Functional Characterization of PALB2 Variants of Uncertain Significance: Toward Cancer Risk and Therapy Response Prediction

od Boonen, Rick A. C. M., Vreeswijk, Maaike P. G., van Attikum, Haico
izdano v Front Mol Biosci (2020)

BRCA2 Heterozygosity Delays Cytokinesis in Primary Human Fibroblasts

od Jonsdottir, Asta Björk, Vreeswijk, Maaike P. G., Wolterbeek, Ron, Devilee, Peter, Tanke, Hans J., Eyfjörd, Jorunn E., Szuhai, Karoly
izdano v Cell Oncol (2009)

Correction: Alternative mRNA splicing can attenuate the pathogenicity of presumed loss-of-function variants in BRCA2

od Mesman, Romy L. S., Calléja, Fabienne M. G. R., de la Hoya, Miguel, Devilee, Peter, van Asperen, Christi J., Vrieling, Harry, Vreeswijk, Maaike P. G.
izdano v Genet Med (2020)

Alternative mRNA splicing can attenuate the pathogenicity of presumed loss-of-function variants in BRCA2

od Mesman, Romy L. S., Calléja, Fabienne M. G. R., de la Hoya, Miguel, Devilee, Peter, van Asperen, Christi J., Vrieling, Harry, Vreeswijk, Maaike P. G.
izdano v Genet Med (2020)

An efficient pipeline for the generation and functional analysis of human BRCA2 variants of uncertain significance.

od Hendriks, Giel, Morolli, Bruno, Calléja, Fabienne M.G.R., Plomp, Anouk, Mesman, Romy L.S., Meijers, Matty, Sharan, Shyam K., Vreeswijk, Maaike P.G., Vrieling, Harry
izdano v Hum Mutat (2014)

The functional impact of variants of uncertain significance in BRCA2

od Mesman, Romy L. S., Calléja, Fabienne M. G. R., Hendriks, Giel, Morolli, Bruno, Misovic, Branislav, Devilee, Peter, van Asperen, Christi J., Vrieling, Harry, Vreeswijk, Maaike P. G.
izdano v Genet Med (2018)

Functional assays for analysis of variants of uncertain significance in BRCA2

od Guidugli, Lucia, Carreira, Aura, Caputo, Sandrine M., Ehlen, Asa, Galli, Alvaro, Monteiro, Alvaro N.A., Neuhausen, Susan L., Hansen, Thomas V.O., Couch, Fergus J., Vreeswijk, Maaike P.G.
Izdano 2013

Restoration of Nucleotide Excision Repair in a Helicase-Deficient XPD Mutant from Intragenic Suppression by a Trichothiodystrophy Mutation

od George, James W., Salazar, Edmund P., Vreeswijk, Maaike P. G., Lamerdin, Jane E., Reardon, Joyce T., Zdzienicka, Malgorzata Z., Sancar, Aziz, Kadkhodayan, Saloumeh, Tebbs, Robert S., Mullenders, Leon H. F., Thompson, Larry H.
Izdano 2001

Tumor slice culture system to assess drug response of primary breast cancer

od Naipal, Kishan A. T., Verkaik, Nicole S., Sánchez, Humberto, van Deurzen, Carolien H. M., den Bakker, Michael A., Hoeijmakers, Jan H.J., Kanaar, Roland, Vreeswijk, Maaike P.G., Jager, Agnes, van Gent, Dik C.
izdano v BMC Cancer (2016)

Variants of uncertain clinical significance in hereditary breast and ovarian cancer genes: best practices in functional analysis for clinical annotation

od Monteiro, Alvaro N., Bouwman, Peter, Kousholt, Arne Nedergaard, Eccles, Diana M., Millot, Gael A., Masson, Jean-Yves, Schmidt, Marjanka K., Sharan, Shyam K., Scully, Ralph, Wiesmüller, Lisa, Couch, Fergus J., Vreeswijk, Maaike P.G.
izdano v J Med Genet (2020)

The RAD51-FFPE Test; Calibration of a Functional Homologous Recombination Deficiency Test on Diagnostic Endometrial and Ovarian Tumor Blocks

od van Wijk, Lise M., Kramer, Claire J. H., Vermeulen, Sylvia, ter Haar, Natalja T., de Jonge, Marthe M., Kroep, Judith R., de Kroon, Cor D., Gaarenstroom, Katja N., Vrieling, Harry, Bosse, Tjalling, Vreeswijk, Maaike P. G.
izdano v Cancers (Basel) (2021)

Functional analysis of genetic variants in the high-risk breast cancer susceptibility gene PALB2

od Boonen, Rick A. C. M., Rodrigue, Amélie, Stoepker, Chantal, Wiegant, Wouter W., Vroling, Bas, Sharma, Milan, Rother, Magdalena B., Celosse, Nandi, Vreeswijk, Maaike P. G., Couch, Fergus, Simard, Jacques, Devilee, Peter, Masson, Jean-Yves, van Attikum, Haico
izdano v Nat Commun (2019)

RAD51D Aberrant Splicing in Breast Cancer: Identification of Splicing Regulatory Elements and Minigene-Based Evaluation of 53 DNA Variants

od Bueno-Martínez, Elena, Sanoguera-Miralles, Lara, Valenzuela-Palomo, Alberto, Lorca, Víctor, Gómez-Sanz, Alicia, Carvalho, Sara, Allen, Jamie, Infante, Mar, Pérez-Segura, Pedro, Lázaro, Conxi, Easton, Douglas F., Devilee, Peter, Vreeswijk, Maaike P. G., de la Hoya, Miguel, Velasco, Eladio A.
izdano v Cancers (Basel) (2021)

