Publications

Journal Article (5)

1.
Journal Article
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)
2.
Journal Article
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)
3.
Journal Article
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)
4.
Journal Article
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)
5.
Journal Article
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, pp. 661 - 668 (2021)

Review Article (1)

6.
Review Article
Glaser, J.; Mundlos, S.: 3D or Not 3D: Shaping the Genome during Development. (2021)
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