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Page 1
Single-cell transcriptomics and epigenomics unravel the role of monocytes in neuroblastoma bone marrow metastasis.
Fetahu IS, Esser-Skala W, Dnyansagar R, Sindelar S, Rifatbegovic F, Bileck A, Skos L, Bozsaky E, Lazic D, Shaw L, Tötzl M, Tarlungeanu D, Bernkopf M, Rados M, Weninger W, Tomazou EM, Bock C, Gerner C, Ladenstein R, Farlik M, Fortelny N, Taschner-Mandl S. Fetahu IS, et al. Among authors: bernkopf m. Nat Commun. 2023 Jun 26;14(1):3620. doi: 10.1038/s41467-023-39210-0. Nat Commun. 2023. PMID: 37365178 Free PMC article.
Disruption of the methyltransferase-like 23 gene METTL23 causes mild autosomal recessive intellectual disability.
Bernkopf M, Webersinke G, Tongsook C, Koyani CN, Rafiq MA, Ayaz M, Müller D, Enzinger C, Aslam M, Naeem F, Schmidt K, Gruber K, Speicher MR, Malle E, Macheroux P, Ayub M, Vincent JB, Windpassinger C, Duba HC. Bernkopf M, et al. Hum Mol Genet. 2014 Aug 1;23(15):4015-23. doi: 10.1093/hmg/ddu115. Epub 2014 Mar 13. Hum Mol Genet. 2014. PMID: 24626631 Free PMC article.
amplimap: a versatile tool to process and analyze targeted NGS data.
Koelling N, Bernkopf M, Calpena E, Maher GJ, Miller KA, Ralph HK, Goriely A, Wilkie AOM. Koelling N, et al. Among authors: bernkopf m. Bioinformatics. 2019 Dec 15;35(24):5349-5350. doi: 10.1093/bioinformatics/btz582. Bioinformatics. 2019. PMID: 31350555 Free PMC article.
Multimodal analysis of cell-free DNA whole-genome sequencing for pediatric cancers with low mutational burden.
Peneder P, Stütz AM, Surdez D, Krumbholz M, Semper S, Chicard M, Sheffield NC, Pierron G, Lapouble E, Tötzl M, Ergüner B, Barreca D, Rendeiro AF, Agaimy A, Boztug H, Engstler G, Dworzak M, Bernkopf M, Taschner-Mandl S, Ambros IM, Myklebost O, Marec-Bérard P, Burchill SA, Brennan B, Strauss SJ, Whelan J, Schleiermacher G, Schaefer C, Dirksen U, Hutter C, Boye K, Ambros PF, Delattre O, Metzler M, Bock C, Tomazou EM. Peneder P, et al. Among authors: bernkopf m. Nat Commun. 2021 May 28;12(1):3230. doi: 10.1038/s41467-021-23445-w. Nat Commun. 2021. PMID: 34050156 Free PMC article.
Frequency and Prognostic Impact of ALK Amplifications and Mutations in the European Neuroblastoma Study Group (SIOPEN) High-Risk Neuroblastoma Trial (HR-NBL1).
Bellini A, Pötschger U, Bernard V, Lapouble E, Baulande S, Ambros PF, Auger N, Beiske K, Bernkopf M, Betts DR, Bhalshankar J, Bown N, de Preter K, Clément N, Combaret V, Font de Mora J, George SL, Jiménez I, Jeison M, Marques B, Martinsson T, Mazzocco K, Morini M, Mühlethaler-Mottet A, Noguera R, Pierron G, Rossing M, Taschner-Mandl S, Van Roy N, Vicha A, Chesler L, Balwierz W, Castel V, Elliott M, Kogner P, Laureys G, Luksch R, Malis J, Popovic-Beck M, Ash S, Delattre O, Valteau-Couanet D, Tweddle DA, Ladenstein R, Schleiermacher G. Bellini A, et al. Among authors: bernkopf m. J Clin Oncol. 2021 Oct 20;39(30):3377-3390. doi: 10.1200/JCO.21.00086. Epub 2021 Jun 11. J Clin Oncol. 2021. PMID: 34115544 Free PMC article.
Landscape of Bone Marrow Metastasis in Human Neuroblastoma Unraveled by Transcriptomics and Deep Multiplex Imaging.
Lazic D, Kromp F, Rifatbegovic F, Repiscak P, Kirr M, Mivalt F, Halbritter F, Bernkopf M, Bileck A, Ussowicz M, Ambros IM, Ambros PF, Gerner C, Ladenstein R, Ostalecki C, Taschner-Mandl S. Lazic D, et al. Among authors: bernkopf m. Cancers (Basel). 2021 Aug 26;13(17):4311. doi: 10.3390/cancers13174311. Cancers (Basel). 2021. PMID: 34503120 Free PMC article.
The evolutionary dynamics of extrachromosomal DNA in human cancers.
Lange JT, Rose JC, Chen CY, Pichugin Y, Xie L, Tang J, Hung KL, Yost KE, Shi Q, Erb ML, Rajkumar U, Wu S, Taschner-Mandl S, Bernkopf M, Swanton C, Liu Z, Huang W, Chang HY, Bafna V, Henssen AG, Werner B, Mischel PS. Lange JT, et al. Among authors: bernkopf m. Nat Genet. 2022 Oct;54(10):1527-1533. doi: 10.1038/s41588-022-01177-x. Epub 2022 Sep 19. Nat Genet. 2022. PMID: 36123406 Free PMC article.
Novel Insights into Diagnosis, Biology and Treatment of Primary Diffuse Leptomeningeal Melanomatosis.
Baumgartner A, Stepien N, Mayr L, Madlener S, Dorfer C, Schmook MT, Traub-Weidinger T, Lötsch-Gojo D, Kirchhofer D, Reisinger D, Hedrich C, Arshad S, Irschik S, Boztug H, Engstler G, Bernkopf M, Rifatbegovic F, Höller C, Slavc I, Berger W, Müllauer L, Haberler C, Azizi AA, Peyrl A, Gojo J. Baumgartner A, et al. Among authors: bernkopf m. J Pers Med. 2021 Apr 12;11(4):292. doi: 10.3390/jpm11040292. J Pers Med. 2021. PMID: 33921303 Free PMC article.
Personalized recurrence risk assessment following the birth of a child with a pathogenic de novo mutation.
Bernkopf M, Abdullah UB, Bush SJ, Wood KA, Ghaffari S, Giannoulatou E, Koelling N, Maher GJ, Thibaut LM, Williams J, Blair EM, Kelly FB, Bloss A, Burkitt-Wright E, Canham N, Deng AT, Dixit A, Eason J, Elmslie F, Gardham A, Hay E, Holder M, Homfray T, Hurst JA, Johnson D, Jones WD, Kini U, Kivuva E, Kumar A, Lees MM, Leitch HG, Morton JEV, Németh AH, Ramachandrappa S, Saunders K, Shears DJ, Side L, Splitt M, Stewart A, Stewart H, Suri M, Clouston P, Davies RW, Wilkie AOM, Goriely A. Bernkopf M, et al. Nat Commun. 2023 Feb 15;14(1):853. doi: 10.1038/s41467-023-36606-w. Nat Commun. 2023. PMID: 36792598 Free PMC article.
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