A Guide for Functional Analysis of BRCA1 Variants of Uncertain Significance (VUS)

od Millot, Gaël, Carvalho, Marcelo A., Caputo, Sandrine M, Vreeswijk, Maaike P.G., Brown, Melissa A, Webb, Michelle, Rouleau, Etienne, Neuhausen, Susan L., Hansen, Thomas v. O., Galli, Alvaro, Brandão, Rita D, Blok, Marinus J., Velkova, Aneliya, Couch, Fergus J., Monteiro, Alvaro N.A.
Izdano 2012

The RECAP Test Rapidly and Reliably Identifies Homologous Recombination-Deficient Ovarian Carcinomas

od van Wijk, Lise M., Vermeulen, Sylvia, Meijers, Matty, van Diest, Manuela F., ter Haar, Natalja T., de Jonge, Marthe M., Solleveld-Westerink, Nienke, van Wezel, Tom, van Gent, Dik C., Kroep, Judith R., Bosse, Tjalling, Gaarenstroom, Katja N., Vrieling, Harry, Vreeswijk, Maaike P. G.
izdano v Cancers (Basel) (2020)

Comprehensive Functional Characterization and Clinical Interpretation of 20 Splice-Site Variants of the RAD51C Gene

od Sanoguera-Miralles, Lara, Valenzuela-Palomo, Alberto, Bueno-Martínez, Elena, Llovet, Patricia, Díez-Gómez, Beatriz, Caloca, María José, Pérez-Segura, Pedro, Fraile-Bethencourt, Eugenia, Colmena, Marta, Carvalho, Sara, Allen, Jamie, Easton, Douglas F., Devilee, Peter, Vreeswijk, Maaike P. G., de la Hoya, Miguel, Velasco, Eladio A.
izdano v Cancers (Basel) (2020)

Mutations in SLC29A3, Encoding an Equilibrative Nucleoside Transporter ENT3, Cause a Familial Histiocytosis Syndrome (Faisalabad Histiocytosis) and Familial Rosai-Dorfman Disease

od Morgan, Neil V., Morris, Mark R., Cangul, Hakan, Gleeson, Diane, Straatman-Iwanowska, Anna, Davies, Nicholas, Keenan, Stephen, Pasha, Shanaz, Rahman, Fatimah, Gentle, Dean, Vreeswijk, Maaike P. G., Devilee, Peter, Knowles, Margaret A., Ceylaner, Serdar, Trembath, Richard C., Dalence, Carlos, Kismet, Erol, Köseoğlu, Vedat, Rossbach, Hans-Christoph, Gissen, Paul, Tannahill, David, Maher, Eamonn R.
Izdano 2010

Fasting mimicking diet as an adjunct to neoadjuvant chemotherapy for breast cancer in the multicentre randomized phase 2 DIRECT trial

od de Groot, Stefanie, Lugtenberg, Rieneke T., Cohen, Danielle, Welters, Marij J. P., Ehsan, Ilina, Vreeswijk, Maaike P. G., Smit, Vincent T. H. B. M., de Graaf, Hiltje, Heijns, Joan B., Portielje, Johanneke E. A., van de Wouw, Agnes J., Imholz, Alex L. T., Kessels, Lonneke W., Vrijaldenhoven, Suzan, Baars, Arnold, Kranenbarg, Elma Meershoek-Klein, Carpentier, Marjolijn Duijm-de, Putter, Hein, van der Hoeven, Jacobus J. M., Nortier, Johan W. R., Longo, Valter D., Pijl, Hanno, Kroep, Judith R.
izdano v Nat Commun (2020)

BRCA1 Circos: a visualisation resource for functional analysis of missense variants

od Jhuraney, Ankita, Velkova, Aneliya, Johnson, Randall C, Kessing, Bailey, Carvalho, Renato S, Whiley, Phillip, Spurdle, Amanda B, Vreeswijk, Maaike P G, Caputo, Sandrine M, Millot, Gael A, Vega, Ana, Coquelle, Nicolas, Galli, Alvaro, Eccles, Diana, Blok, Marinus J, Pal, Tuya, van der Luijt, Rob B, Santamariña Pena, Marta, Neuhausen, Susan L, Donenberg, Talia, Machackova, Eva, Thomas, Simon, Vallée, Maxime, Couch, Fergus J, Tavtigian, Sean V, Glover, J N Mark, Carvalho, Marcelo A, Brody, Lawrence C, Sharan, Shyam K, Monteiro, Alvaro N
izdano v J Med Genet (2015)

Alternative splicing and ACMG-AMP-2015-based classification of PALB2 genetic variants: an ENIGMA report

od Lopez-Perolio, Irene, Leman, Raphaël, Behar, Raquel, Lattimore, Vanessa, Pearson, John F, Castéra, Laurent, Martins, Alexandra, Vaur, Dominique, Goardon, Nicolas, Davy, Grégoire, Garre, Pilar, García-Barberán, Vanesa, Llovet, Patricia, Pérez-Segura, Pedro, Díaz-Rubio, Eduardo, Caldés, Trinidad, Hruska, Kathleen S, Hsuan, Vickie, Wu, Sitao, Pesaran, Tina, Karam, Rachid, Vallon-Christersson, Johan, Borg, Ake, Investigators, kConFab, Valenzuela-Palomo, Alberto, Velasco, Eladio A, Southey, Melissa, Vreeswijk, Maaike P G, Devilee, Peter, Kvist, Anders, Spurdle, Amanda B, Walker, Logan C, Krieger, Sophie, de la Hoya, Miguel
izdano v J Med Genet (2019)