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Institut für Humangenetik

Selected Publications of the Department

Sato, D., Lionel, A. C., Prasad, A., Pinto, D., Walker, S., O'Connor, I., Russell, C., Drmic, I. E., Hamdan, F. F., Michaud, J. L., Endris, V., Roeth, R., Leblond, C. S., Delorme, R., Huguet, G., Leboyer, M., Maria Rastam, M., Gillberg, C., Stavropoulos, D. J., Anagonostou, E., Weksberg, R., Fombonne, E., Zwaigenbaum, L., Fernandez, B. A., Roberts, W., Rappold, G. A., Marshall, C. R., Bourgeron, T., Szatmari, P., Scherer, S. W.:  SHANK1 deletion in males with Autism Spectrum Disorder. Am. J. Hum. Genet. In press, 2012.


Hammer, C., Cichon, S., Mühleisen, T. W., Haenisch, B., Degenhardt, F., Breuer, R., Witt, S., Strohmaier, J., Oruc, L., Rivas, F., Babadjanova, G., Grigoroiu-Serbanescu, M., Hauser, J., Röth, R., Rappold, G., Rietschel, M., Nöthen, M., Niesler, B.: Replication of functional serotonin receptor type 3A and B variants in bipolar affective disorder: A European multicenter study. Translat. Psychiatry. In press, 2012.


Hoyer, J., Ekici, A. B., Endele, S., Popp, B., Zweier, C., Wiesenerl, A., Wohlleber, E., Dufke, A., Petsch, C., Zweier, M., Göhring, I., Zink, A. M., Rappold, G., Schröck, E., Wieczorek, D., Rieß, O., Engels, H., Rauch, A., Reis, A.: Haploinsufficiency of ARID1B, a member of the SWI/SNF A chromatin remodeling complex, is a frequent cause of intellectual disability. Am. J. Hum. Genet. 90:565-572, 2012.


Berkel, S., Tang, W., Treviño, M., Vogt, M., Gass, P., Scherer, S. W., Sprengel, R., Schratt, G., Rappold, G. A.: SHANK2 variants associated with autism spectrum disorder impair neuronal morphogenesis and can be linked to physiological effects. Hum. Mol. Genet. 21:344-57, 2012.


Endris, V., Haussmann, L., Buss, E., Bacon, C., Bartsch, D., Rappold, G.: SrGAP3 interacts with Lamellipodin and inhibits Lamellipodin-dependent actin dynamics. J. Cell Science 124:3941-55, 2011.


Decker, E., Bender, S., Durand, C., Schneider, K. U., Rappold, G.: FGFR3 is a target of the homeobox transcription factor SHOX in limb development. Hum. Mol. Genet. 20:1524-1535, 2011.


Kilpatrick, L. A., Labus, J. S., Coveleskic, K., Jarcho, J. M., McRoberts, J. A., Rappold, G., Bueller, J. A., Suyenobu, B., Papp, J. C., Dandekar, S., Niesler, B., Mayer, E. A.: The HT3A gene polymorphism c.-42C>T influences amygdala responsiveness in female IBS patients and healthy controls. Gastroenterol. 140(7):1943-51, 2011.


Endele, S., Rosenberger, G., Geider, K., Popp, B., Tamer, C., Stefanova, I., Milh, M., Fritsch, A., Pientka, F. K., Kortüm, F., Hellenbroich, Y., Kalscheuer, V., Kohlhase, J., Moog, U., Rappold, G., Rauch, A., Ropers, H., von Spiczak, S., Tönnies, H., Villeneuve, N., Villard, L., Zabel, B., Zenker, M., Laube, B., Reis, A., Wieczorek, D., van Maldergem, L., Kutsche, K.: Mutations in GRIN2A and GRIN2B encoding regulatory subunits of NMDA receptors cause variable neurodevelopmental phenotypes. Nat. Genet., 42:1021-6, 2010.


Puskaric, S., Schmitteckert, S., Schneider, K., Mori, A., Bruneau, B., Gittenberger-de Groot, A., Blaschke, R. J., Steinbeisser, H., Rappold, G. A.: Shox2 mediates Tbx5 activity by regulating Bmp4 in the developing heart. Hum. Mol. Genet. 19:4625-33, 2010.


Marchini, A., Daeffler, L., Marttila, T., Schneider, K.U., Blaschke, R. J., Schnölzer, M., Rommelaere, J., Rappold, G.: Phosphorylation on Ser106 modulates the cellular functions of the SHOX homeodomain protein. J. Mol. Biol. 355:590-603, 2006.

 

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