Mahdi Sarmady, PhD

faculty photo
Assistant Professor of Clinical Pathology and Laboratory Medicine
Department: Pathology and Laboratory Medicine

Contact information
3615 Civic Center Blvd
Abramson Pediatrics Research Center
Room 710A
Philadelphia, PA 19104
Office: 267-426-1373
BSc (Computer Engineering)
University of Tehran, 2005.
MSc (Software Engineering)
University of Tehran, 2007.
PhD (Bioinformatics)
Drexel University, 2010.
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Selected Publications

Rojeen Niazi, Michael A Gonzalez, Jorune Balciuniene, Perry Evans, Mahdi Sarmady, Ahmad N Abou Tayoun: ExomeSlicer: a resource for the development and validation of exome-based clinical panels. BioRxiv(248906), Jan 2018.

M Sarmady, MA Gonzalez, K Cao, B Krock: In-Silico Framework for Detection and Evaluation of Contamination in Clinical Diagnostic Next-Generation Sequencing. Journal of Molecular Diagnostics. Elsevier, 19(6): 996-997, Nov 2017.

Kristin McDonald Gibson PhD, Addie Nesbitt PhD, Kajia Cao PhD, Zhenming Yu PhD, Elizabeth Denenberg MS, LCGC, Elizabeth DeChene MS, CGC, Qiaoning Guan PhD, Elizabeth Bhoj MD, PhD, Xiangdong Zhou PhD, Bo Zhang BS, Chao Wu PhD, Holly Dubbs MS, CGC, Alisha Wilkens MS, LCGC, Livija Medne MS, LCGC, Emma Bedoukian MS, LCGC, Peter S White PhD, Jeffrey Pennington BS, Minjie Lou PhD, Laura Conlin PhD, Dimitri Monos PhD, Mahdi Sarmady PhD, Eric Marsh MD, PhD, Elaine Zackai MD, Nancy Spinner PhD, Ian Krantz MD, Matt Deardorff MD, PhD & Avni Santani PhD: Novel findings with reassessment of exome data: implications for validation testing and interpretation of genomic data. Genetics in Medicine 2017.153, Oct 2017.

Lurier, EB, Dalton, D, Dampier, W, Raman, P, Nassiri, S, Ferraro, NM, Rajagopalan, R, Sarmady, M, Spiller, KL: Transcriptome analysis of IL-10-stimulated (M2c) macrophages by next-generation sequencing. Immunobiology Feb 2017 Notes: DOI:10.1016/j.imbio.2017.02.006.

Lurier, EB, Dalton, D, Dampier, W, Ferraro, N, Nassiri, S, Raman, P, Rajagopalan, R, Sarmady, M, Spiller, KL: Role of IL10-stimulated "M2c" macrophages in early stages of wound healing. Tissue Engineering 22(1): S27-S28, Dec 2016 Notes: 2016 TERMIS Americas, San Diego CA, Platform presentation.

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: Evolution of a clinical exome sequencing bioinformatics pipeline in pediatrics: improvements, validation, challenges. Journal of Molecular Diagnostics 18(6): 993, Nov 2016 Notes: Association for Molecular Pathology (AMP) 2016 Annual Meeting, Charlotte NC, Platform presentation.

Chang, F, Lin, F, Zhao, X, Thiess, M, Cao, K, Akgumus, GT, Sarmady, M, Li, MM: Comprehensive genomic profiling of childhood cancers using targeted next-generation sequencing. Journal of Molecular Diagnostics 18(6): 1018, Nov 2016 Notes: Association for Molecular Pathology (AMP) 2016 Annual Meeting, Charlotte NC, Poster presentation.

Fan, JB, Mulchandani, S, Dulik, M, Chen, JY, Gleason, A, Jayaraman, P, Sarmady, M, Zackai, E, Luo, MJ, Spinner, NB, Conlin, L: Assessing copy number variants involving ACMGG secondary finding genes identified by routine chromosomal SNP array in a clinical pediatric population. Cancer Genetics 209(5): 230, May 2016 Notes: The 13th ICHG Meeting, Kyoto Japan.

Amr, S, Turki, S, Lebo, M, Sarmady, M, Rehm H, Abou, Tayoun AN: Using large sequencing data sets to refine intragenic disease regions and prioritize clinical variant interpretation. Genetics in Medicine : Official Journal of the American College of Medical Genetics May 2016 Notes: DOI: 10.1038/gim.2016.134.

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: Exome sequencing analysis reveals variants in primary immunodeficiency genes in patients with very early onset inflammatory bowel disease Gastroenterology 149(6): 1415-1424, Nov 2015.

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Last updated: 08/21/2018
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