PEOPLE

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

Education

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

ExomeSlicer: a resource for the development and validation of exome-based clinical panels

Rojeen Niazi, Michael A Gonzalez, Jorune Balciuniene, Perry Evans, Mahdi Sarmady, Ahmad N Abou Tayoun, BioRxiv, 2018

In-Silico Framework for Detection and Evaluation of Contamination in Clinical Diagnostic Next-Generation Sequencing

M Sarmady, MA Gonzalez, K Cao, B Krock, Journal of Molecular Diagnostics 19(6): 996-997, 2017

Novel findings with reassessment of exome data: implications for validation testing and interpretation of genomic data

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, Genetics in Medicine 2017.153(): , 2017

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

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

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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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

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