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Page 1
Germline pathogenic variation impacts somatic alterations and patient outcomes in pediatric central nervous system tumors.
Corbett RJ, Kaufman RS, McQuaid SW, Vaksman Z, Phul S, Brown MA, Mason JL, Waszak SM, Zhang B, Zhong C, Blauel E, Desai H, Hausler R, Naqvi AS, Daggett JM, Sickler A, Cresswell-Clay EC, Sullivan PJ, Chroni A, Geng Z, Gonzalez EM, Zhu Y, Heath AP, Li M, Storm PB, Resnick AC, Maxwell KN, Cole KA, Waanders AJ, Bornhorst M, MacFarland SP, Rokita JL, Diskin SJ. Corbett RJ, et al. Among authors: waszak sm. Nat Commun. 2025 Nov 21;16(1):10282. doi: 10.1038/s41467-025-65190-4. Nat Commun. 2025. PMID: 41271695 Free PMC article.
Isocitrate dehydrogenase 1 primes group-3 medulloblastomas for cuproptosis.
Dang D, Deogharkar A, McKolay J, Smith KS, Panwalkar P, Hoffman S, Tian W, Ji S, Azambuja AP, Natarajan SK, Lum J, Bayliss J, Manzeck K, Sweha SR, Hamanishi E, Pun M, Patel D, Rau S, Animasahun O, Achreja A, Ogrodzinski MP, Diessl J, Cotter J, Hawes D, Yang F, Doherty R, Franson AT, Hanaford AR, Eberhart CG, Raabe EH, Orr BA, Wechsler-Reya RJ, Chen B, Lyssiotis CA, Shah YM, Lunt SY, Banerjee R, Judkins AR, Prensner JR, Koschmann C, Waszak SM, Nagrath D, Simoes-Costa M, Northcott PA, Venneti S. Dang D, et al. Among authors: waszak sm. Cancer Cell. 2025 Jun 9;43(6):1159-1174.e8. doi: 10.1016/j.ccell.2025.04.013. Epub 2025 May 15. Cancer Cell. 2025. PMID: 40378837
Genetic modeling of ELP1-associated Sonic hedgehog medulloblastoma identifies MDM2 as a selective therapeutic target.
Ahmad ST, Li Y, Garcia-Lopez J, Gudenas BL, Hadley J, Paul L, Wu SC, Refaat A, Kojic M, Batts M, Soliman T, Pitre A, Arnskötter F, Zindy F, Jones A, Twarog NR, Mayasundari A, Bianski B, Tinkle C, Shirinifard A, Janke L, Lu M, Lewis SA, Onar-Thomas A, Pfister SM, Gajjar A, Baker SJ, Roussel MF, Rankovic Z, Robinson GW, Orr BA, Wainwright B, Shelat AA, Waszak SM, Kutscher LM, Lin H, Northcott PA. Ahmad ST, et al. Among authors: waszak sm. Cancer Cell. 2025 Jun 9;43(6):1141-1158.e11. doi: 10.1016/j.ccell.2025.04.014. Epub 2025 May 15. Cancer Cell. 2025. PMID: 40378836 Free article.
Germline analysis of an international cohort of pediatric diffuse midline glioma patients.
Mateos MK, Ajuyah P, Fuentes-Bolanos N, El-Kamand S, Barahona P, Altekoester AK, Mayoh C, Holliday H, Liu J, Cui L, Pfaff E, Mackay A, Resnick AC, Pinese M, Lau LMS, Khuong-Quang DA, Dias K, Goudie C, Salkeld A, Rokita JL, Jones DTW, Juretic N, Hayden E, Pfister SM, Kramm CM, Blattner-Johnson M, Jabado N, Tsoli M, Vittorio O, Mueller S, Guo Y, Tucker K, Waszak SM, Perreault S, Jones C, Wong-Erasmus M, Cowley MJ, Ziegler DS. Mateos MK, et al. Among authors: waszak sm. Neuro Oncol. 2025 Sep 8;27(7):1849-1863. doi: 10.1093/neuonc/noaf061. Neuro Oncol. 2025. PMID: 40072012 Free PMC article.
Germline pathogenic variation impacts somatic alterations and patient outcomes in pediatric CNS tumors.
