Renkui Bai, PhD, FACMG

Renkui Bai

Director, Mitochondrial Disorder Testing Services

Renkui Bai is an ABMG Board Certified Clinical Molecular Geneticist and the Director of Mitochondrial Disorder Testing Services at GeneDx. He obtained his MD from Henan Medical University (China), his PhD from Peking University (China) and his Medical Genetics Diploma from the National Human Genome Research Institute (NHGRI), National Institute of Health (NIH). He has over 12 years of experience in molecular diagnosis of mitochondrial disorders and more than 20 related publications. From 2000 to 2005, he was a Post-Doctoral Fellow and worked on genetic testing for mitochondrial and other genetic disorders in the Molecular Diagnostic Laboratory at Georgetown University. From 2003 to 2005, he was also a fellow in the Metropolitan Washington D.C. Medical Genetics-Training Program at NHGRI, NIH. In 2005, he moved to Houston, Texas, where he worked with Dr. Lee-Jun Wong on setting up the Mitochondrial Diagnostic Laboratory of Baylor College of Medicine and developed many new genetic tests for mitochondrial disorders. He joined GeneDx in October 2008 and leads the genetic testing program for mitochondrial disorders, which is dedicated to providing high-throughput and cost-effective tests for the molecular diagnosis of mitochondrial disorders.

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Peer reviewed Research Publications, Selected

