Publications

Kornak, U.; Saha, N.; Keren, B.; Neumann, A.; Taylor Tavares, A. L.; Piard, J.; Kopp, J.; Rodrigues Alves, J. G.; de los Santos, M. R.; El Choubassi, N. et al.; Ehmke, N.; Jäger, M.; Spielmann, M.; Pantel, J. T.; Lejeune, E.; Fauler, B.; Mielke, T.; Hecht, J.; Meierhofer, D.; Strom, T. M.; Laugel, V.; Brice, A.; Mundlos, S.; Bertoli-Avella, A.; Bauer, P.; Heyd, F.; Boute, O.; Dupont, J.; Depienne, C.; Van Maldergem, L.; Fischer-Zirnsak, B.: Alternative splicing of BUD13 determines the severity of a developmental disorder with lipodystrophy and progeroid features. GENETICS IN MEDICINE 24 (9), pp. 1927 - 1940 (2022)

Boschann, F.; Cogulu, M. Ö.; Pehlivan, D.; Balachandran, S.; Vallecillo-Garcia, P.; Grochowski, C. M.; Hansmeier, N. R.; Coban Akdemir, Z. H.; Prada-Medina, C. A.; Aykut, A. et al.; Fischer-Zirnsak, B.; Badura, S.; Durmaz, B.; Ozkinay, F.; Hägerling, R.; Posey, J. E.; Stricker, S.; Gillessen-Kaesbach, G.; Spielmann, M.; Horn, D.; Brockmann, K.; Lupski, J. R.; Kornak, U.; Schmidt, J.: Biallelic variants in ADAMTS15 cause a novel form of distal arthrogryposis. GENETICS IN MEDICINE, S1098-3600(22)00849-8 (2022)

Berghöfer, J.; Khaveh, N.; Mundlos, S.; Metzger, J.: Simultaneous testing of rule- and model-based approaches for runs of homozygosity detection opens up a window into genomic footprints of selection in pigs. BMC Genomics 23, 564 (2022)

Heck, R.; Fischer-Zirnsak, B.; Photiadis, J.; Horn, D.; Gehle, P.: Different ascending aortic phenotypes with similar mutations in two patients with Loeys-Dietz-Syndrome type 2. Interactive CardioVascular and Thoracic Surgery 35 (1), ivac159 (2022)

Real, F. M.; Lao-Pérez, M.; Burgos, M.; Mundlos, S.; Lupiáñez, D. G.; Jiménez, R.; Barrionuevo, F. J.: Cell adhesion and immune response, two main functions altered in the transcriptome of seasonally regressed testes of two mammalian species. Journal of Experimental Zoology Part B-Molecular and Developmental Evolution 2022, 14 (2022)

Smajić, S.; Prada-Medina, C. A.; Landoulsi, Z.; Ghelfi, J.; Delcambre, S.; Dietrich, C.; Henck, J.; Balachandran, S.; Pachchek, S.; Morris, C. M. et al.; Antony, P.; Timmermann, B.; Sauer, S.; Pereira, S. L.; Schwamborn, J. C.; May, P.; Grünewald, A.; Spielmann, M.: Single-cell sequencing of human midbrain reveals glial activation and a Parkinson-specific neuronal state. Brain 145 (3), awab446, pp. 964 - 978 (2022)

Hansmeier, N. R.; Büschlen, I. S.; Behncke, R. Y.; Ulferts, S.; Bisoendial, R.; Hägerling, R.: 3D Visualization of Human Blood Vascular Networks Using Single-Domain Antibodies Directed against Endothelial Cell-Selective Adhesion Molecule (ESAM). International Journal of Molecular Sciences 23 (8), 4369 (2022)

Hertzberg, J.; Mundlos, S.; Vingron, M.; Gallone, G.: TADA – a Machine Learning Tool for Functional Annotation based Prioritisation of Putative Pathogenic CNVs. Genome Biology 23, 67 (2022)

Lybaek, H.; Robson, M.; de Leeuw, N.; Hehir-Kwa, J. Y.; Jeffries, A.; Haukanes, B. I.; Berland, S.; de Bruijn, D.; Mundlos, S.; Spielmann, M. et al.; Houge, G.: LRFN5 locus structure is associated with autism and influenced by the sex of the individual and locus conversions. Autism Research 15 (3), pp. 421 - 433 (2022)

Boschann, F.; Moreno, D. A.; Mensah, M. A.; Sczakiel, H. L.; Skipalova , K.; Holtgrewe , M.; Mundlos, S.; Fischer-Zirnsak, B.: Xq27.1 palindrome mediated interchromosomal insertion likely causes familial congenital bilateral laryngeal abductor paralysis (Plott syndrome). Journal of Human Genetics 67, pp. 405 - 410 (2022)

Sivkina, A. L.; Karlova, M. G.; Valieva, M. E.; McCullough, L. L.; Formosa, T.; Shaytan, A. K.; Feofanov, A. V.; Kirpichnikov, M. P.; Sokolova, O. S.; Studitsky, V. M.: Electron microscopy analysis of ATP-independent nucleosome unfolding by FACT. Communications Biology 5 (1), 2 (2022)

