Müller BM, Keil E, Lehmann A, et al. The EndoPredict gene-expression assay in clinical practice – performance and impact on clinical decisions. PLoS One. 2013;8(6):e68252.
Filipits M, et al. Prediction of distant recurrence using Endopredict among women with ER+, HER2- node-positive and node-negative breast cancer treated with endocrine therapy only. Clin Cancer Res. 2019 May 7.
Sestak I, et al. Prediction of chemotherapy benefit by EndoPredict in patients with breast cancer who received adjuvant endocrine therapy plus chemotherapy or endocrine therapy alone. Breast Cancer Res Treat. 2019 Apr 30.
Sestak I, et al. Comparison of the performance of 6 prognostic signatures for estrogen receptor-positive breast cancer. JAMA Oncol. 2018 Apr; 4(4):545-553.
Buus R, Sestak I, Kronenwett R, et al. Comparison of EndoPredict and EPclin with Oncotype DX recurrence score for prediction of risk of distant recurrence after endocrine therapy. J Natl Cancer Inst. 2016 Jul 10;108(11). pii: djw149. doi:10.1093/jnci/djw149. Print 2016 Nov.
Dubsky P, Filipits M, Jakesz R, et al. on behalf of Austrian Breast and Colorectal Cancer Study Group (ABCSG). EndoPredict improves the prognostic classification derived from common clinical guidelines in ER-positive, HER2-negative early breast cancer. Ann Oncol. 2013 Mar; 24(3):640-7.
Dubsky P, Brase JC, Jakesz R, et al. The EndoPredict score provides prognostic information on late distant metastases in ER+/HER2- breast cancer patients. Br J Cancer 2013; 109(12):2959–64.
Filipits M, Rudas M, Jakesz R, et al. A new molecular predictor of distant recurrence in ER-positive, HER2-negative breast cancer adds independent information to conventional clinical risk factors. Clin Cancer Res 2011; 17(18):6012–20.
Warf MB, et al. Analytical validation of a 12-gene molecular test for the prediction of distant recurrence in breast cancer. Future Sci 2017 June doi:10.4155/fsoa-2017-0051.
Kronenwett R, Bohmann K, Prinzler J, et al. Decentral gene expression analysis: analytical validation of the Endopredict genomic multianalyte breast cancer prognosis test. BMC Cancer 2012 Oct 5; 12:456.
Johansen Taber K, Lim‐Harashima J, Naemi H, Goldberg J. Fragile X syndrome carrier screening accompanied by genetic consultation has clinical utility in populations beyond those recommended by guidelines. Mol Genet Genomic Med. 2019;7:e1024. https ://doi.org/10.1002/mgg3.1024
Johansen Taber K, et al. Clinical utility of expanded carrier screening: results-guided actionability and outcomes. Genet Med. 2018 Oct 11; doi:10.1038/s41436-018-0321-0.
Kaseniit KE, Collins E, Lo C, et al. Inter-lab concordance of variant classifications establishes clinical validity of expanded carrier screening. Clin Genet. 2019;96:236–245. https://doi.org/10.1111/cge.13582KASENIIT ET AL.245
Ben-Shachar, R., Svenson, A., Goldberg, J.D. et al. A data-driven evaluation of the size and content of expanded carrier screening panels. Genet Med 21, 1931–1939 (2019). https://doi.org/10.1038/s41436-019-0466-5
Beauchamp KA, et al. Systematic design and comparison of expanded carrier screening panels. Genet Med. 2018;20:55–63.
Haque IS, et al. Modeled fetal risk of genetic diseases identified by expanded carrier screening. JAMA. 2016;316:734–742.
Lazarin GA, Hawthorne F, Collins NS, Platt EA, Evans EA, Haque IS (2014) Systematic Classification of Disease Severity for Evaluation of Expanded Carrier Screening Panels. PLoS ONE 9(12): e114391. https://doi.org/10.1371/journal.pone.0114391
Beauchamp, K.A., Johansen Taber, K.A., Grauman, P.V. et al. Sequencing as a first-line methodology for cystic fibrosis carrier screening. Genet Med 21, 2569–2576 (2019). https://doi.org/10.1038/s41436-019-0525-y
Hogan, G.J, et al. Validation of an Expanded Carrier Screen that Optimizes Sensitivity via Full-Exon Sequencing and Panel-wide Copy Number Variant Identification. Clin. Chem. 2018;64:1063–1073. https://doi.org/10.1373/clinchem.2018.286823.
