Miao He, Ph.D

faculty photo
Assistant Professor of Pathology and Laboratory Medicine at the 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
B.Sc. (Biochemistry)
Shanghai University of Science and Technology, 1993.
Ph.D. (Genetics)
University of Leeds, 1999.
Permanent link
> Perelman School of Medicine   > Faculty   > Details

Description of Clinical Expertise

1. Diagnosis of congenital disorder 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 their role in overproliferative inflammatory skin disorders

2. Glycomics Biomarkers for inherited metabolic diseases

Selected Publications

Mary Hackbarth,Megan S Kane, Mariska Davids,Miao He, Lynne Wolfe,David R. Adams, William A Gahl, May Christine V. Malicdan,: Assessment of VPS18 as candidate gene in an individual with undiagnosed disease and abnormal glycosylation. 2016 American Society of Cell Biology Annual meeting Dec 2017.

Andrew C. Edmondson, David Fan, Xueli Li, Yair Argon, Miao He, : Type I Congenital Disorders of Glycosylation alter endoplasmic reticulum protein folding quality control process via aberrant glycan moieties. 2017 ACMG Annual Clinical Genetics meeting April 2017.

Miao He, Xueli Li, Jianping Kong, Min Peng , David Fan, Yair Argon, Marni J. Falk: The role of proteotoxicity in the pathogenesis of NGLY1 deficiency 2017 ACMG Annual Clinical Genetics Meeting April 2017.

Megan S Kane, Ph.D.; Mariska Davids; Michelle R Bond; Christopher J Adams; Megan E Grout; Ian G Phelps; Diana R O'Day; Jennifer C Dempsey; Xeuli Li; Gretchen Golas; Gilbert Vezina; Meral Gunay-Aygun; John A Hanover; Dan Doherty; Miao He; May Christine V Malicdan; William A Gahl; Cornelius F Boerkoel: Abnormal glycosylation in Joubert syndrome type 10. Cilia Nov 2017 Notes: accepted.

Juliya Kalinina, Jun Ahn, Narra S. Devi, Liya Wang,Yuancheng Li, Jeffrey J. Olson, Michael Glantz,Thomas Smith, Ella L. Kim, Alf Giese, Randy L. Jensen, Clark C. Chen, Bob S. Carter, Hui Mao, Miao He, and Erwin G. Van Meir: Selective Detection of the D-enantiomer of 2-Hydroxyglutarate in the CSF of Glioma Patients with Mutated Isocitrate Dehydrogenase. Clinical cancer research 22(24): 6256-6265, Dec 2016.

Rebecca Ganetzky, Francis J Reynoso, Miao He: "Biomarkers for congenital disorders of glycosylation" Biomarkers in inborn errors of metabolism. Garg Uttam (eds.). Elsevier, Dec 2016 Notes: accepted.

Miao He, K. M. Gibson: Investigation for Metabolic Diseases-Biochemical Studies. Inherited Metabolic Diseases. Georg F. Hoffmann, Johannes Zschocke and William L Nyhan (eds.). Springer, Feb 2016 Notes: accepted.

Bobby G. Ng, Sergey A. Shiryaev, Daisy Rymen, Erik A. Eklund, Kimiyo Raymond, Martin Kircher, Jose E. Abdenur, Fusun Alehan, Midro Alina, Michael J. Bamshad, Rita Barone, Gerard T. Berry, Jane E. Brumbaugh, Kati J. Buckingham, Katie Clarkson, F. Sessions Cole, Shawn O'Connor, Gregory M. Cooper, Rudy Van Coster, Laurie A. Demmer, Luisa Diogo, Alexander J. Fay, Can Ficicioglu, Agata Fiumara, William A. Gahl, Rebecca Ganetzky, Himanshu Goe, Lyndsay A. Harshman, Miao He, Jaak Jaeken, Philip M. James, Daniel Katz, Liesbet Keldermans, Maria Kibaek, Andrew J. Kornberg, Katherine Lachlan, Christina Lam, Joy Yaplito-Lee, Deborah A. Nickerson, Heidi L. Peters, Valerie Race, Luc Régal, Jeffrey S. Rush, S. Lane Rutledge, Jay Shendure, University of Washington Center for Mendelian Genomics, Erika Souche, Susan E. Sparks, Pamela Trapane, Amarilis Sanchez-Valle, Eric Vilain, Arve Vøllo, Charles J. Waechter, Raymond Y. Wang, Lynne A. Wolfe , Derek A. Wong, Tim Wood, Amy C. Yang, Gert Matthijs, Hudson H. Freeze: ALG1-CDG: Clinical and molecular characterization of 39 unreported patients. Human Mutation 2016 Notes: In press.

back to top
Last updated: 02/20/2018
The Trustees of the University of Pennsylvania