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drs. ing. E. van Binsbergen PHD Candidate - Other

  • Section genome diagnostics

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Research Output (76)

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 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.

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.

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

All Research Output (76)
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