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drs. ing. E. van Binsbergen

drs. ing. E. van Binsbergen

PHD Candidate - Other
  • Section genome diagnostics

Research Programs

Child Health

Research Output (81)

CSNK2B:A broad spectrum of neurodevelopmental disability and epilepsy severity

Ernst Michelle E, Baugh Evan H, Thomas Amanda, Bier Louise, Lippa Natalie, Stong Nicholas, Mulhern Maureen S, Kushary Sulagna, Akman Cigdem I, Heinzen Erin L, Yeh Raymond, Bi Weimin, Hanchard Neil A, Burrage Lindsay C, Leduc Magalie S, Chong Josephine S C, Bend Renee, Lyons Michael J, Lee Jennifer A, Suwannarat Pim, Brilstra Eva, Simon Marleen, Koopmans Marije, van Binsbergen Ellen, Groepper Daniel, Fleischer Julie, Nava Caroline, Keren Boris, Mignot Cyril, Mathieu Sophie, Mancini Grazia M S, Madan-Khetarpal Suneeta, Infante Elena M, Bluvstein Judith, Seeley Andrea, Bachman Kristine, Klee Eric W, Schultz-Rogers Laura E, Hasadsri Linda, Barnett Sarah, Ellingson Marissa S, Ferber Matthew J, Narayanan Vinodh, Ramsey Keri, Rauch Anita, Joset Pascal, Steindl Katharina, Sheehan Theodore, Poduri Annapurna, Vasquez Alejandra, Ruivenkamp Claudia, White Susan M, Pais Lynn, Monaghan Kristin G, Goldstein David B, Sands Tristan T, Aggarwal Vimla jul 2021, In: Epilepsia. 62 , p. e103-e109

Disruption of RFX family transcription factors causes autism, attention-deficit/hyperactivity disorder, intellectual disability, and dysregulated behavior

Harris Holly K et al. jun 2021, In: Genetics in medicine : official journal of the American College of Medical Genetics. 23 , p. 1028-1040 13 p.

De novo variants in POLR3B cause ataxia, spasticity, and demyelinating neuropathy

Djordjevic Djurdja, Pinard Maxime, Gauthier Marie-Soleil, Smith-Hicks Constance, Hoffman Trevor L, Wolf Nicole I, Oegema Renske, van Binsbergen Ellen, Baskin Berivan, Bernard Geneviève, Fribourg Sébastien, Coulombe Benoit, Yoon Grace 7 jan 2021, In: American Journal of Human Genetics. 108 , p. 186-193 8 p.

Prioritization of genes driving congenital phenotypes of patients with de novo genomic structural variants

Middelkamp Sjors, Vlaar Judith M, Giltay Jacques, Korzelius Jerome, Besselink Nicolle, Boymans Sander, Janssen Roel, de la Fonteijne Lisanne, van Binsbergen Ellen, van Roosmalen Markus J, Hochstenbach Ron, Giachino Daniela, Talkowski Michael E, Kloosterman Wigard P, Cuppen Edwin 4 dec 2019, In: Genome Medicine. 11

De novo and inherited variants in ZNF292 underlie a neurodevelopmental disorder with features of autism spectrum disorder

Mirzaa Ghayda M, Chong Jessica X, Piton Amélie, Popp Bernt, Foss Kimberly, Guo Hui, Harripaul Ricardo, Xia Kun, Scheck Joshua, Aldinger Kimberly A, Sajan Samin A, Tang Sha, Bonneau Dominique, Beck Anita, White Janson, Mahida Sonal, Harris Jacqueline, Smith-Hicks Constance, Hoyer Juliane, Zweier Christiane, Reis André, Thiel Christian T, Jamra Rami Abou, Zeid Natasha, Yang Amy, Farach Laura S, Walsh Laurence, Payne Katelyn, Rohena Luis, Velinov Milen, Ziegler Alban, Schaefer Elise, Gatinois Vincent, Geneviève David, Simon Marleen E H, Kohler Jennefer, Rotenberg Joshua, Wheeler Patricia, Larson Austin, Ernst Michelle E, Akman Cigdem I, Westman Rachel, Blanchet Patricia, Schillaci Lori-Anne, Vincent-Delorme Catherine, Gripp Karen W, Mattioli Francesca, Guyader Gwenaël Le, Gerard Bénédicte, van Binsbergen Ellen, 14 nov 2019, In: Genetics in medicine : official journal of the American College of Medical Genetics. 22 , p. 538-546 9 p.

De Novo Missense Variants in FBXW11 Cause Diverse Developmental Phenotypes Including Brain, Eye, and Digit Anomalies

Holt Richard J., Young Rodrigo M., Crespo Berta, Ceroni Fabiola, Curry Cynthia J., Bellacchio Emanuele, Bax Dorine A., Ciolfi Andrea, Simon Marleen, Fagerberg Christina R., van Binsbergen Ellen, De Luca Alessandro, Memo Luigi, Dobyns William B., Mohammed Alaa Afif, Clokie Samuel J.H., Zazo Seco Celia, Jiang Yong Hui, Sørensen Kristina P., Andersen Helle, Sullivan Jennifer, Powis Zöe, Chassevent Anna, Smith-Hicks Constance, Petrovski Slavé, Antoniadi Thalia, Shashi Vandana, Gelb Bruce D., Wilson Stephen W., Gerrelli Dianne, Tartaglia Marco, Chassaing Nicolas, Calvas Patrick, Ragge Nicola K. 5 sep 2019, In: American Journal of Human Genetics. 105 , p. 640-657 18 p.

Deletions and loss-of-function variants in TP63 associated with orofacial clefting

Khandelwal Kriti D., van den Boogaard Marie José H., Mehrem Sarah L., Gebel Jakob, Fagerberg Christina, van Beusekom Ellen, van Binsbergen Ellen, Topaloglu Ozan, Steehouwer Marloes, Gilissen Christian, Ishorst Nina, van Rooij Iris A.L.M., Roeleveld Nel, Christensen Kaare, Schoenaers Joseph, Bergé Stefaan, Murray Jeffrey C., Hens Greet, Devriendt Koen, Ludwig Kerstin U., Mangold Elisabeth, Hoischen Alexander, Zhou Huiqing, Dötsch Volker, Carels Carine E.L., van Bokhoven Hans 1 jul 2019, In: European Journal of Human Genetics. 27 , p. 1101-1112 12 p.

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.

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