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EEFSEC deficiency: A selenopathy with early-onset neurodegeneration Laugwitz, Lucia; Buchert, Rebecca; Olguin, Patricio; Estiar, Mehrdad A.; Atanasova, Mihaela; Marques, Wilson, Jr.; Enssle, Joerg; Marsden, Brian; Aviles, Javiera; Gonzalez-Gutierrez, Andres; Candia, Noemi; Fabiano, Marietta; Morlot, Susanne; Peralta, Susana; Groh, Alisa; Schillinger, Carmen; Kuehn, Carolin; Sofan, Linda; Sturm, Marc; Bender, Benjamin; Tomaselli, Pedro J.; Diebold, Uta; Mueller, Amelie J.; Spranger, Stephanie; Fuchs, Maren; Freua, Fernando; Melo, Uira Souto; Mattas, Lauren; Ashtiani, Setareh; Suchowersky, Oksana; Groeschel, Samuel; Rouleau, Guy A.; Yosovich, Keren; Michelson, Marina; Leibovitz, Zvi; Bilal, Muhammad; Uctepe, Eyyup; Yesilyurt, Ahmet; Ozdogan, Orhan; Celik, Tamer; Kraegeloh-Mann, Ingeborg; Riess, Olaf; Rosewich, Hendrik; Umair, Muhammad; Lev, Dorit; Zuchner, Stephan; Schweizer, Ulrich; Lynch, David S.; Gan-Or, Ziv; Hack, Tobias B. Share Save
Inter-chromosomal insertions at Xq27.1 associated with retinal dystrophy induce dysregulation of LINC00632 and CDR1as/ciRS-7 Gardner, Jessica C.; Jovanovic, Katarina; Ottaviani, Daniele; Melo, Uira Souto; Jackson, Joshua; Guarascio, Rosellina; Ziaka, Kalliopi; Hau, Kwan-Leong; Lane, Amelia; Taylor, Rachel L.; Chai, Niuzheng; Gkertsou, Christina; Fernando, Owen; Piwecka, Monika; Georgiou, Michalis; Mundlos, Stefan; Black, Graeme C.; Moore, Anthony T.; Michaelides, Michel; Cheetham, Michael E.; Hardcastle, Alison J. Share Save
Type II topoisomerases shape multi-scale 3D chromatin folding in regions of positive supercoils Longo, Gabriel M. C.; Sayols, Sergi; Stefanova, Maria E.; Xie, Ting; Elsayed, Waheba; Panagi, Anastasia; Stavridou, Amalia I.; Petrosino, Giuseppe; Ing-Simmons, Elizabeth; Melo, Uira Souto; Gothe, Henrike J.; Vaquerizas, Juan M.; Kotini, Andriana G.; Papantonis, Argyris; Mundlos, Stefan; Roukos, Vassilis Share Save
Familial severe skeletal Class II malocclusion with gingival hyperplasia caused by a complex structural rearrangement at the KCNJ2-KCNJ16 locus Maroofian, Reza; Pagnamenta, Alistair T.; Navabazam, Alireza; Schwessinger, Ron; Roberts, Hannah E.; Lopopolo, Maria; Dehghani, Mohammadreza; Mehrjardi, Mohammad Yahya Vahidi; Haerian, Alireza; Soltanianzadeh, Mojtaba; Kooshki, Mohammad Hadi Noori; Knight, Samantha J. L.; Miller, Kerry A.; McGowan, Simon J.; Chatron, Nicolas; Timberlake, Andrew T.; Melo, Uira Souto; Mundlos, Stefan; Buck, David; Twigg, Stephen R. F.; Taylor, Jenny C.; Wilkie, Andrew O. M.; Calpena, Eduardo Share Save
ALS-associated VRK1 R321C mutation causes proteostatic imbalance and mitochondrial defects in iPSC-derived motor neurons Oliveira, D.; Assoni, A. F.; Alves, L. M.; Sakugawa, A.; Melo, U. S.; Teles eSilva, A. L.; Sertie, A. L.; Caires, L. C.; Goulart, E.; Ghirotto, B.; Carvalho, V. M.; Ferrari, M. R.; Zatz, M. Share Save
