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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. 

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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.

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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.