Miao He, PhD

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Locations: Main Campus
Appointments and Referrals: 1-800-TRY-CHOP (1-800-879-2467)

Education and Training


Medical Genetics - Mayo Medical School, Rochester, MN
Clinical Biochemical Genetics - Univeristy of Pittsburgh, Pittsburgh, PA

Additional Training

Fellow, American Board of Medical Genetics

Graduate Degree

PhD in Genetics - University of Leeds, Leeds, West Yorkshire, England

Titles and Academic Titles

Co-Director, Metabolic Disease Laboratory

Assistant Professor of Pathology and Laboratory Medicine, Perelman School of Medicine at the University of Pennsylvania

Departments and Services




Ng BG, Buckingham KJ, Raymond K, Kircher M, Turner EH, He M, Smith JD, Eroshkin A, Szybowska M, Losfeld ME, Chong JX, Kozenko M, Li C, Patterson MC, Gilbert RD, Nickerson DA, Shendure J, Bamshad MJ, Freeze HH : Mosaicism of the UDP-galactose transporter SLC35A2 causes a congenital disorder of glycosylation. American Journal of Human Genetics 2013. Read the abstract

Xia B, Asif G, Arthur L, Pervaiz MA, Li X, Liu R, Cummings RD, He M. (2013) Oligosaccharide analysis in urine by maldi-tof mass spectrometry for the diagnosis of lysosomal storage diseases. Clin Chem. 2013 Sep;59(9):1357-68. Read the abstract

Jones MA, Rhodenizer D, De Silva C, Huff IJ, Keong L, Bean LJ, Coffee B, Collins C, Tanner A, He M, Hegde MR (2013) Molecular Diagnostic testing for congenital disorders of glycosylation (CDG): Detection rate for single gene testing and next generation sequencing panel testing. Mol Genet Metab Sept; 110(1-2):78. Read the abstract

Xia B, Zhang W, Li X, Jiang R, Harper T, Liu R, Cummings RD, He M. (2013) Serum N-glycan and O-glycan analysis by mass spectrometry for diagnosis of congenital disorders of glycosylation. Anal Biochem. pii: S0003-2697(13)00355-2. doi: 10.1016/j.ab.2013.07.037. Read the abstract


Jones MA, Ng BG, Bhide S, Chin E, Rhodenizer D, He P, Losfeld ME, He M, Raymond K, Berry G, Freeze HH, Hegde MR: DDOST mutations identified by whole-exome sequencing are implicated in congenital disorders of glycosylation. American Journal of Human Genetics 10(90 (2)): 363-8, Feb 2012. Read the abstract

Kalinina J, Carroll A, Wang L, Yu Q, Mancheno DE, Wu S, Liu F, Ahn J, He M, Mao H, Van Meir EG: Detection of "oncometabolite" 2-hydroxyglutarate by magnetic resonance analysis as a biomarker of IDH1/2 mutations in glioma. Journal of Molecular Medicine 17, Mar 2012. Read the abstract

Liu Y, Xia B, Gleason TJ, Castañeda U, He M, Berry JT, Fridovich-Keil JL: N- and O-linked glycosylation of total plasma glycoproteins in galactosemia. 106: 442-54, May 2012. Read the abstract

He M, Matern D, Raymond KM, Wolfe L: The congenital disorders of glycosylation. AACC Press Page: 177-197, 2012.

Wolfe LA, Morava E, He M, Vockley J, Gibson KM: Heritable disorders in the metabolism of the dolichols: A bridge from sterol biosynthesis to molecular glycosylation. American Journal of Medical Genetics Part C (Seminars in Medical Genetics) 160C(4): 322-8, Nov 2012. Read the abstract




He M, Matern D, Raymond KM, Wolfe L: The congenital disorders of glycosylation. Washington, DC: AACC Press Page: 177-197, 2012.

Posters and Presentations


He M: Clinical Evaluation and Treatment of Patients with SC4MOL Deficiency, a New Disorder in Cholesterologenesis. SSIEM, Platform presentation, Breaking news and Hot topics session 2012.

He M: Discovery of an abnormal and unanticipated N-glycan biomarker for ALG1-CDG (CDG-Ik). ACMG Platform presentation 2012.