Structural Variants at the LMNB1 Locus: Deciphering Pathomechanisms in Autosomal Dominant Adult-Onset Demyelinating Leukodystrophy Dimartino, Paola; Zadorozhna, Mariia; Yumiceba, Veronica; Basile, Anna; Cani, Ilaria; Melo, Uira Souto; Henck, Jana; Breur, Marjolein; Tonon, Caterina; Lodi, Raffaele; Brusco, Alfredo; Pippucci, Tommaso; Koufi, Foteini-Dionysia; Boschetti, Elisa; Ramazzotti, Giulia; Manzoli, Lucia; Ratti, Stefano; Vairo, Filippo Pinto E.; Delatycki, Martin B.; Vaula, Giovanna; Cortelli, Pietro; Bugiani, Marianna; Spielmann, Malte; Giorgio, Elisa Share Save
TAD boundary deletion causes PITX2-related cardiac electrical and structural defects Baudic, Manon; Murata, Hiroshige; Bosada, Fernanda M.; Melo, Uira Souto; Aizawa, Takanori; Lindenbaum, Pierre; van der Maarel, Lieve E.; Guedon, Amaury; Baron, Estelle; Fremy, Enora; Foucal, Adrien; Ishikawa, Taisuke; Ushinohama, Hiroya; Jurgens, Sean J.; Choi, Seung Hoan; Kyndt, Florence; Le Scouarnec, Solena; Wakker, Vincent; Thollet, Aurelie; Rajalu, Annabelle; Takaki, Tadashi; Ohno, Seiko; Shimizu, Wataru; Horie, Minoru; Kimura, Takeshi; Ellinor, Patrick T.; Petit, Florence; Dulac, Yves; Bru, Paul; Boland, Anne; Deleuze, Jean-Francois; Redon, Richard; Le Marec, Herve; Le Tourneau, Thierry; Gourraud, Jean-Baptiste; Yoshida, Yoshinori; Makita, Naomasa; Vieyres, Claude; Makiyama, Takeru; Mundlos, Stephan; Christoffels, Vincent M.; Probst, Vincent; Schott, Jean-Jacques; Barc, Julien Share Save
AML with complex karyotype: extreme genomic complexity revealed by combined long-read sequencing and Hi-C technology Klever, Marius-Konstantin; Straeng, Eric; Hetzel, Sara; Jungnitsch, Julius; Dolnik, Anna; Schoepffin, Robert; Schrezenmeier, Jens-Florian; Schick, Felix; Blau, Olga; Westermann, Joerg; Ruecker, Frank G.; Xia, Zuyao; Doehner, Konstanze; Schrezenmeier, Hubert; Spielmann, Malte; Meissner, Alexander; Melo, Uira Souto; Mundlos, Stefan; Bullinger, Lars Share Save
Enhancer hijacking at the ARHGAP36 locus is associated with connective tissue to bone transformation (vol 4, 6301, 2023) Melo, Uira Souto; Jatzlau, Jerome; Prada-Medina, Cesar A.; Flex, Elisabetta; Hartmann, Sunhild; Ali, Salaheddine; Schoepflin, Robert; Bernardini, Laura; Ciolfi, Andrea; Moeinzadeh, M-Hossein; Klever, Marius-Konstantin; Altay, Aybuge; Vallecillo-Garcia, Pedro; Carpentieri, Giovanna; Delledonne, Massimo; Ort, Melanie-Jasmin; Schwestka, Marko; Ferrero, Giovanni Battista; Tartaglia, Marco; Brusco, Alfredo; Gossen, Manfred; Strunk, Dirk; Geissler, Sven; Mundlos, Stefan; Stricker, Sigmar; Knaus, Petra; Giorgio, Elisa; Spielmann, Malte Share Save