Corbett RJ, Kaufman RS, McQuaid SW, Vaksman Z, Phul S, Brown MA, Mason JL, Waszak SM, Zhang B, Zhong C, Blauel E, Desai H, Hausler R, Naqvi AS, Daggett JM, Sickler A, Cresswell-Clay EC, Sullivan PJ, Chroni A, Geng Z, Gonzalez EM, Zhu Y, Heath AP, Li M; Penn Medicine BioBank; Regeneron Genetics Center; Storm PB, Resnick AC, Maxwell KN, Cole KA, Waanders AJ, Bornhorst M, MacFarland SP, Rokita JL, Diskin SJ. Corbett RJ, et al. Among authors: waszak sm. medRxiv [Preprint]. 2025 Jul 23:2025.02.04.25321499. doi: 10.1101/2025.02.04.25321499. medRxiv. 2025. Update in: Nat Commun. 2025 Nov 21;16(1):10282. doi: 10.1038/s41467-025-65190-4. PMID: 39974082 Free PMC article. Updated. Preprint.
The Germline and Somatic Origins of Prostate Cancer Heterogeneity.
Yamaguchi TN, Houlahan KE, Zhu H, Kurganovs N, Livingstone J, Fox NS, Yuan J, Sietsma Penington J, Jung CH, Schwarz T, Jaratlerdsiri W, van Riet J, Georgeson P, Mangiola S, Taraszka K, Lesurf R, Jiang J, Chow K, Heisler LE, Shiah YJ, Ramanand SG, Clarkson MJ, Nguyen A, Espiritu SMG, Stuchbery R, Jovelin R, Huang V, Bell C, O'Connor E, McCoy PJ, Lalansingh CM, Cmero M, Salcedo A, Chan EKF, Liu LY, Stricker PD, Bhandari V, Bornman RMS, Sendorek DHS, Lonie A, Prokopec SD, Fraser M, Peters JS, Foucal A, Mutambirwa SBA, Mcintosh L, Orain M, Wakefield M, Picard V, Park DJ, Hovington H, Kerger M, Bergeron A, Sabelnykova V, Seo JH, Pomerantz MM, Zaitlen N, Waszak SM, Gusev A, Lacombe L, Fradet Y, Ryan A, Kishan AU, Lolkema MP, Weischenfeldt J, Têtu B, Costello AJ, Hayes VM, Hung RJ, He HH, McPherson JD, Pasaniuc B, van der Kwast T, Papenfuss AT, Freedman ML, Pope BJ, Bristow RG, Mani RS, Corcoran NM, Reimand J, Hovens CM, Boutros PC. Yamaguchi TN, et al. Among authors: waszak sm. Cancer Discov. 2025 May 2;15(5):988-1017. doi: 10.1158/2159-8290.CD-23-0882. Cancer Discov. 2025. PMID: 39945744 Free PMC article.
Genetic ancestry superpopulations show distinct prevalence and outcomes across pediatric central nervous system tumors from the Pediatric Brain Tumor Atlas and Pediatric Neuro-Oncology Consortium.
Corbett RJ, Gullickson CC, Geng Z, Brown MA, Zhang B, Zhong C, Van Kuren N, Chroni A, Blackden C, Naqvi AS, Plisiewicz A, McHugh S, Drake E, Lehmann K, Davidson TB, Prados M, Storm PB, Resnick AC, Waanders AJ, Waszak SM, Mueller S, Rokita JL, Kline C. Corbett RJ, et al. Among authors: waszak sm. Neuro Oncol. 2025 Jun 21;27(5):1356-1371. doi: 10.1093/neuonc/noaf017. Neuro Oncol. 2025. PMID: 39847453 Free PMC article.
Everolimus for Children With Recurrent or Progressive Low-Grade Glioma: Results From the Phase II PNOC001 Trial.
Haas-Kogan DA, Aboian MS, Minturn JE, Leary SES, Abdelbaki MS, Goldman S, Elster JD, Kraya A, Lueder MR, Ramakrishnan D, von Reppert M, Liu KX, Rokita JL, Resnick AC, Solomon DA, Phillips JJ, Prados M, Molinaro AM, Waszak SM, Mueller S. Haas-Kogan DA, et al. Among authors: waszak sm. J Clin Oncol. 2024 Feb 1;42(4):441-451. doi: 10.1200/JCO.23.01838. Epub 2023 Nov 17. J Clin Oncol. 2024. PMID: 37978951 Free PMC article. Clinical Trial.