  1. Bai RK, Wu SL, Zhu P, Xu YF. Quantitative study of calcitonin gene methylation in myelodysplastic syndromes. Chin J Hematol 1997,18:17-20. [PMID: 15622744]
  2. Bai RK, Wu SL, Zhu P. Quantitative study of calcitonin gene methylation as a indicator for differential diagnosis of refractory anemia and aplastic anemia. (Chinese) J of ClinHematol, 1998,11(4):146-149 [PMID: 11601204]
  3. Wu S, Xie G, Bai R, Wang Y, Zhu P. Semi-quantitative study of calcitonin gene methylation in myelodysplasticsyndrome.Chin Med J (Engl). 1998;111(8):690-3. [PMID: 11245020]
  4. Li GC, Zou DB, Bai RK. The calcitonin gene related peptide and calcitonin gene methylation in myelodysplastic syndromes. Chin J Hematol 1999,20(2):79-81. [PMID: 11601204]
  5. Bai RK, Chen SS, Liu YR, et al. The mechanism of the adhesion defects to fibronectin in K562 cells. Chin Med J 2000;80(6):469-471.
  6. Bai RK, Chen SS, et al. Beta 1 integrin dysfunction of chronic myeloid leukemia cells. Zhongguo Shi Yan Xue Ye XueZaZhi (Chin J ExpHematol) 2000;8(2):85-89. [PMID: 12578692]
  7. Ruan GR, Liu YR, Chen SS, Li JL, Qin YZ, Fu JY, Bai RK. Expression of Vascular Endothelial Growth Factor in the Bone Marrow Cells from Adult Chronic Myelogenous Leukemia. Zhongguo Shi Yan Xue Ye XueZaZhi (Chin J Exp Hematol). 2001 Mar;9(1):5-9. [PMID: 12578635]
  8. Bai RK, Chen SS., Liu YR.,et al. Low concentrations of CGP57148B(STI571) can restore beta 1 integrin mediated inhibition on the proliferation of Ph(+) chronic myeloid leukemia myeloid progenitors. Zhongguo Shi Yan Xue Ye XueZaZhi (ChinJExpHematol), 2001, 9(3):207-211. [PMID: 12578590]
  9. Tan DJ, Bai RK, and Wong LJ. Comprehensive Scanning of Somatic Mitochondrial DNA Mutations in Breast Cancer. Cancer Res 2002 62: 972-976. [PMID:11861366]
  10. Lee-Jun C. Wong, Liang M-H, Kwon H, Bai RK, Alper O, Gropman A. A CF patient with two novel mutations in mitochondrial DNA: mild disease led to delayed diagnosis of both disorders. Am J Med Genet 2002,113:59-64. [PMID:12400067]
  11. Lee-Jun C. Wong, M-H Liang, H Kwon, J Park, R. Bai, DJ Tan. Comprehensive scanning of the entire mitochondrial genome for mutations. ClinChem, 2002;48:1901-1912. [PMID: 12406974]
  12. Ruan GR, Liu YR, Chen SS, Yu H, Chang Y, Bai RK, Fu JY. [Restoring beta1 integrin activation function in K562 cells transfected with antisense VEGF121cDNA] Zhongguo Shi Yan Xue Ye XueZaZhi (Chin J ExpHematol). 2003 Jun;11(3):235-7. [PMID: 12844402]
  13. Lee-Jun C. Wong, Cherng-LihPerng, Chang-Hung Hsu, Ren-Kui Bai, Susan Schelley, Georgirene D. Vladutiu, Hannes Vogel, Gregory M. Enns. Compensatory amplification of mtDNA in a patient with a novel deletion/duplication and high mutant load. J Med Genet. 2003 Nov;40(11):e125 [PMID: 14627692]
  14. Wong LJ, Tan DJ, Bai RK, Yeh KT, Chang J. Molecular alterations in mitochondrial DNA of hepatocellular carcinomas: is there a correlation with clinicopathological profile? J Med Genet. 2004 May;41(5):E65 [PMID: 15121793]
  15. Bai RK, Wong LJ. Detection and Quantification of Heteroplasmic Mutant Mitochondrial DNA by Real-Time Amplification Refractory Mutation System Quantitative PCR Analysis: A Single-Step Approach. Clin Chem. 2004 Jun;50(6):996-1001. [PMID: 15073091]
  16. Bai RK, Perng CL, Hsu CH, Wong LJ. Quantitative PCR analysis of mitochondrial DNA content in patients with mitochondrial disease. Ann N Y Acad Sci. 2004 Apr;1011:304-9. [PMID: 15126306]
  17. Kwon H, Tan DJ, Bai RK, Wong LJ. Enhanced detection of deleterious mutations by TTGE analysis of mother and child’s DNA side by side. Ann N Y Acad Sci.2004 Apr;1011:299-303.[ PMID: 15126305]
  18. Yang Z, Asico LD, Yu P, Wang Z, Jones JE, Bai RK, Sibley DR, Felder RA, Jose PA. D5 dopamine receptor regulation of phospholipase D. Am J Physiol Heart Circ Physiol. 2005 Jan;288(1):H55-61. [PMID: 15598876]
  19. Yin Y, Bai R, Russell RG, Beildeck ME, Xie Z, Kopelovich L, Glazer RI. Characterization of Medroxyprogesterone and DMBA-induced Multilineage Mammary Tumors by Gene Expression Profiling. MolCarcinog. 2005 Jun 5; [PMID: 15937957]
  20. Yin Y, Russell RG, Dettin LE, Bai R, Wei ZL, Kozikowski AP, Kopleovich L, Glazer RI. Peroxisome proliferator-activated receptor delta and gamma agonists differentially alter tumor differentiation and progression during mammary carcinogenesis. Cancer Res. 2005 May 1;65(9):3950-7 [PMID: 15867396]
  21. Grace McComsey, Ren-Kui Bai, Jen-FueMaa, Daniel Seekins, and Lee-Jun Wong. Extensive investigation of mitochondrial DNA genome in treated HIV infected subjects: Beyond mtDNA depletion. J Acquir Immune DeficSyndr. 2005, Jun 1;39(2):181-8. (Co-first author) [PMID: 15905734]
  22. Hsu CH, Kwon H, Perng CL, Bai RK, Dai P, Wong LJ. Hearing Loss in Mitochondrial Disorders. Ann N Y Acad Sci. 2005 May;1042:36-47. [PMID:15965043]
  23. Ren-Kui Bai, Lee-Jun Wong. Simultaneous Detection and Quantification of Mitochondrial DNA Deletion(s), Depletion, and Over-Replication in Patients with Mitochondrial Disease. J MolDiagn. 2005 Nov;7(5):613-22. [PMID: 16258160]
  24. Enns GM, Bai RK, Beck AE, Wong LJ. Molecular-clinical correlations in a family with variable tissue mitochondrial DNA T8993G mutant load. Mol Genet Metab. 2006 Mar 17 (Co-first author) [PMID: 16546428]
  25. Xie Z, Yuan H, Yin Y, Zeng X, Bai R, Glazer RI. 3-phosphoinositide-dependent protein kinase-1 (PDK1) promotes invasion and activation of matrix metalloproteinases. BMC Cancer. 2006 Mar 21;6:77. [PMID: 16551362]
  26. Tan DJ, Chang J, Liu LL, Bai RK, Wang YF, Yeh KT, Wong LJ. Significance of somatic mutations and content alteration of mitochondrial DNA in esophageal cancer. BMC Cancer. 2006 Apr 18;6:93. [PMID: 16620376]
  27. Gambello MJ, Bai RK, Chen TJ, Dimachkie M, Wong LJ. Exercise intolerance associated with a novel 8300t>C mutation in mitochondrial transfer RNA(lys). Muscle Nerve. 2006 Oct;34(4):437-43. [PMID: 16810691]
  28. Wong LJ, Yim D, Bai RK, Kwon H, Vacek MM, Zane J, Hoppel CL, Kerr DS. A novel mutation in the mitochondrial tRNA(Ser(AGY)) gene associated with mitochondrial myopathy, encephalopathy, and complex I deficiency. J Med Genet. 2006 Sep;43(9):e46. [PMID: 16950817]
  29. Annette Feigenbaum, Ren-Kui Bai, Emily S Doherty, Haeyoung Kwon, Duanjun Tan, Avril Sloane, Ernest Cutz, Brian H Robinson, and Lee-Jun C. Wong. Novel Mitochondrial DNA Mutations Associated with Myopathy, Cardiomyopathy, Renal Failure, and Deafness. Am J Med Genet A. 2006 Oct 15;140(20):2216-22. [PMID:16955414]
  30. Fernando Scaglia, Chang-Hung Hsu, Haeyoung Kwon, Ren-Kui Bai,Cherng-Lih Perng, Hua-Mei Chang, E. O’Brian Smith, David A.H. Whiteman, Annette Feigenbaum, Andrea Gropman, Lee-Jun C. Wong. Molecular Bases of Hearing Loss in Multisystemic Mitochondrial Cytopathy. Genet Med. 2006 Oct;8(10):641-52. [PMID: 17079881]
  31. Bai RK, Leal SM, Covarrubias D, Liu A, Wong LJ. Mitochondrial genetic background modifies breast cancer risk. Cancer Res. 2007 May 15;67(10):4687-94. [PMID: 17510395]
  32. Ma Y. Bai R.Trieu RB and Wong LJ. Characterization of Mitochondrial Functions in Human Breast Cancer Cell Lines and TransmitochondrialCybrids. Biochim BiophysActa. 2010 Jan;1797(1):29-37. [PMID: 19647716]
  33. Juo SH, Lu MY, Bai RK, Liao YC, Trieu RB, Yu ML, Wong LJ. A common mitochondrial polymorphism 10398A>G is associated metabolic syndrome in a Chinese population. Mitochondrion. 2010 Jan 11. [PMID: 20067846]
  34. Bai RK, Chang J, Yeh KT, Lou MA, Lu JF, Tan DJ, Liu H, Wong LJ. Mitochondrial  DNA content varies with pathological characteristics of breast cancer. J Oncol. 2011;2011:496189. [PMID: 22028711]
  35. Lu MY, Huang JF, Liao YC, Bai RK, Trieu RB, Chuang WL, Yu ML, Juo SH, Wong LJ. Mitochondrial polymorphism 12361A>G is associated with nonalcoholic fatty liver disease. Transl Res. 2012 Jan;159(1):58-9. [PMID: 22153811]