A complex structural variant near SOX3 causes X-linked split-hand/foot malformation de Boer, Elke; Marcelis, Carlo; Neveling, Kornelia; van Beusekom, Ellen; Hoischen, Alexander; Klein, Willemijn M.; de Leeuw, Nicole; Mantere, Tuomo; Melo, Uira S.; van Reeuwijk, Jeroen; Smeets, Dominique; Spielmann, Malte; Kleefstra, Tjitske; van Bokhoven, Hans; Vissers, Lisenka E. L. M. Share Save
Enhancer hijacking at the ARHGAP36 locus is associated with connective tissue to bone transformation Melo, Uira Souto; Jatzlau, Jerome; Prada-Medina, Cesar A.; Flex, Elisabetta; Hartmann, Sunhild; Ali, Salaheddine; Schoepflin, Robert; Bernardini, Laura; Ciolfi, Andrea; Moeinzadeh, M-Hossein; Klever, Marius-Konstantin; Altay, Aybuge; Vallecillo-Garcia, Pedro; Carpentieri, Giovanna; Delledonne, Massimo; Ort, Melanie-Jasmin; Schwestka, Marko; Ferrero, Giovanni Battista; Tartaglia, Marco; Brusco, Alfredo; Gossen, Manfred; Strunk, Dirk; Geissler, Sven; Mundlos, Stefan; Stricker, Sigmar; Knaus, Petra; Giorgio, Elisa; Spielmann, Malte Share Save
Integration of Hi-C with short and long-read genome sequencing reveals the structure of germline rearranged genomes Schoepflin, Robert; Melo, Uira Souto; Moeinzadeh, Hossein; Heller, David; Laupert, Verena; Hertzberg, Jakob; Holtgrewe, Manuel; Alavi, Nico; Klever, Marius-Konstantin; Jungnitsch, Julius; Comak, Emel; Tuerkmen, Seval; Horn, Denise; Duffourd, Yannis; Faivre, Laurence; Callier, Patrick; Sanlaville, Damien; Zuffardi, Orsetta; Tenconi, Romano; Kurtas, Nehir Edibe; Giglio, Sabrina; Prager, Bettina; Latos-Bielenska, Anna; Vogel, Ida; Bugge, Merete; Tommerup, Niels; Spielmann, Malte; Vitobello, Antonio; Kalscheuer, Vera M.; Vingron, Martin; Mundlos, Stefan Share Save
Position effects at the FGF8 locus are associated with femoral hypoplasia Socha, Magdalena; Sowinska-Seidler, Anna; Melo, Uira Souto; Kragesteen, Bjort K.; Franke, Martin; Heinrich, Verena; Schopflin, Robert; Nagel, Inga; Gruchy, Nicolas; Mundlos, Stefan; Sreenivasan, Varun K. A.; Lopez, Cristina; Vingron, Martin; Bukowska-Olech, Ewelina; Spielmann, Malte; Jamsheer, Aleksander Share Save
Complete lung agenesis caused by complex genomic rearrangements with neo-TAD formation at the SHH locus Melo, Uira Souto; Piard, Juliette; Fischer-Zirnsak, Bjorn; Klever, Marius-Konstantin; Schopflin, Robert; Mensah, Martin Atta; Holtgrewe, Manuel; Arbez-Gindre, Francine; Martin, Alain; Guigue, Virginie; Gaillard, Dominique; Landais, Emilie; Roze, Virginie; Kremer, Valerie; Ramanah, Rajeev; Cabrol, Christelle; Harms, Frederike L.; Kornak, Uwe; Spielmann, Malte; Mundlos, Stefan; Van Maldergem, Lionel Share Save
Biallelic UBE4A loss-of-function variants cause intellectual disability and global developmental delay Melo, Uira Souto; Bonner, Devon; Kent Lloyd, Kevin C.; Moshiri, Ala; Willis, Brandon; Lanoue, Louise; Bower, Lynette; Leonard, Brian C.; Martins, Davi Jardim; Gomes, Fernando; de Souza Leite, Felipe; Oliveira, Danyllo; Kitajima, Joao Paulo; Monteiro, Fabiola P.; Zatz, Mayana; Menck, Carlos Frederico Martins; Wheeler, Matthew T.; Bernstein, Jonathan A.; Dumas, Kevin; Spiteri, Elizabeth; Di Donato, Nataliya; Jahn, Arne; Hashem, Mais; Alsaif, Hessa S.; Chedrawi, Aziza; Alkuraya, Fowzan S.; Kok, Fernando; Byers, Heather M. Share Save