Clinical, genomic, and epigenomic analyses of H3K27M-mutant diffuse midline glioma long-term survivors reveal a distinct group of tumors with MAPK pathway alterations.
Roberts HJ, Ji S, Picca A, Sanson M, Garcia M, Snuderl M, Schüller U, Picart T, Ducray F, Green AL, Nakano Y, Sturm D, Abdullaev Z, Aldape K, Dang D, Kumar-Sinha C, Wu YM, Robinson D, Vo JN, Chinnaiyan AM, Cartaxo R, Upadhyaya SA, Mody R, Chiang J, Baker S, Solomon D, Venneti S, Pratt D, Waszak SM, Koschmann C. Roberts HJ, et al. Among authors: waszak sm. Acta Neuropathol. 2023 Dec;146(6):849-852. doi: 10.1007/s00401-023-02640-7. Epub 2023 Oct 18. Acta Neuropathol. 2023. PMID: 37851269 Free PMC article. No abstract available.
Pan-cancer atlas of somatic core and linker histone mutations.
Bonner ER, Dawood A, Gordish-Dressman H, Eze A, Bhattacharya S, Yadavilli S, Mueller S, Waszak SM, Nazarian J. Bonner ER, et al. Among authors: waszak sm. NPJ Genom Med. 2023 Aug 28;8(1):23. doi: 10.1038/s41525-023-00367-8. NPJ Genom Med. 2023. PMID: 37640703 Free PMC article.
Clinical Efficacy of ONC201 in H3K27M-Mutant Diffuse Midline Gliomas Is Driven by Disruption of Integrated Metabolic and Epigenetic Pathways.
Venneti S, Kawakibi AR, Ji S, Waszak SM, Sweha SR, Mota M, Pun M, Deogharkar A, Chung C, Tarapore RS, Ramage S, Chi A, Wen PY, Arrillaga-Romany I, Batchelor TT, Butowski NA, Sumrall A, Shonka N, Harrison RA, de Groot J, Mehta M, Hall MD, Daghistani D, Cloughesy TF, Ellingson BM, Beccaria K, Varlet P, Kim MM, Umemura Y, Garton H, Franson A, Schwartz J, Jain R, Kachman M, Baum H, Burant CF, Mottl SL, Cartaxo RT, John V, Messinger D, Qin T, Peterson E, Sajjakulnukit P, Ravi K, Waugh A, Walling D, Ding Y, Xia Z, Schwendeman A, Hawes D, Yang F, Judkins AR, Wahl D, Lyssiotis CA, de la Nava D, Alonso MM, Eze A, Spitzer J, Schmidt SV, Duchatel RJ, Dun MD, Cain JE, Jiang L, Stopka SA, Baquer G, Regan MS, Filbin MG, Agar NYR, Zhao L, Kumar-Sinha C, Mody R, Chinnaiyan A, Kurokawa R, Pratt D, Yadav VN, Grill J, Kline C, Mueller S, Resnick A, Nazarian J, Allen JE, Odia Y, Gardner SL, Koschmann C. Venneti S, et al. Among authors: waszak sm. Cancer Discov. 2023 Nov 1;13(11):2370-2393. doi: 10.1158/2159-8290.CD-23-0131. Cancer Discov. 2023. PMID: 37584601 Free PMC article.
Clinical outcome of pediatric medulloblastoma patients with Li-Fraumeni syndrome.
