Jian Zhao

Jian Zhao, FACMG, PHD

Languages spoken: English

Academic Information

Departments Primary - Pathology

Academic Office Information

u6025675@utah.edu

Board Certification

  • American Board of Medical Genetics and Genomics (Laboratory Genetics and Genomics)

Education History

Undergraduate Shanghai Jiao Tong University
 BS
Doctoral Training Shanghai Jiao Tong University
 PhD
Fellowship ARUP Laboratories, University of Utah School of Medicine
 Fellow

Selected Publications

Journal Article

  1. Geng L, Zhao J, Deng Y, Molano I, Xu X, Xu L, Ruiz P, Li Q, Feng X, Zhang M, Tan W, Kamen DL, Bae SC, Gilkeson GS, Sun L, Tsao BP (2021). Human SLE variant NCF1-R90H promotes kidney damage and murine lupus through enhanced Tfh2 responses induced by defective efferocytosis of macrophages. Ann Rheum Dis.
  2. Deng Y, Zhao J, Sakurai D, Sestak AL, Osadchiy V, Langefeld CD, Kaufman KM, Kelly JA, James JA, Petri MA, Bae SC, Alarcón-Riquelme ME, Alarcón GS, Anaya JM, Criswell LA, Freedman BI, Kamen DL, Gilkeson GS, Jacob CO, Merrill JT, Gaffney PM, Sivils KM, Niewold TB, Ramsey-Goldman R, Reveille JD, Scofield RH, Stevens AM, Boackle SA, Vilá LM, Sohn II, Lee S, Chang DM, Song YW, Vyse TJ, Harley JB, Brown EE, Edberg JC, Kimberly RP, Cantor RM, Hahn BH, Grossman JM, Tsao BP (2016). Decreased SMG7 expression associates with lupus-risk variants and elevated antinuclear antibody production. Ann Rheum Dis, 75(11), 2007-2013.
  3. Zhao J, Giles BM, Taylor RL, Yette GA, Lough KM, Ng HL, Abraham LJ, Wu H, Kelly JA, Glenn SB, Adler AJ, Williams AH, Comeau ME, Ziegler JT, Marion M, Alarcón-Riquelme ME, BIOLUPUS and GENLES Networks., Alarcón GS, Anaya JM, Bae SC, Kim D, Lee HS, Criswell LA, Freedman BI, Gilkeson GS, Guthridge JM, Jacob CO, James JA, Kamen DL, Merrill JT, Sivils KM, Niewold TB, Petri MA, Ramsey-Goldman R, Reveille JD, Scofield RH, Stevens AM, Vilá LM, Vyse TJ, Kaufman KM, Harley JB, Langefeld CD, Gaffney PM, Brown EE, Edberg JC, Kimberly RP, Ulgiati D, Tsao BP, Boackle SA (2016). Preferential association of a functional variant in complement receptor 2 with antibodies to double-stranded DNA. Ann Rheum Dis, 75(1), 242-52.
  4. Kaufman KM, Zhao J, Kelly JA, Hughes T, Adler A, Sanchez E, Ojwang JO, Langefeld CD, Ziegler JT, Williams AH, Comeau ME, Marion MC, Glenn SB, Cantor RM, Grossman JM, Hahn BH, Song YW, Yu CY, James JA, Guthridge JM, Brown EE, Alarcón GS, Kimberly RP, Edberg JC, Ramsey-Goldman R, Petri MA, Reveille JD, Vilá LM, Anaya JM, Boackle SA, Stevens AM, Freedman BI, Criswell LA, Pons Estel BA, Argentine Collaborative Group., Lee JH, Lee JS, Chang DM, Scofield RH, Gilkeson GS, Merrill JT, Niewold TB, Vyse TJ, Bae SC, Alarcón-Riquelme ME, BIOLUPUS network., Jacob CO, Moser Sivils K, Gaffney PM, Harley JB, Sawalha AH, Tsao BP (2013). Fine mapping of Xq28: both MECP2 and IRAK1 contribute to risk for systemic lupus erythematosus in multiple ancestral groups. Ann Rheum Dis, 72(3), 437-44.
  5. Tan W, Sunahori K, Zhao J, Deng Y, Kaufman KM, Kelly JA, Langefeld CD, Williams AH, Comeau ME, Ziegler JT, Marion MC, Bae SC, Lee JH, Lee JS, Chang DM, Song YW, Yu CY, Kimberly RP, Edberg JC, Brown EE, Petri MA, Ramsey-Goldman R, Vilá LM, Reveille JD, Alarcón-Riquelme ME, Harley JB, Boackle SA, Stevens AM, Scofield RH, Merrill JT, Freedman BI, Anaya JM, Criswell LA, Jacob CO, Vyse TJ, Niewold TB, Gaffney PM, Moser KL, Gilkeson GS, Kamen DL, James JA, Grossman JM, Hahn BH, Tsokos GC, Tsao BP, Alarcón GS, BIOLUPUS Network., GENLES Network. (2011). Association of PPP2CA polymorphisms with systemic lupus erythematosus susceptibility in multiple ethnic groups. Arthritis Rheum, 63(9), 2755-63.
