Jing Wang, MD, FACMG, ASCP (MB)

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Jing Wang, MD, FACMG, ASCP (MB), is a laboratory director with Division of Genomic Diagnostics at Children's Hospital of Philadelphia.

Appointments and Referrals: 1-800-TRY-CHOP (1-800-879-2467)

Education and Training

Medical School

MD - Sun Yat-sen University of Medical Sciences, China


Molecular Biology, Postdoctoral - Center for Molecular Biology of Oral DiseasesUniversity of Illinois at Chicago, Chicago, IL
Postdoctoral fellow - Mitochondrial Diagnostic Laboratory, Baylor College of Medicine, Waco, TX
Fellow - ABMG Clinical Molecular Genetics, Baylor College of Medicine, Waco, TX

Graduate Degree

MSc in Medical Genetics - Sun Yat-sen University of Medical Sciences, China

Titles and Academic Titles

Laboratory Director, Division of Genomic Diagnostics

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

Departments and Services




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: Advanced approach for comprehensive mtDNA genome testing in mitochondrial disease. Mol Genet Metab 135(1): 93-101, Jan 2022.


Wong LC, Chen T, Wang J, Tang S, Schmitt ES, Landsverk M, Li F, Wang Y, Zhang S, Zhang VW, Craigen WJ.: Interpretation of mitochondrial tRNA variants.  Genet Med January 2020.

Wong LC, Chen T, Schmitt ES, Wang J, Tang S, Landsverk M, Li F, Wang Y, Zhang S, Zhang VW, Craigen WJ. : Clinical and laboratory interpretation of mitochondrial mRNA  Hum Mutat  July 2020.


Kartvelishvili, E., Tworowski, D., Vernon, H., Moor, N., Wang, J., Wong, L.J., Chrzanowska-Lightowlers, Z., Safro, M. : Kinetic and structural changes in HsmtPheRS, induced by pathogenic mutations in human FARS2. Protein Sci. 26(8): 1505-1516, Aug 2017.

Dai, H.,  Zhang, V. W.,  El-Hattab, A. W.,  Ficicioglu, C.,  Shinawi, M.,  Lines, M.,  Schulze, A.,  McNutt, M.,  Gotway, G.,  Tian, X.,  Chen, S.,  Wang, J.,  Craigen, W. J.,  Wong, L. J.: FBXL4 defects are common in patients with congenital lactic acidemia and encephalomyopathic mitochondrial DNA depletion syndrome. Clin Genet. 91(4): 634-639. doi: 10.1111/cge.12894. Epub 2017 Jan 5. 2017.

Tsai, A.C.H., Hung, Y.W., Harding, C., Koeller, D.M., Wang J., Wong, L.J.C. : Next generation deep sequencing corrects diagnostic pitfalls of traditional molecular approach in a patient with prenatal onset of Pompe disease. American Journal of Medical Genetics, Part A  173(9): 2500-2504, 2017.


Wang, X., Feng, Y., Li, J., Zhang, W., Wang, J., Lewis, R.A., Wong, L.J.: Retinal Diseases Caused by Mutations in Genes Not Specifically Associated with the Clinical Diagnosis. PLoS One. 11(10): e0165405. Oct 27 2016 Notes: doi: 10.1371/journal.pone.0165405. eCollection 2016.

Yu, H., Zhang, V.W., Stray-Pedersen, A., Hanson, I.C., Forbes, L.R., de la Morena, M.T., Chinn, I.K., Gorman, E., Mendelsohn, N.J., Pozos, T., Wiszniewski, W., Nicholas, S.K., Yates, A.B., Moore, L.E., Berge, K.E., Sorte, H., Bayer, D.K., ALZahrani, D., Geha, R.S., Feng, Y., Wang, G., Orange, J.S., Lupski, J.R., Wang, J., Wong, L.J.: Rapid molecular diagnostics of severe primary immunodeficiency determined by using targeted next-generation sequencing. J Allergy Clin Immunol. 138(4): 1142-1151.e2.  Oct 2016 Notes: doi: 10.1016/j.jaci.2016.05.035. Epub 2016 Jul 12.