Albers R, et al. Meta-Analysis of Response and Remission Outcomes with a Weighted Multi-Gene Pharmacogenomic Test for Adults with Depression. In press with Journal of Clinical Psychopharmacology. 2025 Sep 3. doi: 10.1097/JCP.0000000000002061. Online ahead of print.
Oslin DW, et al. Effect of Pharmacogenomic Testing for Drug-Gene Interactions on Medication Selection and Remission of Symptoms in Major Depressive Disorder. JAMA. 2022;328(2):151-161.
Forester BP, et al. Combinatorial Pharmacogenetic Testing Improves Outcomes for Older Adults With Depression. Am J Geriatr Psychiatry. 2020 Sep;28(9):933-945.
Dunlop BW, et al. Comparing sensitivity to change using the 6-item versus the 17-item Hamilton Depression Rating Scale in the GUIDED randomized controlled trial. BMC Psychiatry 2019; 19:420.
Thase ME, et al. Impact of pharmacogenomics on clinical outcomes for patients taking medications with gene-drug interactions in a randomized, controlled trial. J Clin Psychiatry 2019;80(6).
Greden JF, et al. Impact of pharmacogenomics on clinical outcomes in major depressive disorder in the GUIDED trial: A large, patient- and rater-blinded, randomized, controlled study. J Psychiatr Res 2019, 111:59-67.
Tanner JA, et al. Combinatorial pharmacogenomics and improved patient outcomes in depression: Treatment by primary care physicians or psychiatrists. Journal of Psychiatric Research 2018; 104:157–62.
Winner JG, et al. A prospective, randomized, double-blind study assessing the clinical impact of integrated pharmacogenomic testing for major depressive disorder. Discov Med 2013 Nov; 16(89):219-27.
Hall-Flavin DK, et al. Utility of integrated pharmacogenomic testing to support the treatment of major depressive disorder in a psychiatric outpatient setting. Pharmacogenet Genomics 2013 Oct; 23(10):535-48.
Hall-Flavin DK, et al. Using a pharmacogenomic algorithm to guide the treatment of depression. Transl Psychiatry 2012 Oct; 2(10): e172.
Altar CA, et al. Clinical utility of combinatorial pharmacogenomics-guided antidepressant therapy: evidence from three clinical studies. Mol Neuropsychiatry 2015; 1:125-55.
Rothschild A, et al. Clinical validation of combinatorial pharmacogenomic testing and single-gene guidelines in predicting psychotropic medication blood levels and clinical outcomes in patients with depression. Psychiatry Res. 2021 Feb; 296:113649.
Shelton RC, et al. Combinatorial pharmacogenetic algorithm is predictive of citalopram and escitalopram metabolism in patients with MDD. Psychiatry Res. 2020 May 17;290:113017. https://doi.org/10.1016/j.psychres.2020.113017. Online ahead of print.
Altar CA, et al. Clinical validity: combinatorial pharmacogenomics predicts antidepressant responses and healthcare utilizations better than single gene phenotypes. Pharmacogenomics J 2015; 15:443-51.
Jablonski MR, et al. Analytical validation of a psychiatric pharmacogenomic test. Per Med 2018; 15(3): 189-97.
Buys SS, et al. A study of over 35,000 women with breast cancer tested with a 25-gene panel of hereditary cancer genes. Cancer 2017. 123(10): 1721-30. doi:10.1002/cncr.30498.
Giri VN, Obeid E, Gross L, et al. Inherited mutations in men undergoing multigene panel testing for prostate cancer: emerging implications for personalized prostate cancer genetic evaluation [published online May 4, 2017]. JCO Prec Oncol. doi: 10.1200/PO.16.00039.
Rosenthal ET, et al. Increased identification of candidates for high-risk breast cancer screening through expanded genetic testing. J Am Coll Radiol 2017; 14:561-8. doi:10.1016/j.jacr.2016.10.003.
Howarth DR, et al. Initial results of multigene panel testing for hereditary breast and ovarian cancer and Lynch syndrome. Am Surg 2015 Oct; 81(10):941-4.
Saam J, et al. Hereditary cancer-associated mutations in women diagnosed with two primary cancers: an opportunity to identify hereditary cancer syndromes after the first cancer diagnosis. Oncology 2015; 88(4):226-33.
Desmond A, et al. Clinical actionability of multigene panel testing for hereditary breast and ovarian cancer risk assessment. JAMA Oncol 2015; 1(7):943-951.
Reid R, et al. Inherited germline mutations in men with prostate cancer. Presented at 2018 Genitourinary Cancer Symposium. J Clin Oncol 2018; 36 (suppl 6S; abstr 357).
