Scientific Publications

Aaberg TM, Covington KR, Tsai T, et al. Gene expression profiling in uveal melanoma: five-year prospective outcomes and meta-analysis. Ocul Oncol Pathol 2020. doi: 10.1159/000508382.


Aaberg TM, Cook RW, Oelschlager KM, et al. Current clinical practice: differential management of uveal melanoma in the era of molecular tumor analyses. Clin Ophthalmol 2014;8:2449-60.


Afshar AR, Damato BE, Stewart JM, et al. Next-generation sequencing of uveal melanoma for detection of genetic alterations predicting metastasis. Trans Vis Sci Tech 2019 Apr 17;8(2):18.


Binkley EM, Bena JF, Davanzo JM, Hinz C, Boldt HC, Singh AD. Gene Expression Profiling Prognostication of Posterior Uveal Melanoma: Does Size Matter? Ophthalmol Retina 2020;4(6)620-629.


Cai L, Paez-Escamilla M, Walter SD, et al. Gene expression profiling and PRAME status versus tumor-node-metastasis staging for prognostication in uveal melanoma. Am J Ophthalmol 2018;195:154–60.


Chappell MC, Char DH, Cole TB, et al. Uveal melanoma: molecular pattern, clinical features, and radiation response. Am J Ophthalmol 2012;154(2):227-32.


Correa ZM & Augsburger JJ. Independent prognostic significance of gene expression profile class and largest basal diameter of posterior uveal melanomas. Am J Ophthalmol 2016;162:20-7e1.


Correa ZM & Augsburger JJ. Sufficiency of FNAB aspirates of posterior uveal melanoma for cytologic versus GEP classification in 159 patients, and relative prognostic significance of these classifications. Graefes Arch Clin Exp Ophthalmol 2014;252(1):131-5.


Decatur CL, Ong, E, Garg, N, et al. Driver mutations in uveal melanoma: associations with gene expression profile and patient outcomes. JAMA Ophthalmol 2016;134(7):728-33.


Demirci H, Niziol LM, Ozkurt Z, Slimani N, Ozgonul C, Liu T, et al. Do largest basal tumor diameter and the American Joint Committee on Cancer’s cancer staging influence prognostication by gene expression profiling in choroidal melanoma. Am J Ophthalmol 2018 Nov;195:83–92.


Field MG, Durante MA, Decatur CL, et al. Epigenetic reprogramming and aberrant expression of PRAME are associated with increased metastatic risk in Class 1 and 2 uveal melanomas. Oncotarget 2016;7(37): 59209-19.


Field MG & Harbour JW. Recent developments in prognostic and predictive testing in uveal melanoma. Curr Opin in Ophthalmol 2014;25(3):234-9.


Gill HS & Char DH. Uveal melanoma prognostication: from lesion size and cell type to molecular class. Can J Ophthalmol 2012;47:246-253.


Klofas LK, Bogan CM, Coogan A, et al. Instrument gauge and type in uveal melanoma fine needle biopsy: implications for diagnostic yield and molecular prognosticationAm J Ophthalmol 2020; online ahead of print.


Harbour JW & Chen R. The DecisionDx-UM gene expression profile test provides risk stratification and individualized patient care in uveal melanoma. PLoS Curr 2013. doi: 10.1371/currents.eogt.af8ba80fc776c8f1ce8f5dc485d4a618.


Harbour JW. Genomic research in uveal melanoma. Retina Today 2010:67-9.


Onken MD, Worley LA, Char CH, et al. Collaborative Ocular Oncology Group Report Number 1: Prospective validation of a multi-gene prognostic assay in uveal melanoma. Ophthalmology 2012;119: 1596-1603.


Onken MD, Worley LA, Tuscan MD, et al. An accurate, clinically feasible multi-gene expression assay for predicting metastasis in uveal melanoma. J Mol Diagn 2010;12(4):461-8.


Onken MD, Worley LA, Davila RM, et al. Prognostic testing in uveal melanoma by transcriptomic profiling of fine needle biopsy specimens. J Mol Diagn 2006;8:567-73.


Onken MD, Worley LA, Ehlers JP, et al. Gene expression profiling in uveal melanoma reveals two molecular classes and predicts metastatic death. Cancer Res 2004;64:7205-9.


Plasseraud KM, Wilkinson JK, Oelschlager KM, et al. Gene expression profiling in uveal melanoma: technical reliability and correlation of molecular class with pathologic characteristics. Diagn Pathol 2017;12(1):59.


