Stephen R Master, MD, PhD
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
Director, Michael Palmieri Laboratory for Metabolic and Advanced Diagnostics, Children's Hospital of Philadelphia
Director, CHOP Small Molecule and Metabolite Core facility, Children's Hospital of Philadelphia
Director, Center for Diagnostic Innovation, Children's Hospital of Philadelphia
Vice-Chair for Innovation, Department of Pathology and Laboratory Medicine, Children's Hospital of Philadelphia
Department: Pathology and Laboratory Medicine
Contact information
Children's Hospital of Philadelphia
34th and Civic Center Blvd., Room 5144
Philadelphia, PA 19104-4399
34th and Civic Center Blvd., Room 5144
Philadelphia, PA 19104-4399
Office: 267-426-7280
Education:
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.
Permanent linkA.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.
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
Graham BV, Master SR, Obstfeld AE, Wilson RB: A Multianalyte Machine Learning Model to Detect Wrong Blood in Complete Blood Count Tube Errors in a Pediatric Setting. Clin Chem 71(3): 418-427, Mar 2025 Notes: This is the first pediatric-specific algorithm for detecting sample misidentification ("Wrong Blood in Tube"), and the first with computational validation that mimics realistic levels of prevalence.Pu J, Yang X, Fillmore TL, Gritsenko MA, Kelly SS, Swensen AC, Shi T, Master SR, DeLany JP, Goodpaster BH, Qian WJ, Qu J: A Multiplex Assay of Leptin, Resistin, and Adiponectin by Immunoaffinity Enrichment and Targeted Mass Spectrometry. J Mass Spectrom Adv Clin Lab 36: 11-18, Feb 2025.
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 Notes: This manuscript describes the only assay for ketone body ratio assessment (relevant to mitochondrial diagnostics and other conditions) that is clinically available in the US.
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 17(1): 131-148, 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.
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.