Kolodziejczak AS, Guerrini-Rousseau L, Planchon JM, Ecker J, Selt F, Mynarek M, Obrecht D, Sill M, Autry RJ, Stutheit-Zhao E, Hirsch S, Amouyal E, Dufour C, Ayrault O, Torrejon J, Waszak SM, Ramaswamy V, Pentikainen V, Demir HA, Clifford SC, Schwalbe EC, Massimi L, Snuderl M, Galbraith K, Karajannis MA, Hill K, Li BK, Walsh M, White CL, Redmond S, Loizos L, Jakob M, Kordes UR, Schmid I, Hauer J, Blattmann C, Filippidou M, Piccolo G, Scheurlen W, Farrag A, Grund K, Sutter C, Pietsch T, Frank S, Schewe DM, Malkin D, Ben-Arush M, Sehested A, Wong TT, Wu KS, Liu YL, Carceller F, Mueller S, Stoller S, Taylor MD, Tabori U, Bouffet E, Kool M, Sahm F, von Deimling A, Korshunov A, von Hoff K, Kratz CP, Sturm D, Jones DTW, Rutkowski S, van Tilburg CM, Witt O, Bougeard G, Pajtler KW, Pfister SM, Bourdeaut F, Milde T. Kolodziejczak AS, et al. Among authors: waszak sm. Neuro Oncol. 2023 Dec 8;25(12):2273-2286. doi: 10.1093/neuonc/noad114. Neuro Oncol. 2023. PMID: 37379234 Free PMC article.
Enterosignatures define common bacterial guilds in the human gut microbiome.
Frioux C, Ansorge R, Özkurt E, Ghassemi Nedjad C, Fritscher J, Quince C, Waszak SM, Hildebrand F. Frioux C, et al. Among authors: waszak sm. Cell Host Microbe. 2023 Jul 12;31(7):1111-1125.e6. doi: 10.1016/j.chom.2023.05.024. Epub 2023 Jun 19. Cell Host Microbe. 2023. PMID: 37339626 Free article.
ONC201 in Combination with Paxalisib for the Treatment of H3K27-Altered Diffuse Midline Glioma.
Jackson ER, Duchatel RJ, Staudt DE, Persson ML, Mannan A, Yadavilli S, Parackal S, Game S, Chong WC, Jayasekara WSN, Grand ML, Kearney PS, Douglas AM, Findlay IJ, Germon ZP, McEwen HP, Beitaki TS, Patabendige A, Skerrett-Byrne DA, Nixon B, Smith ND, Day B, Manoharan N, Nagabushan S, Hansford JR, Govender D, McCowage GB, Firestein R, Howlett M, Endersby R, Gottardo NG, Alvaro F, Waszak SM, Larsen MR, Colino-Sanguino Y, Valdes-Mora F, Rakotomalala A, Meignan S, Pasquier E, André N, Hulleman E, Eisenstat DD, Vitanza NA, Nazarian J, Koschmann C, Mueller S, Cain JE, Dun MD. Jackson ER, et al. Among authors: waszak sm. Cancer Res. 2023 May 17:OF1-OF17. doi: 10.1158/0008-5472.CAN-23-0186. Online ahead of print. Cancer Res. 2023. PMID: 37195023 Free article.
ONC201 in combination with paxalisib for the treatment of H3K27-altered diffuse midline glioma.
Jackson ER, Duchatel RJ, Staudt DE, Persson ML, Mannan A, Yadavilli S, Parackal S, Game S, Chong WC, Jayasekara WSN, Le Grand M, Kearney PS, Douglas AM, Findlay IJ, Germon ZP, McEwen HP, Beitaki TS, Patabendige A, Skerrett-Byrne DA, Nixon B, Smith ND, Day B, Manoharan N, Nagabushan S, Hansford JR, Govender D, McCowage GB, Firestein R, Howlett M, Endersby R, Gottardo NG, Alvaro F, Waszak SM, Larsen MR, Colino-Sanguino Y, Valdés-Mora F, Rakotomalala A, Meignan S, Pasquier E, Andre N, Hulleman E, Eisenstat DD, Vitanza NA, Nazarian J, Koschmann C, Mueller S, Cain JE, Dun MD. Jackson ER, et al. Among authors: waszak sm. Cancer Res. 2023 May 5;83(14):2421-37. doi: 10.1158/0008-5472.CAN-23-0186. Online ahead of print. Cancer Res. 2023. PMID: 37145169 Free PMC article.
Reply to Li and Colleagues.
Kratz CP, Smirnov D, Autry R, Jäger N, Waszak SM, Großhennig A, Berutti R, Wendorff M, Hainaut P, Pfister SM, Prokisch H, Ripperger T, Malkin D. Kratz CP, et al. Among authors: waszak sm. J Natl Cancer Inst. 2023 Jun 8;115(6):760-761. doi: 10.1093/jnci/djad057. J Natl Cancer Inst. 2023. PMID: 37004196 Free PMC article. No abstract available.
A polygenic two-hit hypothesis for prostate cancer.
