178 high-probability publications. We are testing a new system for linking publications to authors. You can help! If you notice any inaccuracies, please sign in and mark papers as correct or incorrect matches. If you identify any major omissions or other inaccuracies in the publication list, please let us know.

Year Citation  Score
2023 Grochowski CM, Bengtsson JD, Du H, Gandhi M, Lun MY, Mehaffey MG, Park K, Höps W, Benito-Garagorri E, Hasenfeld P, Korbel JO, Mahmoud M, Paulin LF, Jhangiani SN, Muzny DM, et al. Break-induced replication underlies formation of inverted triplications and generates unexpected diversity in haplotype structures. Biorxiv : the Preprint Server For Biology. PMID 37873367 DOI: 10.1101/2023.10.02.560172  0.647
2023 Weber T, Cosenza MR, Korbel J. MosaiCatcher v2: a single-cell structural variations detection and analysis reference framework based on Strand-seq. Bioinformatics (Oxford, England). PMID 37851409 DOI: 10.1093/bioinformatics/btad633  0.336
2023 Hallast P, Ebert P, Loftus M, Yilmaz F, Audano PA, Logsdon GA, Bonder MJ, Zhou W, Höps W, Kim K, Li C, Hoyt SJ, Dishuck PC, Porubsky D, Tsetsos F, ... ... Korbel JO, et al. Assembly of 43 human Y chromosomes reveals extensive complexity and variation. Nature. PMID 37612510 DOI: 10.1038/s41586-023-06425-6  0.351
2023 Weber T, Cosenza MR, Korbel J. MosaiCatcher v2: a single-cell structural variations detection and analysis reference framework based on Strand-seq. Biorxiv : the Preprint Server For Biology. PMID 37503087 DOI: 10.1101/2023.07.13.548805  0.347
2023 Liao WW, Asri M, Ebler J, Doerr D, Haukness M, Hickey G, Lu S, Lucas JK, Monlong J, Abel HJ, Buonaiuto S, Chang XH, Cheng H, Chu J, Colonna V, ... ... Korbel JO, et al. A draft human pangenome reference. Nature. 617: 312-324. PMID 37165242 DOI: 10.1038/s41586-023-05896-x  0.344
2023 Porubsky D, Vollger MR, Harvey WT, Rozanski AN, Ebert P, Hickey G, Hasenfeld P, Sanders AD, Stober C, Korbel JO, Paten B, Marschall T, Eichler EE. Gaps and complex structurally variant loci in phased genome assemblies. Genome Research. 33: 496-510. PMID 37164484 DOI: 10.1101/gr.277334.122  0.357
2023 Porubsky D, Harvey WT, Rozanski AN, Ebler J, Höps W, Ashraf H, Hasenfeld P, Paten B, Sanders AD, Marschall T, Korbel JO, Eichler EE. Inversion polymorphism in a complete human genome assembly. Genome Biology. 24: 100. PMID 37122002 DOI: 10.1186/s13059-023-02919-8  0.369
2023 Yakneen S, Waszak SM, Gertz M, Korbel JO. Author Correction: Butler enables rapid cloud-based analysis of thousands of human genomes. Nature Biotechnology. PMID 36944844 DOI: 10.1038/s41587-022-01554-1  0.337
2023 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, ... ... Korbel JO, et al. Author Correction: Pan-cancer analysis of whole genomes identifies driver rearrangements promoted by LINE-1 retrotransposition. Nature Genetics. PMID 36944736 DOI: 10.1038/s41588-023-01319-9  0.49
2022 Jarvis ED, Formenti G, Rhie A, Guarracino A, Yang C, Wood J, Tracey A, Thibaud-Nissen F, Vollger MR, Porubsky D, Cheng H, Asri M, Logsdon GA, Carnevali P, Chaisson MJP, ... ... Korbel JO, et al. Semi-automated assembly of high-quality diploid human reference genomes. Nature. PMID 36261518 DOI: 10.1038/s41586-022-05325-5  0.394
2022 Mercuri L, Palmisano D, L'Abbate A, D'Addabbo P, Montinaro F, Catacchio CR, Hasenfeld P, Ventura M, Korbel JO, Sanders AD, Maggiolini FAM, Antonacci F. A high-resolution map of small-scale inversions in the gibbon genome. Genome Research. PMID 36180231 DOI: 10.1101/gr.276960.122  0.415
2022 Cosenza MR, Rodriguez-Martin B, Korbel JO. Structural Variation in Cancer: Role, Prevalence, and Mechanisms. Annual Review of Genomics and Human Genetics. PMID 35655332 DOI: 10.1146/annurev-genom-120121-101149  0.342
2022 Porubsky D, Höps W, Ashraf H, Hsieh P, Rodriguez-Martin B, Yilmaz F, Ebler J, Hallast P, Maria Maggiolini FA, Harvey WT, Henning B, Audano PA, Gordon DS, Ebert P, Hasenfeld P, ... ... Korbel JO, et al. Recurrent inversion polymorphisms in humans associate with genetic instability and genomic disorders. Cell. PMID 35525246 DOI: 10.1016/j.cell.2022.04.017  0.399
2022 Lopez C, Schleussner N, Bernhart SH, Kleinheinz K, Sungalee S, Sczakiel HL, Kretzmer H, Toprak UH, Glaser S, Wagener R, Ammerpohl O, Bens S, Giefing M, Sanchez JCG, Apic G, ... ... Korbel JO, et al. Focal structural variants revealed by whole genome sequencing disrupt the histone demethylase in B cell lymphomas. Haematologica. PMID 35522148 DOI: 10.3324/haematol.2021.280005  0.354
2022 Ebler J, Ebert P, Clarke WE, Rausch T, Audano PA, Houwaart T, Mao Y, Korbel JO, Eichler EE, Zody MC, Dilthey AT, Marschall T. Pangenome-based genome inference allows efficient and accurate genotyping across a wide spectrum of variant classes. Nature Genetics. 54: 518-525. PMID 35410384 DOI: 10.1038/s41588-022-01043-w  0.39
2022 Noyes MD, Harvey WT, Porubsky D, Sulovari A, Li R, Rose NR, Audano PA, Munson KM, Lewis AP, Hoekzema K, Mantere T, Graves-Lindsay TA, Sanders AD, Goodwin S, Kramer M, ... ... Korbel JO, et al. Familial long-read sequencing increases yield of de novo mutations. American Journal of Human Genetics. PMID 35290762 DOI: 10.1016/j.ajhg.2022.02.014  0.368
2022 Sidiropoulos N, Mardin BR, Rodriguez-Gonzalez FG, Garg S, Stuetz AM, Korbel JO, Aiden EL, Weischenfeldt J. Somatic structural variant formation is guided by and influences genome architecture. Genome Research. PMID 35177558 DOI: 10.1101/gr.275790.121  0.335
2021 Rosswog C, Bartenhagen C, Welte A, Kahlert Y, Hemstedt N, Lorenz W, Cartolano M, Ackermann S, Perner S, Vogel W, Altmüller J, Nürnberg P, Hertwig F, Göhring G, Lilienweiss E, ... ... Korbel JO, et al. Chromothripsis followed by circular recombination drives oncogene amplification in human cancer. Nature Genetics. 53: 1673-1685. PMID 34782764 DOI: 10.1038/s41588-021-00951-7  0.364
2021 Zhao X, Collins RL, Lee WP, Weber AM, Jun Y, Zhu Q, Weisburd B, Huang Y, Audano PA, Wang H, Walker M, Lowther C, Fu J, Gerstein MB, ... ... Korbel JO, et al. Expectations and blind spots for structural variation detection from long-read assemblies and short-read genome sequencing technologies. American Journal of Human Genetics. PMID 33789087 DOI: 10.1016/j.ajhg.2021.03.014  0.572
2021 Ebert P, Audano PA, Zhu Q, Rodriguez-Martin B, Porubsky D, Bonder MJ, Sulovari A, Ebler J, Zhou W, Serra Mari R, Yilmaz F, Zhao X, Hsieh P, Lee J, Kumar S, ... ... Korbel JO, et al. Haplotype-resolved diverse human genomes and integrated analysis of structural variation. Science (New York, N.Y.). PMID 33632895 DOI: 10.1126/science.abf7117  0.565
2020 Salgado D, Armean IM, Baudis M, Beltran S, Capella-Gutierrez S, Carvalho-Silva D, Dominguez Del Angel V, Dopazo J, Furlong LI, Gao B, Garcia L, Gerloff D, Gut I, Gyenesei A, Habermann N, ... ... Korbel J, et al. The ELIXIR Human Copy Number Variations Community: building bioinformatics infrastructure for research. F1000research. 9. PMID 34367618 DOI: 10.12688/f1000research.24887.1  0.318
