Characterization of COMMD protein–protein interactions in NF-κB signalling

Por de Bie, Prim, van de Sluis, Bart, Burstein, Ezra, Duran, Karen J., Berger, Ruud, Duckett, Colin S., Wijmenga, Cisca, Klomp, Leo W. J.
Publicado em 2006

Chromothripsis in Healthy Individuals Affects Multiple Protein-Coding Genes and Can Result in Severe Congenital Abnormalities in Offspring

Por de Pagter, Mirjam S., van Roosmalen, Markus J., Baas, Annette F., Renkens, Ivo, Duran, Karen J., van Binsbergen, Ellen, Tavakoli-Yaraki, Masoumeh, Hochstenbach, Ron, van der Veken, Lars T., Cuppen, Edwin, Kloosterman, Wigard P.
Publicado no Am J Hum Genet (2015)

Discovery of variants unmasked by hemizygous deletions

Por Hochstenbach, Ron, Poot, Martin, Nijman, Isaac J, Renkens, Ivo, Duran, Karen J, van'T Slot, Ruben, van Binsbergen, Ellen, van der Zwaag, Bert, Vogel, Maartje J, Terhal, Paulien A, Ploos van Amstel, Hans Kristian, Kloosterman, Wigard P, Cuppen, Edwin
Publicado em 2012

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)

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

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)

MKS1 regulates ciliary INPP5E levels in Joubert syndrome

Por Slaats, Gisela G., Isabella, Christine R., Kroes, Hester Y., Dempsey, Jennifer C., Gremmels, Hendrik, Monroe, Glen R., Phelps, Ian G., Duran, Karen J., Adkins, Jonathan, Kumar, Sairam A., Knutzen, Dana M., Knoers, Nine V., Mendelsohn, Nancy J., Neubauer, David, Mastroyianni, Sotiria D., Vogt, Julie, Worgan, Lisa, Karp, Natalya, Bowdin, Sarah, Glass, Ian A., Parisi, Melissa A., Otto, Edgar A., Johnson, Colin A., Hildebrandt, Friedhelm, van Haaften, Gijs, Giles, Rachel H., Doherty, Dan
Publicado no J Med Genet (2015)