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dr. E.H. (Eva) Brilstra

dr. E.H. (Eva) Brilstra

Assistant Professor - medical

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Research Output (146)

Disentangling the myriad genomics of complex disorders, specifically focusing on autism, epilepsy, and schizophrenia

Poot M., van der Smagt J.J., Brilstra E.H., Bourgeron T. 2011, In: Cytogenetic and Genome Research. 135 , p. 228-240 13 p.

Rare structural genomic variants in nonsyndromic epileptic encephalopathies with and without MRI-detectable structural brain abnormalities

Helbig I., Swinkels M.E.M., Moller R.S., Aten E., Brilstra E.H., Ostertag P., Reutlinger C., Caliebe A., Ruivenkamp C., Eleveld M.J., van ´t Slot R., Post J.G., Terhal P.A., Boor R., von Spiczak S., Muhle H., Klitten L.L., van Nieuwenhuizen O., Breuning M., Stephani U., Tommerup N., Hjalgrim H., Lindhout D., Koeleman B.P.C., Poot M. 27 Jun 2010, p. 107-108 2 p.

Systematic evaluation of the clinical significance of inherited and de novo Copy Number Variations in families with Autism

Poot M., van Daalen E., Kemner C., Verbeek N.E., de Jonge M., Dijkhuizen T., Rump P., Houben R., van ´t Slot R., van der Zwaag B., Staal W.G., Beemer F.A., Burbach J.P.H., Ploos van Amstel H.K., Hochstenbach R., Brilstra E.H. 12 Jun 2010,

Recurrent microdeletions at 15q11.2 and 16p13.11 predispose to idiopathic generalized epilepsies

de Kovel C.G.F., Trucks H., Helbig I., Mefford H.C., Baker C., Leu C., Kluck C., Muhle H., von Spiczak S., Ostertag P., Obermeier T., Kleefuss-Lie A.A., Hallmann K., Steffens M., Gaus V., Klein K.M., Hamer H.M., Rosenow F., Brilstra E.H., Kasteleijn-Nolst Trenité T.G.A., Swinkels M.E.M., Koeleman B.P.C., Lindhout D., Eichler E.E., Sander T. 2010, In: Brain. 133 , p. 23-32 10 p.

Novel loci and candidate genes for autism spectrum disorder detected by SNP array based segmental aneuploidy screening

van Daalen E., Verbeek N.E., Ozgen H.M., Vorstman J.A.S., de Jonge M., van ´t Slot R., Brilstra E.H., Freitag C.M., Hochstenbach R., Poot M. 4 Jul 2009,

Novel loci and candidate genes for autism spectrum disorder detected by SNP array based segmental aneuploidy screening

van Daalen E., Verbeek N., Oezgen H., Vorstman J., de Jonge M., van 't Slot R., Brilstra E., Freitag C., Hochstenbach R., Poot M. Jun 2009, In: Chromosome Research. 17 , p. 93-93 1 p.

Gene-Network Analysis Identifies Susceptibility Genes Related to Glycobiology in Autism

van der Zwaag B., Franke L.H., Poot ME, Hochstenbach R., Spierenburg H.A., Vorstman J.A.S., van Daalen E., de Jonge Maretha, Verbeek N.E., Brilstra E.H., van ´t Slot R., Ophoff R.A., van Es M.A., Blauw H.M., Veldink J.H., Buizer - Voskamp J.E., Beemer F.A., van den Berg L.H., Wijmenga C., van Amstel H.K., van Engeland H., Burbach J.P.H., Staal W.G. 28 May 2009, In: PLoS ONE [E]. 4 10 p.

Multiple genetic etiologies in parents with 15q11.2 and 15q13.3 microdeletions

Poot M., Kroes H.Y., Flipsen - ten Berg K., van der Smagt J.J., van ´t Slot R., Nelen M.R., van Binsbergen E., Brilstra E.H., Hochstenbach P.F.R. 23 Apr 2009,

Novel loci and candidate genes for autism spectrum disorder detected by SNP array based segmental aneuploidy screening

Poot M., Verbeek N.E., van ´t Slot R., Nelen M.R., van Daalen E., Ozgen H.M., Vorstman J.A.S., de Jonge M.V., Kroes H.Y., Terhal P.A., Beemer F.A., van der Smagt J.J., Ippel P.F., van den Boogaard M.J.H., van der Zwaag B., Visser G., Staal W.G., van Engeland H., Burbach J.P.H., Brilstra E.H., Freitag C.M., Ploos van Amstel H.K., Hochstenbach P.F.R. 9 Mar 2009,

DNA diagnostics of SCN1A and KCNQ2 in the Netherlands: an update

Verbeek N.E., van Kempen M.J.A., Poot M., Lindhout D., Brilstra E.H. 23 Jan 2009,

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