Stephen R. Master, MD, PhD

Associate Professor of Pathology and Laboratory Medicine at the Children's Hospital of Philadelphia
University of Pennsylvania Perelman School of Medicine

Contact InformationChildren's Hospital of Philadelphia
34th and Civic Center Blvd., Room 5145
Philadelphia, PA 19104-4399
Office: 267-426-7280


Clinical Expertise

My clinical work is based within the Division of Laboratory Medicine at the Children's Hospital of Philadelphia. I serve as Director of Central Lab Services and work within the Metabolic Laboratory. Additionally, I serve as a faculty member within the Division of Pathology Informatics.


A.B. (Molecular Biology), Princeton University , 1990
Ph.D. (Cell and Molecular Biology), University of Pennsylvania School of Medicine, 2001
M.D. (Medicine), University of Pennsylvania School of Medicine, 2002
M.S.T.R. (Translational Research), University of Pennsylvania, 2011

Specialty Certification

American Board of Pathology (Clinical Pathology), 2004
American Board of Pathology (Clinical Informatics), 2017

Postgraduate Training

Resident in Clinical Pathology, Hospital of the University of Pennsylvania, Philadelphia, 2002-2004

Awards and Honors

NSF Summer Undergraduate Research Fellowship, 1989-1990
Cum laude in Molecular Biology, Princeton University, 1990
Dean's Letter of Commendation, SUNY at Buffalo School of Medicine, 1991
DOD Breast Cancer Predoctoral Training Award, 1996-1999
Endocrine Society Medical Student Achievement Award, University of Pennsylvania School of Medicine, 2001
Endocrine Society Travel Award, 2001
Best Scientific Session, Microarray and Tissue Array Analysis, APIII 2003, 2003
William Pepper Fellowship Award in Laboratory Medicine, Hospital of the University of Pennsylvania, 2004
2012 Outstanding Speaker Award, American Association for Clinical Chemistry, 2013
American Association for Clinical Chemistry 2013 Division Achievement Award for "Advancing the Profession", 2013
Weill Cornell Healthcare Leadership Fellowship Award
Weill Cornell Medical Center, New York Presbyterian, 2015-2016
2015 Outstanding Speaker Award
American Association for Clinical Chemistry, 2016
Trailblazers of the Lab: The Power List 2019, (, 2019
Norman P. Kubasik Lectureship Award, AACC NY Upstate Local Section, 2023
Past President's Award, American Association for Clinical Chemistry, 2023

Memberships and Professional Organizations

American Association for the Advancement of Science, 2000 - Present
American Association for Clinical Chemistry, 2004 - Present
International Society for Computational Biology, 2004 - 2005
American Society for Mass Spectrometry, 2005 - Present
Human Proteome Organization, 2005 - 2009
American Association for Clinical Chemistry, Philadelphia Section, 2005 - Present
American Society for Biochemistry and Molecular Biology, 2005 - 2006
College of American Pathologists, 2005 - Present
American Society for Investigative Pathology, 2006 - 2007
Academy of Clinical Laboratory Physicians and Scientists, 2006 - Present
National Institutes of Health (NCRR), 2009 - 2009
National Institutes of Health (NIAID), 2010 - 2010
International Consortium for Harmonization of Clinical Laboratory Results (ICHCLR), 2013 - Present
National Academy of Clinical Biochemistry, 2014 - Present
Society for the Study of Inborn Errors of Metabolism, 2018 - Present

Web Links

Selected Publications

Development and validation of a multiplexed LC-MS/MS ketone body assay for clinical diagnostics

Kemperman, RHJ, Ganetzky RD, Master SR, J Mass Spectrom Adv Clin Lab 31(): 49-58, 2024

Biochemical Characterization of Patients with Dihydrolipoamide Dehydrogenase Deficiency

Wongkittichote P, Cuddapah SR, Master SR, Grange DK, Dietzen D, Roper SM, Ganetzky R, JIMD Rep 64(5): 367-74, 2023, PMID:37701333

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Low Plasma Citrulline Guiding the Diagnosis of a Mitochondrial Disorder

Wongkittichote P, Ganetzky R, Demczko MM, Hong X, He M, Master SR, Clin Chem 69(6): 661-4, 2023, PMID:37258485

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2-Methylglutaconic Acid as a Biomarker in Routine Urine Organic Acids Leading to the Diagnosis of Glutaric Acidemia type I in a Low Excretor

Wongkittichote P, Hong X, Master SR, Kaur S, Cuddapah S, He M, Mol Genet Metab 138(4): 107549, 2023, PMID:36913764

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Enterobacteriaceae Growth Promotion by Intestinal Acylcarnitines, a Biomarker of Dysbiosis in Inflammatory Bowel Disease

Lemons JMS, Conrad M, Tanes C, Chen J, Friedman ES, Roggiani M, Curry D, Chau L, Hecht AL, Harling L, Vales J, Kachelries KE, Baldassano RN, Goulian M, Bittinger K, Master SR, Liu L, Wu GD., Cell Mol Gastroenterol Hepatol, 2023

Fine-Tuning 3-Methylglutaconic Aciduria Cutoffs for a Patient with Infantile-Onset Barth Syndrome

Alharbi H, Hong X, Ritter A, Ahrens-Nicklas R, Master SR, He M, Clin Chem 68(2): 365-7, 2022, PMID:35104856

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Normal Biomarkers in an Acute Presentation in a Known Case of Medium-Chain Acyl-Coenzyme A Dehydrogenase Deficiency

Alharbi H, Bennett MJ, He M, Master SR, Ganetzky RD, Clin Chem 67(12): 1735-37, 2021, PMID:34850845

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XPO1 inhibition with selinexor synergies with proteasome inhibition in neuroblastoma by targeting nuclear export of IkB

Galinski B, Luxemburg M, Landesman Y, Pawel B, Johnson KJ, Master SR, Freeman K, Loeb D, Hebert JM, Weiser DA, Transl Oncol 14(8): 101114, 2021, PMID:33975179

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Facilitating Test Status Information Communication in the Time of COVID-19

Master SR, Neide B, Kollu S, Mulchandani S, Harris RM, Obstfeld AE, Acad Pathol 8(): , 2021, PMID:33884294

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Mitochondrial dysfunction in inflammatory bowel disease alters intestinal epithelial metabolism of hepatic acylcarnitines

Smith SA, Ogawa SA, Chau L, Whelan KA, Hamilton KE, Chen J, Tan L, Chen EZ, Keilbaugh S, Fogt F, Bewtra M, Braun J, Xavier RJ, Clish CB, Slaff B, Weljie AM, Bushman FD, Lewis JD, Li H, Master SR, Bennett MJ, Nakagawa H, Wu GD, J Clin Invest 131(1): e133371, 2021