Publications of Uirá Souto Melo

Longo , G. M. C.; Sayols, S.; Stefanova, M. E.; Xie, T.; Elsayed, W.; Panagi , A.; Stavridou, A. I.; Petrosino, G.; Ing-Simmons, E.; Melo, U. S. et al.; Gothe, H. J.; Vaquerizas, J. M.; Kotini , A. G.; Papantonis, A.; Mundlos, S.; Roukos , V.: Type II topoisomerases shape multi-scale 3D chromatin folding in regions of positive supercoils. Molecular Cell 84 (22), pp. 4267 - 4281 (2024)

Maroofian, R.; Pagnamenta, A. T.; Navabazam, A.; Schwessinger, R.; Roberts, H. E.; Lopopolo, M.; Dehghani, M.; Mehrjardi, M. Y. V.; Haerian, A.; Soltanianzadeh, M. et al.; Kooshki, M. H. N.; Knight, S. J. L.; Miller, K. A.; McGowan, S. J.; Chatron, N.; Timberlake, A. T.; Melo, U. S.; Mundlos, S.; Buck, D.; Twigg, S. R. F.; Taylor , J. C.; Wilkie, A. O. M.; Calpena, E.: Familial severe skeletal Class II malocclusion with gingival hyperplasia caused by a complex structural rearrangement at the KCNJ2-KCNJ16 locus. HGG Advances: Human Genetics and Genomics Advances 5 (4), Article 100352 (2024)

Dimartino, P.; Zadorozhna, M.; Yumiceba, V.; Basile, A.; Cani, I.; Melo, U. S.; Henck, J.; Breur, M.; Tonon, C.; Lodi, R. et al.; Brusco, A.; Pippucci, T.; Koufi, F.-D.; Boschetti, E.; Ramazzotti, G.; Manzoli, L.; Ratti, S.; Vairo, F. P. E.; Delatycki, M. B.; Vaula, G.; Cortelli, P.; Bugiani, M.; Spielmann, M.; Giorgio, E.: Structural Variants at the LMNB1 Locus: Deciphering Pathomechanisms in Autosomal Dominant Adult-Onset Demyelinating Leukodystrophy. Annals of Neurology 96 (5), pp. 855 - 870 (2024)

Oliveira, D.; Assoni, A. F.; Alves, L. M.; Sakugawa, A.; Melo, U. S.; Teles e Silva, A. L.; Sertie, A. L.; Caires, L. C.; Goulart, E.; Ghirotto, B. et al.; Carvalho, V. M.; Ferrari, M. R.; Zatz, M.: ALS-associated VRK1 R321C mutation causes proteostatic imbalance and mitochondrial defects in iPSC-derived motor neurons. Neurobiology of Disease 198, Article 106540 (2024)

Baudic, M.; Murata, H.; Bosada, F. M.; Melo, U. S.; Aizawa, T. e. a.: TAD boundary deletion causes PITX2-related cardiac electrical and structural defects. Nature Communications 15 (1), Article 3380 (2024)

Klever, M.-K.; Sträng , E.; Hetzel, S.; Jungnitsch, J.; Dolnik, A.; Schöpflin, R.; Schrezenmeier, J.-F.; Schick, F.; Blau, O.; Westermann, J. et al.; Rücker , F. G. ..; Xia, Z.; Döhner, K.; Schrezenmeier, H.; Spielmann, M.; Meissner, A.; Melo, U. S.; Mundlos, S.; Bullinger, L.: AML with complex karyotype: extreme genomic complexity revealed by combined long-read sequencing and Hi-C technology. Blood Advances 7 (21), pp. 6520 - 6531 (2023)

Melo, U. S.; Jatzlau, J.; Prada-Medina, C. A.; Flex, E.; Hartmann, S.; Ali, S.; Schöpflin, R.; Bernardini, L.; Ciolfi, A.; Moeinzadeh, H. et al.; Klever, M.-K.; Altay, A.; Vallecillo-García, P.; Carpentieri, G.; Delledonne, M.; Ort, M.-J.; Schwestka, M.; Battista Ferrero, G.; Tartaglia, M.; Brusco, A.; Gossen, M.; Strunk, D.; Geißler, S.; Mundlos, S.; Stricker, S.; Knaus, P.; Giorgio, E.; Spielmann, M.: Enhancer hijacking at the ARHGAP36 locus is associated with connective tissue to bone transformation. Nature Communications 14 (1), 2034 (2023)