2020 Warren WC, Harris RA, Haukness M, Fiddes IT, Murali SC, Fernandes J, Dishuck PC, Storer JM, Raveendran M, Hillier LW, Porubsky D, Mao Y, Gordon D, Vollger MR, Lewis AP, ... ... Korbel JO, et al. Sequence diversity analyses of an improved rhesus macaque genome enhance its biomedical utility. Science (New York, N.Y.). 370. PMID 33335035 DOI: 10.1126/science.abc6617  0.43
2020 Porubsky D, Ebert P, Audano PA, Vollger MR, Harvey WT, Marijon P, Ebler J, Munson KM, Sorensen M, Sulovari A, Haukness M, Ghareghani M, Lansdorp PM, Paten B, ... ... Korbel JO, et al. Fully phased human genome assembly without parental data using single-cell strand sequencing and long reads. Nature Biotechnology. PMID 33288906 DOI: 10.1038/s41587-020-0719-5  0.328
2020 Maggiolini FAM, Sanders AD, Shew CJ, Sulovari A, Mao Y, Puig M, Catacchio CR, Dellino M, Palmisano D, Mercuri L, Bitonto M, Porubský D, Cáceres M, Eichler EE, Ventura M, ... ... Korbel JO, et al. Single-cell strand sequencing of a macaque genome reveals multiple nested inversions and breakpoint reuse during primate evolution. Genome Research. PMID 33093070 DOI: 10.1101/gr.265322.120  0.387
2020 Bolognini D, Magi A, Benes V, Korbel JO, Rausch T. TRiCoLOR: tandem repeat profiling using whole-genome long-read sequencing data. Gigascience. 9. PMID 33034633 DOI: 10.1093/gigascience/giaa101  0.376
2020 Porubsky D, Sanders AD, Höps W, Hsieh P, Sulovari A, Li R, Mercuri L, Sorensen M, Murali SC, Gordon D, Cantsilieris S, Pollen AA, Ventura M, Antonacci F, Marschall T, ... Korbel JO, et al. Recurrent inversion toggling and great ape genome evolution. Nature Genetics. PMID 32541924 DOI: 10.1038/S41588-020-0646-X  0.468
2020 Schraivogel D, Gschwind AR, Milbank JH, Leonce DR, Jakob P, Mathur L, Korbel JO, Merten CA, Velten L, Steinmetz LM. Targeted Perturb-seq enables genome-scale genetic screens in single cells. Nature Methods. PMID 32483332 DOI: 10.1038/S41592-020-0837-5  0.456
2020 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, ... ... Korbel JO, et al. Germline Elongator mutations in Sonic Hedgehog medulloblastoma. Nature. 580: 396-401. PMID 32296180 DOI: 10.1038/S41586-020-2164-5  0.406
2020 Drainas AP, Lambuta RA, Ivanova I, Serçin Ö, Sarropoulos I, Smith ML, Efthymiopoulos T, Raeder B, Stütz AM, Waszak SM, Mardin BR, Korbel JO. Genome-wide Screens Implicate Loss of Cullin Ring Ligase 3 in Persistent Proliferation and Genome Instability in TP53-Deficient Cells. Cell Reports. 31: 107465. PMID 32268084 DOI: 10.1016/J.Celrep.2020.03.029  0.405
2020 Molnár-Gábor F, Korbel JO. Genomic data sharing in Europe is Stumbling-Could a code of conduct prevent its fall? Embo Molecular Medicine. e11421. PMID 32072760 DOI: 10.15252/Emmm.201911421  0.319
2020 Yakneen S, Waszak SM, Gertz M, Korbel JO. Publisher Correction: Butler enables rapid cloud-based analysis of thousands of human genomes. Nature Biotechnology. PMID 32051562 DOI: 10.1038/S41587-020-0448-9  0.418
2020 Salgueiro L, Buccitelli C, Rowald K, Somogyi K, Kandala S, Korbel JO, Sotillo R. Acquisition of chromosome instability is a mechanism to evade oncogene addiction. Embo Molecular Medicine. e10941. PMID 32030896 DOI: 10.15252/Emmm.201910941  0.396
2020 Calabrese C, Davidson NR, Demircioğlu D, Fonseca NA, He Y, Kahles A, Lehmann KV, Liu F, Shiraishi Y, Soulette CM, Urban L, Greger L, Li S, Liu D, ... ... Korbel JO, et al. Genomic basis for RNA alterations in cancer. Nature. 578: 129-136. PMID 32025019 DOI: 10.1038/S41586-020-1970-0  0.521
2020 Li Y, Roberts ND, Wala JA, Shapira O, Schumacher SE, Kumar K, Khurana E, Waszak S, Korbel JO, Haber JE, Imielinski M, Weischenfeldt J, Beroukhim R, Campbell PJ, et al. Patterns of somatic structural variation in human cancer genomes. Nature. 578: 112-121. PMID 32025012 DOI: 10.1038/S41586-019-1913-9  0.49
2020 Phillips M, Molnár-Gábor F, Korbel JO, Thorogood A, Joly Y, Chalmers D, Townend D, Knoppers BM. Genomics: data sharing needs an international code of conduct. Nature. 578: 31-33. PMID 32025008 DOI: 10.1038/D41586-020-00082-9  0.327
2020 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, ... ... Korbel JO, et al. Pan-cancer analysis of whole genomes identifies driver rearrangements promoted by LINE-1 retrotransposition. Nature Genetics. PMID 32024998 DOI: 10.1038/S41588-019-0562-0  0.561
2020 Yakneen S, Waszak SM, Gertz M, Korbel JO. Butler enables rapid cloud-based analysis of thousands of human genomes. Nature Biotechnology. PMID 32024987 DOI: 10.1038/S41587-019-0360-3  0.468
2020 Prada ML, Hernandez EE, Mijosek V, Schwartz U, Tamas R, Richter M, Behrendt A, Pohl S, Benz N, Muley T, Warth A, Herth F, Koch I, Karmouty-Quintana H, Mertens T, ... ... Korbel J, et al. Versatile workflow for storage, characterization and cell-type resolved transcriptional and epigenetic profiling of human lung samples. Erj Open Research. 6. DOI: 10.1183/23120541.Lsc-2020.44  0.309
2020 Lambo S, Grübner S, Rausch T, Waszak S, Schmidt C, Krausert S, Weichert L, Gorthi A, Romero C, Huang A, Schueler J, Korbel J, Bishop A, Pfister S, Korshunov A, et al. Abstract A39: Molecular characterization of ETMRs reveals role for R-loop mediated genomic instability and new treatment options Cancer Research. 80. DOI: 10.1158/1538-7445.Pedca19-A39  0.414
2019 Sanders AD, Meiers S, Ghareghani M, Porubsky D, Jeong H, van Vliet MACC, Rausch T, Richter-Pechańska P, Kunz JB, Jenni S, Bolognini D, Longo GMC, Raeder B, Kinanen V, Zimmermann J, ... ... Korbel JO, et al. Single-cell analysis of structural variations and complex rearrangements with tri-channel processing. Nature Biotechnology. PMID 31873213 DOI: 10.1038/S41587-019-0366-X  0.353
2019 Lambo S, Gröbner SN, Rausch T, Waszak SM, Schmidt C, Gorthi A, Romero JC, Mauermann M, Brabetz S, Krausert S, Buchhalter I, Koster J, Zwijnenburg DA, Sill M, Hübner JM, ... ... Korbel JO, et al. The molecular landscape of ETMR at diagnosis and relapse. Nature. PMID 31802000 DOI: 10.1038/S41586-019-1815-X  0.407
2019 Bolognini D, Sanders A, Korbel JO, Magi A, Benes V, Rausch T. VISOR: a versatile haplotype-aware structural variant simulator for short and long read sequencing. Bioinformatics (Oxford, England). PMID 31589307 DOI: 10.1093/Bioinformatics/Btz719  0.334
2019 Karoutas A, Szymanski W, Rausch T, Guhathakurta S, Rog-Zielinska EA, Peyronnet R, Seyfferth J, Chen HR, de Leeuw R, Herquel B, Kimura H, Mittler G, Kohl P, Medalia O, Korbel JO, et al. The NSL complex maintains nuclear architecture stability via lamin A/C acetylation. Nature Cell Biology. 21: 1248-1260. PMID 31576060 DOI: 10.1038/S41556-019-0397-Z  0.321
2019 Saunders G, Baudis M, Becker R, Beltran S, Béroud C, Birney E, Brooksbank C, Brunak S, Van den Bulcke M, Drysdale R, Capella-Gutierrez S, Flicek P, Florindi F, Goodhand P, Gut I, ... ... Korbel JO, et al. Author Correction: Leveraging European infrastructures to access 1 million human genomes by 2022. Nature Reviews. Genetics. PMID 31520075 DOI: 10.1038/S41576-019-0178-3  0.403
2019 Saunders G, Baudis M, Becker R, Beltran S, Béroud C, Birney E, Brooksbank C, Brunak S, Van den Bulcke M, Drysdale R, Capella-Gutierrez S, Flicek P, Florindi F, Goodhand P, Gut I, ... ... Korbel JO, et al. Leveraging European infrastructures to access 1 million human genomes by 2022. Nature Reviews. Genetics. PMID 31455890 DOI: 10.1038/S41576-019-0156-9  0.448
