Education and Training
Medical Genetics - Mayo Medical School, Rochester, MN
Clinical Biochemical Genetics - Univeristy of Pittsburgh, Pittsburgh, PA
PhD in Genetics - University of Leeds, Leeds, West Yorkshire, England
Titles and Academic Titles
Co-Director, Metabolic and Advanced Diagnostics
Adjunct Assistant Professor of Pathology and Laboratory Medicine, Perelman School of Medicine at the University of Pennsylvania
Departments and Services
Jie Chen, Xueli Li, Andrew Edmondson, Gail Ditewig Meyers, Kosuke Izumi, Amanda M. Ackermann,Eva Morava-Kozicz, Can Ficicioglu, Michael J. Bennett, and Miao He1: Increased Clinical Sensitivity and Specificity of Plasma Protein N-Glycan Profiling for Diagnosing Congenital Disorders of Glycosylation by Use of Flow Injection-Electrospray Ionization-Quadrupole Time-of-Flight Mass Spectrometry. Clinical Chemistry 65(5): 653-663, February 2019.
Davids M, Kane MS, Wolfe LA, Toro C, Tifft CJ, Adams D, Li X, Raihan MA, He M, Gahl WA, Boerkoel CF, Malicdan MCV.: Glycomics in rare diseases: from diagnosis to mechanism. Transl Res. Oct 2018.
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 83(1): 153-165, Jan 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.
Wong Sunnie Yan-Wai, Gadomski Therese, van Scherpenzeel Monique, Honzik Tomas, Hansikova Hana, He Miao, et al: Oral D-galactose supplementation in PGM1-CDG. Genetics in Medicine : Official Journal of The American College of Medical Genetics 19(11): 1226-1235, Nov 2017.
Lin Wen, Vann David R, Doulias Paschalis-Thomas, Wang Tao, Landesberg Gavin, Li Xueli, Ricciotti Emanuela, Scalia Rosario, He Miao, Hand Nicholas J, Rader Daniel J: Hepatic metal ion transporter ZIP8 regulates manganese homeostasis and manganese-dependent enzyme activity. The Journal of Clinical Investigation 127(6): 2407-2417, Jun 2017.
Gall Timothy, Valkanas Elise, Bello Christofer, Markello Thomas, Adams Christopher, Bone William P, He Miao, et al: Defining disease, diagnosis, and translational medicine within a homeostatic perturbation paradigm: The National Institutes of Health Undiagnosed Diseases Program Experience. Frontiers in Medicine 4: 62, May 2017.
Megan S Kane, PhD.; 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 6(2), Mar 2017.
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.
Ng Bobby G, Shiryaev Sergey A, Rymen Daisy, Eklund Erik A, Raymond Kimiyo, He Miao, et al: clinical and molecular characterization of 39 unreported patients. Human Mutation 37(7): 653-60, Jul 2016.
Davids Mariska, Kane Megan S, He Miao, Wolfe Lynne A, Li Xueli, Raihan Mohd A, Chao Katherine R, Bone William P, Boerkoel Cornelius F, Gahl William A, Toro Camilo: Disruption of Golgi morphology and altered protein glycosylation in PLA2G6-associated neurodegeneration. Journal of Medical Genetics 53(3): 180-9, Mar 2016.
Zhang Wenyue, James Philip M, Ng Bobby G, Li Xueli, Xia Baoyun, Rong Jiang, Asif Ghazia, Raymond Kimiyo, Jones Melanie A, Hegde Madhuri, Ju Tongzhong, Cummings Richard D, Clarkson Katie, Wood Tim, Boerkoel Cornelius F, Freeze Hudson H, He Miao: A novel N-Tetrasaccharide in patients with congenital disorders of glycosylation, including Asparagine-Linked Glycosylation Protein 1, Phosphomannomutase 2, and Mannose Phosphate Isomerase deficiencies. Clinical Chemistry 62(1): 208-17, Jan 2016.
