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

Melissa J. MacPhersona,. Micheil Innesa, Lorne Seargeant, Miao He, Walla Al-Hertania : Diagnostic challenges in a patient with global developmental delay, lipodystrophy, periventricular leukomalacia and spasticity. Canadian College of Medical Genetics 2018 annual meeting Jun 2018.

Chen J, Bennett M, He M: Plasma N-glycan profiling for diagnosis of Congenital disorders of glycosylation (CDG) by flow injection-ESI-QTOF American Society for Mass Spectrometry 67th Annual Meeting Jun 2018.

MacPherson MJ, He M, Al-Hertani W: Expanding the Clinical Phenotype of NUS1-CDG, a rare Congenital Disorder of Glycosylation. Garrod Symposium 2018 May 2018.

Miao He, Jie Chen , Xueli Li, Andrew Edmondson, Michael J Bennett, : Deciphering plasma N-glycan profiles for diagnosing congenital disorders of glycosylation ACMG annual meeting 2018 April 2018.

Andrew C. Edmondson, MD, Jie Chen, , Sanmati Cuddapah, Can Ficicioglu, Rebecca Ganetzky, Lynne A. Ierardi-Curto, Staci Kallish, Marc Yudkoff, Michael Bennett, and Miao He, : Exploring the clinical and biochemical presentation of type i congenital disorders of glycosylation (CDG). 2018 SBP Rare Disease Day Symposium and CDG Family Conference Feb 2018.

Kong Jianping, Peng Min, Ostrovsky Julian, Kwon Young Joon, Oretsky Olga, McCormick Elizabeth M, He Miao, Argon Yair, Falk Marni J: Mitochondrial function requires NGLY1. Mitochondrion 38: 6-16, Jan 2018.

Davis Kellie, Webster Duncan, Smith Chris, Jackson Sheryl, Sinasac David, Seargeant Lorne, Wei Xing-Chang, Ferreira Patrick, Midgley Julian, Foster Yolanda, Li Xueli, He Miao, Al-Hertani Walla: ALG9-CDG: New clinical case and review of the literature. Molecular genetics and metabolism reports 13: 55-63, Dec 2017.

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.

Ortiz-González Xilma R, Tintos-Hernández Jesus A, Keller Kierstin, Li Xueli, Foley A Reghan, Bharucha-Goebel Diana X, Kessler Sudha K, Yum Sabrina W, Crino Peter B, He Miao, Wallace Douglas C, Bönnemann Carsten G: Homozygous Boricua TBCK Mutation Causes Neurodegeneration and Aberrant Autophagy. Annals of neurology Dec 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.

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