2019 Ghavi-Helm Y, Jankowski A, Meiers S, Viales RR, Korbel JO, Furlong EEM. Highly rearranged chromosomes reveal uncoupling between genome topology and gene expression. Nature Genetics. PMID 31308546 DOI: 10.1038/S41588-019-0462-3  0.463
2019 Chaisson MJP, Sanders AD, Zhao X, Malhotra A, Porubsky D, Rausch T, Gardner EJ, Rodriguez OL, Guo L, Collins RL, Fan X, Wen J, Handsaker RE, Fairley S, Kronenberg ZN, ... ... Korbel JO, et al. Multi-platform discovery of haplotype-resolved structural variation in human genomes. Nature Communications. 10: 1784. PMID 30992455 DOI: 10.1038/S41467-018-08148-Z  0.741
2019 López C, Kleinheinz K, Aukema SM, Rohde M, Bernhart SH, Hübschmann D, Wagener R, Toprak UH, Raimondi F, Kreuz M, Waszak SM, Huang Z, Sieverling L, Paramasivam N, Seufert J, ... ... Korbel JO, et al. Genomic and transcriptomic changes complement each other in the pathogenesis of sporadic Burkitt lymphoma. Nature Communications. 10: 1459. PMID 30926794 DOI: 10.1038/S41467-019-08578-3  0.451
2019 Okonechnikov K, Erkek S, Korbel JO, Pfister SM, Chavez L. InTAD: chromosome conformation guided analysis of enhancer target genes. Bmc Bioinformatics. 20: 60. PMID 30704404 DOI: 10.1186/S12859-019-2655-2  0.415
2019 Li W, Baumbach J, Mohammadnejad A, Brasch-Andersen C, Vandin F, Korbel JO, Tan Q. Enriched power of disease-concordant twin-case-only design in detecting interactions in genome-wide association studies. European Journal of Human Genetics : Ejhg. PMID 30659261 DOI: 10.1038/S41431-018-0320-2  0.311
2018 Erkek S, Johann PD, Finetti MA, Drosos Y, Chou HC, Zapatka M, Sturm D, Jones DTW, Korshunov A, Rhyzova M, Wolf S, Mallm JP, Beck K, Witt O, Kulozik AE, ... ... Korbel JO, et al. Comprehensive Analysis of Chromatin States in Atypical Teratoid/Rhabdoid Tumor Identifies Diverging Roles for SWI/SNF and Polycomb in Gene Regulation. Cancer Cell. PMID 30595504 DOI: 10.1016/J.Ccell.2018.11.014  0.363
2018 Gerhauser C, Favero F, Risch T, Simon R, Feuerbach L, Assenov Y, Heckmann D, Sidiropoulos N, Waszak SM, Hübschmann D, Urbanucci A, Girma EG, Kuryshev V, Klimczak LJ, Saini N, ... ... Korbel JO, et al. Molecular Evolution of Early-Onset Prostate Cancer Identifies Molecular Risk Markers and Clinical Trajectories. Cancer Cell. 34: 996-1011.e8. PMID 30537516 DOI: 10.1016/J.Ccell.2018.10.016  0.346
2018 Rausch T, Fritz MH, Korbel JO, Benes V. Alfred: Interactive multi-sample BAM alignment statistics, feature counting and feature annotation for long- and short-read sequencing. Bioinformatics (Oxford, England). PMID 30520945 DOI: 10.1093/Bioinformatics/Bty1007  0.38
2018 Richter-Pechańska P, Kunz JB, Bornhauser B, von Knebel Doeberitz C, Rausch T, Erarslan-Uysal B, Assenov Y, Frismantas V, Marovca B, Waszak SM, Zimmermann M, Seemann J, Happich M, Stanulla M, Schrappe M, ... ... Korbel JO, et al. PDX models recapitulate the genetic and epigenetic landscape of pediatric T-cell leukemia. Embo Molecular Medicine. PMID 30389682 DOI: 10.15252/Emmm.201809443  0.393
2018 Ghareghani M, Porubsk D, Sanders AD, Meiers S, Eichler EE, Korbel JO, Marschall T. Strand-seq enables reliable separation of long reads by chromosome via expectation maximization. Bioinformatics (Oxford, England). 34: i115-i123. PMID 29949971 DOI: 10.1093/bioinformatics/bty290  0.353
2018 Gröbner SN, Worst BC, Weischenfeldt J, Buchhalter I, Kleinheinz K, Rudneva VA, Johann PD, Balasubramanian GP, Segura-Wang M, Brabetz S, Bender S, Hutter B, Sturm D, Pfaff E, Hübschmann D, ... ... Korbel JO, ... ... Korbel J, ... ... Korbel J, et al. Author Correction: The landscape of genomic alterations across childhood cancers. Nature. PMID 29875405 DOI: 10.1038/S41586-018-0167-2  0.301
2018 Gröbner SN, Worst BC, Weischenfeldt J, Buchhalter I, Kleinheinz K, Rudneva VA, Johann PD, Balasubramanian GP, Segura-Wang M, Brabetz S, Bender S, Hutter B, Sturm D, Pfaff E, Hübschmann D, ... ... Korbel JO, et al. The landscape of genomic alterations across childhood cancers. Nature. PMID 29489754 DOI: 10.1038/Nature25480  0.358
2018 Marschall T, Marz M, Abeel T, Dijkstra L, Dutilh BE, Ghaffaari A, Kersey P, Kloosterman WP, Makinen V, Novak AM, Paten B, Porubsky D, Rivals E, Alkan C, Baaijens JA, ... ... Korbel JO, et al. Computational pan-genomics: status, promises and challenges. Briefings in Bioinformatics. 19: 118-135. PMID 27769991 DOI: 10.1093/Bib/Bbw089  0.716
2017 Kluth M, Jung S, Habib O, Eshagzaiy M, Heinl A, Amschler N, Masser S, Mader M, Runte F, Barow P, Frogh S, Omari J, Möller-Koop C, Hube-Magg C, Weischenfeldt J, ... Korbel J, et al. Deletion lengthening at chromosomes 6q and 16q targets multiple tumor suppressor genes and is associated with an increasingly poor prognosis in prostate cancer. Oncotarget. 8: 108923-108935. PMID 29312579 DOI: 10.18632/Oncotarget.22408  0.307
2017 Haas J, Mester S, Lai A, Frese KS, Sedaghat-Hamedani F, Kayvanpour E, Rausch T, Nietsch R, Boeckel JN, Carstensen A, Völkers M, Dietrich C, Pils D, Amr A, Holzer DB, ... ... Korbel JO, et al. Genomic structural variations lead to dysregulation of important coding and non-coding RNA species in dilated cardiomyopathy. Embo Molecular Medicine. PMID 29138229 DOI: 10.15252/Emmm.201707838  0.466
2017 Porubsky D, Garg S, Sanders AD, Korbel JO, Guryev V, Lansdorp PM, Marschall T. Dense and accurate whole-chromosome haplotyping of individual genomes. Nature Communications. 8: 1293. PMID 29101320 DOI: 10.1038/S41467-017-01389-4  0.523
2017 Hopkins JF, Sabelnykova VY, Weischenfeldt J, Simon R, Aguiar JA, Alkallas R, Heisler LE, Zhang J, Watson JD, Chua MLK, Fraser M, Favero F, Lawerenz C, Plass C, Sauter G, ... ... Korbel J, et al. Mitochondrial mutations drive prostate cancer aggression. Nature Communications. 8: 656. PMID 28939825 DOI: 10.1038/S41467-017-00377-Y  0.313
2017 Segura-Wang M, Onishi-Seebacher M, Stütz AM, Mardin BR, Korbel JO. Systematic Identification of Determinants for Single Strand Annealing Mediated Deletion Formation in Saccharomyces cerevisiae. G3 (Bethesda, Md.). PMID 28818866 DOI: 10.1534/G3.117.300165  0.487
2017 Northcott PA, Buchhalter I, Morrissy AS, Hovestadt V, Weischenfeldt J, Ehrenberger T, Gröbner S, Segura-Wang M, Zichner T, Rudneva VA, Warnatz HJ, Sidiropoulos N, Phillips AH, Schumacher S, Kleinheinz K, ... ... Korbel JO, et al. The whole-genome landscape of medulloblastoma subtypes. Nature. 547: 311-317. PMID 28726821 DOI: 10.1038/Nature22973  0.429
2017 Weischenfeldt J, Korbel JO. Genomes of early onset prostate cancer. Current Opinion in Urology. PMID 28661899 DOI: 10.1097/Mou.0000000000000422  0.313
2017 Molnár-Gábor F, Lueck R, Yakneen S, Korbel JO. Computing patient data in the cloud: practical and legal considerations for genetics and genomics research in Europe and internationally. Genome Medicine. 9: 58. PMID 28633659 DOI: 10.1186/S13073-017-0449-6  0.41
2017 Buccitelli C, Salgueiro L, Rowald K, Sotillo R, Mardin BR, Korbel JO. Pan-cancer analysis distinguishes transcriptional changes of aneuploidy from proliferation. Genome Research. PMID 28320919 DOI: 10.1101/Gr.212225.116  0.443
