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dr. T. van Suurland

dr. T. van Suurland

PHD Candidate - Other

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Research Output (84)

De Novo Missense Substitutions in the Gene Encoding CDK8, a Regulator of the Mediator Complex, Cause a Syndromic Developmental Disorder

Calpena Eduardo, Hervieu Alexia, Kaserer Teresa, Swagemakers Sigrid M.A., Goos Jacqueline A.C., Popoola Olajumoke, Ortiz-Ruiz Maria Jesus, Barbaro-Dieber Tina, Bownass Lucy, Brilstra Eva H., Brimble Elise, Foulds Nicola, Grebe Theresa A., Harder Aster V.E., Lees Melissa M., Monaghan Kristin G., Newbury-Ecob Ruth A., Ong Kai Ren, Osio Deborah, Reynoso Santos Francis Jeshira, Ruzhnikov Maura R.Z., Telegrafi Aida, van Binsbergen Ellen, van Dooren Marieke F., van der Spek Peter J., Blagg Julian, Twigg Stephen R.F., Mathijssen Irene M.J., Clarke Paul A., Wilkie Andrew O.M., 4 Apr 2019, In: American Journal of Human Genetics. 104 , p. 709-720 12 p.

Author Correction:CHD3 helicase domain mutations cause a neurodevelopmental syndrome with macrocephaly and impaired speech and language (Nature Communications, (2018), 9, 1, (4619), 10.1038/s41467-018-06014-6)

Blok Lot Snijders, Rousseau Justine, Twist Joanna, Ehresmann Sophie, Takaku Motoki, Venselaar Hanka, Rodan Lance H., Nowak Catherine B., Douglas Jessica, Swoboda Kathryn J., Steeves Marcie A., Sahai Inderneel, Stumpel Connie T.R.M., Stegmann Alexander P.A., Wheeler Patricia, Willing Marcia, Fiala Elise, Kochhar Aaina, Gibson William T., Cohen Ana S.A., Agbahovbe Ruky, Innes A. Micheil, Au P. Y.Billie, Rankin Julia, Anderson Ilse J., Skinner Steven A., Louie Raymond J., Warren Hannah E., Afenjar Alexandra, Keren Boris, Nava Caroline, Buratti Julien, Isapof Arnaud, Rodriguez Diana, Lewandowski Raymond, Propst Jennifer, van Essen Ton, Choi Murim, Lee Sangmoon, Chae Jong H., Price Susan, Schnur Rhonda E., Douglas Ganka, Wentzensen Ingrid M., Zweier Christiane, Koopmans Marije, Brilstra Eva H., Monroe Glen R., van Gassen Koen L.I., van Binsbergen Ellen, 15 Feb 2019, In: Nature Communications. 10

Structural genomic variation in patients with congenital dease:Evolution in variant detection and interpretation

van Binsbergen Ellen 25 Jan 2019, 165 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.

Partial Loss of USP9X Function Leads to a Male Neurodevelopmental and Behavioral Disorder Converging on Transforming Growth Factor β Signaling

Johnson Brett V, Kumar Raman, Oishi Sabrina, Alexander Suzy, Kasherman Maria, Vega Michelle Sanchez, Ivancevic Atma, Gardner Alison, Domingo Deepti, Corbett Mark, Parnell Euan, Yoon Sehyoun, Oh Tracey, Lines Matthew, Lefroy Henrietta, Kini Usha, Van Allen Margot, Grønborg Sabine, Mercier Sandra, Küry Sébastien, Bézieau Stéphane, Pasquier Laurent, Raynaud Martine, Afenjar Alexandra, Billette de Villemeur Thierry, Keren Boris, Désir Julie, Van Maldergem Lionel, Marangoni Martina, Dikow Nicola, Koolen David A, VanHasselt Peter M, Weiss Marjan, Zwijnenburg Petra, Sa Joaquim, Reis Claudia Falcao, López-Otín Carlos, Santiago-Fernández Olaya, Fernández-Jaén Alberto, Rauch Anita, Steindl Katharina, Joset Pascal, Goldstein Amy, Madan-Khetarpal Suneeta, Infante Elena, Zackai Elaine, Mcdougall Carey, Narayanan Vinodh, van Binsbergen Ellen, van der Zwaag Bert, 2019, In: Biological Psychiatry. 87 , p. 100-112 13 p.

