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Page 1
Evidence-based recommendations for gene-specific ACMG/AMP variant classification from the ClinGen ENIGMA BRCA1 and BRCA2 Variant Curation Expert Panel.
Parsons MT, de la Hoya M, Richardson ME, Tudini E, Anderson M, Berkofsky-Fessler W, Caputo SM, Chan RC, Cline MS, Feng BJ, Fortuno C, Gomez-Garcia E, Hadler J, Hiraki S, Holdren M, Houdayer C, Hruska K, James P, Karam R, Leong HS, Martins A, Mensenkamp AR, Monteiro AN, Nathan V, O'Connor R, Pedersen IS, Pesaran T, Radice P, Schmidt G, Southey M, Tavtigian S, Thompson BA, Toland AE, Turnbull C, Vogel MJ, Weyandt J, Wiggins GAR, Zec L, Couch FJ, Walker LC, Vreeswijk MPG, Goldgar DE, Spurdle AB. Parsons MT, et al. Among authors: berkofsky fessler w. Am J Hum Genet. 2024 Sep 5;111(9):2044-2058. doi: 10.1016/j.ajhg.2024.07.013. Epub 2024 Aug 13. Am J Hum Genet. 2024. PMID: 39142283
Classification of BRCA2 Variants of Uncertain Significance (VUS) Using an ACMG/AMP Model Incorporating a Homology-Directed Repair (HDR) Functional Assay.
Hu C, Susswein LR, Roberts ME, Yang H, Marshall ML, Hiraki S, Berkofsky-Fessler W, Gupta S, Shen W, Dunn CA, Huang H, Na J, Domchek SM, Yadav S, Monteiro ANA, Polley EC, Hart SN, Hruska KS, Couch FJ. Hu C, et al. Among authors: berkofsky fessler w. Clin Cancer Res. 2022 Sep 1;28(17):3742-3751. doi: 10.1158/1078-0432.CCR-22-0203. Clin Cancer Res. 2022. PMID: 35736817 Free PMC article.
RG7212 anti-TWEAK mAb inhibits tumor growth through inhibition of tumor cell proliferation and survival signaling and by enhancing the host antitumor immune response.
Yin X, Luistro L, Zhong H, Smith M, Nevins T, Schostack K, Hilton H, Lin TA, Truitt T, Biondi D, Wang X, Packman K, Rosinski J, Berkofsky-Fessler W, Tang JP, Pant S, Geho D, Vega-Harring S, Demario M, Levitsky H, Simcox M. Yin X, et al. Among authors: berkofsky fessler w. Clin Cancer Res. 2013 Oct 15;19(20):5686-98. doi: 10.1158/1078-0432.CCR-13-0405. Epub 2013 Aug 23. Clin Cancer Res. 2013. PMID: 23974006
Analysis of genomic aberrations and gene expression profiling identifies novel lesions and pathways in myeloproliferative neoplasms.
Rice KL, Lin X, Wolniak K, Ebert BL, Berkofsky-Fessler W, Buzzai M, Sun Y, Xi C, Elkin P, Levine R, Golub T, Gilliland DG, Crispino JD, Licht JD, Zhang W. Rice KL, et al. Among authors: berkofsky fessler w. Blood Cancer J. 2011 Nov;1(11):e40. doi: 10.1038/bcj.2011.39. Epub 2011 Nov 11. Blood Cancer J. 2011. PMID: 22829077 Free PMC article.
Serum cardiac troponin I concentrations transiently increase in rats given rosiglitazone.
Mikaelian I, Buness A, Hirkaler G, Fernandes R, Coluccio D, Geng W, Visalli T, Bachynsky MO, Berkofsky-Fessler W, Kanwal C, Hilton H, Nicklaus R, Hoflack JC, Dunn M, Sanders M, Giron M, Boyle BW, Singer T, Dick LS. Mikaelian I, et al. Among authors: berkofsky fessler w. Toxicol Lett. 2011 Mar 5;201(2):110-5. doi: 10.1016/j.toxlet.2010.12.012. Epub 2010 Dec 21. Toxicol Lett. 2011. PMID: 21172411
Transcriptional profiling of polycythemia vera identifies gene expression patterns both dependent and independent from the action of JAK2V617F.
Berkofsky-Fessler W, Buzzai M, Kim MK, Fruchtman S, Najfeld V, Min DJ, Costa FF, Bischof JM, Soares MB, McConnell MJ, Zhang W, Levine R, Gilliland DG, Calogero R, Licht JD. Berkofsky-Fessler W, et al. Clin Cancer Res. 2010 Sep 1;16(17):4339-52. doi: 10.1158/1078-0432.CCR-10-1092. Epub 2010 Jul 2. Clin Cancer Res. 2010. PMID: 20601445 Free PMC article.
Preclinical profile of a potent gamma-secretase inhibitor targeting notch signaling with in vivo efficacy and pharmacodynamic properties.
Luistro L, He W, Smith M, Packman K, Vilenchik M, Carvajal D, Roberts J, Cai J, Berkofsky-Fessler W, Hilton H, Linn M, Flohr A, Jakob-Røtne R, Jacobsen H, Glenn K, Heimbrook D, Boylan JF. Luistro L, et al. Among authors: berkofsky fessler w. Cancer Res. 2009 Oct 1;69(19):7672-80. doi: 10.1158/0008-5472.CAN-09-1843. Epub 2009 Sep 22. Cancer Res. 2009. PMID: 19773430 Free PMC article.
Preclinical biomarkers for a cyclin-dependent kinase inhibitor translate to candidate pharmacodynamic biomarkers in phase I patients.
Berkofsky-Fessler W, Nguyen TQ, Delmar P, Molnos J, Kanwal C, DePinto W, Rosinski J, McLoughlin P, Ritland S, DeMario M, Tobon K, Reidhaar-Olson JF, Rueger R, Hilton H. Berkofsky-Fessler W, et al. Mol Cancer Ther. 2009 Sep;8(9):2517-25. doi: 10.1158/1535-7163.MCT-09-0083. Epub 2009 Sep 15. Mol Cancer Ther. 2009. PMID: 19755512 Clinical Trial.
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