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dr. E.H. Brilstra

Assistant Professor - medical

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Research Output (124)

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.

Punctate white-matter lesions in the full-term newborn:Underlying aetiology and outcome

Hayman Michael, van Wezel-Meijler Gerda, van Straaten Henrica, Brilstra Eva, Groenendaal Floris, de Vries Linda S. mrt 2019, In: European Journal of Paediatric Neurology. 23 , p. 280-287

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

The landscape of epilepsy-related GATOR1 variants

Baldassari Sara et al. 1 feb 2019, In: Genetics in Medicine. 21 , p. 398-408 11 p.

Long-term treatment effect in cerebrotendinous xanthomatosis depends on age at treatment start

Stelten Bianca M.L., Huidekoper Hidde H., van de Warrenburg Bart P.C., Brilstra Eva H., Hollak Carla E.M., Haak Harm R., Kluijtmans Leo A.J., Wevers Ron A., Verrips Aad 8 jan 2019, In: Neurology. 92 , p. e83-e95

GRIN2A-related disorders:genotype and functional consequence predict phenotype

Strehlow Vincent, Heyne Henrike O., Vlaskamp Danique R.M., Marwick Katie F.M., Rudolf Gabrielle, de Bellescize Julitta, Biskup Saskia, Brilstra Eva H., Brouwer Oebele F., Callenbach Petra M.C., Hentschel Julia, Hirsch Edouard, Kind Peter C., Mignot Cyril, Platzer Konrad, Rump Patrick, Skehel Paul A., Wyllie David J.A., Hardingham Giles E., van Ravenswaaij-Arts Conny M.A., Lesca Gaetan, Lemke Johannes R., , Verbeek Nienke 1 jan 2019, In: Brain : a journal of neurology. 142 , p. 80-92 13 p.

Outcomes and comorbidities of SCN1A-related seizure disorders

de Lange Iris M, Gunning Boudewijn, Sonsma Anja C M, van Gemert Lisette, van Kempen Marjan, Verbeek Nienke E, Sinoo Claudia, Nicolai Joost, Knoers Nine V A M, Koeleman Bobby P C, Brilstra Eva H jan 2019, In: Epilepsy & Behavior. 90 , p. 252-259 8 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.

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