Publikationen von Sarah A. Shoichet

Kalscheuer, V. M.; FitzPatrick, D.; Tommerup, N.; Bugge, M.; Niebuhr, E.; Neumann, L. M.; Tzschach, A.; Shoichet, S. A.; Menzel, C.; Erdogan, F. et al.; Arkesteijn, G.; Ropers, H.-H.; Ullmann, R.: Mutations in Autism Susceptibility Candidate 2 (AUTS2) in patients with mental retardation. Human Genetics 121 (3-4), S. 501 - 509 (2007)

Budny, B.; Chen, W.; Omran, H.; Fliegauf, M.; Tzschach, A.; Wisniewska, M.; Jensen, L. R.; Raynaud, M.; Shoichet, S. A.; Badura, M. et al.; Lenzner, S.; Latos-Bielenska, A.; Ropers, H.-H.: A novel X-linked recessive mental retardation syndrome comprising macrocephaly and ciliary dysfunction is allelic to oral-facial-digital type I syndrome. Human Genetics 120 (2), S. 171 - 178 (2006)

Shoichet, S. A.; Duprez, L.; Hagens, O.; Waetzig, V.; Menzel, C.; Herdegen, T.; Schweiger, S.; Dan, B.; Vamos, E.; Ropers, H.-H. et al.; Kalscheuer, V. M.: Truncation of the CNS-expressed JNK3 in a patient with a severe developmental epileptic encephalopathy. Human Genetics 118 (5), S. 559 - 567 (2006)

Shoichet, S. A.; Kunde, S.-A.; Viertel, P.; Schell-Apacik, C.; von Voss, H.; Tommerup, N.; Ropers, H.-H.; Kalscheuer, V. M.: Haploinsufficiency of novel FOXG1B variants in a patient with severe mental retardation, brain malformations and microcephaly. Human Genetics 117 (6), S. 536 - 544 (2005)

Shoichet, S. A.; Hoffmann, K.; Menzel, C.; Trautmann, U.; Moser, B.; Hoeltzenbein, M.; Echenne, B.; van Bokhoven, H.; Moraine, C.; Fryns, J.-P. et al.; Chelly, J.; Rott, H.-D.; Ropers, H.-H.; Kalscheuer, V. M.: Mutations in the ZNF41 gene are associated with cognitive deficits: identification of a new candidate for X-linked mental retardation. American Journal of Human Genetics 73 (6), S. 1341 - 1354 (2003)

Shoichet, S. A.: Identification and characterisation of genes involved in cognitive function. Dissertation, Freie Universität Berlin, Berlin (2004)