Molecular profiling of gynecologic cancers for treatment and management of disease - demonstrating clinical significance using the AMP/ASCO/CAP guidelines for interpretation and reporting of somatic variants. Nie Q, Omerza G, Chandok H, Prego M, Hsiao MC, Meyers B, Hesse A, Uvalic J, Soucy M, Bergeron D, Peracchio M, Burns S, Kelly K, Rowe S, Rueter J, Reddi HV. Cancer Genet. 2020 Jan 14. pii: S2210-7762(19)30379-5. doi: 10.1016/j.cancergen.2019.11.008. [Epub ahead of print]. PMID: 31992506.

Molecular profiling of CNS tumors for the treatment and management of disease. Nie Q, Hsiao MC, Chandok H, Rowe S, Prego M, Meyers B, Omerza G, Hesse A, Uvalic J, Soucy M, Bergeron D, Peracchio M, Burns S, Kelly K, Rueter J, Reddi HV. Cancer Genet. 2020 Jan 14. pii: S2210-7762(19)30379-5. doi: 10.1016/j.cancergen.2019.11.008. [Epub ahead of print]. PMID: 31992506.

Functional interrogation of Lynch syndrome‐associated MSH2 missense variants via CRISPR‐Cas9 gene editing in human embryonic stem cells. Rath A, Mishra A, Ferreira VD, Hu C, Omerza G, Kelly K, Hesse A, Reddi HV, Grady JP, Heinen CD. Hum Mutat. 2019 Nov;40(11):2044-2056. doi: 10.1002/humu.23848. Epub 2019 Aug 17. 

Selvam, P., Hsiao, M., Omerza, G. et al. Mutation Yield of a Custom 212-Gene Next-Generation Sequencing Panel for Solid Tumors: Clinical Experience of the First 260 Cases Tested Using the JAX ActionSeq™ Assay. Mol Diagn Ther 24, 103–111 (2020).

Evaluating gene fusions in solid tumors - Clinical experience using an RNA based 53 gene next-generation sequencing panel. Selvam P, Kelly K, Hesse AN, Spitzer D, Reddi HV. Cancer Genet. 2019 Apr;233-234:32-42. doi: 10.1016/j.cancergen.2019.03.001. Epub 2019 Mar 7.

Technical and Regulatory Considerations for Taking Liquid Biopsy to the Clinic: Validation of the JAX PlasmaMonitorTM Assay. Biomark Insights. 2019;14:1177271919826545. Published 2019 Feb 1. doi:10.1177/1177271919826545


Marlow LA, Rohl SD, Miller JL, Knauf JA, Fagin JA, Ryder M, Milosevic D, Netzel BC, Grebe SK, Reddi HV, Smallridge RC, Copland JA. Methodology, Criteria, and Characterization of Patient-Matched Thyroid Cell Lines and Patient-Derived Tumor Xenografts. 2018. J Clin Endocrinol Metab. doi: 10.1210/jc.2017-01845. [Epub ahead of print]

Hesse A, Bevilacqua J, Shankar K, Reddi HV*. Retrospective Genotype-Phenotype Analysis in a 305 Patient Cohort referred for testing of a Targeted Epilepsy Panel. 2018. Epilepsy Res.

Wilkins-Haug L, Zhang C, Cerveira E, Ryan M, Mil-homens A, Zhu Q,  Reddi HV, Lee C, Bianchi DW. 2018. Biological explanations for discordant noninvasive prenatal test results: Preliminary data and lessons learned. Prenatal Diag. [Accepted for publication; DOI: 10.1002/pd.5260].

Hesse A, Fabricius W, Thomas CA, Gaindh R, Christman R, SelvamP, Prego M, Lewis G, Uvalic J, Bergeron D, Burns S, Sisson B, Kelly K, Rueter J, Reddi HV*. 2018. Genomic Profiling of Two Histologically Distinct Rare Urothelial Cancers in a Clinical Setting to Identify Potential Therapeutic Options for Treatment and Management of Disease.  Case Rep Oncol. 11:196-205.

