Publications

The following publications were published exclusively under the affiliation of the Max Planck Society. For publications by the principal investigator outside of the Max Planck Society, see the links on the lower left.

Journal Article (4)

Journal Article

Courraud, J.; Engel, C.; Quartier, A.; Drouot, N.; Houessou, U.; Plassard, D.; Sorlin, A.; Brischoux-Boucher, E.; Gouy, E.; Van Maldergem, L. et al.; Rossi, M.; Lesca, G.; Edery, P.; Putoux, A.; Bilan, F.; Gilbert-Dussardier, B.; Atallah, I.; Kalscheuer, V. M.; Mandel, J.-L.; Piton, A.: Molecular consequences of PQBP1 deficiency, involved in the X-linked Renpenning syndrome. Molecular Psychiatry 29 (2), pp. 287 - 296 (2023)

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Journal Article

Huang, X.; Henck, J.; Qiu, C.; Sreenivasan, V. K. A.; Balachandran, S.; Amarie, O. V.; de Angelis, M. H.; Behncke, R. Y.; Chan, W.-L.; Despang, A. et al.; Dickel, D. E.; Duran, M.; Feuchtinger, A.; Fuchs, H.; Gailus-Durner, V.; Haag, N.; Hägerling, R.; Hansmeier, N.; Hennig, F.; Marshall, C.; Rajderkar, S.; Ringel, A.; Robson, M. I.; Saunders, L. M.; da Silva-Buttkus, P.; Spielmann, N.; Srivatsan, S. R.; Ulferts, S.; Wittler, L.; Zhu, Y.; Kalscheuer, V. M.; Ibrahim, D. M.; Kurth, I.; Kornak, U.; Visel, A.; Pennacchio, L. A.; Beier, D. R.; Trapnell, C.; Cao, J.; Shendure, J.; Spielmann, M.: Single-cell, whole-embryo phenotyping of mammalian developmental disorders. Nature 623 (7988), pp. 772 - 781 (2023)

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Journal Article

Mensah, M. A.; Niskanen, H.; Magalhães, A. P.; Basu, S.; Kircher, M.; Sczakiel, H. L.; Reiter, A. M. V.; Elsner, J.; Meinecke, P.; Biskup, S. et al.; Chung, B. H. Y.; Dombrowsky, G.; Eckmann-Scholz, C.; Hitz, M. P.; Hoischen, A.; Holterhus, P.-M.; Hülsemann, W.; Kahrizi, K.; Kalscheuer, V. M.; Kan, A.; Krumbiegel, M.; Kurth, I.; Leubner, J.; Longardt, A. C.; Moritz, J. D.; Najmabadi, H.; Skipalova, K.; Snijders Blok, L.; Tzschach, A.; Wiedersberg, E.; Zenker, M.; Garcia-Cabau, C.; Buschow, R.; Salvatella, X.; Kraushar, M. L.; Mundlos, S.; Caliebe, A.; Spielmann, M.; Horn, D.; Hnisz, D.: Aberrant phase separation and nucleolar dysfunction in rare genetic diseases. Nature 614 (7948), pp. 564 - 571 (2023)

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Journal Article

Palmer, E. E.; Pusch, M.; Picollo, A.; Forwood, C.; Nguyen, M. H.; Suckow, V.; Gibbons, J.; Hoff, A.; Sigfrid, L.; Megarbane, A. et al.; Nizon, M.; Cogné, B.; Beneteau, C.; Alkuraya, F. S.; Chedrawi, A.; Hashem, M. O.; Stamberger, H.; Weckhuysen, S.; Vanlander, A.; Ceulemans, B.; Rajagopalan, S.; Nunn, K.; Arpin, S.; Raynaud, M.; Motter, C. S.; Ward-Melver, C.; Janssens, K.; Meuwissen, M.; Beysen, D. ....; Kalscheuer, V. M.: Functional and clinical studies reveal pathophysiological complexity of CLCN4-related neurodevelopmental condition. Molecular Psychiatry 28 (2), pp. 668 - 697 (2023)

MPG.PuRe

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