  6. Fu Q, Zhao J, Qian X, Wong JL, Kaufman KM, Yu CY, Hwee Siew Howe., Tan Tock Seng Hospital Lupus Study Group., Mok MY, Harley JB, Guthridge JM, Song YW, Cho SK, Bae SC, Grossman JM, Hahn BH, Arnett FC, Shen N, Tsao BP (2011). Association of a functional IRF7 variant with systemic lupus erythematosus. Arthritis Rheum, 63(3), 749-54.
  7. Tan W, Wu H, Zhao J, Derber LA, Lee DM, Shadick NA, Conn DL, Smith EA, Gersuk VH, Nepom GT, Moreland LW, Furst DE, Thompson SD, Jonas BL, Holers VM, Glass DN, Chen PP, Bridges SL Jr, Weinblatt ME, Paulus HE, Tsao BP (2010). A functional RANKL polymorphism associated with younger age at onset of rheumatoid arthritis. Arthritis Rheum, 62(10), 2864-75.
  8. Kaiser R, Taylor KE, Deng Y, Zhao J, Li Y, Nititham J, Chang M, Catanese J, Begovich AB, Brown EE, Edberg JC, McGwin G, Alarcón GS, Ramsey-Goldman R, Reveille JD, Vila LM, Petri M, Kimberly RP, Feng X, Sun L, Shen N, Li W, Lu JX, Wakeland EK, Li QZ, Yang W, Lau YL, Liu FL, Chang DM, Yu CY, Song YW, Tsao BP, Criswell LA, Hwee Siew Howe and the Tan Tock Seng Hospital Systemic Lupus Erythematosus Study Group. (2013). Brief Report: Single-nucleotide polymorphisms in VKORC1 are risk factors for systemic lupus erythematosus in Asians. Arthritis Rheum, 65(1), 211-5.
  9. Zhao J, Ma J, Deng Y, Kelly JA, Kim K, Bang SY, Lee HS, Li QZ, Wakeland EK, Qiu R, Liu M, Guo J, Li Z, Tan W, Rasmussen A, Lessard CJ, Sivils KL, Hahn BH, Grossman JM, Kamen DL, Gilkeson GS, Bae SC, Gaffney PM, Shen N, Tsao B (2017). A missense variant in NCF1 is associated with susceptibility to multiple autoimmune diseases. Nature genetics, 49(3), 433-437.
  10. Shen N, Fu Q, Deng Y, Qian X, Zhao J, Kaufman KM, Wu YL, Yu CY, Tang Y, Chen JY, Yang W, Wong M, Kawasaki A, Tsuchiya N, Sumida T, Kawaguchi Y, Howe HS, Mok MY, Bang SY, Liu FL, Chang DM, Takasaki Y, Hashimoto H, Harley JB, Guthridge JM, Grossman JM, Cantor RM, Song YW, Bae SC, Chen S, Hahn BH, Lau YL, Tsao B (2010). Sex-specific association of X-linked Toll-like receptor 7 (TLR7) with male systemic lupus erythematosus. Proceedings of the National Academy of Sciences of the United States of America, 107(36), 15838-43.
  11. Zhao J, Wu H, Langefeld CD, Kaufman KM, Kelly JA, Bae SC, Marta E. Alarcón-Riquelme for the BIOLUPUS and GENLES networks., Alarcón GS, Anaya JM, Criswell LA, Freedman BI, Kamen DL, Gilkeson GS, Jacob CO, James JA, Merrill JT, Gaffney PM, Sivils KM, Niewold TB, Petri MA, Song ST, Jeong HJ, Ramsey-Goldman R, Reveille JD, Scofield RH, Stevens AM, Boackle SA, Vilá LM, Chang DM, Song YW, Vyse TJ, Harley JB, Brown EE, Edberg JC, Kimberly RP, Hahn BH, Grossman JM, Tsao BP, La Cava (2015). Genetic associations of leptin-related polymorphisms with systemic lupus erythematosus. Clinical immunology (Orlando, Fla.), 161(2), 157-62.
  12. Douglas KB, Windels DC, Zhao J, Gadeliya AV, Wu H, Kaufman KM, Harley JB, Merrill J, Kimberly RP, Alarcón GS, Brown EE, Edberg JC, Ramsey-Goldman R, Petri M, Reveille JD, Vilá LM, Gaffney PM, James JA, Moser KL, Alarcón-Riquelme ME, Vyse TJ, Gilkeson GS, Jacob CO, Ziegler JT, Langefeld CD, Ulgiati D, Tsao BP, Boackle S (2009). Complement receptor 2 polymorphisms associated with systemic lupus erythematosus modulate alternative splicing. Genes and immunity, 10(5), 457-69.