Bridgette A Sisson, Jasmina Uvalic, Kevin Kelly, Pavalan Selvam, Andrew N Hesse, Guruprasad Ananda, Harshpreet Chandok, Daniel Bergeron, Lauren Holinka and Honey V Reddi. Technical and Regulatory Considerations for Taking Liquid Biopsy to the Clinic: Validation of the JAX PlasmaMonitor™ Assay 


VanderLaan PA, Rangachari D, Mockus S, Spotlow V, Reddi HV, Malcolm J, Huberman MS, Joseph LJ, Kobayashi SS, Costa DB. Mutations in TP53, PIK3CA, PTEN and other genes in EGFR mutated lung cancers: Correlation with clinical outcomes. 2017. Lung Cancer 106: 17–21.

Bevilacqua J, Hesse A, Cormier B. Davey J, Patel D, Shankar K, Reddi HV. Clinical Utility of a Targeted 377 Gene Epilepsy NGS Panel – Retrospective analysis of ~300 cases. 2017. Journal of Genetics. 96(4):681-685.


Cho SY, Kang W, Han JY, Min S, Kang J, Lee A, Kwon JY, Lee C, Park H (2016): An Integrative Approach to Precision Cancer Medicine Using Patient-Derived Xenografts. Mol Cells. 39(2):77-86.

K. Kelly, A. Ras, S. Helm, V. Spotlow & H. Reddi. A Comprehensive Evaluation of Solid Tumor Analysis in the Clinical Space. Next Generat Sequenc & Applic 2016, 129

Patterson SE, Liu R, Statz CM, Durkin D, Lakshminarayan A, Mockus SM.  2016.  The clinical trial landscape in oncology and connectivity of somatic mutational profiles to targeted therapies.  Human Genomics (2016) 10:4

Tai DJ, Ragavendran A, Manavalan P, Stortchevoi A, Seabra CM, Erdin S, Collins RL, Blumenthal I, Chen X, Shen Y, Sahin M, Zhang C, Lee C, Gusella JF, Talkowski ME (2016): Engineering microdeletions and microduplications by targeting segmental duplications with CRISPR. Nat Neurosci. 19:517-22.

Tafe LJ, Muller KE, Ananda G, Mitchell T, Spotlow V, Patterson SE, Tsongalis GJ, Mockus SM.  2016.  Molecular Genetic Analysis of Ovarian Brenner Tumors and Associated Mucinous Epithelial Neoplasms.  High Variant Concordance and Identification of Mutually Exclusive RAS Driver Mutations and MYC Amplification.  Am J Pathol 2016, 186: 671– 677.


Ananda G, Mockus S, Lundquist M, Spotlow V, Simons A, Mitchell T, Stafford G, Philip V, Stearns T, Srivastava A, Barter M, Rowe L, Malcolm J, Bult C, Karuturi RK, Rasmussen, Hinerfeld D. 2015. Development and validation of the JAX Cancer Treatment Profile™ for detection of clinically actionable mutations in solid tumors. Exp Mol Pathol. Feb;98(1):106-12. 

Chopra SS, Leshchiner I, Duzkale H, McLaughlin H, Giovanni M, Zhang C, Stitziel N, Fingeroth J, Joyce RM, Lebo M, Rehm H, Vuzman D, Maas R, Sunyaev SR, Murray M, Cassa CA (2015): Inherited CHST11/MIR3922 deletion is associated with a novel recessive syndrome presenting with skeletal malformation and malignant lymphoproliferative disease. Mol Genet Genomic Med. 3:413-23.

Mockus SM, Patterson SE, Statz C, Bult C, Tsongalis G.  2015.  Clinical Trials in Precision Oncology.  Clinical Chemistry 62:3.

Park H, Cho SY, Kim H, Na D, Han JY, Chae J, Park C, Park OK, Min S, Kang J, Choi B, Min J, Kwon JY, Suh YS, Kong SH, Lee HJ, Liu ET, Kim JI, Kim S, Yang HK, Lee C (2015): Genomic alterations in BCL2L1 and DLC1 contribute to drug sensitivity in gastric cancer. Proc Natl Acad Sci U S A. 2015 Oct 6;112(40):12492-7.

