Associate Professor of Clinical Pathology and Laboratory Medicine
Perelman School of Medicine at the University of Pennsylvania

Contact InformationChildren's Hospital of Philadelphia
716 Abramson Research Center
3615 Civic Center Blvd
Philadelphia, PA 19104

Specialty Division

CHOP Division of Genomic Diagnostics

Expertise Summary

Molecular diagnosis for neurodevelopmental disorders and mitochondrial disorders

Clinical Expertise

The main role of my clinical service is to provide integrated genomic testing to clinicians. I am particularly interested in neurodevelopmental disorders and mitochondrial disorders. Our lab has developed and validated a highly sensitive and accurate clinical testing for mtDNA analysis, permitting identification of genetic etiology for mitochondrial disorders due to mtDNA defects. I am also engaged in clinical application of whole exome sequencing and Next Generation Sequencing panel analysis for patients with neurodevelopmental disorders, epilepsy and other rare undiagnosed genetic disorders.

Research Expertise

Mitochondrial genome analysis by using single long-range PCR followed by NGS, which can simultaneously detect mtDNA point mutations, small indels, provide accurate heteroplasmy level. It is also a highly sensitive assay to detect mtDNA large deletion and multiple deletions. This assay has been widely adapted by clinical diagnostic laboratories and become a new gold standard for mtDNA analysis.

Other Expertise

Whole exome sequencing for pediatric neurodevelopmental disorders


MD Sun Yat-sen University of Medical Sciences, China, 1986
M.Sc. (Medical Genetics), Sun Yat-sen University of Medical Sciences, China, 1989

Specialty Certification

American Board of Medical Genetics Clinical Molecular Genetics and Genomics (ABMGG), 2009
Clinical Genetic Molecular Biologist Scientist (CBMBS) License, 2016
American Society for Clinical Pathology (ASCP) Molecular Biology (MB), 2016

Postgraduate Training

Postdoctoral Fellow, Molecular Biology, Center for Molecular Biology of Oral Diseases, University of Illinois at Chicago, 1999-2000
Postdoctoral Fellow, Mitochondrial Diagnostic Laboratory, Baylor College of Medicine, 2006-2007
Fellow, ABMG Clinical Molecular Genetics, Baylor College of Medicine, 2007-2009

Awards and Honors

Outstanding Medical Student Award, Sun Yat-Sen University of Medical Sciences, 1986
Science and Technology Progress Award for project "Analysis of hemolytic anemia caused by hereditary erythrocyte enzyme deficiency," National Education Commission of China, 1987
Ministry of Public Health Award for project "Prevention and treatment for mental retardation caused by G6PD deficiency," Ministry of Public Health of China, 1991
Science and Technology Progress Award for project "Molecular genetic analysis for G6PD deficiency," National Education Commission of China, 1995
Molecular Surgeon Research Award, Department of Surgery, Baylor College of Medicine, 2005

Memberships and Professional Organizations

American Society of Human Genetics (ASHG), 2010-Present
Fellow of American College of Medical Genetics and Genomics (FACMG), 2010-Present
Association of Molecular Pathology (AMP), 2014-Present

Web Links

Selected Publications

Advanced approach for comprehensive mtDNA genome testing in mitochondrial disease

Wang J, Balciuniene J, Diaz-Miranda MA, McCormick EM, Aref-Eshghi E, Muir AM, Cao K, Troiani J, Moseley A, Fan Z, Zolkipli-Cunningham Z, Goldstein A, Ganetzky RD, Muraresku CC, Peterson JT, Spinner NB, Wallace DC, Dulik MC, Falk MJ, Mol Genet Metab 135(1): 93-101, 2022, PMID:34969639

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Immune Dysregulation in Human ITCH Deficiency Successfully Treated with Hematopoietic Cell Transplantation

Patel T, Henrickson SE, Moser EK, Field NS, Maurer K, Dawany N, Conrad M, Bunin N, Freedman JL, Heimall J, Arnold DE, Wang J, Markowitz JE, Payne-Poff SB, Williams KW, Russo PA, Wherry EJ, Devoto M, Oliver P, Sullivan KE, Kelsen J, J Allergy Clin Immunol Pract 9(7): 2885-2893, 2021, PMID:33894394

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Clinical and laboratory interpretation of mitochondrial mRNA

Wong LC, Chen T, Schmitt ES, Wang J, Tang S, Landsverk M, Li F, Wang Y, Zhang S, Zhang VW, Craigen WJ. Hum Mutat, 2020

Interpretation of mitochondrial tRNA variants.

Wong LC, Chen T, Wang J, Tang S, Schmitt ES, Landsverk M, Li F, Wang Y, Zhang S, Zhang VW, Craigen WJ. Genet Med, 2020

Kinetic and structural changes in HsmtPheRS, induced by pathogenic mutations in human FARS2

Kartvelishvili E, Tworowski D, Vernon H, Moor N, Wang J, Wong LJ, Chrzanowska-Lightowlers Z, Safro M. Protein Sci. 26(8): 1505-1516, 2017

Next generation deep sequencing corrects diagnostic pitfalls of traditional molecular approach in a patient with prenatal onset of Pompe disease

Tsai ACH, Hung YW, Harding C, Koeller DM, Wang J, Wong LJC. American Journal of Medical Genetics, Part A 173(9): 2500-2504, 2017

FBXL4 defects are common in patients with congenital lactic acidemia and encephalomyopathic mitochondrial DNA depletion syndrome

Dai H, Zhang VW, El-Hattab AW, Ficicioglu C, Shinawi M, Lines M, Schulze A, McNutt M, Gotway G, Tian X, Chen S, Wang J, Craigen WJ, Wong LJ. Clin Genet. 91(4): 634-639. doi: 10.1111/cge.12894. Epub 2017 Jan 5., 2017

Improved Diagnosis of Inherited Retinal Dystrophies by High-Fidelity PCR of ORF15 followed by Next-Generation Sequencing

Li J, Tang J, Feng Y, Xu M, Chen R, Zou X, Sui R, Chang EY, Lewis RA, Zhang VW, Wang J, Wong LC. J Mol Diagn. 18(6): 817-824, 2016.

Retinal Diseases Caused by Mutations in Genes Not Specifically Associated with the Clinical Diagnosis

Wang X, Feng Y, Li J, Zhang W, Wang J, Lewis RA, Wong LJ. PLoS One. 11(10): e0165405, 2016

Rapid molecular diagnostics of severe primary immunodeficiency determined by using targeted next-generation sequencing

Yu H, Zhang VW, Stray-Pedersen A, Hanson IC, Forbes LR, de la Morena MT, Chinn IK, Gorman E, Mendelsohn NJ, Pozos T, Wiszniewski W, Nicholas SK, Yates AB, Moore LE, Berge KE, Sorte H, Bayer DK, ALZahrani D, Geha RS, Feng Y, Wang G, Orange JS, Lupski JR, Wang J, Wong LJ. J Allergy Clin Immunol. 138(4): 1142-1151.e2, 2016