2017 Ratnaparkhe M, Hlevnjak M, Kolb T, Jauch A, Maass KK, Devens F, Rode A, Hovestadt V, Korshunov A, Pastorczak A, Mlynarski W, Sungalee S, Korbel J, Hoell J, Fischer U, et al. Genomic profiling of acute lymphoblastic leukemia in ataxia telangiectasia patients reveals tight link between ATM mutations and chromothripsis. Leukemia. PMID 28196983 DOI: 10.1038/Leu.2017.55  0.499
2017 Richter-Pechańska P, Kunz JB, Hof J, Zimmermann M, Rausch T, Bandapalli OR, Orlova E, Scapinello G, Sagi JC, Stanulla M, Schrappe M, Cario G, Kirschner-Schwabe R, Eckert C, Benes V, ... Korbel JO, et al. Identification of a genetically defined ultra-high-risk group in relapsed pediatric T-lymphoblastic leukemia. Blood Cancer Journal. 7: e523. PMID 28157215 DOI: 10.1038/Bcj.2017.3  0.328
2017 Amin S, Awadalla P, Biankin A, Boutros P, Brazma A, Brooks AN, Calabrese C, Chang D, Chateigner A, Chen K, Chong Z, Craft B, Creighton C, Demircioğlu D, Fonseca N, ... ... Korbel J, et al. Abstract SY10-02: Pan-cancer study of recurrent and heterogeneous RNA aberrations and association with whole-genome variants Cancer Research. 77. DOI: 10.1158/1538-7445.Am2017-Sy10-02  0.4
2017 Ratnaparkhe M, Hlevnjak M, Kolb T, Jauch A, Maass K, Devens F, Rode A, Hovestadt V, Korshunov A, Pastorczak A, Mlynarski W, Sungalee S, Korbel J, Hoell J, Fischer U, et al. Abstract 509: Genomic profiling of acute lymphoblastic leukemia in ataxia telangiectasia patients reveals tight link betweenATMmutations and chromothripsis Cancer Research. 77: 509-509. DOI: 10.1158/1538-7445.Am2017-509  0.413
2017 Dubash TD, Siegl C, Dieter SM, Weischenfeldt J, Drainas AP, Schwarzmueller L, Oles M, Mardin B, Slabicki M, Wolfgang H, Schneider M, Korbel J, Glimm H, Ball CR. Abstract 2893: IGF2 is essential for tumor initiating cell activity in human colorectal cancer Cancer Research. 77: 2893-2893. DOI: 10.1158/1538-7445.Am2017-2893  0.317
2016 Weischenfeldt J, Dubash T, Drainas AP, Mardin BR, Chen Y, Stütz AM, Waszak SM, Bosco G, Halvorsen AR, Raeder B, Efthymiopoulos T, Erkek S, Siegl C, Brenner H, Brustugun OT, ... ... Korbel JO, et al. Pan-cancer analysis of somatic copy-number alterations implicates IRS4 and IGF2 in enhancer hijacking. Nature Genetics. PMID 27869826 DOI: 10.1038/Ng.3722  0.365
2016 Bender S, Gronych J, Warnatz H, Hutter B, Gröbner S, Ryzhova M, Pfaff E, Hovestadt V, Weinberg F, Halbach S, Kool M, Northcott PA, Sturm D, Bjerke L, Zichner T, ... ... Korbel JO, et al. Recurrent MET fusion genes represent a drug target in pediatric glioblastoma Nature Medicine. 22: 1314-1320. PMID 27748748 DOI: 10.1038/Nm.4204  0.409
2016 Habermann N, Mardin BR, Yakneen S, Korbel JO. Using large-scale genome variation cohorts to decipher the molecular mechanism of cancer. Comptes Rendus Biologies. PMID 27342254 DOI: 10.1016/J.Crvi.2016.05.008  0.488
2016 Tica J, Lee E, Untergasser A, Meiers S, Garfield DA, Gokcumen O, Furlong EE, Park PJ, Stütz AM, Korbel JO. Next-generation sequencing-based detection of germline L1-mediated transductions. Bmc Genomics. 17: 342. PMID 27161561 DOI: 10.1186/S12864-016-2670-X  0.45
2016 Coccé MC, Mardin BR, Bens S, Stütz AM, Lubieniecki F, Vater I, Korbel JO, Siebert R, Alonso CN, Gallego MS. Identification of ZCCHC8 as Fusion Partner of ROS1 in a case of Congenital Glioblastoma Multiforme with a t(6;12)(q21;q24.3). Genes, Chromosomes & Cancer. PMID 27121553 DOI: 10.1002/Gcc.22369  0.366
2016 Johann PD, Erkek S, Zapatka M, Kerl K, Buchhalter I, Hovestadt V, Jones DT, Sturm D, Hermann C, Segura Wang M, Korshunov A, Rhyzova M, Gröbner S, Brabetz S, Chavez L, ... ... Korbel JO, et al. Atypical Teratoid/Rhabdoid Tumors Are Comprised of Three Epigenetic Subgroups with Distinct Enhancer Landscapes. Cancer Cell. PMID 26923874 DOI: 10.1016/J.Ccell.2016.02.001  0.382
2016 Lin CY, Erkek S, Tong Y, Yin L, Federation AJ, Zapatka M, Haldipur P, Kawauchi D, Risch T, Warnatz HJ, Worst BC, Ju B, Orr BA, Zeid R, Polaski DR, ... ... Korbel JO, et al. Active medulloblastoma enhancers reveal subgroup-specific cellular origins. Nature. PMID 26814967 DOI: 10.1038/Nature16546  0.408
2016 Chavez L, Pajtler KW, Erkek S, Witt H, Gröbner S, Huang Z, Zapatka M, Hovestadt V, Jones DTW, Korbel JO, Lichter P, Pfister SM, Kool M. EPN-34EPIGENOMIC ANALYSIS OF EPENDYMAL TUMORS IDENTIFIES SUBGROUP SPECIFIC ENHANCERS CONTROLLING DISTINCT REGULATORY CIRCUITRIES Neuro-Oncology. 18: iii38.1-iii38. DOI: 10.1093/Neuonc/Now070.33  0.407
2015 Cannavò E, Khoueiry P, Garfield DA, Geeleher P, Zichner T, Gustafson EH, Ciglar L, Korbel JO, Furlong EE. Shadow Enhancers Are Pervasive Features of Developmental Regulatory Networks. Current Biology : Cb. PMID 26687625 DOI: 10.1016/J.Cub.2015.11.034  0.367
2015 Kovac M, Blattmann C, Ribi S, Smida J, Mueller NS, Engert F, Castro-Giner F, Weischenfeldt J, Kovacova M, Krieg A, Andreou D, Tunn PU, Dürr HR, Rechl H, Schaser KD, ... ... Korbel JO, et al. Exome sequencing of osteosarcoma reveals mutation signatures reminiscent of BRCA deficiency. Nature Communications. 6: 8940. PMID 26632267 DOI: 10.1038/Ncomms9940  0.434
2015 Gatz SA, Salles D, Jacobsen EM, Dörk T, Rausch T, Aydin S, Surowy H, Volcic M, Vogel W, Debatin KM, Stütz AM, Schwarz K, Pannicke U, Hess T, Korbel JO, et al. MCM3AP and POMP Mutations Cause a DNA-Repair and DNA-Damage-Signaling Defect in an Immunodeficient Child. Human Mutation. PMID 26615982 DOI: 10.1002/Humu.22939  0.335
2015 Sudmant PH, Rausch T, Gardner EJ, Handsaker RE, Abyzov A, Huddleston J, Zhang Y, Ye K, Jun G, Hsi-Yang Fritz M, Konkel MK, Malhotra A, Stütz AM, Shi X, Paolo Casale F, ... ... Korbel JO, et al. An integrated map of structural variation in 2,504 human genomes. Nature. 526: 75-81. PMID 26432246 DOI: 10.1038/Nature15394  0.812
2015 Auton A, Brooks LD, Durbin RM, Garrison EP, Kang HM, Korbel JO, Marchini JL, McCarthy S, McVean GA, Abecasis GR. A global reference for human genetic variation. Nature. 526: 68-74. PMID 26432245 DOI: 10.1038/Nature15393  0.477
2015 Mardin BR, Drainas AP, Waszak SM, Weischenfeldt J, Isokane M, Stütz AM, Raeder B, Efthymiopoulos T, Buccitelli C, Segura-Wang M, Northcott P, Pfister SM, Lichter P, Ellenberg J, Korbel JO. A cell-based model system links chromothripsis with hyperploidy. Molecular Systems Biology. 11: 828. PMID 26415501 DOI: 10.15252/Msb.20156505  0.459
2015 Abyzov A, Li S, Kim DR, Mohiyuddin M, Stütz AM, Parrish NF, Mu XJ, Clark W, Chen K, Hurles M, Korbel JO, Lam HY, Lee C, Gerstein MB. Erratum: Analysis of deletion breakpoints from 1,092 humans reveals details of mutation mechanisms. Nature Communications. 6: 8389. PMID 26346554 DOI: 10.1038/Ncomms9389  0.742
2015 Fischer U, Forster M, Rinaldi A, Risch T, Sungalee S, Warnatz HJ, Bornhauser B, Gombert M, Kratsch C, Stütz AM, Sultan M, Tchinda J, Worth CL, Amstislavskiy V, Badarinarayan N, ... ... Korbel JO, et al. Genomics and drug profiling of fatal TCF3-HLF-positive acute lymphoblastic leukemia identifies recurrent mutation patterns and therapeutic options. Nature Genetics. PMID 26214592 DOI: 10.1038/Ng.3362  0.35
2015 George J, Lim JS, Jang SJ, Cun Y, Ozretić L, Kong G, Leenders F, Lu X, Fernández-Cuesta L, Bosco G, Müller C, Dahmen I, Jahchan NS, Park KS, Yang D, ... ... Korbel JO, et al. Comprehensive genomic profiles of small cell lung cancer. Nature. 524: 47-53. PMID 26168399 DOI: 10.1038/Nature14664  0.481
