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Page 1
OpenPBTA: The Open Pediatric Brain Tumor Atlas.
Shapiro JA, Gaonkar KS, Spielman SJ, Savonen CL, Bethell CJ, Jin R, Rathi KS, Zhu Y, Egolf LE, Farrow BK, Miller DP, Yang Y, Koganti T, Noureen N, Koptyra MP, Duong N, Santi M, Kim J, Robins S, Storm PB, Mack SC, Lilly JV, Xie HM, Jain P, Raman P, Rood BR, Lulla RR, Nazarian J, Kraya AA, Vaksman Z, Heath AP, Kline C, Scolaro L, Viaene AN, Huang X, Way GP, Foltz SM, Zhang B, Poetsch AR, Mueller S, Ennis BM, Prados M, Diskin SJ, Zheng S, Guo Y, Kannan S, Waanders AJ, Margol AS, Kim MC, Hanson D, Van Kuren N, Wong J, Kaufman RS, Coleman N, Blackden C, Cole KA, Mason JL, Madsen PJ, Koschmann CJ, Stewart DR, Wafula E, Brown MA, Resnick AC, Greene CS, Rokita JL, Taroni JN; Children’s Brain Tumor Network; Pacific Pediatric Neuro-Oncology Consortium. Shapiro JA, et al. Among authors: stewart dr. Cell Genom. 2023 May 31;3(7):100340. doi: 10.1016/j.xgen.2023.100340. eCollection 2023 Jul 12. Cell Genom. 2023. PMID: 37492101 Free PMC article.
Germline pathogenic variants in 786 neuroblastoma patients.
Kim J, Vaksman Z, Egolf LE, Kaufman R, Evans JP, Conkrite KL, Danesh A, Lopez G, Randall MP, Dent MH, Farra LM, Menghani N, Dymek M, Desai H, Hausler R; Penn Medicine BioBank; Regeneron Genetics Center; Cancer Genomics Research Laboratory; Auvil JG, Gerhard DS, Hakonarson H, Maxwell KN, Cole KA, Pugh TJ, Bosse KR, Khan J, Wei JS, Maris JM, Stewart DR, Diskin SJ. Kim J, et al. Among authors: stewart dr. medRxiv [Preprint]. 2023 Jan 25:2023.01.23.23284864. doi: 10.1101/2023.01.23.23284864. medRxiv. 2023. PMID: 36747619 Free PMC article. Updated. Preprint.
Germline pathogenic variants in neuroblastoma patients are enriched in BARD1 and predict worse survival.
Kim J, Vaksman Z, Egolf LE, Kaufman R, Evans JP, Conkrite KL, Danesh A, Lopez G, Randall MP, Dent MH, Farra LM, Menghani NL, Dymek M, Desai H, Hausler R, Hicks B, Auvil JG, Gerhard DS, Hakonarson H, Maxwell KN, Cole KA, Pugh TJ, Bosse KR, Khan J, Wei JS, Maris JM, Stewart DR, Diskin SJ. Kim J, et al. Among authors: stewart dr. J Natl Cancer Inst. 2024 Jan 10;116(1):149-159. doi: 10.1093/jnci/djad183. J Natl Cancer Inst. 2024. PMID: 37688579
Germline Exome Sequencing for Men with Testicular Germ Cell Tumor Reveals Coding Defects in Chromosomal Segregation and Protein-targeting Genes.
Pyle LC, Kim J, Bradfield J, Damrauer SM, D'Andrea K, Einhorn LH, Godse R, Hakonarson H, Kanetsky PA, Kember RL, Jacobs LA, Maxwell KN, Rader DJ, Vaughn DJ, Weathers B, Wubbenhorst B, Regeneron Genetics Center Research Team, Cancer Genomics Research Laboratory, Greene MH, Nathanson KL, Stewart DR. Pyle LC, et al. Among authors: stewart dr. Eur Urol. 2024 Apr;85(4):337-345. doi: 10.1016/j.eururo.2023.05.008. Epub 2023 May 26. Eur Urol. 2024. PMID: 37246069
DICER1 RNase IIIb domain mutations trigger widespread miRNA dysregulation and MAPK activation in pediatric thyroid cancer.
Ricarte-Filho JC, Casado-Medrano V, Reichenberger E, Spangler Z, Scheerer M, Isaza A, Baran J, Patel T, MacFarland SP, Brodeur GM, Stewart DR, Baloch Z, Bauer AJ, Wasserman JD, Franco AT. Ricarte-Filho JC, et al. Among authors: stewart dr. Front Endocrinol (Lausanne). 2023 Feb 21;14:1083382. doi: 10.3389/fendo.2023.1083382. eCollection 2023. Front Endocrinol (Lausanne). 2023. PMID: 36896180 Free PMC article.
Germline Genetic Testing and Survival Outcomes Among Children With Rhabdomyosarcoma: A Report From the Children's Oncology Group.
Martin-Giacalone BA, Li H, Scheurer ME, Casey DL, Dugan-Perez S, Marquez-Do DA, Muzny D, Gibbs RA, Barkauskas DA, Hall D, Stewart DR, Schiffman JD, McEvoy MT, Khan J, Malkin D, Linardic CM, Crompton BD, Shern JF, Skapek SX, Venkatramani R, Hawkins DS, Sabo A, Plon SE, Lupo PJ. Martin-Giacalone BA, et al. Among authors: stewart dr. JAMA Netw Open. 2024 Mar 4;7(3):e244170. doi: 10.1001/jamanetworkopen.2024.4170. JAMA Netw Open. 2024. PMID: 38546643 Free PMC article.
ACMG SF v3.2 list for reporting of secondary findings in clinical exome and genome sequencing: A policy statement of the American College of Medical Genetics and Genomics (ACMG).
Miller DT, Lee K, Abul-Husn NS, Amendola LM, Brothers K, Chung WK, Gollob MH, Gordon AS, Harrison SM, Hershberger RE, Klein TE, Richards CS, Stewart DR, Martin CL; ACMG Secondary Findings Working Group. Electronic address: documents@acmg.net. Miller DT, et al. Among authors: stewart dr. Genet Med. 2023 Aug;25(8):100866. doi: 10.1016/j.gim.2023.100866. Epub 2023 Jun 22. Genet Med. 2023. PMID: 37347242
Outcomes in ovarian Sertoli-Leydig cell tumor: A report from the International Pleuropulmonary Blastoma/DICER1 and Ovarian and Testicular Stromal Tumor Registries.
Nelson AT, Harris AK, Watson D, Kamihara J, Chen KS, Stall JN, Devins KM, Young RH, Olson DR, Mallinger PHR, Mitchell SG, Hoffman LM, Halliday G, Suleymanova AM, Glade Bender JL, Messinger YH, Herzog CE, Field AL, Frazier AL, Stewart DR, Dehner LP, Hill DA, Billmire DF, Schneider DT, Schultz KAP. Nelson AT, et al. Among authors: stewart dr. Gynecol Oncol. 2024 Apr 22;186:117-125. doi: 10.1016/j.ygyno.2024.04.005. Online ahead of print. Gynecol Oncol. 2024. PMID: 38657450
260 results