Saumya S. Jamuar, Hatice Duzkale, Neslihan Duzkale, Chengsheng Zhang, Frances A. High, Leonard Kaban, Soma Bhattacharya, Barbara Crandall, Sibel Kantarci, Joan M. Stoler, Angela E. Lin (2015): Nablus Mask-Like Facial Syndrome: 4 Additional Cases Supporting a Possible Role of Non-coding RNA in the Manifestation of the Phenotype. Am J Med Genet A. 167: 1400-5.

Sudmant PH, et al (2015): An integrated map of structural variation in 2,504 human genomes. Nature. 526:75-81.

1000 Genomes Project Consortium (2015): A global reference for human genetic variation. Nature. 256:68-74.


Blackburn J, Liu S, Wilder J, Dobrinski K, Lobbardi R, Moore F, Martinez S, Chen E, Lee C, Langenau DM. Clonal evolution enhances leukemia propagating cell activity in T-cell acute lymphoblastic leukemia through Akt/mTORC1 pathway activation. Cancer Cell 2014; 25: 366-78.

Brand H, Pillalamarri V, Collins R, Eggert S, O’Dushlaine C, Braaten EB, Stone M, Chambert K, Doty ND, Hanscom C, Rosenfeld J, Ditmars H, Blais J, Mills R, Lee C, Gusella JF, McCarroll S, Smoller JW, Talkowski ME, Doyle AE. Cryptic and complex chromosomal aberrations in early onset neuropsychiatric disorders. Am J Hum Genet 2014; 95: 454-61.

Longoni M, High FA, Russell MK, Kashani A, Tracy AA, Coletti CM, Hila R, Shamia A, Wells J, Ackerman KG, Wilson JM, Bult C, Lee C, Lage K, Pober BR, Donahoe PK. 2014. Molecular pathogenesis of congenital diaphragmatic hernia revealed by exome sequencing, developmental data, and bioinformatics. Proc Natl Acad Sci USA 111(34): 12450-5


Abyzov A, Iskow R, Gokcumen O, Radke DW, Balasubramanian S, Pei B, Habegger L, The 1000 Genomes Project Consortium, Lee C*, Gerstein M*. Analysis of variable retroduplications in human populations suggests coupling of retrotransposition to cell division. Genome Res 2013; 23:2042-52. *Co-senior and co-corresponding author

Chu J-H, Rogers AJ, Ionita-Laza I, Darvishi K, Mills RE, Lee C, Raby BA. Copy number variation genotyping using family information. BMC Bioinformatics 2013; 14: 157.

Gokcumen O, Tischler V, Tica J, Zhu Q, Iskow RC, Lee E, Fritz MH, Langdon A, Stutz AM, Pavlidis P, Benes V, Mills RE, Park PJ, Lee C*, Korbel JO*. Primate genome architecture influences structural variation mechanisms and functional consequences. Proc Natl Acad Sci USA 2013; 110: 15764-9. *Co-senior author

Gokcumen O, Zhu Q, Mulder LC, Iskow RC, Austermann C, Scharer CD, Raj T, Boss JM, Sunyaev S, Price A, Stranger B, Simon V, Lee C. Balancing selection on a regulatory region exhibiting ancient variation that predates human-Neandertal divergence. PLoS Genet 2013; 9: e1003404.

Lynette M. Sholl, Heather Sun, Mohit Butaney,Chengsheng Zhang, Charles Lee, Pasi A. Jänne, and Scott J. Rodig (2013): ROS1 Immunohistochemistry for Detection of ROS1-Rearranged Lung Adenocarcinomas. Am. J. of Surg. Pathol . 37:1441-9

Yang L, Luquette LJ, Gehlenborg N, Xi R, Haseley PS, Hsieh C-H, Zhang C, Ren X, Protopopov A, Chin L, Kucherlapati R, Lee C, Park PJ. Diverse mechanisms of somatic structural variations in human cancer genomes. Cell 2013; 153: 919-29.