2015 Pendleton M, Sebra R, Pang AW, Ummat A, Franzen O, Rausch T, Stütz AM, Stedman W, Anantharaman T, Hastie A, Dai H, Fritz MH, Cao H, Cohain A, Deikus G, ... ... Korbel JO, et al. Assembly and diploid architecture of an individual human genome via single-molecule technologies. Nature Methods. PMID 26121404 DOI: 10.1038/Nmeth.3454  0.478
2015 Abyzov A, Li S, Kim DR, Mohiyuddin M, Stütz AM, Parrish NF, Mu XJ, Clark W, Chen K, Hurles M, Korbel JO, Lam HY, Lee C, Gerstein MB. Analysis of deletion breakpoints from 1,092 humans reveals details of mutation mechanisms. Nature Communications. 6: 7256. PMID 26028266 DOI: 10.1038/ncomms8256  0.761
2015 Kluth M, Galal R, Krohn A, Weischenfeldt J, Tsourlakis C, Paustian L, Ahrary R, Ahmed M, Scherzai S, Meyer A, Sirma H, Korbel J, Sauter G, Schlomm T, Simon R, et al. Prevalence of chromosomal rearrangements involving non-ETS genes in prostate cancer. International Journal of Oncology. 46: 1637-42. PMID 25625310 DOI: 10.3892/Ijo.2015.2855  0.355
2015 Gu L, Frommel SC, Oakes CC, Simon R, Grupp K, Gerig CY, Bär D, Robinson MD, Baer C, Weiss M, Gu Z, Schapira M, Kuner R, Sültmann H, Provenzano M, ... ... Korbel J, et al. BAZ2A (TIP5) is involved in epigenetic alterations in prostate cancer and its overexpression predicts disease recurrence. Nature Genetics. 47: 22-30. PMID 25485837 DOI: 10.1038/Ng.3165  0.3
2015 Pechanska P, Kunz J, Rausch T, Bandapalli OR, Orlova E, Sagi J, Stanulla M, Schrappe M, Kirschner-Schwabe R, Hof J, Eckert C, Köhler R, Muckenthaler MU, Korbel Jo, Kulozik AE. Gene Panel Sequencing of Primary and Relapsed Pediatric T-ALL Shows That Relapse-Specific Mutations Are Diverse and Mostly Non-Recurrent Blood. 126: 1428-1428. DOI: 10.1182/Blood.V126.23.1428.1428  0.384
2015 Rudneva V, Anders S, Huber W, Korbel J. Abstract LB-305: A computational approach to identify recurrent somatic driver events in noncoding regions in human cancers Cancer Research. 75. DOI: 10.1158/1538-7445.Am2015-Lb-305  0.428
2015 Lin CY, Erkek S, Tong Y, Yang L, Federation AJ, Zapatka M, Haldipur P, Kawauchi D, Risch T, Warnatz H, Worst B, Ju B, Orr BA, Zeid R, Polaski DR, ... ... Korbel JO, et al. Abstract LB-B23: Medulloblastoma regulatory circuitries reveal subgroup-specific cellular origins Molecular Cancer Therapeutics. 14. DOI: 10.1158/1535-7163.Targ-15-Lb-B23  0.379
2015 Erkek S, Zapatka M, Chavez L, Waszak SM, Hovestadt V, Johann PD, Sieber L, Jones DTW, Kool M, Lichter P, Korbel JO, Northcott PA, Pfister SM. EPIG-04THE CHROMATIN LANDSCAPE OF MEDULLOBLASTOMA Neuro-Oncology. 17: v86.4-v87. DOI: 10.1093/Neuonc/Nov214.04  0.382
2014 Moncunill V, Gonzalez S, Beà S, Andrieux LO, Salaverria I, Royo C, Martinez L, Puiggròs M, Segura-Wang M, Stütz AM, Navarro A, Royo R, Gelpí JL, Gut IG, López-Otín C, ... ... Korbel JO, et al. Comprehensive characterization of complex structural variations in cancer by directly comparing genome sequence reads. Nature Biotechnology. 32: 1106-12. PMID 25344728 DOI: 10.1038/Nbt.3027  0.496
2014 Brocks D, Assenov Y, Minner S, Bogatyrova O, Simon R, Koop C, Oakes C, Zucknick M, Lipka DB, Weischenfeldt J, Feuerbach L, Cowper-Sal Lari R, Lupien M, Brors B, Korbel J, et al. Intratumor DNA methylation heterogeneity reflects clonal evolution in aggressive prostate cancer. Cell Reports. 8: 798-806. PMID 25066126 DOI: 10.1016/J.Celrep.2014.06.053  0.331
2014 Northcott PA, Lee C, Zichner T, Stütz AM, Erkek S, Kawauchi D, Shih DJ, Hovestadt V, Zapatka M, Sturm D, Jones DT, Kool M, Remke M, Cavalli FM, Zuyderduyn S, ... ... Korbel JO, et al. Enhancer hijacking activates GFI1 family oncogenes in medulloblastoma. Nature. 511: 428-34. PMID 25043047 DOI: 10.1038/Nature13379  0.403
2014 Steurer S, Mayer PS, Adam M, Krohn A, Koop C, Ospina-Klinck D, Tehrani AA, Simon R, Tennstedt P, Graefen M, Wittmer C, Brors B, Plass C, Korbel J, Weischenfeldt J, et al. TMPRSS2-ERG fusions are strongly linked to young patient age in low-grade prostate cancer. European Urology. 66: 978-81. PMID 25015038 DOI: 10.1016/J.Eururo.2014.06.027  0.313
2014 Huang W, Massouras A, Inoue Y, Peiffer J, Ràmia M, Tarone AM, Turlapati L, Zichner T, Zhu D, Lyman RF, Magwire MM, Blankenburg K, Carbone MA, Chang K, Ellis LL, ... ... Korbel JO, et al. Natural variation in genome architecture among 205 Drosophila melanogaster Genetic Reference Panel lines. Genome Research. 24: 1193-208. PMID 24714809 DOI: 10.1101/Gr.171546.113  0.494
2014 Kool M, Jones DT, Jäger N, Northcott PA, Pugh TJ, Hovestadt V, Piro RM, Esparza LA, Markant SL, Remke M, Milde T, Bourdeaut F, Ryzhova M, Sturm D, Pfaff E, ... ... Korbel JO, et al. Genome sequencing of SHH medulloblastoma predicts genotype-related response to smoothened inhibition. Cancer Cell. 25: 393-405. PMID 24651015 DOI: 10.1016/J.Ccr.2014.02.004  0.345
2014 Mack SC, Witt H, Piro RM, Gu L, Zuyderduyn S, Stütz AM, Wang X, Gallo M, Garzia L, Zayne K, Zhang X, Ramaswamy V, Jäger N, Jones DT, Sill M, ... ... Korbel JO, et al. Epigenomic alterations define lethal CIMP-positive ependymomas of infancy. Nature. 506: 445-50. PMID 24553142 DOI: 10.1038/Nature13108  0.382
2014 Bens S, Zichner T, Stütz AM, Caliebe A, Wagener R, Hoff K, Korbel JO, von Bismarck P, Siebert R. SPAG7 is a candidate gene for the periodic fever, aphthous stomatitis, pharyngitis and adenopathy (PFAPA) syndrome. Genes and Immunity. 15: 190-4. PMID 24452265 DOI: 10.1038/Gene.2013.73  0.38
2014 Kunz J, Bandapalli OR, Rausch T, Stuetz A, Pechanska P, Assenov Y, Eilers J, Orlova E, Sagi J, Stanulla M, Schrappe M, Handgretinger R, Kirschner-Schwabe R, Hof J, Eckert C, ... ... Korbel J, et al. Targeted Deep Sequencing of Genetic Alterations Identified By Whole Exome Sequencing Reveals Clonal Evolution in Pediatric T-Lymphoblastic Leukemia Blood. 124: 491-491. DOI: 10.1182/Blood.V124.21.491.491  0.343
2014 Lee C, Northcott PA, Zichner T, Lichter P, Korbel JO, Pfister SM, Wechsler-Reya RJ. Abstract LB-203: Structural variants shuffle chromatin to activate GFI1 family oncogenes in medulloblastoma Cancer Research. 74. DOI: 10.1158/1538-7445.Am2014-Lb-203  0.399
2014 Lee C, Northcott PA, Zichner T, Lichter P, Korbel JO, Pfister SM, Wechsler-Reya RJ. PM-09 * REGULATION OF MEDULLOBLASTOMA FORMATION BY Gfi1 AND Gfi1B Neuro-Oncology. 16: v170-v171. DOI: 10.1093/Neuonc/Nou268.9  0.397
2014 Northcott P, Lee C, Zichner T, Lichter P, Korbel J, Wechsler-Reya R, Pfister S. Ge-23Enhancer Hijacking Activates Gfi1 Family Oncogenes In Medulloblastoma. Neuro-Oncology. 16. DOI: 10.1093/Neuonc/Nou256.22  0.458
2013 Korbel JO, Lee C. Genome assembly and haplotyping with Hi-C. Nature Biotechnology. 31: 1099-101. PMID 24316648 DOI: 10.1038/Nbt.2764  0.404
2013 Gokcumen O, Tischler V, Tica J, Zhu Q, Iskow RC, Lee E, Fritz MH, Langdon A, Stütz AM, Pavlidis P, Benes V, Mills RE, Park PJ, Lee C, Korbel JO. Primate genome architecture influences structural variation mechanisms and functional consequences. Proceedings of the National Academy of Sciences of the United States of America. 110: 15764-9. PMID 24014587 DOI: 10.1073/Pnas.1305904110  0.508