Houlahan KE, Livingstone J, Fox NS, Kurganovs N, Zhu H, Sietsma Penington J, Jung CH, Yamaguchi TN, Heisler LE, Jovelin R, Costello AJ, Pope BJ, Kishan AU, Corcoran NM, Bristow RG, Waszak SM, Weischenfeldt J, He HH, Hung RJ, Hovens CM, Boutros PC. Houlahan KE, et al. Among authors: waszak sm. J Natl Cancer Inst. 2023 Apr 11;115(4):468-472. doi: 10.1093/jnci/djad001. J Natl Cancer Inst. 2023. PMID: 36610996 Free PMC article.
Reply to Evans and Woodward.
Kratz CP, Smirnov D, Autry R, Jäger N, Waszak SM, Großhennig A, Berutti R, Wendorff M, Hainaut P, Pfister SM, Prokisch H, Ripperger T, Malkin D. Kratz CP, et al. Among authors: waszak sm. J Natl Cancer Inst. 2023 Feb 8;115(2):231-232. doi: 10.1093/jnci/djac224. J Natl Cancer Inst. 2023. PMID: 36495208 Free PMC article. No abstract available.
Upfront Biology-Guided Therapy in Diffuse Intrinsic Pontine Glioma: Therapeutic, Molecular, and Biomarker Outcomes from PNOC003.
Kline C, Jain P, Kilburn L, Bonner ER, Gupta N, Crawford JR, Banerjee A, Packer RJ, Villanueva-Meyer J, Luks T, Zhang Y, Kambhampati M, Zhang J, Yadavilli S, Zhang B, Gaonkar KS, Rokita JL, Kraya A, Kuhn J, Liang W, Byron S, Berens M, Molinaro A, Prados M, Resnick A, Waszak SM, Nazarian J, Mueller S. Kline C, et al. Among authors: waszak sm. Clin Cancer Res. 2022 Sep 15;28(18):3965-3978. doi: 10.1158/1078-0432.CCR-22-0803. Clin Cancer Res. 2022. PMID: 35852795 Free PMC article.
Cancer risk and tumour spectrum in 172 patients with a germline SUFU pathogenic variation: a collaborative study of the SIOPE Host Genome Working Group.
Guerrini-Rousseau L, Masliah-Planchon J, Waszak SM, Alhopuro P, Benusiglio PR, Bourdeaut F, Brecht IB, Del Baldo G, Dhanda SK, Garrè ML, Gidding CEM, Hirsch S, Hoarau P, Jorgensen M, Kratz C, Lafay-Cousin L, Mastronuzzi A, Pastorino L, Pfister SM, Schroeder C, Smith MJ, Vahteristo P, Vibert R, Vilain C, Waespe N, Winship IM, Evans DG, Brugieres L. Guerrini-Rousseau L, et al. Among authors: waszak sm. J Med Genet. 2022 Jun 29;59(11):1123-32. doi: 10.1136/jmedgenet-2021-108385. Online ahead of print. J Med Genet. 2022. PMID: 35768194 Free PMC article.
Rare Germline Variants Are Associated with Rapid Biochemical Recurrence After Radical Prostate Cancer Treatment: A Pan Prostate Cancer Group Study.
Burns D, Anokian E, Saunders EJ, Bristow RG, Fraser M, Reimand J, Schlomm T, Sauter G, Brors B, Korbel J, Weischenfeldt J, Waszak SM, Corcoran NM, Jung CH, Pope BJ, Hovens CM, Cancel-Tassin G, Cussenot O, Loda M, Sander C, Hayes VM, Dalsgaard Sorensen K, Lu YJ, Hamdy FC, Foster CS, Gnanapragasam V, Butler A, Lynch AG, Massie CE; CR-UK/Prostate Cancer UK, ICGC, The PPCG; Woodcock DJ, Cooper CS, Wedge DC, Brewer DS, Kote-Jarai Z, Eeles RA. Burns D, et al. Among authors: waszak sm. Eur Urol. 2022 Aug;82(2):201-211. doi: 10.1016/j.eururo.2022.05.007. Epub 2022 May 31. Eur Urol. 2022. PMID: 35659150 Free article.
Therapeutic targeting of prenatal pontine ID1 signaling in diffuse midline glioma.
