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Specifications of the ACMG/AMP Variant Classification Guidelines for Germline DICER1 Variant Curation.
Hatton JN, Frone MN, Cox HC, Crowley SB, Hiraki S, Yokoyama NN, Abul-Husn NS, Amatruda JF, Anderson MJ, Bofill-De Ros X, Carr AG, Chao EC, Chen KS, Gu S, Higgs C, Machado J, Ritter D, Schultz KA, Soper ER, Wu MK, Mester JL, Kim J, Foulkes WD, Witkowski L, Stewart DR. Hatton JN, et al. Among authors: amatruda jf. Hum Mutat. 2023;2023:9537832. doi: 10.1155/2023/9537832. Epub 2023 Mar 29. Hum Mutat. 2023. PMID: 38084291 Free PMC article.
Driver mutations associated with signatures of platinum sensitivity in germ cell tumors.
Sawa YC, Jia L, Krause H, Meagher M, Millard F, Elliott A, Lafin JT, Jamieson C, Antonarakis ES, D'Souza A, Giannikou K, Amatruda JF, Daneshmand S, McKay RR, Oberley M, Nabhan C, Bagrodia A. Sawa YC, et al. Among authors: amatruda jf. NPJ Precis Oncol. 2024 Nov 2;8(1):249. doi: 10.1038/s41698-024-00727-2. NPJ Precis Oncol. 2024. PMID: 39488665 Free PMC article.
Caveolin-1 regulates context-dependent signaling and survival in Ewing Sarcoma.
Segal D, Wang X, Mazloom-Farisbaf H, Rajendran D, Butler E, Chen B, Chang BJ, Ahuja K, Perny A, Bhatt K, Reed DK, Castrillon DH, Lee J, Jeffery E, Wang L, Nguyen K, Williams NS, Skapek SX, Rajaram S, Fiolka R, Jaqaman K, Hon G, Amatruda JF, Danuser G. Segal D, et al. Among authors: amatruda jf. bioRxiv [Preprint]. 2024 Dec 12:2024.09.23.614468. doi: 10.1101/2024.09.23.614468. bioRxiv. 2024. PMID: 39713413 Free PMC article. Preprint.
DROSHA Regulates Mesenchymal Gene Expression in Wilms Tumor.
Tiburcio PDB, Desai K, Kim J, Zhou Q, Guo L, Xiao X, Zhou L, Yuksel A, Catchpoole DR, Amatruda JF, Xu L, Chen KS. Tiburcio PDB, et al. Among authors: amatruda jf. Mol Cancer Res. 2024 Aug 2;22(8):711-720. doi: 10.1158/1541-7786.MCR-23-0930. Mol Cancer Res. 2024. PMID: 38647377
Building advocacy into research.
Amatruda JF. Amatruda JF. Dis Model Mech. 2023 Dec 1;16(12):dmm050646. doi: 10.1242/dmm.050646. Epub 2023 Dec 18. Dis Model Mech. 2023. PMID: 38108236 Free PMC article. No abstract available.
Refining the serum miR-371a-3p test for viable germ cell tumor detection.
Lafin JT, Scarpini CG, Amini A, Konneh B, Howard JM, Gerald T, Nuno M, Piao J, Savelyeva A, Wang Z, Gagan J, Jia L, Lewis CM, Murray S, Sawa YC, Margulis V, Woldu SL, Strand DW, Coleman N, Amatruda JF, Frazier AL, Murray MJ, Bagrodia A. Lafin JT, et al. Among authors: amatruda jf. Sci Rep. 2023 Jun 29;13(1):10558. doi: 10.1038/s41598-023-37271-1. Sci Rep. 2023. PMID: 37386046 Free PMC article.
Integrated genomic analysis reveals aberrations in WNT signaling in germ cell tumors of childhood and adolescence.
Xu L, Pierce JL, Sanchez A, Chen KS, Shukla AA, Fustino NJ, Stuart SH, Bagrodia A, Xiao X, Guo L, Krailo MD, Shaikh F, Billmire DF, Pashankar F, Bestrashniy J, Oosterhuis JW, Gillis AJM, Xie Y, Teot L, Mora J, Poynter JN, Rakheja D, Looijenga LHJ, Draper BW, Frazier AL, Amatruda JF. Xu L, et al. Among authors: amatruda jf. Nat Commun. 2023 May 6;14(1):2636. doi: 10.1038/s41467-023-38378-9. Nat Commun. 2023. PMID: 37149691 Free PMC article.
130 results