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Page 1
AML with complex karyotype: extreme genomic complexity revealed by combined long-read sequencing and Hi-C technology.
Blood Adv. 2023 Nov 14;7(21):6520-6531. doi: 10.1182/bloodadvances.2023010887.
Blood Adv. 2023.
PMID: 37582288
Free PMC article.
Enhancer hijacking at the ARHGAP36 locus is associated with connective tissue to bone transformation.
Melo US, Jatzlau J, Prada-Medina CA, Flex E, Hartmann S, Ali S, Schöpflin R, Bernardini L, Ciolfi A, Moeinzadeh MH, Klever MK, Altay A, Vallecillo-García P, Carpentieri G, Delledonne M, Ort MJ, Schwestka M, Ferrero GB, Tartaglia M, Brusco A, Gossen M, Strunk D, Geißler S, Mundlos S, Stricker S, Knaus P, Giorgio E, Spielmann M.
Melo US, et al. Among authors: klever mk.
Nat Commun. 2023 Apr 11;14(1):2034. doi: 10.1038/s41467-023-37585-8.
Nat Commun. 2023.
PMID: 37041138
Free PMC article.
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Integration of Hi-C with short and long-read genome sequencing reveals the structure of germline rearranged genomes.
Schöpflin R, Melo US, Moeinzadeh H, Heller D, Laupert V, Hertzberg J, Holtgrewe M, Alavi N, Klever MK, Jungnitsch J, Comak E, Türkmen S, Horn D, Duffourd Y, Faivre L, Callier P, Sanlaville D, Zuffardi O, Tenconi R, Kurtas NE, Giglio S, Prager B, Latos-Bielenska A, Vogel I, Bugge M, Tommerup N, Spielmann M, Vitobello A, Kalscheuer VM, Vingron M, Mundlos S.
Schöpflin R, et al. Among authors: klever mk.
Nat Commun. 2022 Oct 29;13(1):6470. doi: 10.1038/s41467-022-34053-7.
Nat Commun. 2022.
PMID: 36309531
Free PMC article.
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Hi-C Identifies Complex Genomic Rearrangements and TAD-Shuffling in Developmental Diseases.
Melo US, Schöpflin R, Acuna-Hidalgo R, Mensah MA, Fischer-Zirnsak B, Holtgrewe M, Klever MK, Türkmen S, Heinrich V, Pluym ID, Matoso E, Bernardo de Sousa S, Louro P, Hülsemann W, Cohen M, Dufke A, Latos-Bieleńska A, Vingron M, Kalscheuer V, Quintero-Rivera F, Spielmann M, Mundlos S.
Melo US, et al. Among authors: klever mk.
Am J Hum Genet. 2020 Jun 4;106(6):872-884. doi: 10.1016/j.ajhg.2020.04.016. Epub 2020 May 28.
Am J Hum Genet. 2020.
PMID: 32470376
Free PMC article.
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Author Correction: Enhancer hijacking at the ARHGAP36 locus is associated with connective tissue to bone transformation.
Melo US, Jatzlau J, Prada-Medina CA, Flex E, Hartmann S, Ali S, Schöpflin R, Bernardini L, Ciolfi A, Moeinzadeh MH, Klever MK, Altay A, Vallecillo-García P, Carpentieri G, Delledonne M, Ort MJ, Schwestka M, Ferrero GB, Tartaglia M, Brusco A, Gossen M, Strunk D, Geißler S, Mundlos S, Stricker S, Knaus P, Giorgio E, Spielmann M.
Melo US, et al. Among authors: klever mk.
Nat Commun. 2023 Oct 9;14(1):6301. doi: 10.1038/s41467-023-42123-7.
Nat Commun. 2023.
PMID: 37813867
Free PMC article.
No abstract available.
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Complete lung agenesis caused by complex genomic rearrangements with neo-TAD formation at the SHH locus.
Melo US, Piard J, Fischer-Zirnsak B, Klever MK, Schöpflin R, Mensah MA, Holtgrewe M, Arbez-Gindre F, Martin A, Guigue V, Gaillard D, Landais E, Roze V, Kremer V, Ramanah R, Cabrol C, Harms FL, Kornak U, Spielmann M, Mundlos S, Van Maldergem L.
Melo US, et al. Among authors: klever mk.
Hum Genet. 2021 Oct;140(10):1459-1469. doi: 10.1007/s00439-021-02344-6. Epub 2021 Aug 26.
Hum Genet. 2021.
PMID: 34436670
Free PMC article.
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