Messinger D, Harris MK, Cummings JR, Thomas C, Yang T, Sweha SR, Woo R, Siddaway R, Burkert M, Stallard S, Qin T, Mullan B, Siada R, Ravindran R, Niculcea M, Dowling AR, Bradin J, Ginn KF, Gener MAH, Dorris K, Vitanza NA, Schmidt SV, Spitzer J, Li J, Filbin MG, Cao X, Castro MG, Lowenstein PR, Mody R, Chinnaiyan A, Desprez PY, McAllister S, Dun MD, Hawkins C, Waszak SM, Venneti S, Koschmann C, Yadav VN. Messinger D, et al. Among authors: waszak sm. Neuro Oncol. 2023 Jan 5;25(1):54-67. doi: 10.1093/neuonc/noac141. Neuro Oncol. 2023. PMID: 35605606 Free PMC article.
A leukemia-protective germline variant mediates chromatin module formation via transcription factor nucleation.
Llimos G, Gardeux V, Koch U, Kribelbauer JF, Hafner A, Alpern D, Pezoldt J, Litovchenko M, Russeil J, Dainese R, Moia R, Mahmoud AM, Rossi D, Gaidano G, Plass C, Lutsik P, Gerhauser C, Waszak SM, Boettiger A, Radtke F, Deplancke B. Llimos G, et al. Among authors: waszak sm. Nat Commun. 2022 Apr 19;13(1):2042. doi: 10.1038/s41467-022-29625-6. Nat Commun. 2022. PMID: 35440565 Free PMC article.
Imipridones affect tumor bioenergetics and promote cell lineage differentiation in diffuse midline gliomas.
Przystal JM, Cianciolo Cosentino C, Yadavilli S, Zhang J, Laternser S, Bonner ER, Prasad R, Dawood AA, Lobeto N, Chin Chong W, Biery MC, Myers C, Olson JM, Panditharatna E, Kritzer B, Mourabit S, Vitanza NA, Filbin MG, de Iuliis GN, Dun MD, Koschmann C, Cain JE, Grotzer MA, Waszak SM, Mueller S, Nazarian J. Przystal JM, et al. Among authors: waszak sm. Neuro Oncol. 2022 Sep 1;24(9):1438-1451. doi: 10.1093/neuonc/noac041. Neuro Oncol. 2022. PMID: 35157764 Free PMC article.
Mutational mechanisms shaping the coding and noncoding genome of germinal center derived B-cell lymphomas.
Hübschmann D, Kleinheinz K, Wagener R, Bernhart SH, López C, Toprak UH, Sungalee S, Ishaque N, Kretzmer H, Kreuz M, Waszak SM, Paramasivam N, Ammerpohl O, Aukema SM, Beekman R, Bergmann AK, Bieg M, Binder H, Borkhardt A, Borst C, Brors B, Bruns P, Carrillo de Santa Pau E, Claviez A, Doose G, Haake A, Karsch D, Haas S, Hansmann ML, Hoell JI, Hovestadt V, Huang B, Hummel M, Jäger-Schmidt C, Kerssemakers JNA, Korbel JO, Kube D, Lawerenz C, Lenze D, Martens JHA, Ott G, Radlwimmer B, Reisinger E, Richter J, Rico D, Rosenstiel P, Rosenwald A, Schillhabel M, Stilgenbauer S, Stadler PF, Martín-Subero JI, Szczepanowski M, Warsow G, Weniger MA, Zapatka M, Valencia A, Stunnenberg HG, Lichter P, Möller P, Loeffler M, Eils R, Klapper W, Hoffmann S, Trümper L; ICGC MMML-Seq consortium; ICGC DE-Mining consortium; BLUEPRINT consortium; Küppers R, Schlesner M, Siebert R. Hübschmann D, et al. Among authors: waszak sm. Leukemia. 2021 Jul;35(7):2002-2016. doi: 10.1038/s41375-021-01251-z. Epub 2021 May 5. Leukemia. 2021. PMID: 33953289 Free PMC article.
Versatile workflow for cell type-resolved transcriptional and epigenetic profiles from cryopreserved human lung.