Diagnostic Yield of Whole Genome Sequencing After Nondiagnostic Exome Sequencing or Gene Panel in Developmental and Epileptic Encephalopathies Palmer, Elizabeth Emma; Sachdev, Rani; Macintosh, Rebecca; Melo, Uira Souto; Mundlos, Stefan; Righetti, Sarah; Kandula, Tejaswi; Minoche, Andre E.; Puttick, Clare; Gayevskiy, Velimir; Hesson, Luke; Idrisoglu, Senel; Shoubridge, Cheryl; Thai, Monica Hong Ngoc; Davis, Ryan L.; Drew, Alexander P.; Sampaio, Hugo; Andrews, Peter Ian; Lawson, John; Cardamone, Michael; Mowat, David; Colley, Alison; Kummerfeld, Sarah; Dinger, Marcel E.; Cowley, Mark J.; Roscioli, Tony; Bye, Ann; Kirk, Edwin Share Save
Structural Variants Create New Topological-Associated Domains and Ectopic Retinal Enhancer-Gene Contact in Dominant Retinitis Pigmentosa de Bruijn, Suzanne E.; Fiorentino, Alessia; Ottaviani, Daniele; Fanucchi, Stephanie; Melo, Uira S.; Corral-Serrano, Julio C.; Mulders, Timo; Georgiou, Michalis; Rivolta, Carlo; Pontikos, Nikolas; Arno, Gavin; Roberts, Lisa; Greenberg, Jacquie; Albert, Silvia; Gilissen, Christian; Aben, Marco; Rebello, George; Mead, Simon; Raymond, F. Lucy; Corominas, Jordi; Smith, Claire E. L.; Kremer, Hannie; Downes, Susan; Black, Graeme C.; Webster, Andrew R.; Inglehearn, Chris F.; van den Born, L. Ingeborgh; Koenekoop, Robert K.; Michaelides, Michel; Ramesar, Raj S.; Hoyng, Carel B.; Mundlos, Stefan; Mhlanga, Musa M.; Cremers, Frans P. M.; Cheetham, Michael E.; Roosing, Susanne; Hardcastle, Alison J. Share Save
Hi-C Identifies Complex Genomic Rearrangements and TAD-Shuffling in Developmental Diseases Melo, Uira Souto; Schoepflin, Robert; Acuna-Hidalgo, Rocio; Mensah, Martin Atta; Fischer-Zirnsak, Bjoern; Holtgrewe, Manuel; Klever, Marius-Konstantin; Tuerkmen, Seval; Heinrich, Verena; Pluym, Ilina Datkhaeva; Matoso, Eunice; de Sousa, Sergio Bernardo; Louro, Pedro; Huelsemann, Wiebke; Cohen, Monika; Dufke, Andreas; Latos-Bielenska, Anna; Vingron, Martin; Kalscheuer, Vera; Quintero-Rivera, Fabiola; Spielmann, Malte; Mundlos, Stefan Share Save
Different gene expression profiles in iPSC-derived motor neurons from ALS8 patients with variable clinical courses suggest mitigating pathways for neurodegeneration Oliveira, Danyllo; Morales-Vicente, David A.; Amaral, Murilo S.; Luz, Livia; Sertie, Andrea L.; Leite, Felipe S.; Navarro, Claudia; Kaid, Carolini; Esposito, Joyce; Goulart, Ernesto; Caires, Luiz; Alves, Luciana M.; Melo, Uira S.; Figueiredo, Thalita; Mitne-Neto, Miguel; Okamoto, Oswaldo K.; Verjovski-Almeida, Sergio; Zatz, Mayana Share Save
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