SETD2: an epigenetic modifier with tumor suppressor functionality

por Li, Jun, Duns, Gerben, Westers, Helga, Sijmons, Rolf, van den Berg, Anke, Kok, Klaas
Publicado 2016

Comprehensive Profiling of Primary and Metastatic ccRCC Reveals a High Homology of the Metastases to a Subregion of the Primary Tumour

por Ferronika, Paranita, Hof, Joost, Kats-Ugurlu, Gursah, Sijmons, Rolf H., Terpstra, Martijn M., de Lange, Kim, Leliveld-Kors, Annemarie, Westers, Helga, Kok, Klaas
Publicado 2019

Functional Studies on Primary Tubular Epithelial Cells Indicate a Tumor Suppressor Role of SETD2 in Clear Cell Renal Cell Carcinoma()

por Li, Jun, Kluiver, Joost, Osinga, Jan, Westers, Helga, van Werkhoven, Maaike B, Seelen, Marc A., Sijmons, Rolf H., van den Berg, Anke, Kok, Klaas
Publicado 2016

CLMP Is Essential for Intestinal Development, but Does Not Play a Key Role in Cellular Processes Involved in Intestinal Epithelial Development

por van der Werf, Christine S., Hsiao, Nai-Hua, Conroy, Siobhan, Paredes, Joana, Ribeiro, Ana S., Sribudiani, Yunia, Seruca, Raquel, Hofstra, Robert M. W., Westers, Helga, van IJzendoorn, Sven C. D.
Publicado 2013

Validation of New Gene Variant Classification Methods: a Field-Test in Diagnostic Cardiogenetics

por Alimohamed, Mohamed Z., Westers, Helga, Vos, Yvonne J., Van der Velde, K. Joeri, Sijmons, Rolf H., Van der Zwaag, Paul A., Sikkema-Raddatz, Birgit, Jongbloed, Jan D. H.
Publicado 2022

Copy Number Variant Analysis of Spinocerebellar Ataxia Genes in a Cohort of Dutch Patients With Cerebellar Ataxia

por Ghorbani, Fatemeh, de Boer, Eddy N., Benjamins-Stok, Marloes, Verschuuren-Bemelmans, Corien C., Knapper, Jurjen, de Boer-Bergsma, Jelkje, de Vries, Jeroen J., Sikkema-Raddatz, Birgit, Verbeek, Dineke S., Westers, Helga, van Diemen, Cleo C.
Publicado 2023

Evaluation of a seven gene mutational profile as a prognostic factor in a population-based study of clear cell renal cell carcinoma

por van de Pol, Jeroen A. A., Ferronika, Paranita, Westers, Helga, van Engeland, Manon, Terpstra, Martijn M., Smits, Kim M., de Lange, Kim, van den Brandt, Piet A., Sijmons, Rolf H., Schouten, Leo J., Kok, Klaas
Publicado 2022

Functional investigation of two simultaneous or separately segregating DSP variants within a single family supports the theory of a dose‐dependent disease severity

por Vermeer, Mathilde C. S. C., Andrei, Daniela, Kramer, Duco, Nijenhuis, Albertine M., Hoedemaekers, Yvonne M., Westers, Helga, Jongbloed, Jan D. H., Pas, Hendri H., van den Berg, Maarten P., Silljé, Herman H. W., van der Meer, Peter, Bolling, Maria C.
Publicado 2022

Feasibility of Follow-Up Studies and Reclassification in Spinocerebellar Ataxia Gene Variants of Unknown Significance

por Ghorbani, Fatemeh, Alimohamed, Mohamed Z., Vilacha, Juliana F., Van Dijk, Krista K., De Boer-Bergsma, Jelkje, Fokkens, Michiel R., Lemmink, Henny, Sijmons, Rolf H., Sikkema-Raddatz, Birgit, Groves, Matthew R., Verschuuren-Bemelmans, Corien C., Verbeek, Dineke S., Van Diemen, Cleo C., Westers, Helga
Publicado 2022

Prevalence of intronic repeat expansions in RFC1 in Dutch patients with CANVAS and adult-onset ataxia

por Ghorbani, Fatemeh, de Boer-Bergsma, Jelkje, Verschuuren-Bemelmans, Corien C., Pennings, Maartje, de Boer, Eddy N., Kremer, Berry, Vanhoutte, Els K., de Vries, Jeroen J., van de Berg, Raymond, Kamsteeg, Erik-Jan, van Diemen, Cleo C., Westers, Helga, van de Warrenburg, Bart P., Verbeek, Dineke S.
Publicado 2022

A prospective study on rapid exome sequencing as a diagnostic test for multiple congenital anomalies on fetal ultrasound

por Corsten‐Janssen, Nicole, Bouman, Katelijne, Diphoorn, Janouk C. D., Scheper, Arjen J., Kinds, Rianne, el Mecky, Julia, Breet, Hanna, Verheij, Joke B. G. M., Suijkerbuijk, Ron, Duin, Leonie K., Manten, Gwendolyn T. R., van Langen, Irene M., Sijmons, Rolf H., Sikkema‐Raddatz, Birgit, Westers, Helga, van Diemen, Cleo C.
Publicado 2020

