Stephen R Master, MD, PhD

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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
Director, Center for Diagnostic Innovation, 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

Kemperman, RHJ, Ganetzky RD, Master SR: Development and validation of a multiplexed LC-MS/MS ketone body assay for clinical diagnostics. J Mass Spectrom Adv Clin Lab 31: 49-58, Jan 2024.

Wongkittichote P, Cuddapah SR, Master SR, Grange DK, Dietzen D, Roper SM, Ganetzky R: Biochemical Characterization of Patients with Dihydrolipoamide Dehydrogenase Deficiency. JIMD Rep 64(5): 367-74, Aug 2023.

Wongkittichote P, Ganetzky R, Demczko MM, Hong X, He M, Master SR: Low Plasma Citrulline Guiding the Diagnosis of a Mitochondrial Disorder. Clin Chem 69(6): 661-4, Jun 2023.

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.

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.: Enterobacteriaceae Growth Promotion by Intestinal Acylcarnitines, a Biomarker of Dysbiosis in Inflammatory Bowel Disease. Cell Mol Gastroenterol Hepatol Page: S2352-345X(23)00167-4, Online ahead of print, 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.

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Last updated: 03/29/2024
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