2013 Jones DT, Hutter B, Jäger N, Korshunov A, Kool M, Warnatz HJ, Zichner T, Lambert SR, Ryzhova M, Quang DA, Fontebasso AM, Stütz AM, Hutter S, Zuckermann M, Sturm D, ... ... Korbel JO, et al. Recurrent somatic alterations of FGFR1 and NTRK2 in pilocytic astrocytoma. Nature Genetics. 45: 927-32. PMID 23817572 DOI: 10.1038/Ng.2682  0.394
2013 Grosch M, Grüner B, Spranger S, Stütz AM, Rausch T, Korbel JO, Seelow D, Nürnberg P, Sticht H, Lausch E, Zabel B, Winterpacht A, Tagariello A. Identification of a Ninein (NIN) mutation in a family with spondyloepimetaphyseal dysplasia with joint laxity (leptodactylic type)-like phenotype. Matrix Biology : Journal of the International Society For Matrix Biology. 32: 387-92. PMID 23665482 DOI: 10.1016/J.Matbio.2013.05.001  0.35
2013 Greil J, Rausch T, Giese T, Bandapalli OR, Daniel V, Bekeredjian-Ding I, Stütz AM, Drees C, Roth S, Ruland J, Korbel JO, Kulozik AE. Whole-exome sequencing links caspase recruitment domain 11 (CARD11) inactivation to severe combined immunodeficiency. The Journal of Allergy and Clinical Immunology. 131: 1376-83.e3. PMID 23561803 DOI: 10.1016/J.Jaci.2013.02.012  0.344
2013 Landry JJ, Pyl PT, Rausch T, Zichner T, Tekkedil MM, Stütz AM, Jauch A, Aiyar RS, Pau G, Delhomme N, Gagneur J, Korbel JO, Huber W, Steinmetz LM. The genomic and transcriptomic landscape of a HeLa cell line. G3 (Bethesda, Md.). 3: 1213-24. PMID 23550136 DOI: 10.1534/G3.113.005777  0.509
2013 Korbel JO, Campbell PJ. Criteria for inference of chromothripsis in cancer genomes. Cell. 152: 1226-36. PMID 23498933 DOI: 10.1016/J.Cell.2013.02.023  0.413
2013 Weischenfeldt J, Simon R, Feuerbach L, Schlangen K, Weichenhan D, Minner S, Wuttig D, Warnatz HJ, Stehr H, Rausch T, Jäger N, Gu L, Bogatyrova O, Stütz AM, Claus R, ... ... Korbel JO, et al. Integrative genomic analyses reveal an androgen-driven somatic alteration landscape in early-onset prostate cancer. Cancer Cell. 23: 159-70. PMID 23410972 DOI: 10.1016/J.Ccr.2013.01.002  0.396
2013 Kluth M, Hesse J, Heinl A, Krohn A, Steurer S, Sirma H, Simon R, Mayer PS, Schumacher U, Grupp K, Izbicki JR, Pantel K, Dikomey E, Korbel JO, Plass C, et al. Genomic deletion of MAP3K7 at 6q12-22 is associated with early PSA recurrence in prostate cancer and absence of TMPRSS2:ERG fusions. Modern Pathology : An Official Journal of the United States and Canadian Academy of Pathology, Inc. 26: 975-83. PMID 23370768 DOI: 10.1038/Modpathol.2012.236  0.335
2013 Weischenfeldt J, Symmons O, Spitz F, Korbel JO. Phenotypic impact of genomic structural variation: insights from and for human disease. Nature Reviews. Genetics. 14: 125-38. PMID 23329113 DOI: 10.1038/Nrg3373  0.438
2013 Zichner T, Garfield DA, Rausch T, Stütz AM, Cannavó E, Braun M, Furlong EE, Korbel JO. Impact of genomic structural variation in Drosophila melanogaster based on population-scale sequencing. Genome Research. 23: 568-79. PMID 23222910 DOI: 10.1101/Gr.142646.112  0.47
2013 Kunz J, Rausch T, Bandapalli OR, Stuetz AM, Greil J, Hausser I, Korbel J, Kulozik AE. Whole Exome Sequencing Identifies Novel Lyst-Missense Mutations In Incomplete Childhood Chediak-Higashi-Syndrome Presenting As Hemphagocytic Lymphohistiocytosis (HLH) Blood. 122: 3479-3479. DOI: 10.1182/Blood.V122.21.3479.3479  0.412
2013 Kunz J, Rausch T, Bandapalli OR, Muckenthaler MU, Stuetz AM, Stanulla M, Schrappe M, Handgretinger R, Avigad S, Korbel J, Kulozik AE. Whole Exome Sequencing In Relapsed Pediatric T-ALL: Progression Into Relapse Is Characterized By An Increased Number Of Somatic Mutations and a Conservation Of Mutations In Leukemogenic Driver Genes Blood. 122: 228-228. DOI: 10.1182/Blood.V122.21.228.228  0.45
2013 Jones DT, Hutter B, Jäger N, Korshunov A, Kool M, Lambert SR, Quang DAK, Fontebasso AM, Ryzhova M, Warnatz H, Zichner T, Korbel JO, Wolf S, Yaspo M, Ligon KL, et al. Abstract 4594: Recurrent FGFR1 hotspot mutations represent a novel therapeutic target in childhood astrocytoma. Cancer Research. 73: 4594-4594. DOI: 10.1158/1538-7445.Am2013-4594  0.35
2012 Richter J, Schlesner M, Hoffmann S, Kreuz M, Leich E, Burkhardt B, Rosolowski M, Ammerpohl O, Wagener R, Bernhart SH, Lenze D, Szczepanowski M, Paulsen M, Lipinski S, Russell RB, ... ... Korbel JO, et al. Recurrent mutation of the ID3 gene in Burkitt lymphoma identified by integrated genome, exome and transcriptome sequencing. Nature Genetics. 44: 1316-20. PMID 23143595 DOI: 10.1038/Ng.2469  0.425
2012 Edelmann J, Holzmann K, Miller F, Winkler D, Bühler A, Zenz T, Bullinger L, Kühn MW, Gerhardinger A, Bloehdorn J, Radtke I, Su X, Ma J, Pounds S, Hallek M, ... ... Korbel J, et al. High-resolution genomic profiling of chronic lymphocytic leukemia reveals new recurrent genomic alterations. Blood. 120: 4783-94. PMID 23047824 DOI: 10.1182/Blood-2012-04-423517  0.563
2012 Rausch T, Zichner T, Schlattl A, Stütz AM, Benes V, Korbel JO. DELLY: structural variant discovery by integrated paired-end and split-read analysis. Bioinformatics (Oxford, England). 28: i333-i339. PMID 22962449 DOI: 10.1093/Bioinformatics/Bts378  0.534
2012 Jones DT, Jäger N, Kool M, Zichner T, Hutter B, Sultan M, Cho YJ, Pugh TJ, Hovestadt V, Stütz AM, Rausch T, Warnatz HJ, Ryzhova M, Bender S, Sturm D, ... ... Korbel JO, et al. Dissecting the genomic complexity underlying medulloblastoma. Nature. 488: 100-5. PMID 22832583 DOI: 10.1038/Nature11284  0.432
2012 Northcott PA, Shih DJ, Peacock J, Garzia L, Morrissy AS, Zichner T, Stütz AM, Korshunov A, Reimand J, Schumacher SE, Beroukhim R, Ellison DW, Marshall CR, Lionel AC, Mack S, ... ... Korbel JO, et al. Subgroup-specific structural variation across 1,000 medulloblastoma genomes. Nature. 488: 49-56. PMID 22832581 DOI: 10.1038/Nature11327  0.337
2012 Haemmerling S, Behnisch W, Doerks T, Korbel JO, Bork P, Moog U, Hentze S, Grasshoff U, Bonin M, Rieß O, Janssen JW, Jauch A, Bartram CR, Reinhardt D, Koch KA, et al. A 15q24 microdeletion in transient myeloproliferative disease (TMD) and acute megakaryoblastic leukaemia (AMKL) implicates PML and SUMO3 in the leukaemogenesis of TMD/AMKL. British Journal of Haematology. 157: 180-7. PMID 22296450 DOI: 10.1111/J.1365-2141.2012.09028.X  0.744
2012 Schwartzentruber J, Korshunov A, Liu XY, Jones DT, Pfaff E, Jacob K, Sturm D, Fontebasso AM, Quang DA, Tönjes M, Hovestadt V, Albrecht S, Kool M, Nantel A, Konermann C, ... ... Korbel JO, et al. Driver mutations in histone H3.3 and chromatin remodelling genes in paediatric glioblastoma. Nature. 482: 226-31. PMID 22286061 DOI: 10.1038/Nature10833  0.323
2012 Rausch T, Jones DT, Zapatka M, Stütz AM, Zichner T, Weischenfeldt J, Jäger N, Remke M, Shih D, Northcott PA, Pfaff E, Tica J, Wang Q, Massimi L, Witt H, ... ... Korbel JO, et al. Genome sequencing of pediatric medulloblastoma links catastrophic DNA rearrangements with TP53 mutations. Cell. 148: 59-71. PMID 22265402 DOI: 10.1016/J.Cell.2011.12.013  0.447
2012 Jäger N, Jones DT, Kool M, Zichner T, Hutter B, Sultan M, Cho Y, Pugh TJ, Hovestadt V, Stütz AM, Rausch T, Warnatz H, Brors B, Northcott PA, Taylor MD, ... ... Korbel JO, et al. ICGC PedBrain - dissecting the genomic complexity underlying medulloblastoma using whole-genome sequencing Bmc Proceedings. 6. DOI: 10.1186/1753-6561-6-S6-P43  0.447