Li, J., Tang, J., Feng, Y., Xu, M., Chen, R., Zou, X., Sui, R., Chang, E.Y., Lewis, R.A., Zhang, V.W., Wang, J., Wong, L.C.: Improved Diagnosis of Inherited Retinal Dystrophies by High-Fidelity PCR of ORF15 followed by Next-Generation Sequencing. J Mol Diagn. 18(6): 817-824. .  Nov; Epub 2016 Sep 10. 2016 Notes: doi: 10.1016/j.jmoldx.2016.06.007.

Chu, J., Pupavac, M., Watkins, D., Tian, X., Feng, Y., Chen, S., Fenter, R.Zhang, V.W., Wang, J., Wong, L.J., Rosenblatt, D.S.: Next generation sequencing of patients with mut methylmalonic aciduria: Validation of somatic cell studies and identification of 16 novel mutations. Mol Genet Metab. 118(4): 264-71, 2016 Notes:  doi: 10.1016/j.ymgme.2016.05.014. Epub 2016 May 20.

Er, T.K., Su, Y.F., Wu, C.C., Chen, C.C., Wang, J., Hsieh, T.H., Herreros-Villanueva, M., Chen, W.T., Chen, Y.T., Liu, T.C., Chen, H.S.Tsai, E. M.: Targeted next-generation sequencing for molecular diagnosis of endometriosis-associated ovarian cancer. J Mol Med (Berl). 94(7): 835-47. 2016 Notes:  doi: 10.1007/s00109-016-1395-2. Epub 2016 Feb 27.

Pupavac, M., Tian, X., Chu, J., Wang, G., Feng, Y., Chen, S., Fenter, R.Zhang, V.W., Wang, J., Watkins, D., Wong, L.J., Rosenblatt, D.S.: Added value of next generation gene panel analysis for patients with elevated methylmalonic acid and no clinical diagnosis following functional studies of vitamin B12 metabolism. Mol Genet Metab. 117(3): 363-8, 2016 Notes: doi: 10.1016/j.ymgme.2016.01.008. Epub 2016 Jan 23.

Qin, L., Wang, J., Tian, X., Yu, H., Truong, C., Mitchell, J.J., Wierenga, K.J., Craigen, W.J., Zhang, V.W., Wong, L.C.: Detection and Quantification of Mosaic Mutations in Disease Genes by Next-Generation Sequencing. J Mol Diagn. 18(3): 446-453, 2016 Notes:  doi: 10.1016/j.jmoldx.2016.01.002. Epub 2016 Mar 2.

Wang, J.,  Yu, H.,  Zhang, V. W.,  Tian, X.,  Feng, Y.,  Wang, G.,  Gorman, E.,  Wang, H.,  Lutz, R. E.,  Schmitt, E. S.,  Peacock, S.,  Wong, L. J.: Capture-based high-coverage NGS: a powerful tool to uncover a wide spectrum of mutation types. Genet Med. 18(5): 513-21. doi: 10.1038/gim.2015.121. Epub 2015 Sep 24. 2016.

Xu, M.,  Eblimit, A.,  Wang, J.,  Li, J.,  Wang, F.,  Zhao, L.,  Wang, X.,  Xiao, N.,  Li, Y.,  Wong, L. J.,  Lewis, R. A.,  Chen, R.: ADIPOR1 Is Mutated in Syndromic Retinitis Pigmentosa. Hum Mutat. 37(3): 246-9. doi: 10.1002/humu.22940. Epub 2016 Jan 6. 2016.


Drendel, H. M.,  Pike, J. E.,  Schumacher, K.,  Ouyang, K.,  Wang, J.,  Stuy, M.,  Dlouhy, S.,  Bai, S.: Intermediate MCAD Deficiency Associated with a Novel Mutation of the ACADM Gene: c.1052C>T. Case Rep Genet 2015:532090.(doi): 10.1155/2015/532090. Epub 2015 Dec 22. 2015.

