Jing Wang, MD, DABMGG, FACMG, ASCP (MB)
Associate Professor of Clinical Pathology and Laboratory Medicine
Department: Pathology and Laboratory Medicine
Contact information
ARC Suite 716
3615 Civic Center Blvd
Philadelphia, PA 19104-4318
3615 Civic Center Blvd
Philadelphia, PA 19104-4318
Office: 2676933441
Education:
MD
Sun Yat-sen University of Medical Sciences, China, 1986.
M.Sc. (Medical Genetics)
Sun Yat-sen University of Medical Sciences, China, 1989.
Permanent linkMD
Sun Yat-sen University of Medical Sciences, China, 1986.
M.Sc. (Medical Genetics)
Sun Yat-sen University of Medical Sciences, China, 1989.
Description of Clinical Expertise
Dr. Wang’s clinical interests have been centered around pediatric genetic disorders and mitochondrial disorders. Collaborating with her colleagues, she developed and validated a highly sensitive and accurate clinical testing for mtDNA analysis, enabling the identification of the genetic cause of mitochondrial disorders caused by mtDNA defects. Dr. Wang is a member of the ClinGen Mitochondrial Disease Gene Curation Expert Panel (GCEP) and Variant Curation Expert Panel (VCEP). Additionally, Dr. Wang has actively participated in the clinical application of exome and genome sequencing for patients with neurodevelopmental disorders, epilepsy, and other rare undiagnosed genetic disorders.Selected Publications
Wang J, Peterson J, Santos JD, Chan AJS, Diaz-Miranda MA, Goldstein A, Bogush A, McCormick E, Muraresku CC, Dulik M, Wallace D, Xiao R, Falk MJ, Viaene AN, Zarazuela Zolkipli-Cunningham Z: Interpreting the clinical significance of multiple large-scale mitochondrial DNA deletions (MLSMD) in skeletal muscle tissue in the diagnostic evaluation of primary mitochondrial disease. Frontiers in Pharmacology April 2025.Ganetzky R, Stanley KD, MacMullen LE, George-Sankoh I, Wang J, Goldstein A, Xiao R, Falk MJ: Recognizing the evolution of clinical syndrome spectrum progression in individuals with single large-scale mitochondrial DNA deletion syndromes (SLSMDS). Genet Med February 2025.
Burrill N; Crane H; Khalek N; Soni S; K. Wild T; Skraban C; McManus M; Szigety K; Oliver ER; Fisher A; Wang J; Moldenhauer JS.: Two Prenatal Presentations of Baraitser-Winter Syndrome: Expansion of the Prenatal Phenotype of this New Multiple Congenital Anomaly Syndrome. Am J Med Genet A. Hoboken, N.J. : Wiley-Liss, c2003- 194(10): No page number, October 2024.
Gill EL, Wang J, Viaene AN, Master SR, Ganetzky RD.: Methodologies in Mitochondrial Testing: Diagnosing a Primary Mitochondrial Respiratory Chain Disorder Clinical Chemistry Oxford University Press, 69(6): 564-584, June 2023.
Chan A, Wang J: Mitochondrial DNA deletion or duplication? Identification of a copy number variant in mitochondrial DNA using next generation sequencing. American College of Medical Genetics conference, Salt Lake City, UT Not available(Not available), March 2023 Notes: Oral presentation.
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, January 2022.
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: Immune Dysregulation in Human ITCH Deficiency Successfully Treated with Hematopoietic Cell Transplantation. J Allergy Clin Immunol Pract 9(7): 2885-2893, July 2021.
wang J: Advanced approaches for comprehensive mtDNA testing of mitochondrial disorders. American College of Medical Genetics conference, virtual meeting Not available(Not available): No page number, April 2021 Notes: Platform presentation.
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.
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.