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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, J. J., Santi, M., Pollock, A. N., Harding, B. N., Rorke-Adams, L. B., Tooke, L. S., and Biegel, J. A. : Chromosome band 7q34 deletions resulting in KIAA1549-BRAF and FAM131B-BRAF fusions in pediatric low grade gliomas. Brain Pathology. doi: 10.1111/bpa.12167. [Epub ahead of print] July 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: Congenital titinopathies:an expanding spectrum. 13th International Congress of Neuromuscular Diseases ICNMD Nice, June 2014. June 2014.

Nabavizadeh SA, Santi M, Belasco JB and Zimmerman RA. : Primary malignant optic nerve sheath meningioma in a child with restricted diffusion on MRI. Journal of Neuro-Ophthalmology. 34(2): 173-176, June 2014.

Bosse KR, Shukula A, Pawel B, Chikwava KR, Santi-Vicini M, Tooke L, Castagna K, Biegel JA and Bagatell R.: Malignant rhabdoid tumor of the bladder in a 14 year-old male with a germline 22q11.2 deletion. Cancer Genetics. Cancer Genet. 2014 May 21. pii: S2210-7762(14)00093-3. doi: 10.1016/j.cancergen.2014.05.007. [Epub ahead of print] (eds.). May 2014.

Roth JJ, Santi M, Rorke-Adams LB, Harding BN, Busse TM, Tooke LS, and Biegel JA.: Diagnostic Application of High Resolution SNP Arrays for Children with Brain Tumors. Cancer Genetics 207(4): 11-23, April 2014.

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. : Exome 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.

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. AANP, 90th annual meeting, June 2014 Portland OR. 2014.

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.

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Last updated: 09/25/2014
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