Tian, X., Liang, W.C., Feng, Y., Wang, J., Zhang, V.W., Chou, C.H., Huang, H.D., Lam, C.W., Hsu, Y.Y., Lin, T.S., Chen, W.T., Wong, L.J., Jong, Y.J.: Expanding genotype/phenotype of neuromuscular diseases by comprehensive target capture/NGS. Neurol Genet. 1(2): e14, 2015 Notes: doi: 10.1212/NXG.0000000000000015. eCollection 2015 Aug.

Wang, J., Pan, S., Li, J., Wong, L.J.  : Molecular defects in mitochondrial protein translation machinery. Mitochondrion 2015 24: S42, 2015 Notes: 10.1016/j.mito.2015.07.115.

Yum H., Wang, J., Schmitt, E.S., Wong, L.J.: Advantages of highly sensitive NGS based test to detect low levels of mtDNA mutations and large deletions. Mitochondrion 24: S44-S45, 2015.

Zhou, S.,  Hertel, P. M.,  Finegold, M. J.,  Wang, L.,  Kerkar, N.,  Wang, J.,  Wong, L. J.,  Plon, S. E.,  Sambrotta, M.,  Foskett, P.,  Niu, Z.,  Thompson, R. J.,  Knisely, A. S.: Hepatocellular carcinoma associated with tight-junction protein 2 deficiency. Hepatology. 62(6): 1914-6. doi: 10.1002/hep.27872. Epub 2015 Jun 19. 2015.


Burrage, L. C.,  Tang, S.,  Wang, J.,  Donti, T. R.,  Walkiewicz, M.,  Luchak, J. M.,  Chen, L. C.,  Schmitt, E. S.,  Niu, Z.,  Erana, R.,  Hunter, J. V.,  Graham, B. H.,  Wong, L. J.,  Scaglia, F.: Mitochondrial myopathy, lactic acidosis, and sideroblastic anemia (MLASA) plus associated with a novel de novo mutation (m.8969G>A) in the mitochondrial encoded ATP6 gene. Mol Genet Metab 113(3): 207-12, 2014.

Granadillo, J. L.,  Moss, T.,  Lewis, R. A.,  Austin, E. G.,  Kelfer, H.,  Wang, J.,  Wong, L. J.,  Scaglia, F.: Early Onset and Severe Clinical Course Associated with the m.5540G>A Mutation in MT-TW. Mol Genet Metab Rep 1: 61-65, 2014.

Wang, J.,  Zhang, V. W.,  Feng, Y.,  Tian, X.,  Li, F. Y.,  Truong, C.,  Wang, G.,  Chiang, P. W.,  Lewis, R. A.,  Wong, L. J.: Dependable and efficient clinical utility of target capture-based deep sequencing in molecular diagnosis of retinitis pigmentosa. Invest Ophthalmol Vis Sci 55(10): 6213-23, 2014.


Cui, H., Li, F., Chen, D., Wang, G., Truong, C.K., Enns, G.M., Graham, B., Milone, M., Landsverk, M.L., Wang, J., Zhang, W., Wong, L.J.: Comprehensive next-generation sequence analyses of the entire mitochondrial genome reveal new insights into the molecular diagnosis of mitochondrial DNA disorders. Genet Med. 15(5): 388-94, May 2013.

Chanprasert, S.,  Wang, J.,  Weng, S. W.,  Enns, G. M.,  Boue, D. R.,  Wong, B. L.,  Mendell, J. R.,  Perry, D. A.,  Sahenk, Z.,  Craigen, W. J.,  Alcala, F. J.,  Pascual, J. M.,  Melancon, S.,  Zhang, V. W.,  Scaglia, F.,  Wong, L. J.: Molecular and clinical characterization of the myopathic form of mitochondrial DNA depletion syndrome caused by mutations in the thymidine kinase (TK2) gene. Mol Genet Metab 110(1-2): 153-61, 2013.

Comeaux, M. S.,  Wang, J.,  Wang, G.,  Kleppe, S.,  Zhang, V. W.,  Schmitt, E. S.,  Craigen, W. J.,  Renaud, D.,  Sun, Q.,  Wong, L. J.: Biochemical, molecular, and clinical diagnoses of patients with cerebral creatine deficiency syndromes. Mol Genet Metab 109(3): 260-8, 2013.

