2022

Carvalhal S, Bader I, Rooimans M.A., Oostra A.B., Balk J.A., Feichtinger R.G., Beichler C., Speicher M.R., van Hagen J.M., Waisfisz Q., van Haelst M., Bruijn M., Tavares A., Mayr J.A., Wolthuis R.M.F., Oliveira R.A., de Lange J. (2022) Biallelic BUB1 mutations cause microcephaly, developmental delay and variable effects on cohesion and chromosome segregation. Sci Adv;8(3) eabk0114

Roohollahi, K., de Jong, Y., Pai, G., Zaini, A.M., de Lint, K., Sie, D., Rooimans, M.A., Rockx, D., Hoskins, E.E., Ameziane, N., Wolthuis, R., Joenje, H., Wells, S.I., Dorsman, J. (2022) BIRC2-BIRC3 amplification: a potentialle druggable feature of a subset of head and neck cancers in patients with Fanconi anemia. Sci Rep 7;12(1):45

2021

Apelt K, White SM, Kim HS, Yeo JE, Kragten A, Wondergem AP, Rooimans MA, Gonzalez-Prieto R, Wiegant WW, Lunke S, Flanagan D, Pantaleo S, Quinlan C, Hardikar W, van Attikum H, Vertegaal ACO, Wilson BT, Wolthuis RMF, Scharer OD, Luijsterburg MS (2021) ERCC1 mutations impede DNA damage repair and cause liver and kidney dysfunction in patients. J Exp Med 218

Bottega R, Ravera S, Napolitano LMR, Chiappetta V, Zini N, Crescenzi B, Arniani S, Faleschini M, Cortone G, Faletra F, Medagli B, Sirchia F, Moretti M, de Lange J, Cappelli E, Mecucci C, Onesti S, Pisani FM, Savoia A (2021) Genomic integrity and mitochondrial metabolism defects in Warsaw syndrome cells: a comparison with Fanconi anemia. J Cell Physiol 236:5664-5675

Cardoso da Silva R, Vader G. (2021) Getting there: understanding the chromosomal recruitment of the AAA+ ATPase Pch2/TRIP13 during meiosis. Curr Genet 67:553-565

Glykofridis IE, Knol JC, Balk JA, Westland D, Pham TV, Piersma SR, Lougheed SM, Derakhshan S, Veen P, Rooimans MA, van Mil SE, Bottger F, Poddighe PJ, van de Beek I, Drost J, Zwartkruis FJ, de Menezes RX, Meijers-Heijboer HE, Houweling AC, Jimenez CR, Wolthuis RM. (2021) Loss of FLCN-FNIP1/2 induces a non-canonical interferon response in human renal tubular epithelial cells. Elife, 10:e61630

Rousova, D., Nivsarkar, V., Altmannova, V., Raina, V.B., Funk, S.K., Liedtke, D., Janning, P., Muller, F., Reichle, H., Vader, G., Weir, J.R. (2021) Novel mechanistic insights into the role of Mer2 as the keystone of meiotic DNA break formation. Elife 10;e72330

Silva de Araujo BE, Velleuer E, Dietrich R, Pomjanski N, de Santana Almeida Araujo IK, Schlensog M, Wells SI, Dorsman JC, Schramm M (2021) Detection of cytogenetic changes and chromosomal aneuploidy with fluorescent in situ hybridization in cytological specimens of oral cancers in Fanconi anemia-Proof of concept. Clin Exp Dent Res

Van der Weegen Y, de Lint K, van den Heuvel D, Nakazawa Y, Mevissen TET, van Schie JJM, San Martin Alonso M, Boer DEC, Gonzalez-Prieto R, Narayanan IV, Klaassen NHM, Wondergem AP, Roohollahi K, Dorsman JC, Hara Y, Vertegaal ACO, de Lange J, Walter JC, Noordermeer SM, Ljungman M, Ogi T, Wolthuis RMF, Luijsterburg MS (2021) ELOF1 is a transcription-coupled DNA repair factor that directs RNA polymerase II ubiquitylation. Nat Cell Biol 23:595-607

