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Medically actionable pathogenic variants in a population of 13,131 healthy elderly individuals.
Lacaze P, Sebra R, Riaz M, Tiller J, Revote J, Phung J, Parker EJ, Orchard SG, Lockery JE, Wolfe R, Strahl M, Wang YC, Chen R, Sisco D, Arnold T, Thompson BA, Buchanan DD, Macrae FA, James PA, Abhayaratna WP, Lockett TJ, Gibbs P, Tonkin AM, Nelson MR, Reid CM, Woods RL, Murray AM, Winship I, McNeil JJ, Schadt E. Lacaze P, et al. Among authors: chen r. Genet Med. 2020 Nov;22(11):1883-1886. doi: 10.1038/s41436-020-0881-7. Epub 2020 Jul 1. Genet Med. 2020. PMID: 32606442 Free PMC article.
Parafibromin Abnormalities in Ossifying Fibroma.
Costa-Guda J, Pandya C, Strahl M, Taik P, Sebra R, Chen R, Uzilov AV, Arnold A. Costa-Guda J, et al. Among authors: chen r. J Endocr Soc. 2021 May 8;5(7):bvab087. doi: 10.1210/jendso/bvab087. eCollection 2021 Jul 1. J Endocr Soc. 2021. PMID: 34159287 Free PMC article.
Personalized Circulating Tumor DNA Biomarkers Dynamically Predict Treatment Response and Survival In Gynecologic Cancers.
Pereira E, Camacho-Vanegas O, Anand S, Sebra R, Catalina Camacho S, Garnar-Wortzel L, Nair N, Moshier E, Wooten M, Uzilov A, Chen R, Prasad-Hayes M, Zakashansky K, Beddoe AM, Schadt E, Dottino P, Martignetti JA. Pereira E, et al. Among authors: chen r. PLoS One. 2015 Dec 30;10(12):e0145754. doi: 10.1371/journal.pone.0145754. eCollection 2015. PLoS One. 2015. PMID: 26717006 Free PMC article.
Genomic profiling reveals mutational landscape in parathyroid carcinomas.
Pandya C, Uzilov AV, Bellizzi J, Lau CY, Moe AS, Strahl M, Hamou W, Newman LC, Fink MY, Antipin Y, Yu W, Stevenson M, Cavaco BM, Teh BT, Thakker RV, Morreau H, Schadt EE, Sebra R, Li SD, Arnold A, Chen R. Pandya C, et al. Among authors: chen r. JCI Insight. 2017 Mar 23;2(6):e92061. doi: 10.1172/jci.insight.92061. JCI Insight. 2017. PMID: 28352668 Free PMC article.
Melanocortin 4 Receptor Pathway Dysfunction in Obesity: Patient Stratification Aimed at MC4R Agonist Treatment.
Ayers KL, Glicksberg BS, Garfield AS, Longerich S, White JA, Yang P, Du L, Chittenden TW, Gulcher JR, Roy S, Fiedorek F, Gottesdiener K, Cohen S, North KE, Schadt EE, Li SD, Chen R, Van der Ploeg LHT. Ayers KL, et al. Among authors: chen r. J Clin Endocrinol Metab. 2018 Jul 1;103(7):2601-2612. doi: 10.1210/jc.2018-00258. J Clin Endocrinol Metab. 2018. PMID: 29726959 Free PMC article.
A Drosophila platform identifies a novel, personalized therapy for a patient with adenoid cystic carcinoma.
Bangi E, Smibert P, Uzilov AV, Teague AG, Gopinath S, Antipin Y, Chen R, Hecht C, Gruszczynski N, Yon WJ, Malyshev D, Laspina D, Selkridge I, Wang H, Gomez J, Mascarenhas J, Moe AS, Lau CY, Taik P, Pandya C, Sung M, Kim S, Yum K, Sebra R, Donovan M, Misiukiewicz K, Ang C, Schadt EE, Posner MR, Cagan RL. Bangi E, et al. Among authors: chen r. iScience. 2021 Feb 20;24(3):102212. doi: 10.1016/j.isci.2021.102212. eCollection 2021 Mar 19. iScience. 2021. PMID: 33733072 Free PMC article.
USP8 and TP53 Drivers are Associated with CNV in a Corticotroph Adenoma Cohort Enriched for Aggressive Tumors.
Uzilov AV, Taik P, Cheesman KC, Javanmard P, Ying K, Roehnelt A, Wang H, Fink MY, Lau CY, Moe AS, Villar J, Bederson JB, Stewart AF, Donovan MJ, Mahajan M, Sebra R, Post KD, Chen R, Geer EB. Uzilov AV, et al. Among authors: chen r. J Clin Endocrinol Metab. 2021 Mar 8;106(3):826-842. doi: 10.1210/clinem/dgaa853. J Clin Endocrinol Metab. 2021. PMID: 33221858
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