Tang, S.,  Wang, J.,  Zhang, V. W.,  Li, F. Y.,  Landsverk, M.,  Cui, H.,  Truong, C. K.,  Wang, G.,  Chen, L. C.,  Graham, B.,  Scaglia, F.,  Schmitt, E. S.,  Craigen, W. J.,  Wong, L. J.: Transition to next generation analysis of the whole mitochondrial genome: a summary of molecular defects. Hum Mutat 34(6): 882-93, 2013.

Wang, J.,  Cui, H.,  Lee, N. C.,  Hwu, W. L.,  Chien, Y. H.,  Craigen, W. J.,  Wong, L. J.,  Zhang, V. W.: Clinical application of massively parallel sequencing in the molecular diagnosis of glycogen storage diseases of genetically heterogeneous origin. Genet Med 15(2): 106-14, 2013.


Landsverk, M.L., Douglas, G.V., Tang, S., Zhang, V.W., Wang, G.L., Wang, J., Wong, L.J. : Diagnostic approaches to apparent homozygosity. Genet Med. 14(10): 877-82, 2012.

Wang, J., Zhan, H., Li, F.Y., Pursley, A.N., Schmitt, E.S., Wong, L.J.   : Targeted array CGH as a valuable molecular diagnostic approach: Experience in the diagnosis of mitochondrial and metabolic disorders. Mol Genet Metab.  106(2): 221-30, 2012.


Landsverk, M.L., Wang, J., Schmitt, E.S., Pursley, A.N., Wong, L.J. : Utilization of targeted array comparative genomic hybridization, MitoMet, in prenatal diagnosis of metabolic disorders. Mol Genet Metab. 103(2): 148-52, Jun 2011

Wang, G.L.*, Wang, J.*, Douglas, G., Browning, M., Hahn, S., Ganesh, J., Cox, S., Aleck, K., Schmitt, E.S., Zhang, W., Wong, L.J. (* co-first author): Expanded molecular features of carnitine acyl-carnitine translocase (CACT) deficiency by comprehensive molecular analysis. Mol Genet Metab 103(4): 349-57, Aug 2011.

Tang, S., Wang, J., Lee, N.C., Milone, M., Halberg, M.C., Schmitt, E.S., Craigen, W.J., Zhang, W., Wong, L.J.: Mitochondrial DNA polymerase γ mutations: an ever expanding molecular and clinical spectrum. J Med Genet 48(10): 669-81, Oct 2011.

Randolph, L.M., Jackson, H.A., Wang, J., Shimada, H., Sanchez-Lara, P.A., Wong, D.A., Wong, L.J., Boles, R.G. : Fatal infantile lactic acidosis and a novel homozygous mutation in the SUCLG1 gene: a mitochondrial DNA depletion disorder. Mol Genet Metab 102(2): 149-52, 2011.


Häberle, J., Shchelochkov, O.A., Wang, J., Katsonis, P., Hall, L., Reiss, S., Eeds, A., Willis, A., Yadav, M., Summar, S., Lichtarge, O., Rubio, V., Wong, L.J., Summar, M.; and the Urea Cycle Disorders Consortium.   : Molecular Defects in Human Carbamoyl Phosphate Synthetase I: Mutational Spectrum, Diagnostic and Protein Structure Considerations. Hum Mutat. 32(6): 579-89, 2010.

Sadikovic, B., Wang, J., El-Hattab, A., Landsverk, M., Douglas, G., Brundage, E.K., Craigen, W.J., Schmitt, E.S., Wong, L.J.: Sequence homology at the breakpoint and clinical phenotype of mitochondrial DNA deletion syndromes. PLoS One 5(12): e15687, 2010.

Shchelochkov, O.A., Li, F.Y., Wang, J., Zhan, H., Towbin, J.A., Jefferies, J.L., Wong, L.J., Scaglia, F. : Milder clinical course of Type IV 3-methylglutaconic aciduria due to a novel mutation in TMEM70. Mol Genet Metab. 101(2-3): 282-5, 2010.