Xueli Li, Mohd A Raihan, Francis Jeshira Reynoso, Miao He: Glycosylation Analysis for Congenital Disorders of Glycosylation. Current Protocols in Human Genetics. Wiley, 86(17): 1-17, Jul 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.
Laila Shehata1*, Dimitre R. Simeonov1*, Anja Raams, Lynne Wolfe, Adeline Vanderver,Xueli Li, Yan Huang, Shannon Garner, Cornelius F. Boerkoel, Audrey Thurm, Gail E.Herman, Cynthia J. Tifft, Miao He, Nicolaas G.J. Jaspers, William A. Gahl: ERCC6 dysfunction presenting as progressive neurological decline with brain hypomyelination. Journal of Medical Genetics 8(5): 2892-900, Nov 2014.
Leoyklang P, Malicdan MC, Yardeni T, Celeste F,Ciccone C, Li X, Jiang R, Gahl WA, Carrillo-Carrasco N, He M, Huizing M. : Sialylation of Thomsen-Friedenreichantigen is a noninvasive blood-based biomarker for GNE myopathy. Biomarkers in Medicine 8(5): 641-652, Jun 2014.
Sadat MA1, Moir S, Chun TW, Lusso P, Kaplan G, Wolfe L, Memoli MJ, He M, Vega H, Kim LJ, Huang Y, Hussein N, Nievas E, Mitchell R, Garofalo M, Louie A, Ireland DC, Grunes C, Cimbro R, Patel V, Holzapfel G, Salahuddin D, Bristol T, Adams D, Marciano BE, Hegde M, Li Y, Calvo KR, Stoddard J, Justement JS, Jacques J, Long Priel DA, Murray D, Sun P, Kuhns DB, Boerkoel CF, Chiorini JA, Di Pasquale G, Verthelyi D, Rosenzweig SD.: Glycosylation, hypogammaglobulinemia, and resistance to viral infections. New England Journal of Medicine 370(17): 1615-25, April 2014.
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.
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.
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.
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.
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.
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.
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.
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.
He M, Pei Z, Mohsen AW, Watkins P, Murdoch G, Van Veldhoven PP, Ensenauer, Vockley J: Identification and characterization of new long chain Acyl-CoA dehydrogenases. Molecular Genetics and Metabolism 102(4): 418-29, Apr 2011.
McHugh D, Cameron CA, Abdenur JE, Abdulrahman M, Adair O, He M, et al : Clinical validation of cutoff target ranges in newborn screening of metabolic disorders by tandem mass spectrometry: a worldwide collaborative project. Genetics in Medicine 13(3): 230-54, Mar 2011.
Ju T, Xia B, Aryal RP, Wang W, Wang Y, Ding X, Mi R, He M, Cummings RD: A novel fluorescent assay for T-synthase activity. Glycobiology 21(3): 352-62, Mar 2011.
He M, Kratz LE, Michel JJ, Vallejo AN, Ferris L, Kelley RI, Hoover JJ, Jukic D, Gibson KM, Wolfe LA, Rammachandran D, Zwick ME, Vockley J: Mutations in the human SC4MOL gene encoding a novel methyl sterol oxidase cause psoriasiform dermatitis, microcephaly, and developmental delay. Journal of Clinical Investigation 1(121 (3)): 976-84, Mar 2011.
Wolfe LA, He M, Vockley J, Payne N, Rhead W, Hoppel C, Spector E, Gernert K, Gibson KM: Novel ETF dehydrogenase mutations in a patient with mild glutaric aciduria type II and complex II-III deficiency in liver and muscle. Journal of Inherited Metabolic Diseases 33(Suppl 3:S481-7), Nov 2010.
Yingchun Wang, Tongzhong Ju*, Xiaokun Ding, Baoyun Xia,Wenyi Wang, Lijun Xia, Miao He and Richard D. Cummings: COSMC is an essential chaperone for correct O-glycosylation. PNAS 107(20): 9228-33, May 2010.