Gjaltema, R.; Schwämmle, T.; Kautz, P.; Robson, M.; Schöpflin, R.; Lustig, L. R.; Brandenburg, L.; Dunkel, I.; Vechiatto, C.; Ntini, E. et al.; Mutzel, V.; Schmiedel, V.; Marsico, A.; Mundlos, S.; Schulz, E. G.: Distal and proximal cis-regulatory elements sense X chromosome dosage and developmental state at the Xist locus. Molecular Cell 82, pp. 1 - 19 (2022)

Halecker, S.; Metzger, J.; Strube, C.; Krabben, L.; Kaufer, B.; Denner, J.: Virological and Parasitological Characterization of Mini-LEWE Minipigs Using Improved Screening Methods and an Overview of Data on Various Minipig Breeds. Microorganisms 9 (12), (12):2617 (2021)

Hung, K. L.; Yost, K. E.; Xie, L.; Shi, Q.; Helmsauer, K.; Luebeck, J.; Schöpflin, R.; Lange, J. T.; Chamorro González, R.; Weiser, N. E. et al.; Chen, C.; Valieva, M.; Wong, I. T.-L.; Wu, S.; Dehkordi, S. R.; Duffy, C. V.; Kraft, K.; Tang, J.; Belk, J. A.; Rose, J. C.; Corces, M. R.; Granja, J. M.; Li, R.; Rajkumar, U.; Friedlein, J.; Bagchi, A.; Satpathy, A. T.; Tjian, R.; Mundlos, S.; Bafna, V.; Henssen, A. G.; Mischel, P. S.; Liu, Z.; Chang, H. Y.: ecDNA hubs drive cooperative intermolecular oncogene expression. Nature 600, pp. 731 - 736 (2021)

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, 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)

Voisin, N.; Schnur, R. E.; Douzgou , S.; Hiatt, S. M.; Rustad, C. F.; Brown, N. J.; Earl, D. L.; Keren, B.; Levchenko, O.; Geuer, S. et al.; Verheyen, S.; Johnson , D.; Zarate, Y. A.; Hančárová, M.; Amor, D. J.; Bebin, E. M.; Blatterer, J.; Brusco, A.; Cappuccio, G.; Charrow, J.; Chatron, N.; Cooper, G. M.; Courtin, T.; Dadali, E.; Delafontaine, J.; Del Giudice, E.; Doco, M.; Douglas, G.; Eisenkölbl, A.; Funari, T.; Giannuzzi , G.; Gruber-Sedlmayr, U.; Guex, N.; Heron, D.; Holla, Ø. L.; Hurst, A. C. E.; Juusola, J.; Kronn, D.; Lavrov, A.; Lee, C.; Lorrain, S.; Merckoll, E.; Mikhaleva, A.; Norman, J.; Pradervand, S.; Prchalová, D.; Rhodes, L.; Sanders , V. R.; Sedláček, Z.; Seebacher , H. A.; Sellars, E. A.; Sirchia, F.; Takenouchi, T.; Tanaka, A. J.; Taska-Tench, H.; Tønne, E.; Tveten, K.; Vitiello, G.; Vlčková , M.; Uehara, T.; Nava, C.; Yalcin, B.; Kosaki, K.; Donnai, D.; Mundlos, S.; Brunetti-Pierri, N.; Chung, W. K.; Reymond, A.: Variants in the degron of AFF3 are associated with intellectual disability, mesomelic dysplasia, horseshoe kidney, and epileptic encephalopathy. The American Journal of Human Genetics 108 (5), pp. 857 - 873 (2021)

Knudsen, T. B.; Spielmann, M.; Megason, S. G.; Faustman, E. M.: Single-cell profiling for advancing birth defects research and prevention. Birth Defects Research 113 (7), pp. 546 - 559 (2021)

Allou, L.; Balzano, S.; Magg, A.; Quinodoz, M.; Royer-Bertrand, B.; Schöpflin, R.; Chan, W.-L.; Speck-Martins, C. E.; Rocha Carvalho, D.; Farage, L. et al.; Marques Lourenço, C.; Albuquerque, R.; Rajagopal, S.; Nampoothiri, S.; Campos-Xavier, B.; Chiesa, C.; Niel-Bütschi, F.; Wittler, L.; Timmermann, B.; Spielmann, M.; Robson, M.; Ringel, A.; Heinrich, V.; Cova, G.; Andrey , G.; Prada-Medina, C. A.; Pescini-Gobert, R.; Unger, S.; Bonafé, L.; Grote, P.; Rivolta, C.; Mundlos, S.; Superti-Furga, A.: Non-coding deletions identify Maenli lncRNA as a limb-specific En1 regulator. Nature (2021)

de Los Santos, M. R.; Rivalan, M.; David, F. S.; Stumpf, A.; Pitsch, J.; Tsortouktzidis, D.; Moreno Velasquez, L.; Voigt, A.; Schilling, K.; Mattei, D. et al.; Long, M.; Vogt, G.; Knaus, A.; Fischer-Zirnsak, B.; Wittler, L.; Timmermann, B.; Robinson , P. N.; Horn, D.; Mundlos, S.; Kornak, U.; Becker, A. J.; Schmitz , D.; Winter, Y.; Krawitz, P. M.: A CRISPR-Cas9-engineered mouse model for GPI-anchor deficiency mirrors human phenotypes and exhibits hippocampal synaptic dysfunctions. Proceedings of the National Academy of Sciences of the United States of America 118 (2), e2014481118 (2021)