2012 Greil J, Rausch T, Giese T, Bandapalli OR, Daniel V, Bekeredjian-Ding I, Stuetz AM, Drees C, Roth S, Ruland J, Korbel J, Kulozik AE. Whole-Exome Sequencing Links CARD11 Inactivation with SCID Blood. 120: 258-258. DOI: 10.1182/Blood.V120.21.258.258  0.3
2012 Jones DT, Jaeger N, Cho Y, Pugh TJ, Rausch T, Stuetz A, Zichner T, Weischenfeldt J, Zapatka M, Benes V, Blake J, Northcott PA, Remke M, Witt H, Witt O, ... ... Korbel JO, et al. Abstract 4872: ICGC PedBrain Tumor - Next-generation sequencing identifies novel subgroup-specific mutations and copy number aberrations in medulloblastoma Cancer Research. 72: 4872-4872. DOI: 10.1158/1538-7445.Am2012-4872  0.444
2012 Schwartzentruber J, Korshunov A, Liu X, Jones DTW, Pfaff E, Jacob K, Sturm D, Fontebasso AM, Quang DK, Tönjes M, Hovestadt V, Albrecht S, Kool M, Nantel A, Konermann C, ... ... Korbel JO, et al. Erratum: Corrigendum: Driver mutations in histone H3.3 and chromatin remodelling genes in paediatric glioblastoma Nature. 484: 130-130. DOI: 10.1038/Nature11026  0.423
2011 Onishi-Seebacher M, Korbel JO. Challenges in studying genomic structural variant formation mechanisms: the short-read dilemma and beyond. Bioessays : News and Reviews in Molecular, Cellular and Developmental Biology. 33: 840-50. PMID 21959584 DOI: 10.1002/Bies.201100075  0.488
2011 Stewart C, Kural D, Strömberg MP, Walker JA, Konkel MK, Stütz AM, Urban AE, Grubert F, Lam HY, Lee WP, Busby M, Indap AR, Garrison E, Huff C, Xing J, ... ... Korbel JO, et al. A comprehensive map of mobile element insertion polymorphisms in humans. Plos Genetics. 7: e1002236. PMID 21876680 DOI: 10.1371/Journal.Pgen.1002236  0.659
2011 Schlattl A, Anders S, Waszak SM, Huber W, Korbel JO. Relating CNVs to transcriptome data at fine resolution: assessment of the effect of variant size, type, and overlap with functional regions. Genome Research. 21: 2004-13. PMID 21862627 DOI: 10.1101/Gr.122614.111  0.465
2011 Mills RE, Walter K, Stewart C, Handsaker RE, Chen K, Alkan C, Abyzov A, Yoon SC, Ye K, Cheetham RK, Chinwalla A, Conrad DF, Fu Y, Grubert F, Hajirasouliha I, ... ... Korbel JO, et al. Mapping copy number variation by population-scale genome sequencing. Nature. 470: 59-65. PMID 21293372 DOI: 10.1038/Nature09708  0.778
2011 Jones D, Zapatka M, Jäger N, Wang Q, Stuetz A, Rausch T, Benes V, Blake J, Korshunov A, Schmidt M, Bartholomae C, Witt O, Taylor M, Kalle Cv, Brors B, ... ... Korbel J, et al. First Results from the International Cancer Genome Consortium PedBrain Tumor Project on Whole-Genome Deep Sequencing in Medulloblastoma Klinische PäDiatrie. 223. DOI: 10.1055/S-0031-1292588  0.459
2010 Waszak SM, Hasin Y, Zichner T, Olender T, Keydar I, Khen M, Stütz AM, Schlattl A, Lancet D, Korbel JO. Systematic inference of copy-number genotypes from personal genome sequencing data reveals extensive olfactory receptor gene content diversity. Plos Computational Biology. 6: e1000988. PMID 21085617 DOI: 10.1371/Journal.Pcbi.1000988  0.55
2010 Nishant KT, Wei W, Mancera E, Argueso JL, Schlattl A, Delhomme N, Ma X, Bustamante CD, Korbel JO, Gu Z, Steinmetz LM, Alani E. The baker's yeast diploid genome is remarkably stable in vegetative growth and meiosis. Plos Genetics. 6: e1001109. PMID 20838597 DOI: 10.1371/Journal.Pgen.1001109  0.4
2010 Hudson TJ, Anderson W, Artez A, Barker AD, Bell C, Bernabé RR, Bhan MK, Calvo F, Eerola I, Gerhard DS, Guttmacher A, Guyer M, Hemsley FM, Jennings JL, ... ... Korbel JO, et al. International network of cancer genome projects. Nature. 464: 993-8. PMID 20393554 DOI: 10.1038/Nature08987  0.311
2010 Kasowski M, Grubert F, Heffelfinger C, Hariharan M, Asabere A, Waszak SM, Habegger L, Rozowsky J, Shi M, Urban AE, Hong MY, Karczewski KJ, Huber W, Weissman SM, Gerstein MB, ... Korbel JO, et al. Variation in transcription factor binding among humans. Science (New York, N.Y.). 328: 232-5. PMID 20299548 DOI: 10.1126/science.1183621  0.726
2010 Lam HY, Mu XJ, Stütz AM, Tanzer A, Cayting PD, Snyder M, Kim PM, Korbel JO, Gerstein MB. Nucleotide-resolution analysis of structural variants using BreakSeq and a breakpoint library. Nature Biotechnology. 28: 47-55. PMID 20037582 DOI: 10.1038/Nbt.1600  0.793
2010 Stütz AM, Korbel JO. Potential and challenges of personalized genomics and the 1000 Genome Project | Potenzial und Herausforderungen der personalisierten Genomik und des 1000-Genom-Projekts Medizinische Genetik. 22: 242-247. DOI: 10.1007/s11825-010-0220-5  0.354
2009 Korbel JO, Tirosh-Wagner T, Urban AE, Chen XN, Kasowski M, Dai L, Grubert F, Erdman C, Gao MC, Lange K, Sobel EM, Barlow GM, Aylsworth AS, Carpenter NJ, Clark RD, et al. The genetic architecture of Down syndrome phenotypes revealed by high-resolution analysis of human segmental trisomies. Proceedings of the National Academy of Sciences of the United States of America. 106: 12031-6. PMID 19597142 DOI: 10.1073/Pnas.0813248106  0.541
2009 Korbel JO, Abyzov A, Mu XJ, Carriero N, Cayting P, Zhang Z, Snyder M, Gerstein MB. PEMer: a computational framework with simulation-based error models for inferring genomic structural variants from massive paired-end sequencing data. Genome Biology. 10: R23. PMID 19236709 DOI: 10.1186/Gb-2009-10-2-R23  0.698
2009 Gianoulis TA, Raes J, Patel PV, Bjornson R, Korbel JO, Letunic I, Yamada T, Paccanaro A, Jensen LJ, Snyder M, Bork P, Gerstein MB. Quantifying environmental adaptation of metabolic pathways in metagenomics. Proceedings of the National Academy of Sciences of the United States of America. 106: 1374-9. PMID 19164758 DOI: 10.1073/Pnas.0808022106  0.726
2009 Demichelis F, Setlur SR, Beroukhim R, Perner S, Korbel JO, Lafargue CJ, Pflueger D, Pina C, Hofer MD, Sboner A, Svensson MA, Rickman DS, Urban A, Snyder M, Meyerson M, et al. Distinct genomic aberrations associated with ERG rearranged prostate cancer. Genes, Chromosomes & Cancer. 48: 366-80. PMID 19156837 DOI: 10.1002/Gcc.20647  0.537
2009 Wang LY, Abyzov A, Korbel JO, Snyder M, Gerstein M. MSB: a mean-shift-based approach for the analysis of structural variation in the genome. Genome Research. 19: 106-17. PMID 19037015 DOI: 10.1101/Gr.080069.108  0.542
2008 Hasin Y, Olender T, Khen M, Gonzaga-Jauregui C, Kim PM, Urban AE, Snyder M, Gerstein MB, Lancet D, Korbel JO. High-resolution copy-number variation map reflects human olfactory receptor diversity and evolution. Plos Genetics. 4: e1000249. PMID 18989455 DOI: 10.1371/Journal.Pgen.1000249  0.609
2008 Kim PM, Lam HY, Urban AE, Korbel JO, Affourtit J, Grubert F, Chen X, Weissman S, Snyder M, Gerstein MB. Analysis of copy number variants and segmental duplications in the human genome: Evidence for a change in the process of formation in recent evolutionary history. Genome Research. 18: 1865-74. PMID 18842824 DOI: 10.1101/Gr.081422.108  0.732
2008 Korbel JO, Kim PM, Chen X, Urban AE, Weissman S, Snyder M, Gerstein MB. The current excitement about copy-number variation: how it relates to gene duplications and protein families. Current Opinion in Structural Biology. 18: 366-74. PMID 18511261 DOI: 10.1016/J.Sbi.2008.02.005  0.553
