Mahdi Sarmady, PhD

Assistant Professor of Clinical Pathology and Laboratory Medicine
University of Pennsylvania Perelman School of Medicine

Contact Information3615 Civic Center Blvd
Abramson Pediatrics Research Center
Room 710A

Philadelphia, PA, 19104
Office: 267-426-1373


BSc (Software Engineering), University of Tehran, 2005
MSc (Software Engineering), University of Tehran, 2007
PhD (Bioinformatics), Drexel University, 2010

Specialty Certification

Postgraduate Training

Awards and Honors

Dean Award
IEEE University of Tehran Student Branch, 2006
Calhoun Fellowship
Drexel University, 2007-2010

Memberships and Professional Organizations

Institute of Electrical and Electronics Engineers (IEEE), 2007 - 2010
American Society of Human Genetics (ASHG), 2013 - Present
Association for Molecular Pathology (AMP), 2014 - Present

Web Links

Selected Publications

Transcriptome analysis of IL-10-stimulated (M2c) macrophages by next-generation sequencing

Lurier, EB, Dalton, D, Dampier, W, Raman, P, Nassiri, S, Ferraro, NM, Rajagopalan, R, Sarmady, M, Spiller, KL, Immunobiology, 2017

Role of IL10-stimulated "M2c" macrophages in early stages of wound healing.

Lurier, EB, Dalton, D, Dampier, W, Ferraro, N, Nassiri, S, Raman, P, Rajagopalan, R, Sarmady, M, Spiller, KL, Tissue Engineering 22(1): S27-S28, 2016

Evolution of a clinical exome sequencing bioinformatics pipeline in pediatrics: improvements, validation, challenges

Wu, C, Cao, K, Jayaraman, P, Conlin, LK, Luo, M, Duhk, MC, Yu, Z, Spinner, NB, Santani, AB, Abou Tayoun, AN, Krock, BL, Sarmady, M, Journal of Molecular Diagnostics 18(6): 993, 2016

Comprehensive genomic profiling of childhood cancers using targeted next-generation sequencing

Chang, F, Lin, F, Zhao, X, Thiess, M, Cao, K, Akgumus, GT, Sarmady, M, Li, MM, Journal of Molecular Diagnostics 18(6): 1018, 2016

Using large sequencing data sets to refine intragenic disease regions and prioritize clinical variant interpretation.

Amr, S, Turki, S, Lebo, M, Sarmady, M, Rehm H, Abou, Tayoun AN, Genetics in Medicine : Official Journal of the American College of Medical Genetics, 2016, PMID:27657688

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Assessing copy number variants involving ACMGG secondary finding genes identified by routine chromosomal SNP array in a clinical pediatric population

Fan, JB, Mulchandani, S, Dulik, M, Chen, JY, Gleason, A, Jayaraman, P, Sarmady, M, Zackai, E, Luo, MJ, Spinner, NB, Conlin, L, Cancer Genetics 209(5): 230, 2016

Exome sequencing analysis reveals variants in primary immunodeficiency genes in patients with very early onset inflammatory bowel disease

Kelsen, JR, Dawany, N, Moran, CJ, Petersen, BS, Sarmady, M, Sasson, A, Pauly-Hubbard, H, Martinez, A, Maurer, K, Soong, J, Rappaport, E, Franke, A, Keller, A, Winter, HS, Mamula, P, Piccoli, D, Artis, D, Sonnenberg, GF, Daly, M, Sullivan, KE, Baldassano, RN, Devoto, M, Gastroenterology 149(6): 1415-1424, 2015

Exome sequencing expands the mechanism of SOX5-associated intellectual disability: A case presentation with review of sox-related disorders.

Nesbitt A, Bhoj E, Gibson K, Denenberg E, Sarmady M, Cao K, Tischler T, Dubbs H, Zackai E, Santani A, American Journal of Medical Genetics. Part A 167A(11): 2548-54, 2015, PMID:26111154

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Efficient interpretation of clinical exomes using a network-based approach

Wu, C, Cao, K, Jayaraman, P, Deardorff, MA, Krantz, ID, Spinner, NB, Santani, AB, Sarmady, M, Journal of Molecular Diagnostics 17(6): 798-799, 2015

Random walk on ontology for rare disorder diagnosis

Wu, C, Deardorff, MA, Sarmady, M, American Society of Human Genetics (ASHG) Conference 2015, 2015

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