Tumorigenicity of the miR-17-92 cluster distilled

por van Haaften, Gijs, Agami, Reuven
Publicado 2010

Young adult with Cantú syndrome: dealing with a rare genetic skin disorder

por Roessler, Helen I, van Haaften, Gijs, van Haelst, Mieke M
Publicado en BMJ Case Rep (2021)

A versatile microsatellite instability reporter system in human cells

por Koole, Wouter, Schäfer, Henning S., Agami, Reuven, van Haaften, Gijs, Tijsterman, Marcel
Publicado 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 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 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 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 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 en Eur J Hum Genet (2015)

Cantu syndrome–associated SUR2 (ABCC9) mutations in distinct structural domains result in K(ATP) channel gain-of-function by differential mechanisms

por McClenaghan, Conor, Hanson, Alex, Sala-Rabanal, Monica, Roessler, Helen I., Josifova, Dragana, Grange, Dorothy K., van Haaften, Gijs, Nichols, Colin G.
Publicado en J Biol Chem (2018)

A de novo variant in the human HIST1H4J gene causes a syndrome analogous to the HIST1H4C-associated neurodevelopmental disorder

por Tessadori, Federico, Rehman, Atteeq U., Giltay, Jacques C., Xia, Fan, Streff, Haley, Duran, Karen, Bakkers, Jeroen, Lalani, Seema R., van Haaften, Gijs
Publicado en Eur J Hum Genet (2019)

Three‐dimensional facial morphology in Cantú syndrome

por Roessler, Helen I., Shields, Kathleen, Grange, Dorothy K., Knoers, Nine V.A.M., van Haaften, Gijs, Hammond, Peter, van Haelst, Mieke M.
Publicado en Am J Med Genet A (2020)

Glibenclamide and HMR1098 normalize Cantú syndrome‐associated gain‐of‐function currents

por Houtman, Marien J. C., Chen, Xingyu, Qile, Muge, Duran, Karen, van Haaften, Gijs, Stary‐Weinzinger, Anna, van der Heyden, Marcel A. G.
Publicado en J Cell Mol Med (2019)

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 en 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 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 en Hum Mutat (2014)

Glibenclamide reverses cardiovascular abnormalities of Cantu syndrome driven by K(ATP) channel overactivity

por McClenaghan, Conor, Huang, Yan, Yan, Zihan, Harter, Theresa M., Halabi, Carmen M., Chalk, Rod, Kovacs, Attila, van Haaften, Gijs, Remedi, Maria S., Nichols, Colin G.
Publicado en J Clin Invest (2020)

Effective CRISPR/Cas9-based nucleotide editing in zebrafish to model human genetic cardiovascular disorders

por Tessadori, Federico, Roessler, Helen I., Savelberg, Sanne M. C., Chocron, Sonja, Kamel, Sarah M., Duran, Karen J., van Haelst, Mieke M., van Haaften, Gijs, Bakkers, Jeroen
Publicado en Dis Model Mech (2018)

A Single Complex Agpat2 Allele in a Patient With Partial Lipodystrophy

por Broekema, Marjoleine F., Massink, Maarten P. G., De Ligt, Joep, Stigter, Edwin C. A., Monajemi, Houshang, De Ridder, Jeroen, Burgering, Boudewijn M. T., van Haaften, Gijs W., Kalkhoven, Eric
Publicado en Front Physiol (2018)

New insights in phenotype and treatment of lung disease immuno-deficiency and chromosome breakage syndrome (LICS)

por Willemse, Brigitte W. M., van der Crabben, Saskia N., Kerstjens-Frederikse, Wilhelmina S., Timens, Wim, van Montfrans, Joris M., Lindemans, Caroline A., Boelens, Jaap Jan, Hennus, Marije P., van Haaften, Gijs
Publicado en Orphanet J Rare Dis (2021)

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 en Eur J Hum Genet (2016)