NBEA:Developmental disease gene with early generalized epilepsy phenotypes

Mulhern Maureen S, Stumpel Constance, Stong Nicholas, Brunner Han G, Bier Louise, Lippa Natalie, Riviello James, Rouhl Rob P W, Kempers Marlies, Pfundt Rolph, Stegmann Alexander P A, Kukolich Mary K, Telegrafi Aida, Lehman Anna, Lopez-Rangel Elena, Houcinat Nada, Barth Magalie, den Hollander Nicolette, Hoffer Mariette J V, Weckhuysen Sarah, Roovers Jolien, Djemie Tania, Barca Diana, Ceulemans Berten, Craiu Dana, Lemke Johannes R, Korff Christian, Mefford Heather C, Meyers Candace T, Siegler Zsuzsanna, Hiatt Susan M, Cooper Gregory M, Bebin E Martina, Snijders Blok Lot, Veenstra-Knol Hermine E, Baugh Evan H, Brilstra Eva H, Volker-Touw Catharina M L, van Binsbergen Ellen, Revah-Politi Anya, Pereira Elaine, McBrian Danielle, Pacault Mathilde, Isidor Bertrand, Le Caignec Cedric, Gilbert-Dussardier Brigitte, Bilan Frederic, Heinzen Erin L, Goldstein David B, Stevens Servi J C, Nov 2018, In: Annals of Neurology. 84 , p. 788-795 8 p.

A survey of undetected, clinically relevant chromosome abnormalities when replacing postnatal karyotyping by Whole Genome Sequencing

Hochstenbach Ron, van Binsbergen Ellen, Schuring-Blom Heleen, Buijs Arjan, Ploos van Amstel Hans Kristian 1 Jan 2018, In: European Journal of Medical Genetics. 62

Heterozygous loss-of-function variants of MEIS2 cause a triad of palatal defects, congenital heart defects, and intellectual disability

Verheije Rosalind, Kupchik Gabriel S., Isidor Bertrand, Kroes Hester Y., Lynch Sally Ann, Hawkes Lara, Hempel Maja, Gelb Bruce D., Ghoumid Jamal, D’Amours Guylaine, Chandler Kate, Dubourg Christèle, Loddo Sara, Tümer Zeynep, Shaw-Smith Charles, Nizon Mathilde, Shevell Michael, Van Hoof Evelien, Anyane-Yeboa Kwame, Cerbone Gaetana, Clayton-Smith Jill, Cogné Benjamin, Corre Pierre, Corveleyn Anniek, De Borre Marie, Hjortshøj Tina Duelund, Fradin Mélanie, Gewillig Marc, Goldmuntz Elizabeth, Hens Greet, Lemyre Emmanuelle, Journel Hubert, Kini Usha, Kortüm Fanny, Le Caignec Cedric, Novelli Antonio, Odent Sylvie, Petit Florence, Revah-Politi Anya, Stong Nicholas, Strom Tim M., van Binsbergen Ellen, Devriendt Koenraad, Breckpot Jeroen, 1 Jan 2018, In: European Journal of Human Genetics. 27 , p. 278-290 13 p.

The Immune Signaling Adaptor LAT Contributes to the Neuroanatomical Phenotype of 16p11.2 BP2-BP3 CNVs

Loviglio Maria Nicla, Arbogast Thomas, Jønch Aia Elise, Collins Stephan C., Popadin Konstantin, Bonnet Camille S., Giannuzzi Giuliana, Maillard Anne M., Jacquemont Sébastien, Loviglio Maria Nicla, Jønch Aia Elise, Popadin Konstantin, Giannuzzi Giuliana, Maillard Anne M., Fagerberg Christina, Andersen Charlotte Brasch, Doco-Fenzy Martine, Delrue Marie-Ange, Faivre Laurence, Arveiler Benoit, Geneviève David, Schneider Anouck, Gerard Marion, Andrieux Joris, El Chehadeh Salima, Schaefer Elise, Depienne Christel, Van Haelst Mieke, Brilstra Eva H., Van Binsbergen Ellen, van Harssel Jeske, van der Veken Lars T., Gusella James F, Shen Yiping, Mitchell Elyse, Kini Usha, Hawkes Lara, Campbell Carolyn, Butschi Florence Niel, Addor Marie Claude, Beckmann Jacques S., Jacquemont Sébastien, Reymond Alexandre, Yalcin Binnaz, Katsanis Nicholas, Golzio Christelle, Reymond Alexandre, 5 Oct 2017, In: American Journal of Human Genetics. 101 , p. 564-577 14 p.

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