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drs. P.A. (Paulien) Terhal

drs. P.A. (Paulien) Terhal

Assistant Professor - medical
  • Section Clinical Genetics

Research Programs

Child Health

Research Output (79)

Further delineation of auriculocondylar syndrome based on 14 novel cases and reassessment of 25 published cases

Vegas Nancy, Demir Zeynep, Gordon Christopher T, Breton Sylvain, Romanelli Tavares Vanessa L, Moisset Hugo, Zechi-Ceide Roseli, Kokitsu-Nakata Nancy M, Kido Yasuhiro, Marlin Sandrine, Gherbi Halem Souad, Meerschaut Ilse, Callewaert Bert, Chung Brian, Revencu Nicole, Lehalle Daphné, Petit Florence, Propst Evan J, Papsin Blake C, Phillips John H, Jakobsen Linda, Le Tanno Pauline, Thévenon Julien, McGaughran Julie, Gerkes Erica H, Leoni Chiara, Kroisel Peter, Tan Tiong Y, Henderson Alex, Terhal Paulien, Basel-Salmon Lina, Alkindy Adila, White Susan M, Passos-Bueno Maria R, Pingault Véronique, De Pontual Loïc, Amiel Jeanne 16 Feb 2022, In: Human mutation. 43 , p. 582-594 13 p.

TNPO2 variants associate with human developmental delays, neurologic deficits, and dysmorphic features and alter TNPO2 activity in Drosophila

Goodman Lindsey D, Cope Heidi, Nil Zelha, Ravenscroft Thomas A, Charng Wu-Lin, Lu Shenzhao, Tien An-Chi, Pfundt Rolph, Koolen David A, Haaxma Charlotte A, Veenstra-Knol Hermine E, Wassink-Ruiter Jolien S Klein, Wevers Marijke R, Jones Melissa, Walsh Laurence E, Klee Victoria H, Theunis Miel, Legius Eric, Steel Dora, Barwick Katy E S, Kurian Manju A, Mohammad Shekeeb S, Dale Russell C, Terhal Paulien A, van Binsbergen Ellen, Kirmse Brian, Robinette Bethany, Cogné Benjamin, Isidor Bertrand, Grebe Theresa A, Kulch Peggy, Hainline Bryan E, Sapp Katherine, Morava Eva, Klee Eric W, Macke Erica L, Trapane Pamela, Spencer Christopher, Si Yue, Begtrup Amber, Moulton Matthew J, Dutta Debdeep, Kanca Oguz, Wangler Michael F, Yamamoto Shinya, Bellen Hugo J, Tan Queenie K-G, 2 Sep 2021, In: American Journal of Human Genetics. 108 , p. 1669-1691 23 p.

Variants in CAPZA2, a member of an F-actin capping complex, cause intellectual disability and developmental delay

Huang Yan, Mao Xiao, van Jaarsveld Richard H, Shu Li, Terhal Paulien A, Jia Zhengjun, Xi Hui, Peng Ying, Yan Huiming, Yuan Shan, Li Qibin, Wang Hua, Bellen Hugo J 27 Apr 2020, In: Human Molecular Genetics. 29 , p. 1537-1546 10 p.

Correction:The CHD4-related syndrome: a comprehensive investigation of the clinical spectrum, genotype-phenotype correlations, and molecular basis

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 Mar 2020, In: Genetics in Medicine. 22 , p. 669 1 p.

The CHD4-related syndrome:a comprehensive investigation of the clinical spectrum, genotype–phenotype correlations, and molecular basis

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., Schrier Vergano Samantha A., 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., Baris Feldman Hagit, Campeau Philippe M., Muenke Maximilian, Wade Paul A., Lachlan Katherine 1 Feb 2020, In: Genetics in Medicine. 22 , p. 389-397 9 p.

Characterization of SETD1A haploinsufficiency in humans and Drosophila defines a novel neurodevelopmental syndrome

Kummeling Joost, Stremmelaar Diante E., Raun Nicholas, Reijnders Margot R.F., Willemsen Marjolein H., Ruiterkamp-Versteeg Martina, Schepens Marga, Man Calvin C.O., Gilissen Christian, Cho Megan T., McWalter Kirsty, Sinnema Margje, Wheless James W., Simon Marleen E.H., Genetti Casie A., Casey Alicia M., Terhal Paulien A., van der Smagt Jasper J., van Gassen Koen L.I., Joset Pascal, Bahr Angela, Steindl Katharina, Rauch Anita, Keller Elmar, Raas-Rothschild Annick, Koolen David A., Agrawal Pankaj B., Hoffman Trevor L., Powell-Hamilton Nina N., Thiffault Isabelle, Engleman Kendra, Zhou Dihong, Bodamer Olaf, Hoefele Julia, Riedhammer Korbinian M., Schwaibold Eva M.C., Tasic Velibor, Schubert Dirk, Top Deniz, Pfundt Rolph, Higgs Martin R., Kramer Jamie M., Kleefstra Tjitske 1 Jan 2020, In: Molecular Psychiatry. 26 , p. 2013-2024 12 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 Oct 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

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