  13. Sakurai D, Zhao J, Deng Y, Kelly JA, Brown EE, Harley JB, Bae SC, Alarc'n-Riquelme ME, BIOLUPUS and GENLES networks., Edberg JC, Kimberly RP, Ramsey-Goldman R, Petri MA, Reveille JD, Vilá LM, Alarcón GS, Kaufman KM, Vyse TJ, Jacob CO, Gaffney PM, Sivils KM, James JA, Kamen DL, Gilkeson GS, Niewold TB, Merrill JT, Scofield RH, Criswell LA, Stevens AM, Boackle SA, Kim JH, Choi J, Pons-Estel BA, Argentine Collaborative Group., Freedman BI, Anaya JM, Martin J, Yu CY, Chang DM, Song YW, Langefeld CD, Chen W, Grossman JM, Cantor RM, Hahn BH, Tsao B (2013). Preferential binding to Elk-1 by SLE-associated IL10 risk allele upregulates IL10 expression. PLoS genetics, 9(10), e1003870.
  14. Deng Y, Zhao J, Sakurai D, Kaufman KM, Edberg JC, Kimberly RP, Kamen DL, Gilkeson GS, Jacob CO, Scofield RH, Langefeld CD, Kelly JA, Ramsey-Goldman R, Petri MA, Reveille JD, Vilá LM, Alarcón GS, Vyse TJ, Pons-Estel BA, Argentine Collaborative Group., Freedman BI, Gaffney PM, Sivils KM, James JA, Gregersen PK, Anaya JM, Niewold TB, Merrill JT, Criswell LA, Stevens AM, Boackle SA, Cantor RM, Chen W, Grossman JM, Hahn BH, Harley JB, Alarc'n-Riquelme ME, BIOLUPUS and GENLES networks., Brown EE, Tsao B (2013). MicroRNA-3148 modulates allelic expression of toll-like receptor 7 variant associated with systemic lupus erythematosus. PLoS genetics, 9(2), e1003336.
  15. Zhao J, Wu H, Khosravi M, Cui H, Qian X, Kelly JA, Kaufman KM, Langefeld CD, Williams AH, Comeau ME, Ziegler JT, Marion MC, Adler A, Glenn SB, Alarcón-Riquelme ME, BIOLUPUS Network., GENLES Network., Pons-Estel BA, Harley JB, Bae SC, Bang SY, Cho SK, Jacob CO, Vyse TJ, Niewold TB, Gaffney PM, Moser KL, Kimberly RP, Edberg JC, Brown EE, Alarcon GS, Petri MA, Ramsey-Goldman R, Vilá LM, Reveille JD, James JA, Gilkeson GS, Kamen DL, Freedman BI, Anaya JM, Merrill JT, Criswell LA, Scofield RH, Stevens AM, Guthridge JM, Chang DM, Song YW, Park JA, Lee EY, Boackle SA, Grossman JM, Hahn BH, Goodship TH, Cantor RM, Yu CY, Shen N, Tsao B (2011). Association of genetic variants in complement factor H and factor H-related genes with systemic lupus erythematosus susceptibility. PLoS genetics, 7(5), e1002079.
  16. Lessard CJ, Sajuthi S, Zhao J, Kim K, Ice JA, Li H, Ainsworth H, Rasmussen A, Kelly JA, Marion M, Bang SY, Joo YB, Choi J, Lee HS, Kang YM, Suh CH, Chung WT, Lee SK, Choe JY, Shim SC, Oh JH, Kim YJ, Han BG, Shen N, Howe HS, Wakeland EK, Li QZ, Song YW, Gaffney PM, Alarcón-Riquelme ME, Criswell LA, Jacob CO, Kimberly RP, Vyse TJ, Harley JB, Sivils KL, Bae SC, Langefeld CD, Tsao B (2016). Identification of a Systemic Lupus Erythematosus Risk Locus Spanning ATG16L2, FCHSD2, and P2RY2 in Koreans. Arthritis & rheumatology (Hoboken, N.J.), 68(5), 1197-1209.
  17. Reiley J, Botas P, Miller CE, Zhao J, Malone Jenkins S, Best H, Grubb PH, Mao R, Isla J, Brunelli (2023). Open-Source Artificial Intelligence System Supports Diagnosis of Mendelian Diseases in Acutely Ill Infants. Children (Basel, Switzerland), 10(6),