Schöpflin, R.; Melo, U. S.; Moeinzadeh, M. H.; Heller, D.; Laupert, V.; Hertzberg, J.; Holtgrewe, M.; Alavi, N.; Klever, M.-K.; Jungnitsch, J. et al.; Comak, E.; Türkmen, S.; Horn, D.; Duffourd, Y.; Faivre, L.; Callier, P.; Sanlaville, D.; Zuffardi, O.; Tenconi, R.; Kurtas, N. E.; Giglio, S.; Prager, B.; Latos-Bielenska, A.; Vogel, I.; Bugge, M.; Tommerup, N.; Spielmann, M.; Vitobello, A.; Kalscheuer, V. M.; Vingron, M.; Mundlos, S.: Integration of Hi-C with short and long-read genome sequencing reveals the structure of germline rearranged genomes. Nature Communications 13 (1), 6470 (2022)

Melo, U. S.; Piard, J.; Fischer-Zirnsak, B.; Klever, M.-K.; Schöpflin, R.; Atta Mensah, M.; Holtgrewe, M.; Arbez-Gindre, F.; Martin, A.; Guigue, V. et al.; Gaillard, D.; Landais, E.; Roze, V.; Kremer, V.; Ramanah, R.; Cabrol, C.; Harms, F. L.; Kornak, U.; Spielmann, M.; Mundlos, S.; Van Maldergem, L.: Complete lung agenesis caused by complex genomic rearrangements with neo-TAD formation at the SHH locus. Human Genetics 140 (10), pp. 1459 - 1469 (2021)

Socha, M.; Sowińska-Seidler, A.; Melo, U. S.; Kragesteen, B. K.; Franke, M.; Heinrich, V.; Schöpflin, R.; Nagel, I.; Gruchy, N.; Mundlos, S. et al.; Sreenivasan, V. K. A.; López, C.; Vingron, M.; Bukowska-Olech, E.; Spielmann, M.; Jamsheer, A.: Position effects at the FGF8 locus are associated with femoral hypoplasia. The American Journal of Human Genetics 108 (9), pp. 1725 - 1734 (2021)

Melo, U. S.; Bonner, D.; Lloyd, K. C. K.; Moshiri, A.; Willis, B.; Lanoue, L.; Bower, L.; Leonard, B. C.; Martins, D. J.; Gomes, F. et al.; de Souza Leite, F.; Oliveira, D.; Kitajima, J. P.; Monteiro, F. P.; Zatz, M.; Martins Menck, C. F.; Wheeler, M. T.; Bernstein, J. A.; Dumas, K.; Spiteri, E.; Di Donato, N.; Jahn, A.; Hashem, M.; Alsaif, H. S.; Chedrawi, A.; Alkuraya, F. S.; Kok, F.; Byers, H. M.: Biallelic UBE4A loss-of-function variants cause intellectual disability and global developmental delay. GENETICS IN MEDICINE 23 (4), pp. 661 - 668 (2021)

Melo, U. S.; Schöpflin, R.; Acuna-Hidalgo, R.; Mensah, M. A.; Fischer-Zirnsak, B.; Holtgrewe, M.; Klever, M.-K.; Türkmen, S.; Heinrich, V.; Datkhaeva Pluym, I. et al.; Matoso, E.; de Sousa, S. B.; Louro, P.; Hülsemann, W.; Cohen, M.; Dufke, A.; Latos-Bieleńska, A.; Vingron, M.; Kalscheuer, V.; Quintero-Rivera, F.; Spielmann, M.; Mundlos, S.: Hi-C Identifies Complex Genomic Rearrangements and TAD-Shuffling in Developmental Diseases. The American Journal of Human Genetics 106 (6), pp. 872 - 884 (2020)

Klever, M.-K.; Sträng, E.; Jungnitsch, J.; Melo, U. S.; Hetzel, S.; Dolnik, A.; Schöpflin, R.; Schrezenmeier, J. F.; Blau, O.; Westermann, J. et al.; Döhner, K.; Schrezenmeier, H.; Spielmann, M.; Meissner, A.; Mundlos, S.; Bullinger, L.: Integration of Hi-C and Nanopore Sequencing for Structural Variant Analysis in AML with a Complex Karyotype: (Chromothripsis)². 62nd Annual Meeting and Exposition of the American Society of Hematology (ASH) (Virtual meeting), December 05, 2020 - December 08, 2020. Blood 136, Article 28, (2020)