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drs. P.A. (Paulien) Terhal

Assistant Professor - medical

  • Section Clinical Genetics

Research Programs

Research Output (74)

Correction:The CHD4-related syndrome: a comprehensive investigation of the clinical spectrum, genotype–phenotype correlations, and molecular basis (Genetics in Medicine, (2020), 22, 2, (389-397), 10.1038/s41436-019-0612-0)

Weiss Karin, Lazar Hayley P., Kurolap Alina, Martinez Ariel F., Paperna Tamar, Cohen Lior, Smeland Marie F., Whalen Sandra, Heide Solveig, Keren Boris, Terhal Pauline, Irving Melita, Takaku Motoki, Roberts John D., Petrovich Robert M., Vergano Samantha A.Schrier, Kenney Amy, Hove Hanne, DeChene Elizabeth, Quinonez Shane C., Colin Estelle, Ziegler Alban, Rumple Melissa, Jain Mahim, Monteil Danielle, Roeder Elizabeth R., Nugent Kimberly, van Haeringen Arie, Gambello Michael, Santani Avni, Medne Līvija, Krock Bryan, Skraban Cara M., Zackai Elaine H., Dubbs Holly A., Smol Thomas, Ghoumid Jamal, Parker Michael J., Wright Michael, Turnpenny Peter, Clayton-Smith Jill, Metcalfe Kay, Kurumizaka Hitoshi, Gelb Bruce D., Feldman Hagit Baris, Campeau Philippe M., Muenke Maximilian, Wade Paul A., Lachlan Katherine 1 mrt 2020, In: Genetics in Medicine. 22 1 p.

Biallelic variants in POLR3GL cause endosteal hyperostosis and oligodontia

Terhal Paulien A, Vlaar Judith M, Middelkamp Sjors, Nievelstein Rutger A J, Nikkels Peter G J, Ross Jamila, Créton Marijn, Bos Jeroen W, Voskuil-Kerkhof Elsbeth S M, Cuppen Edwin, Knoers Nine, van Gassen Koen L I jan 2020, In: European Journal of Human Genetics. 28 , p. 31-39 9 p.

Deleterious de novo variants of X-linked ZC4H2 in females cause a variable phenotype with neurogenic arthrogryposis multiplex congenita

Frints Suzanna G. M., Hennig Friederike, Colombo Roberto, Jacquemont Sebastien, Terhal Paulien, Zimmerman Holly H., Hunt David, Mendelsohn Bryce A., Kordass Ulrike, Webster Richard, Sinnema Margje, Abdul-Rahman Omar, Suckow Vanessa, Fernandez-Jaen Alberto, van Roozendaal Kees, Stevens Servi J. C., Macville Merryn V. E., Al-Nasiry Salwan, van Gassen Koen, Utzig Norbert, Koudijs Suzanne M., McGregor Lesley, Maas Saskia M., Baralle Diana, Dixit Abhijit, Wieacker Peter, Lee Marcus, Lee Arthur S., Engle Elizabeth C., Houge Gunnar, Gradek Gyri A., Douglas Andrew G. L., Longman Cheryl, Joss Shelagh, Velasco Danita, Hennekam Raoul C., Hirata Hiromi, Kalscheuer Vera M. 1 dec 2019, In: Human Mutation. 40 , p. 2270-2285 16 p.

De novo substitutions of TRPM3 cause intellectual disability and epilepsy

Dyment David A., Terhal Paulien A., Rustad Cecilie F., Tveten Kristian, Griffith Christopher, Jayakar Parul, Shinawi Marwan, Ellingwood Sara, Smith Rosemarie, van Gassen Koen, McWalter Kirsty, Innes A. Micheil, Lines Matthew A. 1 okt 2019, In: European Journal of Human Genetics. 27 , p. 1611-1618

Identification of human D lactate dehydrogenase deficiency

Monroe Glen R, van Eerde Albertien M, Tessadori Federico, Duran Karen J, Savelberg Sanne M C, van Alfen Johanna C, Terhal Paulien A, van der Crabben Saskia N, Lichtenbelt Klaske D, Fuchs Sabine A, Gerrits Johan, van Roosmalen Markus J, van Gassen Koen L, van Aalderen Mirjam, Koot Bart G, Oostendorp Marlies, Duran Marinus, Visser Gepke, de Koning Tom J, Calì Francesco, Bosco Paolo, Geleijns Karin, de Sain-van der Velden Monique G M, Knoers Nine V, Bakkers Jeroen, Verhoeven-Duif Nanda M, van Haaften Gijs, Jans Judith J 1 apr 2019, In: Nature Communications. 10

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

All Research Output (74)