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Gardner, Jennifer, Cushion, Thomas, Niotakis, Georgios, Olson, Heather, Grant, P., Scott, Richard, Stoodley, Neil, Cohen, Julie, Naidu, Sakkubai, Attie-Bitach, Tania, Bonnières, Maryse, Boutaud, Lucile, Encha-Razavi, Férechté, Palmer-Smith, Sheila, Mugalaasi, Hood, Mullins, Jonathan, Pilz, Daniela and Fry, Andrew ORCID: https://orcid.org/0000-0001-9778-6924 2018. Clinical and functional characterization of the recurrent TUBA1A p.(Arg2His) mutation. Brain Sciences 8 (8) , 145. 10.3390/brainsci8080145 |
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Anderson, Sarah, Kamath, Arveen, Pilz, Daniela and Morgan, Sian 2016. A rare example of germ-line chromothripsis resulting in large genomic imbalance. Clinical Dysmorphology 25 (2) , pp. 58-62. 10.1097/MCD.0000000000000113 |
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Rivière, Jean-Baptiste, van Bon, Bregje W. M., Hoischen, Alexander, Kholmanskikh, Stanislav S., O'Roak, Brian J., Gilissen, Christian, Gijsen, Sabine, Sullivan, Christopher T., Christian, Susan L., Abdul-Rahman, Omar A., Atkin, Joan F., Chassaing, Nicolas, Drouin-Garraud, Valerie, Fry, Andrew Evan ORCID: https://orcid.org/0000-0001-9778-6924, Fryns, Jean-Pierre, Gripp, Karen W., Kempers, Marlies, Kleefstra, Tjitske, Mancini, Grazia M. S., Nowaczyk, Malgorzata J. M., van Ravenswaaij-Arts, Conny M. A., Roscioli, Tony, Marble, Michael, Rosenfeld, Jill A., Siu, Victoria M., de Vries, Bert B. A., Shendure, Jay, Verloes, Alain, Veltman, Joris A., Brunner, Han G., Ross, M. Elizabeth, Pilz, Daniela T. and Dobyns, William B. 2012. De novo mutations in the actin genes ACTB and ACTG1 cause Baraitser-Winter syndrome [Letter]. Nature Genetics 44 (4) , pp. 440-444. 10.1038/ng.1091 |
Ostergaard, Pia, Simpson, Michael A., Connell, Fiona C., Steward, Colin G., Brice, Glen, Woollard, Wesley J., Dafou, Dimitra, Kilo, Tatjana, Smithson, Sarah, Lunt, Peter, Murday, Victoria A., Hodgson, Shirley, Keenan, Russell, Pilz, Daniela T., Martinez-Corral, Ines, Makinen, Taija, Mortimer, Peter S., Jeffery, Steve, Trembath, Richard C. and Mansour, Sahar 2011. Mutations in GATA2 cause primary lymphedema associated with a predisposition to acute myeloid leukemia (Emberger syndrome). Nature Genetics 43 (10) , pp. 929-931. 10.1038/ng.923 |
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O'Driscoll, Mary C., Daly, Sarah B., Urquhart, Jill E., Black, Graeme C.M., Pilz, Daniela T., Brockmann, Knut, McEntagart, Meriel, Abdel-Salam, Ghada, Zaki, Maha, Wolf, Nicole I., Ladda, Roger L., Sell, Susan, D'Arrigo, Stefano, Squier, Waney, Dobyns, William B., Livingston, John H. and Crow, Yanick J. 2010. Recessive mutations in the gene encoding the tight junction protein occludin cause band-like calcification with simplified gyration and polymicrogyria. American Journal of Human Genetics 87 (3) , pp. 354-364. 10.1016/j.ajhg.2010.07.012 |
Kumar, R. A., Pilz, Daniela T., Babatz, T. D., Cushion, T. D., Harvey, K., Topf, M., Yates, L., Robb, S., Uyanik, G., Mancini, G. M. S., Rees, Mark I., Harvey, R. J. and Dobyns, W. B. 2010. TUBA1A mutations cause wide spectrum lissencephaly (smooth brain) and suggest that multiple neuronal migration pathways converge on alpha tubulins. Human Molecular Genetics 19 (14) , pp. 2817-2827. 10.1093/hmg/ddq182 |
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