Van Schie, J.J.M. and de Lange, J. (2021) The Interplay of Cohesin and the Replisome at Processive and Stressed DNA Replication Forks. Cells 10(12)

2020

Benedict, B., van Schie, J.J.M., Oostra, A.B., Balk, J.A., Wolthuis, R.M.F., te Riele, H., de Lange, J. (2020) WAPL-dependent repair of damaged DNA replication forks underlies oncogene-induced loss of sister chromatid cohesion. Dev. Cell 52:683-698. doi.org/10.1016/j.devcel.2020.01.024

Cardoso da Silva, R., Villar-Fernández, M.A., Vader, G. (2020) Active transcription and Orc1 drive chromatin association of the AAA+ ATPase Pch2 during meiotic G2/prophase. PLoS Genetics 16:e1008905.

Faramarz, A., Balk, J.A., van Schie, J.J.M., Oostra, A.B, Ghandour, C.A., Rooimans, M.A., Wolthuis, R.M.F., de Lange, J. (2020) Non-redundant roles in sister chromatid cohesion of the DNA helicase DDX11 and the SMC3 acetyl transferases ESCO1 and ESCO2. PLoS One 15: e0220348.

Kuhl, L.M., Makrantoni, V., Recknagel, S., Vaze, A.N., Marston, A.L., Vader, G. (2020) A dCas9-based system identifies a central role for Ctf19 in kinetochore-derived suppression of meiotic recombination. Genetics 216:395-408.

Raina, V.B., Vader, G. (2020) Homeostatic control of meiotic prophase checkpoint function by Pch2 and Hop1. Current Biology 30:4413-4424.e5.

Sato K, Brandsma I, van Rossum-Fikkert SE, Verkaik N, Oostra AB, Dorsman JC, van Gent DC, Knipscheer P, Kanaar R, Zelensky AN (2020) HSF2BP negatively regulates homologous recombination in DNA interstrand crosslink repair. Nucleic Acids Res 48:2442-2456

Van de Beek I, Glykofridis IE, Wolthuis RMF, Gille H, Johannesma PC, Meijers-Heijboer HEJ, Moorselaar R, Houweling AC (2020) No evidence for increased prevalence of colorectal carcinoma in 399 Dutch patients with Birt-Hogg-Dube syndrome. Br J Cancer 122:590-594

Van Dongen, J.E., Berendsen, J.T., Steenbergen, R.D., Wolthuis, R.M.F., Eijkel, J.C., Segerink, L.I. (2020) Point-of-care CRISPR/Cas nucleic acid detection: Recent advances, challenges and opportunities. Biosensors and Bioelectronics 166:112445

Van Harten AM, de Boer DV, Martens-de Kemp SR, Buijze M, Ganzevles SH, Hunter KD, Leemans CR, van Beusechem VW, Wolthuis RMF, de Menezes RX, Brakenhoff RH (2020) Chemopreventive targeted treatment of head and neck precancer by Wee1 inhibition. Sci Rep 10:2330

Van Schie, J.J., Faramarz, A., Balk, J.A., Stewart, G.S., Cantelli, E., Oostra, A.B., Rooimans, M.A., Parish, J.L., de Almeida Estéves, C., Dumic, K., Barisic, I., Diderich, K.E.M., van Slegtenhorst, M.A., Mahtab, M., Pisani, F.M., te Riele, H., Ameziane, N., Wolthuis, R.M.F., de Lange, J. (2020) Warsaw Breakage Syndrome associated DDX11 helicase resolves G-quadruplex structures to support sister chromatid cohesion. Nat. Comm. 11:1-18

Villar-Fernandez MA, Cardoso da Silva R, Firlej M, Pan D, Weir E, Sarembe A, Raina VB, Bange T, Weir JR, Vader G (2020) Biochemical and functional characterization of a meiosis-specific Pch2/ORC AAA+ assembly. Life Sci Alliance 3

