Selected Publications

Rademacher, N, Kunde, SA, Kalscheuer, VM, and Shoichet, SA. Synaptic MAGUK multimer formation is mediated by PDZ domains and promoted by ligand binding. Chem Biol. 2013; 20(8), 1044-54.

Kunde, SA, Rademacher, N, Tzschach, A, Wiedersberg, E, Ullmann, R, Kalscheuer, VM, and Shoichet, SA. Characterisation of de novo MAPK10/JNK3 truncation mutations associated with cognitive disorders in two unrelated patients. Hum Genet. 2013; 132(4), 461-471.

Schmeisser MJ*, Ey E*, Wegener S*, Bockmann J, Stempel AV, Kuebler A, Janssen AL, Udvardi PT, Shiban E, Spilker C, Balschun D, Skryabin BV, Dieck St, Smalla KH, Montag D, Leblond CS, Faure P, Torquet N, Le Sourd AM, Toro R, Grabrucker AM, Shoichet SA, Schmitz D, Kreutz MR, Bourgeron T, Gundelfinger ED, Boeckers TM. Autistic-like behaviours and hyperactivity in mice lacking ProSAP1/Shank2. Nature 2012; 486(7402): 256-60.*equal contribution

Lesch, K.P., Selch, S., Renner, T.J., Jacob, C., Nguyen, T.T.,  Romanos, M., Walitza, S., Shoichet, S., Dempfle, A.,  Heine, M., Boreatti-Hümmer, A., Romanos, J., Gross-Lesch, S., Zerlaut, H. Allolio, B. Fassnacht, M., Wultsch, Schäfer, T.H., Warnke, A. Reif, A. Ropers, H.H., Ullmann, R. (2011) Genome-wide copy number variation analysis in attention deficit/hyperactivity disorder: association with neuropeptide Y gene dosage in an extended pedigree. Mol Psychiatry 16(5) 491-503.

Shoichet, S.A*., Waibel, S*., Endruhn, S., Sperfeld, A.D., Vorwerk, B., Muller, I., Erdogan, F., Ludolph, A.C., Ropers, H.H., and Ullmann, R. (2009) Identification of candidate genes for sporadic amyotrophic lateral sclerosis by array comparative genomic hybridization. Amyotroph Lateral Scler. 10(3),162-9
*Equal contributors

Kalscheuer, V.M., FitzPatrick, D., Tommerup, N., Bugge, M., Niebuhr, E., Neumann, L.M., Tzschach, A., Shoichet, S.A., Menzel, C., Erdogan, F., Arkesteijn, G., Ropers, H.H., Ullmann, R. (2007)
Mutations in autism susceptibility candidate 2 (AUTS2) in patients with mental retardation. Hum Genet. 121(3-4), 501-9.

Budny, B., Chen, W., Omran, H., Fliegauf, M., Tzschach, A., Wisniewska, M., Jensen, L.R., Raynaud, M., Shoichet, S.A., Badura, M., Lenzner, S., Latos-Bielenska, A., Ropers, H.H. (2006) A novel X-linked recessive mental retardation syndrome comprising macrocephaly and ciliary dysfunction is allelic to oral-facial-digital type I syndrome. Hum Genet. 120(2), 171-8. 

Shoichet, S.A. (2006) Ethical aspects of the identification of 'intelligence genes': a view from inside the laboratory. Dimensionen der Person: Genom und Gehirn, Mentis Verlag GmbH, Paderborn, 269-278.

Shoichet, S.A., Duprez, L., Hagens, O., Waetzig, V., Menzel, C., Herdegen, T., Schweiger, S., Dan, B., Vamos, E., Ropers, H.H., Kalscheuer, V.M. (2006) Truncation of the CNS-expressed JNK3 in a patient with a severe developmental epileptic encephalopathy. Hum Genet. 118(5), 559-67.

Shoichet, S.A., Kunde, S.A., Viertel, P., Schell-Apacik, C., von Voss, H., Tommerup, N., Ropers, H.H., Kalscheuer, V.M. (2005) Haploinsufficiency of novel FOXG1B variants in a patient with severe mental retardation, brain malformations and microcephaly. Hum Genet. 117(6), 536-44.

Shoichet, S.A., Hoffmann, K., Menzel, C., Trautmann, U., Moser, B., Hoeltzenbein, M., Echenne, B., Partington, M., van Bokhoven, H., Moraine, C., Fryns, J.P., Chelly, J., Rott, H.D., Ropers, H.H., and Kalscheuer, V.M. (2003) Mutations in the ZNF41 gene are associated with cognitive deficits: identification of a new candidate for X-linked mental retardation. Am. J. Hum. Genet. 73(6), 1341-54.

Kalscheuer, V.M., Freude, K., … Shoichet, S., .... Hamel, B.C.J., Schweiger, S., and Ropers, H.H. (2003) Mutations in the polyglutamine-binding protein 1 gene cause X-linked mental retardation. Nature Genetics 35(4), 313-315.

Shoichet, S.A., Bäumer, A.T., Stamenkovic, D., Sauer, H., Pfeiffer, A.F.H., Kahn, R.C., Müller-Wieland, D., Richter, C., and Ristow, R. (2002) Frataxin promotes antioxidant defense in a thiol-dependent manner diminishing malignant transformation. Hum. Mol.Gen  11(7), 815-821.

Malik, T.H., Shoichet, S.A., Latham, P., Kroll, T.G., Peters, L.L., and Shivdasani, R.A. (2001) Transcriptional repression and developmental functions of the atypical vertebrate GATA protein TRPS1. The EMBO Journal 20(7), 1715-1725.

Shoichet, S.A., Malik, T.H., Rothman, J.H. and Shivdasani, R.A. (2000) Action of the C.elegans GATA factor END-1 in Xenopus suggests that similar mechanisms initiate endoderm development in ecdysozoa and vertebrates. Proc. Natl. Acad. Sci. USA  97(8), 4076-4081.

Lee, Y.J., Swencki, B., Shoichet, S., and Shivdasani, R.A. (1999) A possible role for the high mobility group box transcription factor Tcf-4 in vertebrate gut epithelial cell differentiation. J. Biol. Chem. 274, 1566-1572.