Brautbar, A.*, Wang, J.*, Abdenur, J.E., Chang, R.C., Thomas, J.A., Grebe, T.A., Lim, C., Weng, S.W., Graham, B.H., Wong, L.J. (*co-first author): The mitochondrial 13513G>A mutation is associated with Leigh disease phenotypes independent of complex I deficiency in muscle. Mol Genet Metab 94(4): 485-90, 2008.

Wong, L.J., Dimmock, D., Geraghty, M.T., Quan, R., Lichter-Konecki, U., Wang, J., Brundage, E.K., Scaglia, F., Chinault, A.C. : Utility of oligonucleotide array-based comparative genomic hybridization for detection of target gene deletions.   Clin Chem. 54(7): 1141-8, 2008.


Wong, L.J., Brunetti-Pierri, N., Zhang, Q., Yazigi, N., Bove, K.E., Dahms, B.B., Puchowicz, M.A., Gonzalez-Gomez, I., Schmitt, E.S., Truong, C.K., Hoppel, C.L., Chou, P.C., Wang, J., Baldwin, E.E., Adams, D., Leslie, N., Boles, R.G., Kerr, D.S., Craigen, W.J. : Mutations in the MPV17 gene are responsible for rapidly progressive liver failure in infancy. Hepatology 46(4): 1218-27, 2007.


Chen, L., Shen, Y.H., Wang, X., Wang, J., Gan, Y., Chen, N., Wang, J., LeMaire, S.A., Coselli, J.S., Wang, X.L.: Human prolyl-4-hydroxylase alpha(I) transcription is mediated by upstream stimulatory factors. J Biol Chem. 281(16): 10849-55, 2006.

Shen, Y.H., Zhang, L., Utama, B., Wang, J., Gan, Y., Wang, X., Wang, J., Chen, L., Vercellotti, G.M., Coselli, J.S., Mehta, J.L., Wang, X.L. : Human cytomegalovirus inhibits Akt-mediated eNOS activation through upregulating PTEN.  Cardiovasc Res.  69(2): 502-11, 2006.

Wang, J., Shen, Y.H., Utama, B., Wang, J., LeMaire, S.A., Coselli, J.S., Vercellotti, G.M., Wang, X.L. : HCMV infection attenuates hydrogen peroxide induced endothelial apoptosis-- involvement of ERK pathway.  FEBS Lett. 580(11): 2779-87, 2006.


Gan, Y., Shen, Y.H., Wang, J., Wang, X., Utama, B., Wang, J., Wang, X.L. : Role of histone deacetylation in cell-specific expression of endothelial nitric oxide synthase.  J Biol Chem.  280(16): 16467-75, 2005.

Raveendran, M., Wang, J., Senthil, D., Wang, J., Utama, B., Shen, Y., Dudlay, D., Zhang, Y., Wang, X.L. : Endogenous nitro oxide activation protects against cigarette smoking induced apoptosis in endothelial cells.  FEBS Lett.  579: 733-740, 2005.


Oh, K.J., Kalinina, A., Wang, J., Nakayama, K., Nakayama, K.I., Bagchi, S. : The papillomavirus E7 oncoprotein is ubiquitinated by UbcH7 and Cullin1/Skp2 containing E3 ligase. J Virol. 78: 5338-5346, 2004.


Tisdale, E.J., Wang, J., Silver, R.B., Artalejo, R. : Atypical protein kinase C plays a critical role in protein transport from pre-golgi intermediates. . J Biol Chem 278: 38015-38021, 2003.


Wang, J., Sampath, A., Raychaudhuri, P., Bagchi, S. : Both Rb and E7 are regulated by the ubiquitin proteasome pathway in HPV-containing cervical tumor cells.  Oncogene  20: 47040-4749, 2001.


Guang, W., Wang, J., Du, C.S., Liu, T.B., Pan, C.L. : WT1 gene mutation in Wilms' tumor patients  Zhejiang Zhongliu Zazhi (Chinese Cancer J) 4(2): 75-77, 1998.