Warmerdam DO, Alonso-de Vega I, Wiegant WW, van den Broek B, Rother MB, Wolthuis RM, Freire R, van Attikum H, Medema RH, Smits VA (2020) PHF6 promotes non-homologous end joining and G2 checkpoint recovery. EMBO Rep 21:e48460

2019

Van de Vrugt HJ, Harmsen T, Riepsaame J, Alexantya G, van Mil SE, de Vries Y, Bin Ali R, Huijbers IJ, Dorsman JC, Wolthuis RMF, Te Riele H (2019) Effective CRISPR/Cas9-mediated correction of a Fanconi anemia defect by error-prone end joining or templated repair. Sci Rep 9:768

Van Harten AM, Buijze M, van der Mast R, Rooimans MA, Martens-de Kemp SR, Bachas C, Brink A, Stigter-van Walsum M, Wolthuis RMF, Brakenhoff RH (2019) Targeting the cell cycle in head and neck cancer by Chk1 inhibition: a novel concept of bimodal cell death. Oncogenesis 8:38.

Van Harten AM, Poell JB, Buijze M, Brink A, Wells SI, Rene Leemans C, Wolthuis RMF, Brakenhoff RH (2019) Characterization of a head and neck cancer-derived cell line panel confirms the distinct TP53-proficient copy number-silent subclass. Oral Oncol 98:53-61.

Warmerdam DO, Wolthuis RMF (2019) Keeping ribosomal DNA intact: a repeating challenge. Chromosome Res 27:57-72

2018

Bachas C, Hodzic J, van der Mijn JC, Stoepker C, Verheul HMW, Wolthuis RMF, Felley-Bosco E, van Wieringen WN, van Beusechem VW, Brakenhoff RH, de Menezes RX (2018) Rscreenorm: normalization of CRISPR and siRNA screen data for more reproducible hit selection. BMC Bioinformatics 19:301

Benedict B, van Harn T, Dekker M, Hermsen S, Kucukosmanoglu A, Pieters W, Delzenne-Goette E, Dorsman JC, Petermann E, Foijer F, Te Riele H (2018) Loss of p53 suppresses replication-stress-induced DNA breakage in G1/S checkpoint deficient cells. Elife 7

Cagnan I, Gunel-Ozcan A, Aerts-Kaya F, Ameziane N, Kuskonmaz B, Dorsman J, Gumruk F, Uckan D (2018) Bone Marrow Mesenchymal Stem Cells Carrying FANCD2 Mutation Differ from the Other Fanconi Anemia Complementation Groups in Terms of TGF-beta1 Production. Stem Cell Rev Rep 14:425-437

Jansen, R.W., de Jong, M.C., Kooi, I.E., Sirin, S., Göricke, S., Brisse, H.J., Maeder, P., Galluzzi P., van der Valk, P., Cloos, J., Eekhout, I., Castelijns, J.A., Moll, A.C., Dorsman, J.C., de Graaf, P. (2018) MR Imaging features of Retinoblastoma: association with gene expression profiles. Radiology 288:506-515. PMID: 29714679

Jansen RW, van Amstel P, Martens RM, Kooi IE, Wesseling P, de Langen AJ, Menke-Van der Houven van Oordt CW, Jansen BHE, Moll AC, Dorsman JC, Castelijns JA, de Graaf P, de Jong MC (2018) Non-invasive tumor genotyping using radiogenomic biomarkers, a systematic review and oncology-wide pathway analysis. Oncotarget 9:20134-20155

2017

Kooi IE, van Mil SE, MacPherson D, Mol BM, Moll AC, Meijers-Heijboer H, Kaspers GJ, Cloos J, Te Riele H, Dorsman JC (2017) Genomic landscape of retinoblastoma in Rb(-/-) p130(-/-) mice resembles human retinoblastoma. Genes Chromosomes Cancer 56:231-242

