Back

dr. E.H. Brilstra

Assistant Professor - medical

  • Section Clinical Genetics

Research Output (118)

Implications of genetic diagnostics in epilepsy surgery candidates:A single-center cohort study

Sanders Maurits W.C.B., Lemmens Cynthia M.C., Jansen Floor E., Brilstra Eva H., Koeleman Bobby P.C., Braun Kees P.J., dec 2019, In: Epilepsia Open. 4 , p. 609-617 9 p.

CTCF variants in 39 individuals with a variable neurodevelopmental disorder broaden the mutational and clinical spectrum

Konrad Enrico D.H., Nardini Niels, Caliebe Almuth, Nagel Inga, Young Dana, Horvath Gabriella, Santoro Stephanie L., Shuss Christine, Ziegler Alban, Bonneau Dominique, Kempers Marlies, Pfundt Rolph, Legius Eric, Bouman Arjan, Stuurman Kyra E., Õunap Katrin, Pajusalu Sander, Wojcik Monica H., Vasileiou Georgia, Le Guyader Gwenaël, Schnelle Hege M., Berland Siren, Zonneveld-Huijssoon Evelien, Kersten Simone, Gupta Aditi, Blackburn Patrick R., Ellingson Marissa S., Ferber Matthew J., Dhamija Radhika, Klee Eric W., McEntagart Meriel, Lichtenbelt Klaske D., Kenney Amy, Vergano Samantha A., Abou Jamra Rami, Platzer Konrad, Ella Pierpont Mary, Khattar Divya, Hopkin Robert J., Martin Richard J., Jongmans Marjolijn C.J., Chang Vivian Y., Martinez-Agosto Julian A., Kuismin Outi, Kurki Mitja I., Pietiläinen Olli, Palotie Aarno, Maarup Timothy J., Johnson Diana S., Brilstra Eva H., dec 2019, In: Genetics in Medicine. 21 , p. 2723-2733 11 p.

Correction:Correction: The landscape of epilepsy-related GATOR1 variants (Genetics in medicine : official journal of the American College of Medical Genetics (2019) 21 2 (398-408))

Baldassari Sara et al. 1 aug 2019, In: Genetics in medicine : official journal of the American College of Medical Genetics. 21 , p. 1896 1 p.

Influence of common SCN1A promoter variants on the severity of SCN1A-related phenotypes

de Lange Iris M., Weuring Wout, van ‘t Slot Ruben, Gunning Boudewijn, Sonsma Anja C.M., McCormack Mark, de Kovel Carolien, van Gemert Lisette J.J.M., Mulder Flip, van Kempen Marjan J.A., Knoers Nine V.A.M., Brilstra Eva H., Koeleman Bobby P.C. 1 jul 2019, In: Molecular Genetics and Genomic Medicine. 7

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.