2008 Lee AS, Gutiérrez-Arcelus M, Perry GH, Vallender EJ, Johnson WE, Miller GM, Korbel JO, Lee C. Analysis of copy number variation in the rhesus macaque genome identifies candidate loci for evolutionary and human disease studies. Human Molecular Genetics. 17: 1127-36. PMID 18180252 DOI: 10.1093/Hmg/Ddn002  0.495
2007 Kim PM, Korbel JO, Gerstein MB. Positive selection at the protein network periphery: evaluation in terms of structural constraints and cellular context. Proceedings of the National Academy of Sciences of the United States of America. 104: 20274-9. PMID 18077332 DOI: 10.1073/Pnas.0710183104  0.526
2007 Korbel JO, Urban AE, Affourtit JP, Godwin B, Grubert F, Simons JF, Kim PM, Palejev D, Carriero NJ, Du L, Taillon BE, Chen Z, Tanzer A, Saunders AC, Chi J, et al. Paired-end mapping reveals extensive structural variation in the human genome. Science (New York, N.Y.). 318: 420-6. PMID 17901297 DOI: 10.1126/Science.1149504  0.622
2007 Birney E, Stamatoyannopoulos JA, Dutta A, Guigó R, Gingeras TR, Margulies EH, Weng Z, Snyder M, Dermitzakis ET, Thurman RE, Kuehn MS, Taylor CM, Neph S, Koch CM, ... ... Korbel J, et al. Identification and analysis of functional elements in 1% of the human genome by the ENCODE pilot project. Nature. 447: 799-816. PMID 17571346 DOI: 10.1038/Nature05874  0.818
2007 Washietl S, Pedersen JS, Korbel JO, Stocsits C, Gruber AR, Hackermüller J, Hertel J, Lindemeyer M, Reiche K, Tanzer A, Ucla C, Wyss C, Antonarakis SE, Denoeud F, Lagarde J, et al. Structured RNAs in the ENCODE selected regions of the human genome. Genome Research. 17: 852-64. PMID 17568003 DOI: 10.1101/Gr.5650707  0.536
2007 Rozowsky JS, Newburger D, Sayward F, Wu J, Jordan G, Korbel JO, Nagalakshmi U, Yang J, Zheng D, Guigó R, Gingeras TR, Weissman S, Miller P, Snyder M, Gerstein MB. The DART classification of unannotated transcription within the ENCODE regions: associating transcription with known and novel loci. Genome Research. 17: 732-45. PMID 17567993 DOI: 10.1101/Gr.5696007  0.573
2007 Gerstein MB, Bruce C, Rozowsky JS, Zheng D, Du J, Korbel JO, Emanuelsson O, Zhang ZD, Weissman S, Snyder M. What is a gene, post-ENCODE? History and updated definition. Genome Research. 17: 669-81. PMID 17567988 DOI: 10.1101/Gr.6339607  0.645
2007 Korbel JO, Urban AE, Grubert F, Du J, Royce TE, Starr P, Zhong G, Emanuel BS, Weissman SM, Snyder M, Gerstein MB. Systematic prediction and validation of breakpoints associated with copy-number variants in the human genome. Proceedings of the National Academy of Sciences of the United States of America. 104: 10110-5. PMID 17551006 DOI: 10.1073/Pnas.0703834104  0.802
2007 Pachkov M, Dandekar T, Korbel J, Bork P, Schuster S. Use of pathway analysis and genome context methods for functional genomics of Mycoplasma pneumoniae nucleotide metabolism. Gene. 396: 215-25. PMID 17467928 DOI: 10.1016/J.Gene.2007.02.033  0.655
2007 Li L, Wang X, Sasidharan R, Stolc V, Deng W, He H, Korbel J, Chen X, Tongprasit W, Ronald P, Chen R, Gerstein M, Deng XW. Global identification and characterization of transcriptionally active regions in the rice genome Plos One. 2. PMID 17372628 DOI: 10.1371/Journal.Pone.0000294  0.607
2007 Raes J, Korbel JO, Lercher MJ, von Mering C, Bork P. Prediction of effective genome size in metagenomic samples. Genome Biology. 8: R10. PMID 17224063 DOI: 10.1186/Gb-2007-8-1-R10  0.771
2006 Rozowsky J, Wu J, Lian Z, Nagalakshmi U, Korbel JO, Kapranov P, Zheng D, Dyke S, Newburger P, Miller P, Gingeras TR, Weissman S, Gerstein M, Snyder M. Novel transcribed regions in the human genome. Cold Spring Harbor Symposia On Quantitative Biology. 71: 111-6. PMID 17381286 DOI: 10.1101/Sqb.2006.71.054  0.531
2006 Du J, Rozowsky JS, Korbel JO, Zhang ZD, Royce TE, Schultz MH, Snyder M, Gerstein M. A supervised hidden markov model framework for efficiently segmenting tiling array data in transcriptional and chIP-chip experiments: systematically incorporating validated biological knowledge. Bioinformatics (Oxford, England). 22: 3016-24. PMID 17038339 DOI: 10.1093/Bioinformatics/Btl515  0.761
2006 Urban AE, Korbel JO, Selzer R, Richmond T, Hacker A, Popescu GV, Cubells JF, Green R, Emanuel BS, Gerstein MB, Weissman SM, Snyder M. High-resolution mapping of DNA copy alterations in human chromosome 22 using high-density tiling oligonucleotide arrays. Proceedings of the National Academy of Sciences of the United States of America. 103: 4534-9. PMID 16537408 DOI: 10.1073/Pnas.0511340103  0.548
2006 Yanai I, Korbel JO, Boue S, McWeeney SK, Bork P, Lercher MJ. Similar gene expression profiles do not imply similar tissue functions. Trends in Genetics : Tig. 22: 132-8. PMID 16480787 DOI: 10.1016/J.Tig.2006.01.006  0.659
2005 Korbel JO, Doerks T, Jensen LJ, Perez-Iratxeta C, Kaczanowski S, Hooper SD, Andrade MA, Bork P. Systematic association of genes to phenotypes by genome and literature mining. Plos Biology. 3: e134. PMID 15799710 DOI: 10.1371/Journal.Pbio.0030134  0.795
2004 Korbel JO, Jensen LJ, von Mering C, Bork P. Analysis of genomic context: prediction of functional associations from conserved bidirectionally transcribed gene pairs. Nature Biotechnology. 22: 911-7. PMID 15229555 DOI: 10.1038/Nbt988  0.775
2004 Pena RN, Webster J, Kwan S, Korbel J, Whitelaw BA. Transgene methylation in mice reflects copy number but not expression level Applied Biochemistry and Biotechnology - Part B Molecular Biotechnology. 26: 215-219. PMID 15004290 DOI: 10.1385/Mb:26:3:215  0.317
2004 Crass T, Antes I, Basekow R, Bork P, Buning C, Christensen M, Claussen H, Ebeling C, Ernst P, Gailus-Durner V, Glatting KH, Gohla R, Gössling F, Grote K, Heidtke K, ... ... Korbel JO, et al. The Helmholtz Network for Bioinformatics: an integrative web portal for bioinformatics resources. Bioinformatics (Oxford, England). 20: 268-70. PMID 14734319 DOI: 10.1093/Bioinformatics/Btg398  0.71
2003 Morett E, Korbel JO, Rajan E, Saab-Rincon G, Olvera L, Olvera M, Schmidt S, Snel B, Bork P. Systematic discovery of analogous enzymes in thiamin biosynthesis. Nature Biotechnology. 21: 790-5. PMID 12794638 DOI: 10.1038/Nbt834  0.692
2002 Korbel JO, Snel B, Huynen MA, Bork P. SHOT: a web server for the construction of genome phylogenies. Trends in Genetics : Tig. 18: 158-62. PMID 11858840 DOI: 10.1016/S0168-9525(01)02597-5  0.789
2002 Morett E, Korbel JO, Rajan E, Saab-Rincon G, Olveral L, Olveral M, Schmidt S, Snel B, Bork P. Discovery of Analogous Enzymes in Thiamin Biosynthesis by Anticorrelation Genome Informatics. 13: 365-366. DOI: 10.11234/Gi1990.13.365  0.737
2001 Herzel H, Beule D, Kielbasa S, Korbel J, Sers C, Malik A, Eickhoff H, Lehrach H, Schuchhardt J. Extracting information from cDNA arrays. Chaos (Woodbury, N.Y.). 11: 98-107. PMID 12779445 DOI: 10.1063/1.1336843  0.305
2001 Kie?basa SM, Korbel JO, Beule D, Schuchhardt J, Herzel H. Combining frequency and positional information to predict transcription factor binding sites. Bioinformatics (Oxford, England). 17: 1019-26. PMID 11724730 DOI: 10.1093/Bioinformatics/17.11.1019  0.387
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