Rosenthal ET, et al. Clinical testing with a panel of 25 genes associated with increased cancer risk results in a significant increase in clinically significant findings across a broad range of cancer histories. Cancer Genetics 2017; 218-219:58-68.
Yurgelun MB, et al. Cancer susceptibility gene mutations in individuals with colorectal cancer. J of Clin Onc 2017. J of Clin Onc 2017; 35(10): 1086-95.
Coffee B, et al. Detection of somatic variants in peripheral blood lymphocytes using a next generation sequencing multigene pan cancer panel. Cancer Genetics 2017; 211:5-8.
Giri VN, et al. Role of Genetic Testing for Inherited Prostate Cancer Risk: Philadelphia Prostate Cancer Consensus Conference 2017. JCO 2017.
Na R, et al. Germline Mutations in ATM and BRCA1/2 Distinguish Risk for Lethal and Indolent Prostate Cancer and are Associated with Early Age at Death. Eur Urol. 2017 May;71(5):740-747. doi: 10.1016/j.eururo.2016.11.033. Epub 2016 Dec 15. PubMed PMID: 27989354; PMCID: PMC5535082.
Pearlman R, et al. Prevalence and spectrum of germline cancer susceptibility gene mutations among patients with early-onset colorectal cancer. JAMA Oncol 2017; 3(4):464-71.
Pritchard CC, et al. Inherited DNA-Repair Gene Mutations in Men with Metastatic Prostate Cancer. NEJM 2016 Aug 4;375(5):443-53. doi: 10.1056/NEJMoa1603144. Epub 2016 Jul 6. PubMed PMID: 27433846; PubMed Central PMCID: PMC4986616.
Langer LR, et al. Hereditary cancer testing in patients with ovarian cancer using a 25-gene panel. JCSO 2016 July; 14:314-19.
Tung N, et al. Frequency of germline mutations in 25 cancer susceptibility genes in a sequential series of patients with breast cancer. J Clin Oncol 2016 May 1; 34(13):1460-8.
Hager S, et al. Anti-tumour activity of platinum compounds in advanced prostate cancer-a systematic literature review. Ann Oncol. 2016 Jun;27(6):975-84. doi: 10.1093/annonc/mdw156. Epub 2016 Apr 6. Review. PubMed PMID: 27052650.
Yurgelun MB, et al. Identification of a variety of mutations in cancer predisposition genes in patients with suspected Lynch syndrome. Gastroenterology 2015 Sep; 149(3):604-13.
Yorczyk A, et al. Use of panel tests in place of single gene tests in the cancer genetics clinic. Clin Genet 2015 Sep; 88(3):278-82.
Bratt O, et al. Clinical Management of Prostate Cancer in Men with BRCA Mutations. Eur Urol. 2015 Aug;68(2):194-5. doi: 10.1016/j.eururo.2014.11.005. Epub 2014 Nov 15. PubMed PMID: 25465969.
Saam J, et al. Patients tested at a laboratory for hereditary cancer syndromes show an overlap for multiple syndromes in their personal and familial cancer histories. Oncology 2015; 89(5):288-93.
Tung N, et al. Frequency of mutations in individuals with breast cancer referred for BRCA1 and BRCA2 testing using next-generation sequencing with a 25-gene panel. Cancer 2015 Jan 1; 121(1):25-33.
Castro E, et al. Effect of BRCA Mutations on Metastatic Relapse and Cause-specific Survival After Radical Treatment for Localised Prostate Cancer. Eur Urol. 2015 Aug;68(2):186-93. doi: 10.1016/j.eururo.2014.10.022. Epub 2014 Nov 6. PubMed PMID: 25454609.
Castro E, et al. Germline BRCA mutations are associated with higher risk of nodal involvement, distant metastasis, and poor survival outcomes in prostate cancer. J Clin Oncol. 2013 May 10;31(14):1748-57. doi: 10.1200/JCO.2012.43.1882. Epub 2013 Apr 8. PubMed PMID: 23569316; PubMed Central PMCID: PMC3641696.
Judkins T, et al. Development and analytical validation of a 25-gene next generation sequencing panel that includes the BRCA1 and BRCA2 genes to assess hereditary cancer risk. BMC Cancer 2015 Apr 2; 15:215.
