Publikationen von Uirá Souto Melo

Gabriel M. C. Longo , Sergi Sayols, Maria E. Stefanova, Ting Xie, Waheba Elsayed, Anastasia Panagi , Amalia I. Stavridou, Giuseppe Petrosino, Elizabeth Ing-Simmons, Uirá Souto Melo, Henrike J. Gothe, Juan M. Vaquerizas, Andriana G. Kotini , Argyris Papantonis, Stefan Mundlos, and Vassilis Roukos , "Type II topoisomerases shape multi-scale 3D chromatin folding in regions of positive supercoils," Molecular Cell 84 (22), 4267-4281 (2024).

Reza Maroofian, Alistair T. Pagnamenta, Alireza Navabazam, Ron Schwessinger, Hannah E. Roberts, Maria Lopopolo, Mohammadreza Dehghani, Mohammad Yahya Vahidi Mehrjardi, Alireza Haerian, Mojtaba Soltanianzadeh, Mohammad Hadi Noori Kooshki, Samantha J. L. Knight, Kerry A. Miller, Simon J. McGowan, Nicolas Chatron, Andrew T. Timberlake, Uirá Souto Melo, Stefan Mundlos, David Buck, Stephen R. F. Twigg, Jenny C. Taylor , Andrew O. M. Wilkie, and Eduardo Calpena, "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).

Paola Dimartino, Mariia Zadorozhna, Verónica Yumiceba, Anna Basile, Ilaria Cani, Uirá Souto Melo, Jana Henck, Marjolein Breur, Caterina Tonon, Raffaele Lodi, Alfredo Brusco, Tommaso Pippucci, Foteini-Dionysia Koufi, Elisa Boschetti, Giulia Ramazzotti, Lucia Manzoli, Stefano Ratti, Filippo Pinto E. Vairo, Martin B. Delatycki, Giovanna Vaula, Pietro Cortelli, Marianna Bugiani, Malte Spielmann, and Elisa Giorgio, "Structural Variants at the LMNB1 Locus: Deciphering Pathomechanisms in Autosomal Dominant Adult-Onset Demyelinating Leukodystrophy," Annals of Neurology 96 (5), 855-870 (2024).

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

Manon Baudic, Hiroshige Murata, Fernanda M. Bosada, Uirá Souto Melo, and Takanori et al Aizawa, "TAD boundary deletion causes PITX2-related cardiac electrical and structural defects," Nature Communications 15 (1), Article 3380 (2024).

Marius-Konstantin Klever, Eric Sträng , Sara Hetzel, Julius Jungnitsch, Anna Dolnik, Robert Schöpflin, Jens-Florian Schrezenmeier, Felix Schick, Olga Blau, Jörg Westermann, Frank G . Rücker , Zuyao Xia, Konstanze Döhner, Hubert Schrezenmeier, Malte Spielmann, Alexander Meissner, Uirá Souto Melo, Stefan Mundlos, and Lars Bullinger, "AML with complex karyotype: extreme genomic complexity revealed by combined long-read sequencing and Hi-C technology," Blood Advances 7 (21), 6520-6531 (2023).

Uirá Souto Melo, Jerome Jatzlau, César A. Prada-Medina, Elisabetta Flex, Sunhild Hartmann, Salaheddine Ali, Robert Schöpflin, Laura Bernardini, Andrea Ciolfi, Hossein Moeinzadeh, Marius-Konstantin Klever, Aybuge Altay, Pedro Vallecillo-García, Giovanna Carpentieri, Massimo Delledonne, Melanie-Jasmin Ort, Marko Schwestka, Giovanni Battista Ferrero, Marco Tartaglia, Alfredo Brusco, Manfred Gossen, Dirk Strunk, Sven Geißler, Stefan Mundlos, Sigmar Stricker, Petra Knaus, Elisa Giorgio, and Malte Spielmann, "Enhancer hijacking at the ARHGAP36 locus is associated with connective tissue to bone transformation," Nature Communications 14 (1), 2034 (2023).

