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Mariarita Santi-Vicini, M.D.

Mariarita Santi-Vicini, M.D.

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Associate Professor of Pathology and Laboratory Medicine at the Children's Hospital of Philadelphia
Department: Pathology and Laboratory Medicine

Contact information
Children's Hospital of Philadelphia
324 South 34th Street
Room 5NW26
Philadelphia, PA 19104
Office: 215-590-3184
Fax: 215- 590-1736
Education:
B.S.
Classic Lyceum Reggio Emilia, Italy, 1974.
M.D.
Modena University Medical School, Modena, Italy, 1982.
Ph.D. (Pharmacology)
Modena University , 1988.
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Description of Clinical Expertise

Pediatric and Adult Brain Tumors, Pediatric and Adult Muscle Disease, Tumor Banks

Selected Publications

Roth JJ Santi M, Rorke-Adams LB, Harding BN, Tooke LS, Avrum NP and Biegel JA.: The identification of BRAF fusion proteins resulting from 7q34 deletions in pediatric low grade glioma. CHOP Research poster day. FEB 2014.

Chauveau C, Bonnemann CG, Julien C, Kho AL, Marks H, Talim B, Maury P, Arne-Bes MC, Uro-Coste E, Alexandrovich A, Vihola A, Schäfer S, Kaufmann B, Medne L, Hübner N, Foley AR, Santi M, Udd B, Topaloglu H, Moore SA, Gotthardt M, Samuels ME, Gautel M, and Ferreiro A.: Recessive TTN truncating mutations define novel forms of core myopathy with heart disease. Human Molecular Genetics 15(23 (4)): 980-91, Feb 2014 Notes: Epub 2013 Oct 8.

Brastianos PK, Taylor-Weiner A, Manley PE, Jones RT, Dias-Santagata D, Thorner AR, Rodriguez FG, Bernardo LA, Sunkavalli A, Shillingford N, Calicchio ML, Lidov HG, Taha H, Martinez Lage-Alvarez M, Santi M, Storm PB, Lee JYK, Palmer JN, Adappa ND, Scott RM, Laws ER, Jr., Stewart C, Ligon KL, Hoang MP, Paul Van Hummelen P, Hahn WC, Louis DN, Resnick AC, Kieran MW, Getz G, and, Santagata S. : Exom sequencing reveals BRAF mutation in papillary Craniopharyngioma. Nature Genetics (eds.). 46(2): 161-5, Feb 2014 Notes: doi: 10.1038/ng.2868. Epub 2014 Jan 12.

Phillips JJ, Aranda D, Ellison DW , Judkins AR, Croul SE, Brat DG, Ligon KL, Horbinski Ci, Venneti S, Zadeh G, Santi M, Zhou S, Appin CL, Sioletic S, Sullivan LM, Martinez-Lage M, Robinson AE, MuellerS, Marshall R, Haas-Kogen DA, Molinaro AM and Perry A. : PDGFRA Amplification is Common in Pediatric and Adult High-Grade Astrocytomas and Identifies a Poor Prognostic Group in IDH1 Mutant Glioblastoma. Brain Pathology Brain Pathol. doi: 10.1111/bpa.12043. Epub 2013 Mar 18. 23 (5): 565-73, Sept 2013.

Venneti S, Garimella MT, Sullivan LM, Martinez D, Huse JT, Heguy A, Santi M, Thompson CB and Judkins AR. : Evaluation of Histone 3 Lysine 27 Trimethylation (H3K27me3) and Enhancer of Zest 2 (EZH2) in Pediatric Glial and Glioneuronal Tumors Shows Decreased H3K27me3 in H3F3A K27M Mutant Glioblastomas. Brain Pathology Brain Pathol. Epub 2013 Mar 6. (23 (5)), 558-64, Sept 2013 Notes: DOI: 10.1111/bpa.12042

Chan ES, Pawel BR, Corao DA, Russo P, Santi M, Sullivan LM. : Glypican-3 Expression in a Large Cohort of Pediatric Tumors: A Potential Positive Marker for Malignant Rhabdoid Tumors. Pediatr Dev Pathol. doi: 10.2350/12-06-1216-OA.1. 16(4): 272-7, Jul-Aug 2013 Notes: doi: 10.2350/12-06-1216-OA.1. Epub 2013 Mar 26. PMID: 23530909

Abedalthagafi M, Phillips J, Kim G, Marshall R, Mueller S, Haas-Kogan D, Croul S, Santi M, Cheng J, Zhou Z, Sullivan L, Martinez-Lage M, Judkins AR and Perry A: The alternative lengthening of telomere phenotype is significantly associated with loss of ATRX expression in high-grade pediatric and adult astrocytomas: A multiinstitutional study of 214 astrocytomas. Modern Pathology Mod Pathol. doi: 10.1038/modpathol.2013.90. [Epub ahead of print] June 2013.

Santi M. and Rushing EJ: Neuropathology. Tumors of pediatric Nervous System, Second Edition. Keating RF, Goodrich JT and Packer RJ (eds.). Thieme Medical JUN 2013 Notes: ISBN: 9781604065466

Santi M, Roth JJ, Rorke-Adams LB, Harding BN, Tooke LS, Martinez-Lage M and Biegel JA.: Diagnostic Application of High Resolution SNP Arrays for Children with Brain Tumors (Poster #70). 89th annual meeting of AANP, Charlestown SC. JUN 2013.

Venneti S, Garimella MT, Sullivan LM, Martinez D, Huse JT, Heguy A , Santi M, Thompson CB and. Judkins AR.: Evaluation of H3K27me3 and EZH2 in pediatric glial and glioneuronal tumors shows decreased H3K27me3 in H3F3A K27M mutant GBM. 89th AANP meeting, Charlestown SC. JUN 2013.

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Last updated: 03/11/2014
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