Muzzey D, Goldberg JD, Haverty C. Noninvasive prenatal screening for patients with high bodymass index: Evaluating the impact of a customized wholegenome sequencing workflow on sensitivity and residual risk. PrenatalDiagnosis. 2019;1–9.https://doi.org/10.1002/pd.5603MUZZEYET AL.9
Welker, N.C., et al. High-throughput fetal fraction amplification increases analytical performance of noninvasive prenatal screening. Genet Med. 2021 Mar;23(3):443-450.
Hancock S, Ben-Shachar R, Adusei C, Oyolu CB, Evans EA, Kang HP, Haverty C, Muzzey D. Clinical experience across the fetal-fraction spectrum for a non-invasive prenatal screen with low test-failure rate. Ultrasound Obstet Gynecol. 2019 Oct 31. doi: 10.1002/uog.21904.
Kaseniit, K.E., Hogan, G.J., D’Auria, K.M. et al. Strategies to minimize false positives and interpret novel microdeletions based on maternal copy-number variants in 87,000 noninvasive prenatal screens. BMC Med Genomics 11, 90 (2018). https://doi.org/10.1186/s12920-018-0410-6.
Kaul S, et al. Clinical outcomes in men with prostate cancer who selected active surveillance using a clinical cell-cycle risk score. Per Med 2019 Nov;16(6):491-9.
Shore N, Kella N, Moran B, et al. Impact of the cell cycle progression test on physician and patient treatment selection for localized prostate cancer. J Urol 2016 March; 195:612-18.
Crawford ED, Scholz MC, Kar AJ, et al. Cell cycle progression score and treatment decisions in prostate cancer: results from an ongoing registry. Curr Med Res Opin 2014 Jun; 30(6):1025-31.
Canter DJ, et al. Analysis of the prognostic utility of the cell cycle progression (CCP) score generated from needle biopsy in men treated with definitive therapy. Prostate Cancer and Prostatic Diseases 2019.
Canter DJ, et al. Comparison of the prognostic utility of the cell cycle progression score for predicting clinical outcomes in African American and Non-African American men with localized prostate cancer. Eur Urol 2019 March; 75(3):515-22.
View Poster PDF
Léon P, et al. Comparison of cell cycle progression score with two immunohistochemical markers (PTEN and Ki-67) for predicting outcome in prostate cancer after radical prostatectomy. World J Urol 2018 Sep; 36(9):1495-1500.
Lin DW, et al. Identification of men with low-risk biopsy-confirmed prostate cancer as candidates for active surveillance. Urologic Oncology 2018; 36(6): 310.e7-310.e13.
Tosoian JJ, Chappidi MR, Bishoff JT, et al. Prognostic utility of biopsy-derived cell cycle progression score in patients with National Comprehensive Cancer Network low-risk prostate cancer undergoing radical prostatectomy: implications for treatment guidance. BJU Int 2017; 120:808-14.
Koch MO, Cho JS, Kaimakliotis HZ, et al. Use of the cell cycle progression (CCP) score for predicting systemic disease and response to radiation of biochemical recurrence. Cancer Biomarkers 2016 Jun; 17:83–8.
Cuzick J, Stone S, Fisher G, et al. Validation of an RNA cell cycle progression score for predicting death from prostate cancer in a conservatively managed needle biopsy cohort. Br J Cancer. 2015; 113:382–9.
Bishoff JT, Freedland SJ, Gerber L, et al. Prognostic utility of the CCP score generated from biopsy in men treated with prostatectomy. J Urol 2014 Aug; 192(2):409–14.
Freedland SJ, Gerber L, Reid J, et al. Prognostic utility of cell cycle progression score in men with prostate cancer after primary external beam radiation therapy. Int J Radiat Oncol Biol Phys 2013 Aug; 86(5):848-53.
Cooperberg MR, Simko JP, Cowan JE, et al. Validation of a cell-cycle progression gene panel to improve risk stratification in a contemporary prostatectomy cohort. J Clin Oncol 2013 Apr 10; 31(11):1428-34.
Cuzick J, Berney DM, Fisher G, et al. Transatlantic Prostate Group. Prognostic value of a cell cycle progression signature for prostate cancer death in conservatively managed needle biopsy cohort. Br J Cancer 2012 Mar 13; 106(6):1095-9.
Cuzick J, Swanson GP, Fisher G, et al. Transatlantic Prostate Group. Prognostic value of an RNA expression signature derived from cell cycle proliferation genes in patients with prostate cancer: a retrospective study. Lancet Oncol 2011 Mar; 12(3):245-55.
Warf MB, Reid JE, Brown KL, et al. Analytical validation of a cell cycle progression signature used as a prognostic marker in prostate cancer. J Mol Biomark Diagn 2015 Sep; 9(9):901-10.