Robert Schöpflin, Uirá Souto Melo, Mohammad Hossein Moeinzadeh, David Heller, Verena Laupert, Jakob Hertzberg, Manuel Holtgrewe, Nico Alavi, Marius-Konstantin Klever, Julius Jungnitsch, Emel Comak, Seval Türkmen, Denise Horn, Yannis Duffourd, Laurence Faivre, Patrick Callier, Damien Sanlaville, Orsetta Zuffardi, Romano Tenconi, Nehir Edibe Kurtas, Sabrina Giglio, Bettina Prager, Anna Latos-Bielenska, Ida Vogel, Merete Bugge, Niels Tommerup, Malte Spielmann, Antonio Vitobello, Vera M. Kalscheuer, Martin Vingron, and Stefan Mundlos, "Integration of Hi-C with short and long-read genome sequencing reveals the structure of germline rearranged genomes," Nature Communications 13 (1), 6470 (2022).

Uirá Souto Melo, Juliette Piard, Björn Fischer-Zirnsak, Marius-Konstantin Klever, Robert Schöpflin, Martin Atta Mensah, Manuel Holtgrewe, Francine Arbez-Gindre, Alain Martin, Virginie Guigue, Dominique Gaillard, Emilie Landais, Virginie Roze, Valerie Kremer, Rajeev Ramanah, Christelle Cabrol, Frederike L. Harms, Uwe Kornak, Malte Spielmann, Stefan Mundlos, and Lionel Van Maldergem, "Complete lung agenesis caused by complex genomic rearrangements with neo-TAD formation at the SHH locus," Human Genetics 140 (10), 1459-1469 (2021).

Magdalena Socha, Anna Sowińska-Seidler, Uirá Souto Melo, Bjørt K. Kragesteen, Martin Franke, Verena Heinrich, Robert Schöpflin, Inga Nagel, Nicolas Gruchy, Stefan Mundlos, Varun K. A. Sreenivasan, Cristina López, Martin Vingron, Ewelina Bukowska-Olech, Malte Spielmann, and Aleksander Jamsheer, "Position effects at the FGF8 locus are associated with femoral hypoplasia," The American Journal of Human Genetics 108 (9), 1725-1734 (2021).

Uirá Souto Melo, Devon Bonner, Kevin C. Kent Lloyd, Ala Moshiri, Brandon Willis, Louise Lanoue, Lynette Bower, Brian C. Leonard, Davi Jardim Martins, Fernando Gomes, Felipe de Souza Leite, Danyllo Oliveira, João Paulo Kitajima, Fabiola P. Monteiro, Mayana Zatz, Carlos Frederico Martins Menck, Matthew T. Wheeler, Jonathan A. Bernstein, Kevin Dumas, Elizabeth Spiteri, Nataliya Di Donato, Arne Jahn, Mais Hashem, Hessa S. Alsaif, Aziza Chedrawi, Fowzan S. Alkuraya, Fernando Kok, and Heather M. Byers, "Biallelic UBE4A loss-of-function variants cause intellectual disability and global developmental delay," GENETICS IN MEDICINE 23 (4), 661-668 (2021).

Uirá Souto Melo, Robert Schöpflin, Rocio Acuna-Hidalgo, Martin Atta Mensah, Björn Fischer-Zirnsak, Manuel Holtgrewe, Marius-Konstantin Klever, Seval Türkmen, Verena Heinrich, Ilina Datkhaeva Pluym, Eunice Matoso, Sérgio Bernardo de Sousa, Pedro Louro, Wiebke Hülsemann, Monika Cohen, Andreas Dufke, Anna Latos-Bieleńska, Martin Vingron, Vera Kalscheuer, Fabiola Quintero-Rivera, Malte Spielmann, and Stefan Mundlos, "Hi-C Identifies Complex Genomic Rearrangements and TAD-Shuffling in Developmental Diseases," The American Journal of Human Genetics 106 (6), 872-884 (2020).

Marius-Konstantin Klever, Eric Sträng, Julius Jungnitsch, Uirá Souto Melo, Sara Hetzel, Anna Dolnik, Robert Schöpflin, Jens F. Schrezenmeier, Olga Blau, Jörg Westermann, Konstanze Döhner, Hubert Schrezenmeier, Malte Spielmann, Alexander Meissner, Stefan Mundlos, and Lars Bullinger, "Integration of Hi-C and Nanopore Sequencing for Structural Variant Analysis in AML with a Complex Karyotype: (Chromothripsis)²", in Blood, (American Society of Hematology, Washington, DC, 2020), Vol. 136.