Miao He, Ph.D

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Adjunct Associate Professor of Pathology and Laboratory Medicine
Co-Laboratory Director, Children's Hospital of Philadelphia
Department: Pathology and Laboratory Medicine

Contact information
The Children's Hospital of Philadelphia
Department of Pathology and Laboratory Medicine
34th & Civic Center Boulevard
Philadelphia, PA 19103
Education:
B.Sc. (Biochemistry)
Shanghai University of Science and Technology, 1993.
Ph.D. (Genetics)
University of Leeds, 1999.
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Description of Clinical Expertise

1. Diagnoses of congenital disorders of glycosylation by complexed carbohydrate analysis

2. Genetic disorders in mitochondrial beta oxidation of fatty acids

3. Genetic disorders in cholesterol biogenesis

4. New biomarkers for lysosomal storage conditions

Description of Research Expertise

1. New genetic disorders in cholesterol biogenesis and the roles of sterols in overproliferative inflammatory skin disorders

2. Glycomic biomarkers for inherited metabolic diseases

Selected Publications

Miao He, Earnest James PD, Andrew C. Edmondson, Eva Morava, Hudson H. Freeze: Decipher N-linked glycosylation changes in the plasma from CDG patients. JIMD Oct 2022 Notes: Platform presentation at ICIEM meeting 2022.

Shino Shimada, Bobby G. Ng, Amy L. White, Kim. K. Nickander, Coleman Turgeon, Kristen L. Liedtke, Christina T. Lam, Esperanza Font-Montgomery, Charles M. Lourenço, Miao He, Dawn S. Peck, Luis A. Umaña, Crescenda L. Uhles11, Devon Haynes, Patricia G. Wheeler, Michael J. Bamshad, Deborah A. Nickerson, Tom Cushing, Ryan Gates, Natalia Gomez-Ospina, Heather M. Byers, Fernanda B. Scalco, Noelia N. Martinez,Rani Sachdev, Lacey Smith, Annapurna Poduri, Stephen Malone, Rebekah Harris, Ingrid E. Scheffer, Sergio D. Rosenzweig, David R. Adams, William A.Gahl1, May CV. Malicdan, Kimiyo M. Raymond, Hudson H. Freeze, Lynne A.Wolfe: Clinical, biochemical and genetic characteristics of MOGS-CDG, a rare congenital disorder of glycosylation. Journal of Medical Genetics April 2022 Notes: Accepted.

Ritter AL, Gold J, Hayashi H, Ackermann AM, Hanke S, Skraban C, Cuddapah S, Bhoj E, Li D, Kuroda Y, Wen J, Takeda R, Bibb A, El Chehadeh S, Piton A, Ohl J, Kukolich MK, Nagasaki K, Kato K, Ogi T, Bhatti T, Russo P, Krock B, Murrell JR, Sullivan JA, Shashi V, Stong N, Hakonarson H, Sawano K, Torti E, Willaert R, Si Y, Wilcox WR, Wirgenes KV, Thomassen K, Carlotti K, Erwin A, Lazier J, Marquardt T, He M, Edmondson AC, Izumi K.: Expanding the phenotypic spectrum of ARCN1-related syndrome. Genet Med Mar 2022.

Xinying Hong, Hana Alharbi, Daniah Albokhari, Andrew C. Edmondson, and Miao He: A 6-Month-Old Infant With Severe Failure to Thrive During COVID-19 Pandemic. Clin Chem 2022 Notes: case report, accepted.

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: 1735-1737, Nov 2021.

Earnest James PD, Andrew C. Edmondson, Yair Argon. Hind Alsharhan, Christina Lam, Kimiyo Raymond, Hudson H. Freeze, Miao He: Biochemical consequences of deficient glycan extension in ALG3-CDG. ASHG annual meeting 2021 Oct 2021.

Hind Alsharhan, Hana Alharbi, Staci Kallish, J. Daniel Sharer , Stephen R. Master, Mar Yudkoff and Miao He: NTBC Efficacy in Alkaptonuria. ASHG annual meeting 2021 Oct 2021.

3. Shino Shimada, Bobby G. Ng, Amy L. White, Kim K. Nickander, Coleman Turgeon, Kristen L. Liedtke, Christina Lam, Esperanza Font-Montgomery, Charles M. Lourenço, Miao He, Luis A Umaña, Crescenda L Uhles, Patricia Wheeler, Michael J. Bamshad, Deborah A. Nickerson, Tom Cushing, Ryan Gates, Fernanda B. Scalco, Rani Sachdev Lacey Smith, Annapurna Poduri, Stephen Malone, Rebekah Harris, Ingrid Scheffer, David R. Adams, William A. Gahl, May CV. Malicdan, Kimiyo M. Raymond, Hudson H. Freeze, Lynne A. Wolfe: Clinical and biochemical characteristics of MOGS-CDG, a rare congenital disorder of glycosylation. ASHG annual meeting 2021 Oct 2021.

Larsen LE, van den Boogert MAW, Rios-Ocampo WA, Jansen JC, Conlon D, Chong PLE, Levels JHM, Eilers RE, Sachdev VV, Zelcer N, Raabe T, He M, Hand NJ, Drenth JPH, Rader DJ, Stroes ESG, Lefeber DJ, Jonker JW, Holleboom AG.: Defective Lipid Droplet-Lysosome Interaction Causes Fatty Liver Disease as Evidenced by Human Mutations in TMEM199 and CCDC115. Cell Mol Gastroenterol Hepatol Oct 2021.

Xinying Hong, Miao He, Andrew C. Edmondson: Combined PMM2-CDG and hereditary fructose intolerance in a child with mild clinical presentation: a case report. ASHG annual meeting 2021 Oct 2021.

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Last updated: 03/24/2022
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