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Page 1
Unravelling undiagnosed rare disease cases by HiFi long-read genome sequencing.
Steyaert W, Sagath L, Demidov G, Yépez VA, Esteve-Codina A, Gagneur J, Ellwanger K, Derks R, Weiss M, den Ouden A, van den Heuvel S, Swinkels H, Zomer N, Steehouwer M, O'Gorman L, Astuti G, Neveling K, Schüle R, Xu J, Synofzik M, Beijer D, Hengel H, Schöls L, Claeys KG, Baets J, Van de Vondel L, Ferlini A, Selvatici R, Morsy H, Saeed Abd Elmaksoud M, Straub V, Müller J, Pini V, Perry L, Sarkozy A, Zaharieva I, Muntoni F, Bugiardini E, Polavarapu K, Horvath R, Reid E, Lochmüller H, Spinazzi M, Savarese M; Solve-RD DITF-ITHACA; Solve-RD DITF-Euro-NMD; Solve-RD DITF-RND; Solve-RD DITF-EpiCARE; Matalonga L, Laurie S, Brunner HG, Graessner H, Beltran S, Ossowski S, Vissers LELM, Gilissen C, Hoischen A. Steyaert W, et al. Among authors: demidov g. medRxiv [Preprint]. 2024 May 4:2024.05.03.24305331. doi: 10.1101/2024.05.03.24305331. medRxiv. 2024. PMID: 38746462 Free PMC article. Preprint.
The landscape of viral associations in human cancers.
Zapatka M, Borozan I, Brewer DS, Iskar M, Grundhoff A, Alawi M, Desai N, Sültmann H, Moch H; PCAWG Pathogens; Cooper CS, Eils R, Ferretti V, Lichter P; PCAWG Consortium. Zapatka M, et al. Nat Genet. 2020 Mar;52(3):320-330. doi: 10.1038/s41588-019-0558-9. Epub 2020 Feb 5. Nat Genet. 2020. PMID: 32025001 Free PMC article.
Author Correction: The evolutionary history of 2,658 cancers.
Gerstung M, Jolly C, Leshchiner I, Dentro SC, Gonzalez S, Rosebrock D, Mitchell TJ, Rubanova Y, Anur P, Yu K, Tarabichi M, Deshwar A, Wintersinger J, Kleinheinz K, Vázquez-García I, Haase K, Jerman L, Sengupta S, Macintyre G, Malikic S, Donmez N, Livitz DG, Cmero M, Demeulemeester J, Schumacher S, Fan Y, Yao X, Lee J, Schlesner M, Boutros PC, Bowtell DD, Zhu H, Getz G, Imielinski M, Beroukhim R, Sahinalp SC, Ji Y, Peifer M, Markowetz F, Mustonen V, Yuan K, Wang W, Morris QD; PCAWG Evolution & Heterogeneity Working Group; Spellman PT, Wedge DC, Van Loo P; PCAWG Consortium. Gerstung M, et al. Nature. 2023 Feb;614(7948):E42. doi: 10.1038/s41586-022-05601-4. Nature. 2023. PMID: 36697833 Free PMC article. No abstract available.
Author Correction: Pan-cancer analysis of whole genomes identifies driver rearrangements promoted by LINE-1 retrotransposition.
Rodriguez-Martin B, Alvarez EG, Baez-Ortega A, Zamora J, Supek F, Demeulemeester J, Santamarina M, Ju YS, Temes J, Garcia-Souto D, Detering H, Li Y, Rodriguez-Castro J, Dueso-Barroso A, Bruzos AL, Dentro SC, Blanco MG, Contino G, Ardeljan D, Tojo M, Roberts ND, Zumalave S, Edwards PA, Weischenfeldt J, Puiggròs M, Chong Z, Chen K, Lee EA, Wala JA, Raine KM, Butler A, Waszak SM, Navarro FCP, Schumacher SE, Monlong J, Maura F, Bolli N, Bourque G, Gerstein M, Park PJ, Wedge DC, Beroukhim R, Torrents D, Korbel JO, Martincorena I, Fitzgerald RC, Van Loo P, Kazazian HH, Burns KH; PCAWG Structural Variation Working Group; Campbell PJ, Tubio JMC; PCAWG Consortium. Rodriguez-Martin B, et al. Nat Genet. 2023 Jun;55(6):1080. doi: 10.1038/s41588-023-01319-9. Nat Genet. 2023. PMID: 36944736 Free PMC article. No abstract available.
Patterns of somatic structural variation in human cancer genomes.