Bonilla Guerrero R, Wolfe LA, Payne N, Tortorelli S, Matern D, Rinaldo P, Gavrilov D, Melan M, He M, Steinberg SJ, Raymond GV, Vockley J, Gibson KM. : Essential fatty acid profiling for routine nutritional assessment unmasks adrenoleukodystrophy in an infant with isovaleric acidaemia. Journal of Inherited Metabolic Diseases 2:S453-6(10-1007/s10545-008-1039-y), Dec 2008.
McAndrew RP, Wang Y, Mohsen AW, He M, Vockley J, Kim JJ: Structural basis for substrate fatty acyl chain specificity: crystal structure of human very-long-chain acyl-CoA dehydrogenase. Journal of Biological Chemistry 283(14): 9435-43, Apr 2008.
He M., Rutledge SL, Kelly DR, Palmer CA, Murdoch G, Majumder N , Nicholls RD, Pei Z, Watkins PA, Vockley J: A new genetic disorder in mitochondrial fatty acid β-oxidation, ACAD9 deficiency. American Journal of Human Genetics 81(1): 87-103, 2007.
Goetzman ES*, Wang Y*, He M, Mohsen A-W, Ninness BK, Vockley J: Expression and characterization of mutations in human very long-chain acyl-CoA dehydrogenase using a prokaryotic system. Molecular Genetics and Metabolism 91(2): 138-147, 2007.
He M, Goetzman ES, Nguyen TV, Vockley J : Functional analysis of acyl-CoA dehydrogenase catalytic residue mutants using surface plasmon resonance and circular dichroism" Molecular Genetics and Metabolism. Molecular Genetics and Metabolism 87(3): 233-242, March 2006.
Oglesbee D., He M., Majumder N., Vockley J., Ahmad A., Burton B., Ensenauer R., Matern D: Development of a newborn screening follow up algorithm for the diagnosis of isobutyryl-CoA dehydrogenase deficiency. Genetics in Medicine 9(2): 108-16, February 2006.
Ensenauer R, He M, Willard JM, Goetzman ES, Corydon TJ, Vandahl BB, Mohsen AW, Isaya G, Vockley J: Human acyl-CoA dehydrogenase-9 plays a novel role in the mitochondrial (beta)-oxidation of unsaturated fatty acids Journal of Biological Chemistry 280(37): 32309-16, Sep 2005.
Yu X, Chini C, He M, Chen J : The BRCA1 BRCT domain recognizes a phosphorylated motif. Science 302(5645): 639-42, Oct 2003.
He M, Burghardt TP, Vockley J : A novel approach to the characterization of substrate specificity in short/branched chain Acyl-CoA dehydrogenase. Journal of Biological Chemistry 278(39): 37974 - 86, Sep 2003.
Matern D, He M, Berry SA, Rinaldo P, Whitley CB, Madsen PP, van Calcar SC, Lussky RC, Andresen BS, Wolff JA, Vockley J : Prospective diagnosis of 2-methylbutyryl-CoA dehydrogenase deficiency in the Hmong population by newborn screening using tandem mass spectrometry. Pediatrics 112(1 Pt 1): 74-8, Jul 2003.
He M, Miao H, Chen XF, DU Y: Effect of arginine-vasopressin short analogs on the growth of C6 cells. Chinese Journal of Cell Biology 17(4): 176-80, 1995.
He M, Xu Z: Yeast Ferment for Preparing FDP Sodium Salt. Research Reports of Shanghai University of Science and Technology 11(1): 22-27, 1993.
Jan Verheijen, PhD, Sunnie Y Wong, MD, PhD, Jared H Rowe, MD, PhD, Kimiyo Raymond, MD, PhD, Ottavia M Delmonte, MD, Yasuhiro Yamazaki, MD, PhD, Miao He, PhD, Luigi D Notarangelo, MD, PhD, *, Eva Morava, MD, PhD, *: Defining a new immune deficiency syndrome; MAN2B2-CDG. SIMD 41st annual meeting 2019 April 2019.
Andrew Edmondson, Miao He, Eva Morava: Galactose supplementation in SLC35A2 patients. SIMD 41st annual meeting April 2019.