Correspondence: SEMA4A variation and risk of colorectal cancer

por Kinnersley, Ben, Chubb, Daniel, Dobbins, Sara E., Frampton, Matthew, Buch, Stephan, Timofeeva, Maria N., Castellví-Bel, Sergi, Farrington, Susan M., Forsti, Asta, Hampe, Jochen, Hemminki, Kari, Hofstra, Robert M. W., Northwood, Emma, Palles, Claire, Pinheiro, Manuela, Ruiz-Ponte, Clara, Schafmayer, Clemens, Teixeira, Manuel R., Westers, Helga, van Wezel, Tom, Timothy Bishop, D., Tomlinson, Ian, Dunlop, Malcolm G., Houlston, Richard S.
Publicado 2016

The MLH1 c.1852_1853delinsGC (p.K618A) Variant in Colorectal Cancer: Genetic Association Study in 18,723 Individuals

por Abulí, Anna, Bujanda, Luis, Muñoz, Jenifer, Buch, Stephan, Schafmayer, Clemens, Valeria Maiorana, Maria, Veneroni, Silvia, van Wezel, Tom, Liu, Tao, Westers, Helga, Esteban-Jurado, Clara, Ocaña, Teresa, Piqué, Josep M., Andreu, Montserrat, Jover, Rodrigo, Carracedo, Angel, Xicola, Rosa M., Llor, Xavier, Castells, Antoni, Dunlop, Malcolm, Hofstra, Robert, Lindblom, Annika, Wijnen, Juul, Peterlongo, Paolo, Hampe, Jochen, Ruiz-Ponte, Clara, Castellví-Bel, Sergi
Publicado 2014

A genome-wide association study of Hodgkin Lymphoma identifies new susceptibility loci at 2p16.1 (REL), 8q24.21, and 10p14 (GATA3)

por Enciso-Mora, Victor, Broderick, Peter, Ma, Yussanne, Jarrett, Ruth F, Hjalgrim, Henrik, Hemminki, Kari, van den Berg, Anke, Olver, Bianca, Lloyd, Amy, Dobbins, Sara E, Lightfoot, Tracy, van Leeuwen, Flora E, Försti, Asta, Diepstra, Arjan, Broeks, Annegien, Vijayakrishnan, Jayaram, Shield, Lesley, Lake, Annette, Montgomery, Dorothy, Roman, Eve, Engert, Andreas, von Strandmann, Elke Pogge, Reiners, Katrin S., Nolte, Ilja M, Smedby, Karin E, Adami, Hans-Olov, Russell, Nicola S, Glimelius, Bengt, Hamilton-Dutoit, Stephen, de Bruin, Marieke, Ryder, Lars P, Molin, Daniel, Sorensen, Karina Meden, Chang, Ellen T, Taylor, Malcolm, Cooke, Rosie, Hofstra, Robert, Westers, Helga, van Wezel, Tom, van Eijk, Ronald, Ashworth, Alan, Rostgaard, Klaus, Melbye, Mads, Swerdlow, Anthony J, Houlston, Richard S
Publicado 2010

Recurrent Coding Sequence Variation Explains Only A Small Fraction of the Genetic Architecture of Colorectal Cancer

por Timofeeva, Maria N., Kinnersley, Ben, Farrington, Susan M., Whiffin, Nicola, Palles, Claire, Svinti, Victoria, Lloyd, Amy, Gorman, Maggie, Ooi, Li-Yin, Hosking, Fay, Barclay, Ella, Zgaga, Lina, Dobbins, Sara, Martin, Lynn, Theodoratou, Evropi, Broderick, Peter, Tenesa, Albert, Smillie, Claire, Grimes, Graeme, Hayward, Caroline, Campbell, Archie, Porteous, David, Deary, Ian J., Harris, Sarah E., Northwood, Emma L., Barrett, Jennifer H., Smith, Gillian, Wolf, Roland, Forman, David, Morreau, Hans, Ruano, Dina, Tops, Carli, Wijnen, Juul, Schrumpf, Melanie, Boot, Arnoud, Vasen, Hans F A, Hes, Frederik J., van Wezel, Tom, Franke, Andre, Lieb, Wolgang, Schafmayer, Clemens, Hampe, Jochen, Buch, Stephan, Propping, Peter, Hemminki, Kari, Försti, Asta, Westers, Helga, Hofstra, Robert, Pinheiro, Manuela, Pinto, Carla, Teixeira, Manuel, Ruiz-Ponte, Clara, Fernández-Rozadilla, Ceres, Carracedo, Angel, Castells, Antoni, Castellví-Bel, Sergi, Campbell, Harry, Bishop, D. Timothy, Tomlinson, Ian P M, Dunlop, Malcolm G., Houlston, Richard S.
Publicado 2015