http://orcid.org/0000-0002-7878-8307
References
- Stritt S, Nurden P, Turro E, Greene D, Jansen SB, Westbury SK, Petersen R, Astle WJ, Marlin S, Bariana TK, et al. A gain-of-function variant in DIAPH1 causes dominant macrothrombocytopenia and hearing loss. Blood. 2016;127:2903–2914. doi:10.1182/blood-2015-10-675629.
- Nurden AT, Nurden P. Congenital platelet disorders and understanding of platelet function. Br J Haematol. 2014;165:165–178. doi:10.1111/bjh.12662.
- Saposnik B, Binard S, Fenneteau O, Nurden A, Nurden P, Hurtaud-Roux M-F, Schlegel N. Mutation spectrum and genotype-phenotype correlations in a large French cohort of MYH9-related disorders. Mol Genet Genomic Med. 2014;2:297–312. doi:10.1002/mgg3.68.
- Ganaha A, Kaname T, Shinjou A, Chinen Y, Yanagi K, Higa T, Kondo S, Suzuki M. Progressive macrothrombocytopenia and hearing loss in a large family with DIAPH1 related disease. Am J Med Genet A. 2017;173:2826–2830. doi:10.1002/ajmg.a.38411.
- Neuhaus C, Lang-Roth R, Zimmermann U, Heller R, Eisenberger T, Weikert M, Markus S, Knipper M, Bolz HJ. Extension of the clinical and molecular phenotype of DIAPH1-associated autosomal dominant hearing loss (DFNA1). Clin Genet. 2017;91:892–901. doi:10.1111/cge.12915.
- Bastida JM, Lozano ML, Benito R, Janusz K, Palma-Barqueros V, Del Rey M, Hernández-Sánchez JM, Riesco S, Bermejo N, González-García H, et al. Introducing high-throughput sequencing into mainstream genetic diagnosis practice in inherited platelet disorders. Haematologica. 2018;103:148–162. doi:10.3324/haematol.2017.171132.
- Weyand RR, Ishizaki T, Ishizaki T, Ishizaki T, Ahmadian MR, Wittinghofer A. Structural and mechanistic insights into the interaction between Rho and mammalian Dia. Nature. 2005;435:513–518. doi:10.1038/nature03604.
- Nezami A, Poy F, Toms A, Zheng W, Eck MJ, Kursula P. Crystal structure of a complex between amino and carboxy terminal fragments of mDia1: insights into autoinhibition of diaphanous-related formins. PLoS One. 2010;5(9). doi:10.1371/journal.pone.0012992.
- Noris P, Schlegel N, Klersy C, Heller PG, Civaschi E, Pujol-Moix N, Fabris F, Favier R, Gresele P, Latger-Cannard V, et al. Analysis of 339 pregnancies in 181 women with 13 different forms of inherited thrombocytopenia. Haematologica. 2014;99:1387–1394. doi:10.3324/haematol.2014.105924.