education Committee, Mayo Clinic Rochester Committees
  6. 2020 - 2024
    MemberAmerican College of Medical Genetics and Genomics
  7. 2018 - 2019
    Advisory MemberAlnylam Pharmaceutical, Inc.
  8. 2018 - 2021
    MemberClinical and Laboratory Standards Institute
  9. 2017 - 2020
    MemberAmerican College of Medical Genetics and Genomics
  10. 2013 - present
    MemberAmerican College of Medical Genetics and Genomics
  11. 2011 - 2017
    MemberAmerican College of Medical Genetics and Genomics
  12. 2011 - 2012
    MemberInformation Management Planning Committee, Department of Laboratory Medicine and Pathology
  13. 2009 - present
    MemberSociety for the Study of Inborn Errors of Metabolism

Publications