Wang, J., Du, C.S., Liu, T.B., Pan, C.L. : Mutation of BRCA1 gene in Wilms' tumor.  Chin J Pediatr Surg 19(1): 15-17, 1998.


Guang, W., Wang, J., Du, C.S., Liu, T.B., Pan, C.L. : Detection of p53 tumor suppressor gene mutations in Wilms' tumor.  Aizheng (Cancer) 17(1): 22-26, 1997.

Wang, G.L., Wang, J., Du, C.S., Lin, Q.T. : BRCA1 gene mutation in sporadic breast cancer.  Chin J Med Genet 14(6): 332-336, 1997.


Du, C.S., Chen, L.M., Wang, J. : Expression of human G6PD gene in Ecoli.  Chin J Pathophysiology 11(4): 344-347, 1995.


Wang, J., Du, C.S., Xu, W.M. : Six different G6PD gene point mutations in Chinese population.  Chin J Hematol.  74(1): 35-38, 1994.

Xu, W.M., Wang, J., Du, C.S. : Detection of point mutation in exon 2 of G6PD gene in chinese G6PD variants.  Chin Med Sci J.  9(1): 20-24, 1994.

Xu, W.M., Wang, J., Hua, X.Y., Chen, L.M., Du, C.S. : Use PCR-SSCP for G6PD gene mutation detection.  National Medical Journal of China 74(1): 35-37, 1994.


Wang, J., Du, C.S. : The mechanism of G6PD deficiency related neonatal jaundice: Analysis of erythrocyte anti-oxidative enzyme activities.  Acad. J. SUMS 11: 32-36, 1990.





Wang J. : Molecular Diagnosis of Genetic Disorders. Medical Genetics. (Chapter 12), 2014.


Chin, E.L.H., Zhang, V.W., Wang, J., Wong, L.J.: Next Generation Sequencing   Next Generation Sequencing -Translation to Clinical Diagnostics (Chapter 10), 2013.

Wang, J., Landsverk, L.M : Analytical algorithms for identification of pathogenic variants, Guidelines for interpretation of DNA variants.  Next Generation Sequencing -Translation to Clinical Diagnostics (Chapter 6), 2013.


Posters and Presentations

Invited Lectures


Wang, J. Advanced approaches for comprehensive mtDNA testing of mitochondrial disorders. American College of Medical Genetics conference. Virtual meeting due to COVID. Apr 2021.


Wang, J. "Prenatal diagnosis and genetic counseling". Regional prenatal conference, Ürümqi, China. Jun 2019.

Wang, J. "Understand variants of unknown significance and how to follow up". Pediatric Endocrine conference, Chongqing, China. May 2019.

Wang, J. "Mendelian disorders and diagnostic procedures" (50 min), "Case review and genetic counseling" (50 min), Genetic counseling and data analysis training course, Liuzhou, China. May 5-7, 2019.

Wang, J. "Clinical utility of STAT medical exome in NICU/PICU patients". National Pediatric conference, Beijing, China. Mar 2019.

Wang, J. "Clinical genetics in genomic era" (30 min), "Mitochondrial myopathy" (40 min), Genetic counselor training course, Guangzhou, China. Mar 13-15, 2019.

Awards and Honors

2005, Molecular Surgeon Research Award. Department of Surgery, Baylor College of Medicine
1995, Science and Technology Progress Award, National Education Commission of China
1991, Ministry of Public Health Award, Ministry of Public Health of China
1987, Science and Technology Progress Award, National Education Commission of China
1986, Outstanding Medical Student Award, by Sun Yat-Sen University of Medical Sciences

Editorial and Academic Positions

Academic and Institutional Committees

2021-present, Mitochondrial Disease Nuclear and Mitochondrial Variant Curation Expert Panel

Leadership and Memberships

Memberships in Professional Organizations

2010-present, American College of Medical Genetics and Genomics (FACMG), Fellow
2010-present, American Society of Human Genetics (ASHG)