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drs. ing. E. van Binsbergen

drs. ing. E. van Binsbergen

PHD Candidate - Other

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Research Output (88)

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.

Delineating SPTAN1 associated phenotypes:From isolated epilepsy to encephalopathy with progressive brain atrophy

Syrbe Steffen, Harms Frederike L., Parrini Elena, Montomoli Martino, Mütze Ulrike, Helbig Katherine L., Polster Tilman, Albrecht Beate, Bernbeck Ulrich, Van Binsbergen Ellen, Biskup Saskia, Burglen Lydie, Denecke Jonas, Heron Bénédicte, Heyne Henrike O., Hoffmann Georg F., Hornemann Frauke, Matsushige Takeshi, Matsuura Ryuki, Kato Mitsuhiro, Korenke G. Christoph, Kuechler Alma, Lämmer Constanze, Merkenschlager Andreas, Mignot Cyril, Ruf Susanne, Nakashima Mitsuko, Saitsu Hirotomo, Stamberger Hannah, Pisano Tiziana, Tohyama Jun, Weckhuysen Sarah, Werckx Wendy, Wickert Julia, Mari Francesco, Verbeek Nienke E., Møller Rikke S., Koeleman Bobby, Matsumoto Naomichi, Dobyns William B., Lemke Johannes R., Kutsche Kerstin, Battaglia Domenica, Guerrini Renzo 1 Sep 2017, In: Brain. 140 , p. 2322-2336 15 p.

De novo 14q24.2q24.3 microdeletion including IFT43 is associated with intellectual disability, skeletal anomalies, cardiac anomalies, and myopia

Stokman Marijn F, Oud Machteld M, van Binsbergen Ellen, Slaats Gisela G, Nicolaou Nayia, Renkema Kirsten Y, Nijman Isaac J , Roepman Ronald, Giles Rachel H, Arts Heleen H, Knoers Nine V A M, van Haelst Mieke M 19 Feb 2016, In: American Journal of Medical Genetics. Part A. 170 , p. 1566-1569

Defining the Effect of the 16p11.2 Duplication on Cognition, Behavior, and Medical Comorbidities

D'Angelo Debra, Lebon Sébastien, Chen Qixuan, Martin-Brevet Sandra, Snyder LeeAnne Green, Hippolyte Loyse, Hanson Ellen, Maillard Anne M, Faucett W Andrew, Macé Aurélien, Pain Aurélie, Bernier Raphael, Chawner Samuel J R A, David Albert, Andrieux Joris, Aylward Elizabeth, Baujat Genevieve, Caldeira Ines, Conus Philippe, Ferrari Carrina, Forzano Francesca, Gérard Marion, Goin-Kochel Robin P, Grant Ellen, Hunter Jill V, Isidor Bertrand, Jacquette Aurélia, Jønch Aia E, Keren Boris, Lacombe Didier, Le Caignec Cédric, Martin Christa Lese, Männik Katrin, Metspalu Andres, Mignot Cyril, Mukherjee Pratik, Owen Michael J, Passeggeri Marzia, Rooryck-Thambo Caroline, Rosenfeld Jill A, Spence Sarah J, Steinman Kyle J, Tjernagel Jennifer, Van Haelst Mieke, Shen Yiping, Draganski Bogdan, Sherr Elliott H, Ledbetter David H, van den Bree Marianne B M, , van Binsbergen E 1 Jan 2016, In: JAMA Psychiatry. 73 , p. 20-30 11 p.

De Novo Mutations of RERE Cause a Genetic Syndrome with Features that Overlap Those Associated with Proximal 1p36 Deletions

Fregeau Brieana, Kim Bum Jun, Hernández-García Andrés, Jordan Valerie K, Cho Megan T, Schnur Rhonda E, Monaghan Kristin G, Juusola Jane, Rosenfeld Jill A, Bhoj Elizabeth, Zackai Elaine H, Sacharow Stephanie, Barañano Kristin, Bosch Daniëlle G M, de Vries Bert B A, Lindstrom Kristin, Schroeder Audrey, James Philip, Kulch Peggy, Lalani Seema R, van Haelst Mieke M, van Gassen Koen L I, van Binsbergen Ellen, Barkovich A James, Scott Daryl A, Sherr Elliott H 2016, In: American Journal of Human Genetics. 98 , p. 963-970 8 p.

Mutations in SPATA5 Are Associated with Microcephaly, Intellectual Disability, Seizures, and Hearing Loss

Tanaka Akemi J., Cho Megan T., Millan Francisca, Juusola Jane, Retterer Kyle, Joshi Charuta, Niyazov Dmitriy, Garnica Adolfo, Gratz Edward, Deardorff Matthew, Wilkins Alisha, Ortiz-Gonzalez Xilma, Mathews Katherine, Panzer Karin, Brilstra Eva, Van Gassen Koen L I, Volker-Touw Catharina M L, van Binsbergen Ellen, Sobreira Nara, Hamosh Ada, McKnight Dianalee, Monaghan Kristin G., Chung Wendy K. 3 Sep 2015, In: American Journal of Human Genetics. 97 , p. 457-464 8 p.

Chromothripsis in healthy individuals affects multiple protein-coding genes and can result in severe congenital abnormalities in offspring

de Pagter MS, van Roosmalen Markus J., Baas AF, Renkens Ivo, Duran KJ, van Binsbergen E, Tavakoli-Yaraki Masoumeh, Hochstenbach PFR, van der Veken LTJN, Cuppen EPJG, Kloosterman WP 8 Jun 2015,

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