dr. D.G.M. Bosch (Danielle)
Aandachtsgebieden uitklapper, klik om te openen
Klinische genetica (algemeen)
Wetenschappelijk onderzoek en publicaties uitklapper, klik om te openen
Promotieonderzoek Cerebral visual impairment: from clinic to genetics, Bartiméus te (Zeist) en Radboudumc (Nijmegen). Promotor: prof. dr. F. Cremers, co-promotors: dr. B. de Vries en dr. N. Boonstra. Verdediging 3 februari 2016.
Publicaties
Zie ook Pubmed
Vijf key publications:
• Chen, C.A.,* Bosch, D.G.,* Cho, M.T., Rosenfeld, J.A., Shinawi, M., Lewis, R.A., Mann, J., Jayakar, P., Payne, K., Walsh, L, et al. The expanding clinical phenotype of Bosch-Boonstra-Schaaf Optic Atrophy syndrome: 20 new cases, and possible genotype-phenotype correlations. Genet Med. (Epub ahead of print).
• Bosch D.G., Boonstra, F.N., de Leeuw, N., Pfundt, R., Nillesen, W.M., de Ligt, J., Gilissen, C., Jhangiani, S., Vissers, L.E., Lupski, J.R., et al. Novel genetic causes of cerebral visual impairment. Eur J Hum Genet 2016:24:660-5.
• Bosch D.G., Boonstra, F.N., Kinoshita, T., Jhangiani, S, de Ligt, J., Cremers,F.P., Lupski, J.R., Murakami, Y., de Vries, B.B. Cerebral visual impairment and intellectual disability caused by PGAP1 variants. Eur J Hum Genet 2015:23:1689-93.
• Bosch, D.G., Boonstra, F.N., Willemsen, M.A., Cremers, F.P., and de Vries, B.B. Low vision due to cerebral visual impairment: differentiating between acquired and genetic causes. BMC Ophthalmol 2014:14, 59.
• Bosch, D.G.*, Boonstra, F.N.*, Gonzaga-Jauregui, C.*, Xu, M., de Ligt, J., Jhangiani, S., Wiszniewski, W., Muzny, D.M., Yntema, H.G., Pfundt, R., et al. NR2F1 mutations cause optic atrophy with intellectual disability. Am J Hum Genet 2014:94,303-9.
* Shared first authors.