Meyer S, Stevens A, Paredes R, Schneider M, Walker MJ, Williamson AJK, Gonzalez-Sanchez MB, Smetsers S, Dalal V, Teng HY, White DJ, Taylor S, Muter J, Pierce A, de Leonibus C, Rockx DAP, Rooimans MA, Spooncer E, Stauffer S, Biswas K, Godthelp B, Dorsman J, Clayton PE, Sharan SK, Whetton AD (2017) Acquired cross-linker resistance associated with a novel spliced BRCA2 protein variant for molecular phenotyping of BRCA2 disruption. Cell Death Dis 8:e2875

2016

Boekhout M, Yuan R, Wondergem AP, Segeren HA, van Liere EA, Awol N, Jansen I, Wolthuis RM, de Bruin A, Westendorp B (2016) Feedback regulation between atypical E2Fs and APC/CCdh1 coordinates cell cycle progression. EMBO Rep 17:414-427

Kooi IE, Mol BM, Massink MP, Ameziane N, Meijers-Heijboer H, Dommering CJ, van Mil SE, de Vries Y, van der Hout AH, Kaspers GJ, Moll AC, Te Riele H, Cloos J, Dorsman JC (2016) Somatic genomic alterations in retinoblastoma beyond RB1 are rare and limited to copy number changes. Sci Rep 6:25264

Kooi IE, Mol BM, Massink MP, de Jong MC, de Graaf P, van der Valk P, Meijers-Heijboer H, Kaspers GJ, Moll AC, Te Riele H, Cloos J, Dorsman JC (2016) A Meta-Analysis of Retinoblastoma Copy Numbers Refines the List of Possible Driver Genes Involved in Tumor Progression. PLoS One 11:e0153323

2015

Ameziane, N., May, P., Haitjema, A., van de Vrugt, H.J., van Rossum-Fikkert, S.E., Ristic, D., Williams G.J., Balk, J., Rockx, D., Li, H., Rooimans, M.A., Oostra, A.B., Velleuer, E., Dietrich, R., Bleijerveld, O.B., Altelaar, M.A.F., Meijers-Heijboer, H., Joenje, H., Glusman, G., Roach, J., Hood, L., Galas, D., Wyman, C,. Balling, R., den Dunnen, J., de Winter, J.P., Kanaar, R., Gelinas, R., Dorsman, J.C. (2015) A novel Fanconi anaemia subtype associated with a dominant-negative mutation in RAD51. Nat. Comm. 18:8829.

Best, M.G., Sol, N., Kooi, I., Tannous, J., Westerman, B.A., Rustenburg, F., Schellen, P., Verschueren, H., Post, E., Koster, J., Ylstra, B., Ameziane, N., Dorsman, J., Smit, E.F., Verheul, H.M., Noske, D.P., Reijneveld, J.C., Nilsson, R.J.A., Tannous, B.A., Wesseling, P., Wurdinger, T. (2015) RNA-Seq of tumor-educated platelets enables blood-based pan-cancer, multiclass, and molecular pathway cancer diagnostics. Cancer Cell 28:666-676.

Corbin, M.V., Rockx, D.A., Oostra, A.B., Joenje, H., Dorsman, J.C. (2015) The iron-sulfur cluster assembly network component NARFL is a key element in the cellular defense against oxidative stress. Free Radic. Bio.l Med. 89:863-72.

De Lange, J., Faramarz, A., Oostra, A.B., De Menezes, R.X., van der Meulen, I.H., Rooimans, M.A., Rockx, D.A., Brakenhoff, R.H., van Beusechem, V.W., King, R.W., Wolthuis, R.M.F. (2015) Defective sister chromatid cohesion is synthetically lethal with impaired APC/C function. Nat. Comm. 6:1-12

Vincenten N, Kuhl LM, Lam I, Oke A, Kerr AR, Hochwagen A, Fung J, Keeney S, Vader G*, Marston AL* (2015). The kinetochore prevents centromere-proximal crossover recombination during meiosis. Elife. 4:e10850. * Equal contribution and shared corresponding authors.