Stephen R Master, MD, PhD

faculty photo
Associate Professor of Pathology and Laboratory Medicine at the Children's Hospital of Philadelphia
Attending Physician, Children's Hospital of Philadelphia
Member, Institute for Biomedical Informatics, Perelman School of Medicine, University of Pennsylvania
Chief, Division of Laboratory Medicine, Children's Hospital of Philadelphia
Director, Michael Palmieri Laboratory for Metabolic and Advanced Diagnostics, Children's Hospital of Philadelphia
Department: Pathology and Laboratory Medicine

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

Selected Publications

Wongkittichote P, Ganetzky R, Demczko MM, Hong X, He M, Master SR: Low Plasma Citrulline Guiding the Diagnosis of a Mitochondrial Disorder. Clin Chem 2023 in press.

Wongkittichote P, Hong X, Master SR, Kaur S, Cuddapah S, He M: 2-Methylglutaconic Acid as a Biomarker in Routine Urine Organic Acids Leading to the Diagnosis of Glutaric Acidemia type I in a Low Excretor. Mol Genet Metab 138(4): 107549, Apr 2023.

Alharbi H, Hong X, Ritter A, Ahrens-Nicklas R, Master SR, He M: Fine-Tuning 3-Methylglutaconic Aciduria Cutoffs for a Patient with Infantile-Onset Barth Syndrome. Clin Chem 68(2): 365-7, Feb 2022.

Alharbi H, Bennett MJ, He M, Master SR, Ganetzky RD: Normal Biomarkers in an Acute Presentation in a Known Case of Medium-Chain Acyl-Coenzyme A Dehydrogenase Deficiency. Clin Chem 67(12): 1735-37, November 2021.

Galinski B, Luxemburg M, Landesman Y, Pawel B, Johnson KJ, Master SR, Freeman K, Loeb D, Hebert JM, Weiser DA: XPO1 inhibition with selinexor synergies with proteasome inhibition in neuroblastoma by targeting nuclear export of IkB. Transl Oncol 14(8): 101114, Aug 2021.

Master SR, Neide B, Kollu S, Mulchandani S, Harris RM, Obstfeld AE: Facilitating Test Status Information Communication in the Time of COVID-19. Acad Pathol 8, April 2021 Notes: doi: 10.1177/2374289521100682.

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: Mitochondrial dysfunction in inflammatory bowel disease alters intestinal epithelial metabolism of hepatic acylcarnitines. J Clin Invest 131(1): e133371, Jan 2021.

Gordon SM, Srinivasan L, Taylor DM, Master SR, Tremoglie MA, Hankeova A, Flannery DD, Abassi S, Fitzgerald JC, Harris MC: Derivation of a metabolic signature associated with bacterial meningitis in infants. Pediatric Res 88(2): 184-191, Aug 2020 Notes: doi: 10.1038/s41390-020-0816-7.

Master CL, Master SR, Wiebe DJ, Storey EP, Lockyer JE, Podolak OE, Grady MF: Vision and Vestibular System Dysfunction Predicts Prolonged Concussion Recovery in Children. Clin J Sport Med Oct 2017.

Niazi MKK, Chung JH, Heaton-Johnson KJ, Martinez D, Castellanos R, Irwin MS, Master SR, Pawel BR, Gurcan MN, Weiser DA: Advancing clinicopathologic diagnosis of high-risk neuroblastoma using computerized image analysis and proteomic profiling. Pediatr Dev Pathol Jul, 2017 Notes: Epub ahead of print.

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Last updated: 05/31/2023
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