Wij zijn onze website aan het vernieuwen.

Ontdekt u nog een pagina die niet klopt of hebt u een goede suggestie, laat het ons dan weten via webmedia@umcutrecht.nl.

Deze website maakt gebruik van cookies

Deze website toont video’s van o.a. YouTube. Dergelijke partijen plaatsen cookies (third party cookies). Als u deze cookies niet wilt kunt u dat hier aangeven. Lees meer over het cookiebeleid.

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

  • Section genome diagnostics

Contact

Research Programs

Research Output (62)

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.

Structural genomic variation in patients with congenital dease:Evolution in variant detection and interpretation

van Binsbergen Ellen 25 jan 2019, 165 p.

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 okt 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.

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.

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,

A potential contributory role for ciliary dysfunction in the 16p11.2 600 kb BP4-BP5 pathology

Migliavacca Eugenia et al. 7 mei 2015, In: American Journal of Human Genetics. 96 , p. 784-796 13 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 22 apr 2015,

All Research Output (62)
To top