Llamazares-Prada M, Espinet E, Mijošek V, Schwartz U, Lutsik P, Tamas R, Richter M, Behrendt A, Pohl ST, Benz NP, Muley T, Warth A, Heußel CP, Winter H, Landry JJM, Herth FJ, Mertens TC, Karmouty-Quintana H, Koch I, Benes V, Korbel JO, Waszak SM, Trumpp A, Wyatt DM, Stahl HF, Plass C, Jurkowska RZ. Llamazares-Prada M, et al. Among authors: waszak sm. JCI Insight. 2021 Mar 22;6(6):e140443. doi: 10.1172/jci.insight.140443. JCI Insight. 2021. PMID: 33630765 Free PMC article.
Retrospective evaluation of whole exome and genome mutation calls in 746 cancer samples.
Bailey MH, Meyerson WU, Dursi LJ, Wang LB, Dong G, Liang WW, Weerasinghe A, Li S, Li Y, Kelso S; MC3 Working Group; PCAWG novel somatic mutation calling methods working group; Saksena G, Ellrott K, Wendl MC, Wheeler DA, Getz G, Simpson JT, Gerstein MB, Ding L; PCAWG Consortium. Bailey MH, et al. Nat Commun. 2020 Sep 21;11(1):4748. doi: 10.1038/s41467-020-18151-y. Nat Commun. 2020. PMID: 32958763 Free PMC article.
Sex differences in oncogenic mutational processes.
Li CH, Prokopec SD, Sun RX, Yousif F, Schmitz N; PCAWG Tumour Subtypes and Clinical Translation; Boutros PC; PCAWG Consortium. Li CH, et al. Nat Commun. 2020 Aug 28;11(1):4330. doi: 10.1038/s41467-020-17359-2. Nat Commun. 2020. PMID: 32859912 Free PMC article.
Chromatin accessibility landscape of pediatric T-lymphoblastic leukemia and human T-cell precursors.
Erarslan-Uysal B, Kunz JB, Rausch T, Richter-Pechańska P, van Belzen IA, Frismantas V, Bornhauser B, Ordoñez-Rueada D, Paulsen M, Benes V, Stanulla M, Schrappe M, Cario G, Escherich G, Bakharevich K, Kirschner-Schwabe R, Eckert C, Loukanov T, Gorenflo M, Waszak SM, Bourquin JP, Muckenthaler MU, Korbel JO, Kulozik AE. Erarslan-Uysal B, et al. Among authors: waszak sm. EMBO Mol Med. 2020 Sep 7;12(9):e12104. doi: 10.15252/emmm.202012104. Epub 2020 Aug 5. EMBO Mol Med. 2020. PMID: 32755029 Free PMC article.
Germline Elongator mutations in Sonic Hedgehog medulloblastoma.
Waszak SM, Robinson GW, Gudenas BL, Smith KS, Forget A, Kojic M, Garcia-Lopez J, Hadley J, Hamilton KV, Indersie E, Buchhalter I, Kerssemakers J, Jäger N, Sharma T, Rausch T, Kool M, Sturm D, Jones DTW, Vasilyeva A, Tatevossian RG, Neale G, Lombard B, Loew D, Nakitandwe J, Rusch M, Bowers DC, Bendel A, Partap S, Chintagumpala M, Crawford J, Gottardo NG, Smith A, Dufour C, Rutkowski S, Eggen T, Wesenberg F, Kjaerheim K, Feychting M, Lannering B, Schüz J, Johansen C, Andersen TV, Röösli M, Kuehni CE, Grotzer M, Remke M, Puget S, Pajtler KW, Milde T, Witt O, Ryzhova M, Korshunov A, Orr BA, Ellison DW, Brugieres L, Lichter P, Nichols KE, Gajjar A, Wainwright BJ, Ayrault O, Korbel JO, Northcott PA, Pfister SM. Waszak SM, et al. Nature. 2020 Apr;580(7803):396-401. doi: 10.1038/s41586-020-2164-5. Epub 2020 Apr 1. Nature. 2020. PMID: 32296180 Free PMC article.
Genomic basis for RNA alterations in cancer.
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NCoR1: Putting the Brakes on the Dendritic Cell Immune Tolerance.
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A cell-based model system links chromothripsis with hyperploidy.
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Genomic variation and its impact on gene expression in Drosophila melanogaster.
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Personal receptor repertoires: olfaction as a model.
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Variation in transcription factor binding among humans.
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