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dr. ir. S.T. (Paulien) Stigter

dr. ir. S.T. (Paulien) Stigter

Assistant Professor - medical

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Research Output (79)

Osteoporosis and skeletal dysplasia caused by pathogenic variants in SGMS2

Pekkinen Minna, Terhal Paulien A, Botto Lorenzo D, Henning Petra, Mäkitie Riikka E, Roschger Paul, Jain Amrita, Kol Matthijs, Kjellberg Matti A, Paschalis Eleftherios P, van Gassen Koen, Murray Mary, Bayrak-Toydemir Pinar, Magnusson Maria K, Jans Judith, Kausar Mehran, Carey John C, Somerharju Pentti, Lerner Ulf H, Vesa Olkkonen M, Klaushofer Klaus, Holthuis Joost Cm, Mäkitie Outi 19 Feb 2019, In: JCI Insight. 4 21 p.

Erratum:De Novo Mutations Affecting the Catalytic Cα Subunit of PP2A, PPP2CA, Cause Syndromic Intellectual Disability Resembling Other PP2A-Related Neurodevelopmental Disorders (The American Journal of Human Genetics (2019) 104(1) (139–156), (S0002929718304531) (10.1016/j.ajhg.2018.12.002))

Reynhout Sara, Jansen Sandra, Haesen Dorien, van Belle Siska, de Munnik Sonja A., Bongers Ernie M.H.F., Schieving Jolanda H., Marcelis Carlo, Amiel Jeanne, Rio Marlène, Mclaughlin Heather, Ladda Roger, Sell Susan, Kriek Marjolein, Peeters-Scholte Cacha M.P.C.D., Terhal Paulien A., van Gassen Koen L., Verbeek Nienke, Henry Sonja, Schwoerer Jessica Scott, Malik Saleem, Revencu Nicole, Ferreira Carlos R., Macnamara Ellen, Braakman Hilde M.H., Brimble Elise, Ruzhnikov Maura R.Z., Wagner Matias, Harrer Philip, Wieczorek Dagmar, Kuechler Alma, Tziperman Barak, Barel Ortal, de Vries Bert B.A., Gordon Christopher T., Janssens Veerle, Vissers Lisenka E.L.M. 7 Feb 2019, In: American Journal of Human Genetics. 104 , p. 357-357 1 p.

De Novo Mutations Affecting the Catalytic Cα Subunit of PP2A, PPP2CA, Cause Syndromic Intellectual Disability Resembling Other PP2A-Related Neurodevelopmental Disorders

Reynhout Sara, Jansen Sandra, Haesen Dorien, van Belle Siska, de Munnik Sonja A., Bongers Ernie M.H.F., Schieving Jolanda H., Marcelis Carlo, Amiel Jeanne, Rio Marlène, Mclaughlin Heather, Ladda Roger, Sell Susan, Kriek Marjolein, Peeters-Scholte Cacha M.P.C.D., Terhal Paulien A., van Gassen Koen L., Verbeek Nienke, Henry Sonja, Scott Schwoerer Jessica, Malik Saleem, Revencu Nicole, Ferreira Carlos R., Macnamara Ellen, Braakman Hilde M.H., Brimble Elise, Ruznikov Maura R.Z., Wagner Matias, Harrer Philip, Wieczorek Dagmar, Kuechler Alma, Tziperman Barak, Barel Ortal, de Vries Bert B.A., Gordon Christopher T., Janssens Veerle, Vissers Lisenka E.L.M. 3 Jan 2019, In: American Journal of Human Genetics. 104 , p. 139-156 18 p.

De novo variants in FBXO11 cause a syndromic form of intellectual disability with behavioral problems and dysmorphisms

Jansen Sandra, van der Werf Ilse M., Innes A. Micheil, Afenjar Alexandra, Agrawal Pankaj B., Anderson Ilse J., Atwal Paldeep S., van Binsbergen Ellen, van den Boogaard Marie José, Castiglia Lucia, Coban-Akdemir Zeynep H., van Dijck Anke, Doummar Diane, van Eerde Albertien M., van Essen Anthonie J., van Gassen Koen L., Guillen Sacoto Maria J., van Haelst Mieke M., Iossifov Ivan, Jackson Jessica L., Judd Elizabeth, Kaiwar Charu, Keren Boris, Klee Eric W., Klein Wassink-Ruiter Jolien S., Meuwissen Marije E., Monaghan Kristin G., de Munnik Sonja A., Nava Caroline, Ockeloen Charlotte W., Pettinato Rosa, Racher Hilary, Rinne Tuula, Romano Corrado, Sanders Victoria R., Schnur Rhonda E., Smeets Eric J., Stegmann Alexander P.A., Stray-Pedersen Asbjørg, Sweetser David A., Terhal Paulien A., Tveten Kristian, VanNoy Grace E., de Vries Petra F., Waxler Jessica L., Willing Marcia, Pfundt Rolph, Veltman Joris A., Kooy R. Frank, Vissers Lisenka E.L.M., de Vries Bert B.A. 1 Jan 2019, In: European Journal of Human Genetics. 27 , p. 738-746 9 p.

