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ir. O.P.P. van den Briels

ir. O.P.P. van den Briels

Assistant Professor - medical

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Research Output (86)

Heterozygous missense mutations in SMARCA2 cause Nicolaides-Baraitser syndrome

Van Houdt J.K., Nowakowska B.A., Sousa S.B., van Schaik B.D., Seuntjens E., Avonce N., Sifrim A., Abdul-Rahman O.A., van den Boogaard M.J.H., et al [No Value], Vermeesch J.R. 2012, In: Nature Genetics. 44 , p. 445-449 5 p.

Mutations in WNT10A are present in more than half of isolated hypodontia cases

van den Boogaard M.J.H., Créton M.A., Bronkhorst Y., van Hout A., Hennekam E., Lindhout D., Cune M.S., Ploos van Amstel J.K. 2012, In: Journal of Medical Genetics. 49 , p. 327-331 5 p.

Highly multiplexed barcoded enrichment of up to 96 samples for next-generation sequencing

Harakalova M., Nijman I.J., van Lieshout S., Duran K.J., van Roosmalen M.J., Renkens I.J., Hrdlickova B., Mokry M., Houwen R.H.J., van Hasselt P.M., de Koning T.J., van den Boogaard M.J.H., Brilstra E.H., Koeleman B.P.C., Kroes H.Y., van Haelst M.M., Ploos van Amstel J.K., Kloosterman W.P., Cuppen E.P.J.G. 28 Mar 2011,

MLL2 mutation spectrum in 45 patients with Kabuki syndrome

Paulussen A.D., Stegmann A.P., Blok M.J., Tserpelis D., Posma-Velter C., Detisch Y., Smeets E.E., Wagemans A., Schrander J.J., van den Boogaard M.J.H., van der Smagt J.J., van Haeringen A., Stolte-Dijkstra I., Kerstjens-Frederikse W.S., Mancini G.M., Wessels M.W., Hennekam R.C., Vreeburg M., Geraedts J., de Ravel T., Fryns J.P., Smeets H.J., Devriendt K., Schrander-Stumpel C.T.R.M. 2011, In: Human Mutation. 32 , p. E2018-E2025 8 p.

Prenatal ultrasound screening for orofacial clefts.

Maarse W., Pistorius L.R., van Eeten W.K., Breugem C.C., Kon M., van den Boogaard M.J.H., Mink van der Molen A.B. 2011, In: Ultrasound in Obstetrics and Gynecology. 38 , p. 434-439 6 p.

Clinical spectrum of SIX3-associated mutations in holoprosencephaly:Correlation between genotype, phenotype and function

Lacbawan F., Solomon B. D., Roessler E., El-Jaick K., Domené S., Vélez 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., Njølstad P. R., Brunner H. G., Carey J. C., Hehr U., Müsebeck 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., Muenke Maximilian 1 Jun 2009, In: Journal of Medical Genetics. 46 , p. 389-398 10 p.

The MSX1 allele 4 homozygous child exposed to smoking at periconception is most sensitive in developing nonsyndromic orofacial clefts

van den Boogaard M.J.H., de Costa D., Krapels I.P.C., Liu F., van Duijn C., Sinke R.J., Lindhout D., Steegers-Theunissen R.P.M. 23 May 2009, In: European Journal of Human Genetics. 17 , p. 58 1 p.

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,

Copy number changes of the microcephalin 1 gene (MCPH1) in patients with autism spectrum disorders

Ozgen M.H., van Daalen E., Bolton P.F., Maloney V.K., Huang S., Cresswell L., van den Boogaard M.J.H., Eleveld M.J., van ´t Slot R., Hochstenbach R., Beemer F.A., Barrow M., Barber J.C., Poot M. 2009, In: Clinical Genetics. 76 , p. 348-356 9 p.

Microcephalin (MCPH1); a candidate gene for autism in 8p23.1 with variable penetrance

Barber J.C., Ozgen M.H., van Daalen E., Bolton P., Maloney V.K., Huang S., Laclan K., Cresswell L., van den Boogaard M.J.H., Eleveld M.J., van ´t Slot R., Hochstenbach R., Barrow M., Poot M. 15 Sep 2008,

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