Plasseraud KM, Cook RW, Tsai T, et al. Clinical performance and management outcomes with the DecisionDx-UM gene expression profile test in a prospective multicenter study. J Oncol 2016; doi:10.1155/2016/5325762.


Schefler AC, Skalet A, Oliver SCN, et al. Prospective evaluation of risk-appropriate management of uveal melanoma patients informed by gene expression profiling. Melanoma Manag 2020;7(1):MMT37.


Worley LA, Onken MD, Person E, et al. Transcriptomic versus chromosomal prognostic markers and clinical outcome in uveal melanoma. Clin Cancer Res 2007;3(5):1466-71.

Field MG, Decatur CL, Kurtenbach S, et al. PRAME as an independent biomarker for metastasis in uveal melanoma. Clin Cancer Res 2016;22(5):1234-42.


Walter SD, Chao DL, Feuer W, et al. Prognostic implications of tumor diameter in association with gene expression profile for uveal melanoma. JAMA Ophthalmol 2016;134(7):734-40.

Abdel-Rahman MH, Pilarski R, Cebulla CM, et al. Germline BAP1 mutation predisposes to uveal melanoma, lung adenocarcinoma, meningioma, and other cancers. J Med Genet 2011;48:856-9.


Aoude LG, Vajdic CM, Kricker A, et al. Prevalence of germline BAP1 mutation in a population-based sample of uveal melanoma cases. Pigment Cell Melanoma Res 2013;26:278-9.


Decatur CL, Ong E, Garg N, et al. Driver mutations in uveal melanoma: associations with gene expression profile and patient outcomes. JAMA Ophthalmol 2016;134:728-33.


Ewens KG, Kanetsky PA, Richards-Yutz J, et al. Chromosome 3 status combined with BAP1 and EIF1AX mutation profiles are associated with metastasis in uveal melanoma. Invest Ophthalmol Vis Sci 2014;55:5160-7.


Furney SJ, Pedersen M, Gentien D, et al. SF3B1 mutations are associated with alternative splicing in uveal melanoma. Cancer Discov 2013;3:1122-9.


Gupta MP, Lane AM, DeAngelis MM, et al. Clinical characteristics of uveal melanoma in patients with germline BAP1 mutations. JAMA Ophthalmol 2015;133:881-7.


Harbour JW, Onken MD, Roberson ED, et al. Frequent mutation of BAP1 in metastasizing uveal melanomas. Science 2010;330:1410-3.


Harbour JW, Roberson ED, Anbunathan H, et al. Recurrent mutations at codon 625 of the splicing factor SF3B1 in uveal melanoma. Nat Genet 2013;45:133-5.


Johansson P, Aoude LG, Wadt K, et al. Deep sequencing of uveal melanoma identifies a recurrent mutation in PLCB4. Oncotarget 2016;7:4624-31.


Martin M, Masshofer L, Temming P, et al. Exome sequencing identifies recurrent somatic mutations in EIF1AX and SF3B1 in uveal melanoma with disomy 3Nat Genet 2013;45:933-6.


Moore AR, Ceraudo E, Sher JJ, et al. Recurrent activating mutations of G-protein-coupled receptor CYSLTR2 in uveal melanoma. Nat Genet 2016;48:675-80.


Njauw CN, Kim I, Piris A, et al. Germline BAP1 inactivation is preferentially associated with metastatic ocular melanoma and cutaneous-ocular melanoma families. PLoS One 2012;7: e35295.


Onken MD, Worley LA, Long MD, et al. Oncogenic mutations in GNAQ occur early in uveal melanoma. Invest Ophthalmol Vis Sci 2008;49:5230-4.


Rai K, Pilarski R, Cebulla CM, et al. Comprehensive review of BAP1 tumor predisposition syndrome with report of two new cases. Clin Genet 2016;89:285-94.


Shoushtari AN and Carvajal RD. GNAQ and GNA11 mutations in uveal melanoma. Melanoma Res 2014;24:525-34.


Van Raamsdonk CD, Bezrookove V, Green G, et al. Frequent somatic mutations of GNAQ in uveal melanoma and blue naevi. Nature 2009;457:599-602.


Van Raamsdonk CD, Griewank KG, Crosby MB, et al. Mutations in GNA11 in uveal melanoma. N Engl J Med 2010;363:2191-9.


Yavuzyigitoglu S, Koopmans AE, Verdijk RM, et al. Uveal melanomas with SF3B1 Mutations: a distinct subclass associated with late-onset metastases. Ophthalmology 2016;123:1118-28.

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