BCL11B mutations in patients affected by a neurodevelopmental disorder with reduced type 2 innate lymphoid cells

Lessel Davor, Gehbauer Christina, Bramswig Nuria C., Schluth-Bolard Caroline, Venkataramanappa Sathish, van Gassen Koen L. I., Hempel Maja, Haack Tobias B., Baresic Anja, Genetti Casie A., Funari Mariana F. A., Lessel Ivana, Kuhlmann Leonie, Simon Ruth, Liu Pentao, Denecke Jonas, Kuechler Alma, de Kruijff Ineke, Shoukier Moneef, Lek Monkol, Mullen Thomas, Luedecke Hermann-Josef, Lerario Antonio M., Kobbe Robin, Krieger Thorsten, Demeer Benedicte, Lebrun Marine, Keren Boris, Nava Caroline, Buratti Julien, Afenjar Alexandra, Shinawi Marwan, Sacoto Maria J. Guillen, Gauthier Julie, Hamdan Fadi F., Laberge Anne-Marie, Campeau Philippe M., Louie Raymond J., Cathey Sara S., Prinz Immo, Jorge Alexander A. L., Terhal Paulien A., Lenhard Boris, Wieczorek Dagmar, Strom Tim M., Agrawal Pankaj B., Britsch Stefan, Tolosa Eva, Kubisch Christian Aug 2018, In: Brain. 141 , p. 2299-2311

Cantú syndrome, the changing phenotype:a report of the two oldest Dutch patients

Roessler Helen I, Volker-Touw Catharina M L, Terhal Paulien A, van Haaften Gijs, van Haelst Mieke M Jul 2018, In: Clinical dysmorphology. 27 , p. 78-83 6 p.

De Novo and Inherited Loss-of-Function Variants in TLK2:Clinical and Genotype-Phenotype Evaluation of a Distinct Neurodevelopmental Disorder

Reijnders Margot R.F., Miller Kerry A., Alvi Mohsan, Goos Jacqueline A.C., Lees Melissa M., de Burca Anna, Henderson Alex, Kraus Alison, Mikat Barbara, de Vries Bert B.A., Isidor Bertrand, Kerr Bronwyn, Marcelis Carlo, Schluth-Bolard Caroline, Deshpande Charu, Ruivenkamp Claudia A.L., Wieczorek Dagmar, Baralle Diana, Blair Edward M., Engels Hartmut, Lüdecke Hermann Josef, Eason Jacqueline, Santen Gijs W.E., Clayton-Smith Jill, Chandler Kate, Tatton-Brown Katrina, Payne Katelyn, Helbig Katherine, Radtke Kelly, Nugent Kimberly M., Cremer Kirsten, Strom Tim M., Bird Lynne M., Sinnema Margje, Bitner-Glindzicz Maria, van Dooren Marieke F., Alders Marielle, Koopmans Marije, Brick Lauren, Kozenko Mariya, Harline Megan L., Klaassens Merel, Steinraths Michelle, Cooper Nicola S., Edery Patrick, Yap Patrick, Terhal Paulien A., van der Spek Peter J., Lakeman Phillis, Taylor Rachel L., 7 Jun 2018, In: American Journal of Human Genetics. 102 , p. 1195-1203 9 p.

De novo variants in CDK13 associated with syndromic ID/DD:Molecular and clinical delineation of 15 individuals and a further review

van den Akker W. M.R., Brummelman I., Martis L. M., Timmermans R. N., Pfundt R., Kleefstra T., Willemsen M. H., Gerkes E. H., Herkert J. C., van Essen A. J., Rump P., Vansenne F., Terhal P. A., van Haelst M. M., Cristian I., Turner C. E., Cho M. T., Begtrup A., Willaert R., Fassi E., van Gassen K. L.I., Stegmann A. P.A., de Vries B. B.A., Schuurs-Hoeijmakers J. H.M. 1 May 2018, In: Clinical Genetics. 93 , p. 1000-1007 8 p.

Further delineation of an entity caused by CREBBP and EP300 mutations but not resembling Rubinstein-Taybi syndrome

Menke Leonie A, Gardeitchik Thatjana, Hammond Peter, Heimdal Ketil R, Houge Gunnar, Hufnagel Sophia B, Ji Jianling, Johansson Stefan, Kant Sarina G, Kinning Esther, Leon Eyby L, Newbury-Ecob Ruth, Paolacci Stefano, Pfundt Rolph, Ragge Nicola K, Rinne Tuula, Ruivenkamp Claudia, Saitta Sulagna C, Sun Yu, Tartaglia Marco, Terhal Paulien A, van Essen Anthony J, Vigeland Magnus D, Xiao Bing, Hennekam Raoul C, Apr 2018, In: American Journal of Medical Genetics. Part A. 176 , p. 862-876 15 p.

Two novel cases expanding the phenotype of SETD2-related overgrowth syndrome

van Rij Maartje C, Hollink Iris H I M, Terhal Paulien Anna, Kant Sarina G, Ruivenkamp Claudia, van Haeringen Arie, Kievit J Anneke, van Belzen Martine J 2018, In: American Journal of Medical Genetics. Part A. 176 , p. 1212-1215 4 p.

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