Tumorigenicity of the miR-17-92 cluster distilled

Por van Haaften, Gijs, Agami, Reuven
Publicado em 2010

A versatile microsatellite instability reporter system in human cells

Por Koole, Wouter, Schäfer, Henning S., Agami, Reuven, van Haaften, Gijs, Tijsterman, Marcel
Publicado em 2013

Gene interactions in the DNA damage-response pathway identified by genome-wide RNA-interference analysis of synthetic lethality

Por van Haaften, Gijs, Vastenhouw, Nadine L., Nollen, Ellen A. A., Plasterk, Ronald H. A., Tijsterman, Marcel
Publicado em 2004

E2F mediates enhanced alternative polyadenylation in proliferation

Por Elkon, Ran, Drost, Jarno, van Haaften, Gijs, Jenal, Mathias, Schrier, Mariette, Oude Vrielink, Joachim AF, Agami, Reuven
Publicado em 2012

Identification of genes that protect the C. elegans genome against mutations by genome-wide RNAi

Por Pothof, Joris, van Haaften, Gijs, Thijssen, Karen, Kamath, Ravi S., Fraser, Andrew G., Ahringer, Julie, Plasterk, Ronald H.A., Tijsterman, Marcel
Publicado em 2003

Genome-wide RNA interference screen identifies previously undescribed regulators of polyglutamine aggregation

Por Nollen, Ellen A. A., Garcia, Susana M., van Haaften, Gijs, Kim, Soojin, Chavez, Alejandro, Morimoto, Richard I., Plasterk, Ronald H. A.
Publicado em 2004

Further confirmation of the MED13L haploinsufficiency syndrome

Por van Haelst, Mieke M, Monroe, Glen R, Duran, Karen, van Binsbergen, Ellen, Breur, Johannes M, Giltay, Jacques C, van Haaften, Gijs
Publicado no Eur J Hum Genet (2015)

Clinical utility gene card for: Cantú syndrome

Por Kirk, Edwin P, Scurr, Ingrid, van Haaften, Gijs, van Haelst, Mieke M, Nichols, Colin G, Williams, Maggie, Smithson, Sarah F, Grange, Dorothy K
Publicado no Eur J Hum Genet (2017)

RAP-1 and the RAL-1/exocyst pathway coordinate hypodermal cell organization in Caenorhabditis elegans

Por Frische, Ester W, Pellis-van Berkel, Wendy, van Haaften, Gijs, Cuppen, Edwin, Plasterk, Ronald H A, Tijsterman, Marcel, Bos, Johannes L, Zwartkruis, Fried J T
Publicado em 2007

Cantú Syndrome Resulting from Activating Mutation in the KCNJ8 Gene

Por Cooper, Paige E., Reutter, Heiko, Woelfle, Joachim, Engels, Hartmut, Grange, Dorothy K., van Haaften, Gijs, van Bon, Bregje W., Hoischen, Alexander, Nichols, Colin G.
Publicado no Hum Mutat (2014)

Mosaic CREBBP mutation causes overlapping clinical features of Rubinstein–Taybi and Filippi syndromes

Por de Vries, Tamar I, R Monroe, Glen, van Belzen, Martine J, van der Lans, Christian A, Savelberg, Sanne MC, Newman, William G, van Haaften, Gijs, Nievelstein, Rutger A, van Haelst, Mieke M
Publicado no Eur J Hum Genet (2016)

Loss-of-Function Mutations in the WNT Co-receptor LRP6 Cause Autosomal-Dominant Oligodontia

Por Massink, Maarten P.G., Créton, Marijn A., Spanevello, Francesca, Fennis, Willem M.M., Cune, Marco S., Savelberg, Sanne M.C., Nijman, Isaäc J., Maurice, Madelon M., van den Boogaard, Marie-José H., van Haaften, Gijs
Publicado no Am J Hum Genet (2015)

PA-6 inhibits inward rectifier currents carried by V93I and D172N gain-of-function K(IR)2.1 channels, but increases channel protein expression

Por Ji, Yuan, Veldhuis, Marlieke G., Zandvoort, Jantien, Romunde, Fee L., Houtman, Marien J. C., Duran, Karen, van Haaften, Gijs, Zangerl-Plessl, Eva-Maria, Takanari, Hiroki, Stary-Weinzinger, Anna, van der Heyden, Marcel A. G.
Publicado no J Biomed Sci (2017)