  1. Renkui Bai, PrachiKothiyal, Sharon Suchy, John Compton, Sherri Bale. Are Pathogenic Mitochondrial DNA Missense Mutations Predictable? 2010 UMDF meeting
  2. R. Bai, S. Sucky, J. Higgs, G. Richard, J. Compton, S. Bale. The Prevalence and Haplogroup-Specific Distribution of Homoplasmic/Near Homoplasmic Pathogenic Mitochondrial DNA Point Mutations in the General Population. 2010 ASHG meeting
  3. R. Bai, M. saifi, S. Suchy, J. Higgs, M. Knight, S. Warren, J. Compton, F. Gibellini, S. Buchholz, S. Benhamed, B. Boggs, C. Chinault, Y. Shevchenko, G. Richard, S. Bale, J. Compton   Application of next-generation sequencing in molecular diagnosis of mitochondrial disorders. 2011 ASHG/ICHG meeting
  4. Renkui Bai, Jaimie Higgs, Sharon Suchy, Mustafa Saifi, Melanie Knight, Sabrina Buchholz, Sonia Benhamed1, Dolores Arjona1, Barbara Boggs, Craig Chinault, Yuriy Shevchenko, NizarSmaoui, Gabriele Richard, John Compton, Sumit Parikh, MarkTarnopolsky,Wendy Chung, Sherri Bale.  Comprehensive Analysis of Entire Mitochondrial Genome by Long-Range PCR and Next Generation Sequencing for the Diagnosis of Mitochondrial Disorders: Yield of 216 Cases 2012 UMDF meeting (Platform presentation)
  5. Renkui Bai, Jaimie Higgs, Sharon Suchy, Mustafa Saifi, Melanie Knight, Federica Gibellini, Sabrina Buchholz, Sonia Benhamed, Dolores Arjona, Barbara Boggs, CraigChinault, Yuriy Shevchenko, NizarSmaoui, Gabriele Richard, John Compton, Sherri Bale,Sumit Parikh, William J. Rhead, David Dimmock, Susan Sparks, Adeline Vanderver, Natalie S. Hauser, Jaya Ganesh, Marni J. Falk. PCR-Based Target Sequence Enrichment and Next Generation Sequencing of 24 Nuclear Genes for the Diagnosis of Mitochondrial Disorders: Yield of 262 Cases. 2012 UMDF meeting (Poster presentation)
  6. R. Bai, J. Higgs, S.F. Suchy, S. Buchholz, D. Arjona, B. Boggs, C. Chinault, N. Smaoui, S. Benhamed, J. Compton, Y. Shevchenko, G. Richard, S. Bale, F.D. Kendall, S. Parikh, A.L. Gropman, W. Chung, A. Goldstein, S.E. Palmer, J.A. Panzer, S.W. Yum, M.J. Falk. Comprehensive analysis of 101 nuclear genes for molecular diagnosis of mitochondrial disorders. 2012 ASHG meeting (Platform presentation)

Book Chapters

  1. Wong LJC, Bai RK. “Real-time quantitative PCR analysis of mitochondrial DNA point mutation” in “Methods in Molecular Biology”, Humana Press, New Jersy. 2006;335:187-200.
  2. Renkui Bai andJaime Higgs, for the chapter of “Mitochondrial Disorders”  inMolecular Pathology in Clinical Practice, 2nd Edition, Debra G.B. Leonard, MD, PhD, Editor, Elaine Lyon, Section Editor, Genetics. Springer Publishing, in press

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