Jan Verheijen, Sunnie Y Wong, MD, PhD, Jared H Rowe, MD, PhD, Kimiyo Raymond, MD, PhD, Ottavia M Delmonte, MD, Yasuhiro Yamazaki, MD, PhD, Miao He, PhD, Luigi D Notarangelo, MD, PhD, *, Eva Morava, MD, PhD, *: Defining a new immune deficiency syndrome; MAN2B2-CDG. SSIEM 2018 annual meeting September 2018.
Rebecca Ganetzky, Francis J Reynoso, Miao He: "Biomarkers for congenital disorders of glycosylation" Biomarkers in Inborn Errors of Metabolism. Garg Uttam (eds.). Elsevier, Chapter 15: 343-60, Dec 2016.
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, Chapter 37: 439-60, Feb 2016.
He M, Matern D, Raymond KM, Wolfe L: The congenital disorders of glycosylation. Washington, DC: AACC Press Page: 177-197, 2012.
Posters and Presentations
Verheijen J, Wong SY, Rowe JH, He M, Notarangelo LD, Morava E: Defining a new immune deficiency syndrome, MAN2B2-CDG. SSIEM annual meeting, 2018, Athens, Greece; Sept 2018 Notes: Oral Presentation.
Melissa J. MacPhersona,. Micheil Innesa, Lorne Seargeant, Miao He, Walla Al-Hertani : Diagnostic challenges in a patient with global developmental delay, lipodystrophy, periventricular leukomalacia and spasticity. Canadian College of Medical Genetics 2018 Annual Meeting Jun 2018 Notes: Oral Presentation.
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 Notes: Poster Presentation.
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 Notes: Poster Presentation.
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 Notes: Poster Presentation.
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 Notes: Poster Presentation.
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 Notes: Poster Presentation.
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 Notes: Poster Presentation.
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 Notes: Poster Presentation.
He M. "Time of flight mass spectrometry for identification of Congenital Disorders of Glycosylation" the Pathology Grand Rounds, Texas Children's Hospital, TX. Nov, 2018.
He M. "Time of flight mass spectrometry for identification of Congenital Disorders of Glycosylation", AACC Mass Spectrometry workshop 2018, Philadelphia. Oct, 2018.
He M. "Clinical application of glycome analysis by LC-ESI-MS". AACC Mass Spectrometry workshop 2017, Philadelphia, PA. Aug, 2017.
He M. "Proteotoxicity plays a role in NGLY1 deficiency". Grace Science Foundation, Del Mar, California. Jul, 2017.
Awards and Honors
2010, 2013, CCRRD Meeting Travel Award, NIH Office of Rare Disease
2010-2012, NIH Sterol and Isoprenoid Related Disease Consortium Career Development Award
2007, The Neil Buist Award For The Best Presentation at SIMD Annual Meeting
2006-2008, The SIMD/Upcycled fellowship award, Society of Inherited Metabolic Disorder
2004, Travel Award, Brain Uptake and Utilization of Fatty Acids International Workshop
2003-2007, Young Investigator Awards, Society of Inherited Metabolic Disorders
1993, Chinese National Student Representative, Pan-Pacific International Leadership Conference
1993, National Model Student Award, P.R. China
1992, Young Scientist Award, Baogong Corporation Prize
Editorial and Academic Positions
2018-present, Peer reviewer, American Journal of Human Genetics
2017-present, Peer reviewer, Annals of Clinical Biochemistry
2015-present, Peer reviewer, Gene
2010-present, Peer reviewer, Clinical Chemistry
2010-present, Peer reviewer, Molecular Genetics and Metabolism
2009-present, Peer reviewer, Journal of Inherited Metabolic Disease
Leadership and Memberships
Memberships in Professional Organizations
2009-present, American Board of Medical Genetics, Fellow
2009-present, American College of Human Genetics
2000-present, Society for Inherited Metabolic Disorders
2000-present, American Society of Human Genetics
Patient Experience Ratings
About the Patient Experience Rating System
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