Li Y, Roberts ND, Wala JA, Shapira O, Schumacher SE, Kumar K, Khurana E, Waszak S, Korbel JO, Haber JE, Imielinski M; PCAWG Structural Variation Working Group; Weischenfeldt J, Beroukhim R, Campbell PJ; PCAWG Consortium. Li Y, et al. Nature. 2020 Feb;578(7793):112-121. doi: 10.1038/s41586-019-1913-9. Epub 2020 Feb 5. Nature. 2020. PMID: 32025012 Free PMC article.
The evolutionary history of 2,658 cancers.
Gerstung M, Jolly C, Leshchiner I, Dentro SC, Gonzalez S, Rosebrock D, Mitchell TJ, Rubanova Y, Anur P, Yu K, Tarabichi M, Deshwar A, Wintersinger J, Kleinheinz K, Vázquez-García I, Haase K, Jerman L, Sengupta S, Macintyre G, Malikic S, Donmez N, Livitz DG, Cmero M, Demeulemeester J, Schumacher S, Fan Y, Yao X, Lee J, Schlesner M, Boutros PC, Bowtell DD, Zhu H, Getz G, Imielinski M, Beroukhim R, Sahinalp SC, Ji Y, Peifer M, Markowetz F, Mustonen V, Yuan K, Wang W, Morris QD; PCAWG Evolution & Heterogeneity Working Group; Spellman PT, Wedge DC, Van Loo P; PCAWG Consortium. Gerstung M, et al. Nature. 2020 Feb;578(7793):122-128. doi: 10.1038/s41586-019-1907-7. Epub 2020 Feb 6. Nature. 2020. PMID: 32025013 Free PMC article.
Cancer immune control needs senescence induction by interferon-dependent cell cycle regulator pathways in tumours.
Brenner E, Schörg BF, Ahmetlić F, Wieder T, Hilke FJ, Simon N, Schroeder C, Demidov G, Riedel T, Fehrenbacher B, Schaller M, Forschner A, Eigentler T, Niessner H, Sinnberg T, Böhm KS, Hömberg N, Braumüller H, Dauch D, Zwirner S, Zender L, Sonanini D, Geishauser A, Bauer J, Eichner M, Jarick KJ, Beilhack A, Biskup S, Döcker D, Schadendorf D, Quintanilla-Martinez L, Pichler BJ, Kneilling M, Mocikat R, Röcken M. Brenner E, et al. Among authors: demidov g. Nat Commun. 2020 Mar 12;11(1):1335. doi: 10.1038/s41467-020-14987-6. Nat Commun. 2020. PMID: 32165639 Free PMC article.
The repertoire of mutational signatures in human cancer.
Alexandrov LB, Kim J, Haradhvala NJ, Huang MN, Tian Ng AW, Wu Y, Boot A, Covington KR, Gordenin DA, Bergstrom EN, Islam SMA, Lopez-Bigas N, Klimczak LJ, McPherson JR, Morganella S, Sabarinathan R, Wheeler DA, Mustonen V; PCAWG Mutational Signatures Working Group; Getz G, Rozen SG, Stratton MR; PCAWG Consortium. Alexandrov LB, et al. Nature. 2020 Feb;578(7793):94-101. doi: 10.1038/s41586-020-1943-3. Epub 2020 Feb 5. Nature. 2020. PMID: 32025018 Free PMC article.
Pathway and network analysis of more than 2500 whole cancer genomes.
Reyna MA, Haan D, Paczkowska M, Verbeke LPC, Vazquez M, Kahraman A, Pulido-Tamayo S, Barenboim J, Wadi L, Dhingra P, Shrestha R, Getz G, Lawrence MS, Pedersen JS, Rubin MA, Wheeler DA, Brunak S, Izarzugaza JMG, Khurana E, Marchal K, von Mering C, Sahinalp SC, Valencia A; PCAWG Drivers and Functional Interpretation Working Group; Reimand J, Stuart JM, Raphael BJ; PCAWG Consortium. Reyna MA, et al. Nat Commun. 2020 Feb 5;11(1):729. doi: 10.1038/s41467-020-14367-0. Nat Commun. 2020. PMID: 32024854 Free PMC article.
Inferring structural variant cancer cell fraction.
Cmero M, Yuan K, Ong CS, Schröder J; PCAWG Evolution and Heterogeneity Working Group; Corcoran NM, Papenfuss T, Hovens CM, Markowetz F, Macintyre G; PCAWG Consortium. Cmero M, et al. Nat Commun. 2020 Feb 5;11(1):730. doi: 10.1038/s41467-020-14351-8. Nat Commun. 2020. PMID: 32024845 Free PMC article.
119 results