Publikationen von 0000-0002-7681-2844
(ORCID: 0000-0002-7681-2844)

Brock, Stefanie , Vanderhasselt, Tim , Vermaning, Sietske, Keymolen, Kathelijn , Régal, Luc , Romaniello, Romina , Wieczorek, Dagmar , Storm, Tim Matthias, Schaeferhoff, Karin, Hehr, Ute, Kuechler, Alma, Krägeloh-Mann, Ingeborg, Haack, Tobias B., Kasteleijn, Esmee, Schot, Rachel, Mancini, Grazia Maria Simonetta, Webster, Richard, Mohammad, Shekeeb , Leventer, Richard J., Mirzaa, Ghayda, Dobyns, William B. , Bahi-Buisson, Nadia, Meuwissen, Marije, Jansen, Anna C. und Stouffs, Katrien (2020) Defining the phenotypical spectrum associated with variants in TUBB2A. Journal of Medical Genetics 58 (1), S. 33-40. Volltext nicht vorhanden.

Twigg, Stephen R. F. , Hufnagel, Robert B., Miller, Kerry A., Zhou, Yan, McGowan, Simon J. , Taylor, John, Craft, Jude, Taylor, Jenny C., Santoro, Stephanie L., Huang, Taosheng, Hopkin, Robert J., Brady, Angela F., Clayton-Smith, Jill, Clericuzio, Carol L., Grange, Dorothy K., Groesser, Leopold, Hafner, Christian, Horn, Denise, Temple, I. Karen, Dobyns, William B. , Curry, Cynthia J., Jones, Marilyn C. und Wilkie, Andrew O. M. (2016) A Recurrent Mosaic Mutation in SMO , Encoding the Hedgehog Signal Transducer Smoothened, Is the Major Cause of Curry-Jones Syndrome. The American Journal of Human Genetics 98 (6), S. 1256-1265. Volltext nicht vorhanden.

Di Donato, N., Neuhann, T., Kahlert, A.-K., Klink, B., Hackmann, K., Neuhann, I., Weber, Bernhard H. F. , Schrock, Evelin, Dobyns, William B. , Bier, Andrea und Rump, Andreas (2016) Mutations in EXOSC2 are associated with a novel syndrome characterised by retinitis pigmentosa, progressive hearing loss, premature ageing, short stature, mild intellectual disability and distinctive gestalt. Journal of Medical Genetics 53 (6), S. 419-425. Volltext nicht vorhanden.

Cushion, Thomas D. , Dobyns, William B. , Mullins, Jonathan G. L. , Stoodley, Neil, Chung, Seo-Kyung , Fry, Andrew E., Hehr, Ute, Gunny, Roxana, Aylsworth, Arthur S., Prabhakar, Prab, Uyanik, Gökhan, Rankin, Julia, Rees, Mark I. und Pilz, Daniela T. (2013) Overlapping cortical malformations and mutations in TUBB2B and TUBA1A. Brain 136 (2), S. 536-548. Volltext nicht vorhanden.

Kortüm, Fanny, Das, Soma, Flindt, Max, Uyanik, Gökhan , make_name_string expected hash reference , make_name_string expected hash reference, make_name_string expected hash reference, make_name_string expected hash reference , make_name_string expected hash reference, make_name_string expected hash reference, make_name_string expected hash reference , make_name_string expected hash reference, make_name_string expected hash reference, make_name_string expected hash reference, make_name_string expected hash reference, make_name_string expected hash reference, make_name_string expected hash reference und make_name_string expected hash reference (2011) The core FOXG1 syndrome phenotype consists of postnatal microcephaly, severe mental retardation, absent language, dyskinesia, and corpus callosum hypogenesis. Journal of Medical Genetics 48, S. 396-406.

Cantagrel, Vincent , Lefeber, Dirk J., Ng, Bobby G., Guan, Ziqiang, Silhavy, Jennifer L., Bielas, Stephanie L. , Lehle, Ludwig, Hombauer, Hans , Adamowicz, Maciej, Swiezewska, Ewa, De Brouwer, Arjan P., Blümel, Peter, Sykut-Cegielska, Jolanta, Houliston, Scott, Swistun, Dominika, Ali, Bassam R. , Dobyns, William B. , Babovic-Vuksanovic, Dusica, van Bokhoven, Hans , Wevers, Ron A. , Raetz, Christian R.H., Freeze, Hudson H. , Morava, Éva, Al-Gazali, Lihadh und Gleeson, Joseph G. (2010) SRD5A3 Is Required for Converting Polyprenol to Dolichol and Is Mutated in a Congenital Glycosylation Disorder. Cell 142 (2), S. 203-217. Volltext nicht vorhanden.

Lacbawan, F., Solomon, B. D., Roessler, E., El-Jaick, K. , Domene, S., Velez, J. I. , Zhou, N., Hadley, D., Balog, J. Z., Long, R., Fryer, A., Smith, W., Omar, S., McLean, S. D., Clarkson, K., Lichty, A., Clegg, N. J., Delgado, M. R., Levey, E., Stashinko, E., Potocki, L., VanAllen, M. I., Clayton-Smith, J., Donnai, D., Bianchi, D. W., Juliusson, P. B., Njolstad, P. R., Brunner, H. G., Carey, J. C., Hehr, U., Musebeck, J., Wieacker, P. F., Postra, A., Hennekam, R. C. M., van den Boogaard, M.-J. H., van Haeringen, A., Paulussen, A., Herbergs, J., Schrander-Stumpel, C. T. R. M., Janecke, A. R. , Chitayat, D., Hahn, J., McDonald-McGinn, D. M., Zackai, E. H., Dobyns, W. B. und Muenke, M. (2009) Clinical spectrum of SIX3-associated mutations in holoprosencephaly: correlation between genotype, phenotype and function. Journal of Medical Genetics 46 (6), S. 389-398. Volltext nicht vorhanden.

Najm, Juliane, Horn, Denise, Wimplinger, Isabella, Golden, Jeffrey A, Chizhikov, Victor V, Sudi, Jyotsna, Christian, Susan L, Ullmann, Reinhard, Kuechler, Alma, Haas, Carola A, Flubacher, Armin, Charnas, Lawrence R, Uyanik, Gökhan, Frank, Ulrich, Klopocki, Eva , Dobyns, William B und Kutsche, Kerstin (2008) Mutations of CASK cause an X-linked brain malformation phenotype with microcephaly and hypoplasia of the brainstem and cerebellum. Nature Genetics 40 (9), S. 1065-1067. Volltext nicht vorhanden.