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Miao He, Ph.D

Miao He, Ph.D

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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
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. 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

Wenyue Zhang, Philip M James, Bobby G. Ng, Xueli Li, Baoyun Xia, Jiang Rong, Ghazia Asif, Kimiyo Raymond, Melanie A Jones, Madhuri Hegde, Tongzhong Ju, Richard D. Cummings, Katie Clarkson, Tim Wood, Cornelius. F. Boerkoel, Hudson H.Freeze, Miao He : A Novel N-tetrasccharide in patients with congenital disorders of glycosylation including asparagine-linked glycosylation protein 1, phosphomannomutase 2 and phosphomannose isomerase deficiencies. Clinical Chemistry In Press, Oct 2015.

Xueli Li, Mariska Davids, Megan Kane, Lynne Wolfe, Mohd Raihan, Cornelius Boerkoe, William Gah,. Miao He.: Comprehensive Glycomics Analysis by MALDI TOF/MS in Human CSF. The 65th Annual Meeting of The American Society of Human Genetics, October 7, 2015 in Baltimore, MD. Oct 2015.

Mariska Davids, Megan S Kane, Miao He, Cornelius F. Boerkoel, William A Gahl: An agnostic screen of protein glycosylation in the attempt to diagnose rare genetic disorders and unravel mechanism of disease. The 65th Annual Meeting of The American Society of Human Genetics, October 7, 2015 in Baltimore, MD Oct 2015.

Jianping Kong, Min Peng, Eiko Nakamaru-Ogiso, Miao He, Julian Ostrovsky, Young-Joon Kwon, Elizabeth McCormick, Tadashi Suzuki, Yair Argon, Marni J. Falk: NGLY1 deficiency causes mitochondrial dysfunction and induces oxidative stress. The 65th Annual Meeting of The American Society of Human Genetics, October 7, 2015 in Baltimore, MD Oct 2015.

Xueli Li, Mohd A Raihan, Francis Jeshira Reynoso, Miao He: Glycosylation Analysis for Congenital Disorder of Glycosylation. Curr Protoc Hum Genet. Wiley, 86(17): 1-17, july 2015.

Ng BG, Wolfe LA, Ichikawa M, Markello T, He M, Tifft CJ, Gahl WA, Freeze HH: Biallelic mutations in CAD, impair de novo pyrimidine biosynthesis and decreased glycosylation precursors. Human Molecular Genetics 24(11): 3050-7, June 2015.

Reynoso FJ, Horton Harr M, Kesewa A, Kalish J, Li D, Hakonarson H, Bloom K, Burton BK, Bucher J, Zackai EH, He M: Expanding the phenotype of patients with PIGN mutations. Three unrelated patients presenting with hypotonica, intractable seizures and congenital anomalies. 36th Annual David W Smith Workshop on Malformation and Malmorphogenesis April 2015.

Miao He, Min Peng, Xueli Li, Julian Ostrovsky, Young-Joon Kwon, Mohd Raihan, Mariska Davids, Cornelius Boerkoel, Elizabeth McCormick, Tadashi Suzuki, Yair Argon, Marni J. Falk: NGLY1 deficiency lies in the crosshairs of CDG and mitochondrial diseases. Molecular Genetics and Metabolism Mar 2015.

Mariska Davids, Megan S. Kane, , Miao He, , Lynne A. Wolfe, Xueli Li, Mohd A. Raihan, Katherine R. Chao, William P. Bone, Cornelius F. Boerkoel, , William A. Gahl, Camilo Toro,: Disruption of Golgi morphology and altered protein glycosylation in PLA2G6-associated neurodegeneration. Journal of Medical Genetics 2015 Notes: in press.

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, 2015.

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Last updated: 11/06/2015
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