Publications

Journal Article

Ehmke, N.; Graul-Neumann, L.; Smorag, L.; Koenig, R.; Segebrecht, L.; Magoulas, P.; Scaglia, F.; Kilic, E.; Hennig, A. F.; Adolphs, N. et al.; Saha, N.; Fauler, B.; Kalscheuer, V. M.; Hennig, F.; Altmüller, J.; Netzer, C.; Thiele, H.; Nürnberg, P.; Yigit, G.; Jäger, M.; Hecht, J.; Krüger, U.; Mielke, T.; Krawitz, P. M.; Horn, D.; Schuelke, M.; Mundlos, S.; Bacino, C. A.; Bonnen, P. E.; Wollnik, B.; Fischer-Zirnsak, B.; Kornak, U.: De Novo Mutations in SLC25A24 Cause a Craniosynostosis Syndrome with Hypertrichosis, Progeroid Appearance, and Mitochondrial Dysfunction. The American Journal of Human Genetics 101 (5), pp. 833 - 843 (2017)

MPG.PuRe

Journal Article

Niturad, C. E.; Lev, D.; Kalscheuer, V. M.; Charzewska, A.; Schubert, J.; Lerman-Sagie, T.; Kroes, H. Y.; Oegema, R.; Traverso, M.; Specchio, N. et al.; Lassota, M.; Chelly, J.; Bennett-Back, O.; Carmi, N.; Koffler-Brill, T.; Iacomino, M.; Trivisano, M.; Capovilla, G.; Striano, P.; Nawara, M.; Rzonca, S.; Fischer, U.; Bienek, M.; Jensen, C.; Hu, H.; Thiele, H.; Altmüller, J.; Krause, R.; May, P.; Becker, F.; Euro, E. C.; Balling, R.; Biskup, S.; Haas, S. A.; Nürnberg, P.; van Gassen, K. L. I.; Lerche, H.; Zara, F.; Maljevic, S.; Leshinsky-Silver, E.: Rare GABRA3 variants are associated with epileptic seizures, encephalopathy and dysmorphic features. Brain 140 (11), pp. 2879 - 2894 (2017)

MPG.PuRe

Journal Article

Carroll, R.; Kumar, R.; Shaw, M.; Slee, J.; Kalscheuer, V.; Corbett, M. A.; Gecz, J.: Variant in the X-chromosome spliceosomal gene GPKOW causes male-lethal microcephaly with intrauterine growth restriction. European journal of human genetics 25 (9), pp. 1078 - 1082 (2017)

MPG.PuRe

Journal Article

Alber, M.; Kalscheuer, V. M.; Marco, E.; Sherr, E.; Lesca, G.; Till, M.; Gradek, G.; Wiesener, A.; Korenke, C.; Mercier, S. et al.; Becker, F.; Yamamoto, T.; Scherer, S. W.; Marshall, C. R.; Walker, S.; Dutta, U. R.; Dalal, A. B.; Suckow, V.; Jamali, P.; Kahrizi, K.; Najmabadi, H.; Minassian, B. A.: ARHGEF9 disease: Phenotype clarification and genotype-phenotype correlation. Neurology Genetics 3 (3), e148 (2017)

MPG.PuRe

Journal Article

Skopkova, M.; Hennig, F.; Shin, B. S.; Turner, C. E.; Stanikova, D.; Brennerova, K.; Stanik, J.; Fischer, U.; Henden, L.; Müller, U. et al.; Steinberger, D.; Leshinsky-Silver, E.; Bottani, A.; Kurdiova, T.; Ukropec, J.; Nyitrayova, O.; Kolnikova, M.; Klimes, I.; Borck, G.; Bahlo, M.; Haas, S. A.; Kim, J. R.; Lotspeich-Cole, L. E.; Gasperikova, D.; Dever, T. E.; Kalscheuer, V. M.: EIF2S3 Mutations Associated with Severe X-Linked Intellectual Disability Syndrome MEHMO. Human Mutation 38 (4), pp. 409 - 425 (2017)

MPG.PuRe

Journal Article

van der Werf, I. M.; Van Dijck, A.; Reyniers, E.; Helsmoortel, C.; Kumar, A. A.; Kalscheuer, V. M.; de Brouwer, A. P.; Kleefstra, T.; van Bokhoven, H.; Mortier, G. et al.; Janssens, S.; Vandeweyer, G.; Kooy, R. F.: Mutations in two large pedigrees highlight the role of ZNF711 in X-linked intellectual disability. Gene 605, pp. 92 - 98 (2017)

MPG.PuRe

Journal Article

Zapata, J.; Moretto, E.; Hannan, S.; Murru, L.; Longatti, A.; Mazza, D.; Benedetti, L.; Fossati, M.; Heise, C.; Ponzoni, L. et al.; Valnegri, P.; Braida, D.; Sala, M.; Francolini, M.; Hildebrand, J.; Kalscheuer, V.; Fanelli, F.; Sala, C.; Bettler, B.; Bassani, S.; Smart, T. G.; Passafaro, M.: Epilepsy and intellectual disability linked protein Shrm4 interaction with GABABRs shapes inhibitory neurotransmission. Nature Communications 8, 8:14536 (2017)

MPG.PuRe