Joubert syndrome: genotyping a Northern European patient cohort

Por Kroes, Hester Y, Monroe, Glen R, van der Zwaag, Bert, Duran, Karen J, de Kovel, Carolien G, van Roosmalen, Mark J, Harakalova, Magdalena, Nijman, Ies J, Kloosterman, Wigard P, Giles, Rachel H, Knoers, Nine VAM, van Haaften, Gijs
Publicado no Eur J Hum Genet (2016)

Germline mutations in RYR1 are associated with foetal akinesia deformation sequence/lethal multiple pterygium syndrome

Por McKie, Arthur B, Alsaedi, Atif, Vogt, Julie, Stuurman, Kyra E, Weiss, Marjan M, Shakeel, Hassan, Tee, Louise, Morgan, Neil V, Nikkels, Peter G J, van Haaften, Gijs, Park, Soo-Mi, van der Smagt, Jasper J, Bugiani, Marianna, Maher, Eamonn R
Publicado no Acta Neuropathol Commun (2014)

Effect of vertical sleeve gastrectomy in melanocortin receptor 4-deficient rats

Por Mul, Joram D., Begg, Denovan P., Alsters, Suzanne I. M., van Haaften, Gijs, Duran, Karen J., D'Alessio, David A., le Roux, Carel W., Woods, Stephen C., Sandoval, Darleen A., Blakemore, Alexandra I. F., Cuppen, Edwin, van Haelst, Mieke M., Seeley, Randy J.
Publicado em 2012

Compound heterozygous NEK1 variants in two siblings with oral-facial-digital syndrome type II (Mohr syndrome)

Por Monroe, Glen R, Kappen, Isabelle FPM, Stokman, Marijn F, Terhal, Paulien A, van den Boogaard, Marie-José H, Savelberg, Sanne MC, van der Veken, Lars T, van Es, Robert JJ, Lens, Susanne M, Hengeveld, Rutger C, Creton, Marijn A, Janssen, Nard G, Mink van der Molen, Aebele B, Ebbeling, Michelle B, Giles, Rachel H, Knoers, Nine V, van Haaften, Gijs
Publicado no Eur J Hum Genet (2016)

De Novo Mutations in CHD4, an ATP-Dependent Chromatin Remodeler Gene, Cause an Intellectual Disability Syndrome with Distinctive Dysmorphisms

Por Weiss, Karin, Terhal, Paulien A., Cohen, Lior, Bruccoleri, Michael, Irving, Melita, Martinez, Ariel F., Rosenfeld, Jill A., Machol, Keren, Yang, Yaping, Liu, Pengfei, Walkiewicz, Magdalena, Beuten, Joke, Gomez-Ospina, Natalia, Haude, Katrina, Fong, Chin-To, Enns, Gregory M., Bernstein, Jonathan A., Fan, Judith, Gotway, Garrett, Ghorbani, Mohammad, van Gassen, Koen, Monroe, Glen R., van Haaften, Gijs, Basel-Vanagaite, Lina, Yang, Xiang-Jiao, Campeau, Philippe M., Muenke, Maximilian
Publicado no Am J Hum Genet (2016)

Synaptic UNC13A protein variant causes increased neurotransmission and dyskinetic movement disorder

Por Lipstein, Noa, Verhoeven-Duif, Nanda M., Michelassi, Francesco E., Calloway, Nathaniel, van Hasselt, Peter M., Pienkowska, Katarzyna, van Haaften, Gijs, van Haelst, Mieke M., van Empelen, Ron, Cuppen, Inge, van Teeseling, Heleen C., Evelein, Annemieke M.V., Vorstman, Jacob A., Thoms, Sven, Jahn, Olaf, Duran, Karen J., Monroe, Glen R., Ryan, Timothy A., Taschenberger, Holger, Dittman, Jeremy S., Rhee, Jeong-Seop, Visser, Gepke, Jans, Judith J., Brose, Nils
Publicado no J Clin Invest (2017)

Further delineation of the KBG syndrome phenotype caused by ANKRD11 aberrations

Por Ockeloen, Charlotte W, Willemsen, Marjolein H, de Munnik, Sonja, van Bon, Bregje WM, de Leeuw, Nicole, Verrips, Aad, Kant, Sarina G, Jones, Elizabeth A, Brunner, Han G, van Loon, Rosa LE, Smeets, Eric EJ, van Haelst, Mieke M, van Haaften, Gijs, Nordgren, Ann, Malmgren, Helena, Grigelioniene, Giedre, Vermeer, Sascha, Louro, Pedro, Ramos, Lina, Maal, Thomas JJ, van Heumen, Celeste C, Yntema, Helger G, Carels, Carine EL, Kleefstra, Tjitske
Publicado no Eur J Hum Genet (2015)