  18. Yuan X, Qin X, Takemoto K, Zhao J, Sanderson M, Xu X, Zhang Y, Helke KL, Jacobs Wolf B, Guthridge JM, James JA, Zhou X, Assassi S, Feghali-Bostwick C, Wang D, Sun L, Tsao B (2025). Human hypofunctional NCF1 variants promote pulmonary fibrosis in the bleomycin-induced mouse model and patients with systemic sclerosis via expansion of SPP1(+) monocytes-derived macrophages. Annals of the rheumatic diseases, 84(2), 294-306.
  19. Wen T, Shayota BJ, Wallace L, Mani C, Davis N, Zhao (2024). A Case Report on 13q12.3 Microdeletion Syndrome Caused by HMGB1 Haploinsufficiency. Case reports in genetics, 2024, 1912620.
  20. Zhao J, Longo N, Lewis RG, Nicholas TJ, Boyden SE, Andrews A, Larson A, Undiagnosed Diseases Network, Bayrak-Toydemir P, Botto LD, Mao (2024). Novel molecular mechanism in Malan syndrome uncovered through genome sequencing reanalysis, exon-level Array, and RNA sequencing. American journal of medical genetics. Part A, 194(5), e63516.
  21. Xu L, Zhao J, Sun Q, Xu X, Wang L, Liu T, Wu Y, Zhu J, Geng L, Deng Y, Awgulewitsch A, Kamen DL, Oates JC, Raj P, Wakeland EK, Scofield RH, Guthridge JM, James JA, Hahn BH, McCurdy DK, Wang F, Zhang M, Tan W, Gilkeson GS, Tsao B (2022). Loss-of-function variants in SAT1 cause X-linked childhood-onset systemic lupus erythematosus. Annals of the rheumatic diseases, 81(12), 1712-1721.
  22. Taliercio V, Zhao J, Boyden SE, Mao R, Bayrak-Toydemir P, Pflaum A, Palumbos J, Andrews A, Baldwin EE, Welt C, Fait M, Undiagnosed Diseases Network, Botto LD, Viskochil (2025). Worth the Effort: Lessons for Discovery and Care From an Unusual Case of Gorlin Syndrome. American journal of medical genetics. Part A, 197(9), e64108.
  23. Wilcock DM, Zhao J, Gulbahce H (2025). Resolving HER2 status in breast carcinoma patients with complete deletion of CEP17 in fluorescence in-situ hybridization assays. Cancer genetics, 296-297, 196-199.
  24. Malone Jenkins S, Palmquist RN, Moore B, Boyden SE, Nicholas TJ, Bayrak-Toydemir P, Mao R, Farrell JAR, Holt CH, Rynearson SG, Solorzano CM, Ward A, Best DH, Al-Sweel N, Bentley DL, Brunelli L, Chow CY, Close DW, Cormier MJ, Deshotel MJ, Durtschi J, Eide EJ, Floyd L, Fredrickson EK, Fulmer ML, Hernandez EJ, Kapron AL, Karren MA, Lewis RG, Miller CE, Murtaugh LC, Nicholson KE, Noble K, O'Fallon BD, O'Shea JM, Pattison DC, Pedersen BS, Petersen BJ, Peterson BD, Pizzo L, Reynolds HM, Rindler P, Torr CB, Wen T, Yost HJ, Zhao J, Yandell M, Marth GT, Quinlan AR, Carey JC, Shayota BJ, Tristani-Firouzi M, Bonkowsky J (2025). The Utah NeoSeq Project: a collaborative multidisciplinary program to facilitate genomic diagnostics in the neonatal intensive care unit. NPJ genomic medicine, 10(1), 26.
  25. Lewis RG, O'Shea JM, Pizzo L, Wen T, Fulmer ML, Zhao J, Verheijen J, Zhang C, Velinder M, Nicholas TJ, Boyden SE, Ward A, Baldwin EE, Andrews A, Ruiz JH, Marchetti M, Viskochil D, Carey JC, Bleyl SB, Butterfield RJ, Taliercio V, Botto LD, Mao R, Bayrak-Toydemir P, Undiagnosed Diseases Networ (2025). RNA sequencing provides functional insights and diagnostic resolution in previously unsolved rare disease cases. BMC medical genomics, 18(1), 182.

Review

  1. Lu X, Andersen EF, Banerjee R, Eno CC, Gonzales PR, Kumar S, Lager AM, Miron PM, Pugh T, Quintero-Rivera F, Thurston VC, Wolff DJ, Zhao J, Fonseca R, Baughn L (2025). Guidelines for the testing and reporting of cytogenetic results for risk stratification of multiple myeloma: a report of the Cancer Genomics Consortium Plasma Cell Neoplasm Working Group. Blood cancer journal, 15(1), 86.