2024

Adams DJ, Barlas B, McIntyre RE, Salguero I, van der Weyden L, Barros A, Vicente JR, Karimpour N, Haider A, Ranzani M, Turner G, Thompson NA, Harle V, Olvera-León R, Robles-Espinoza CD, Speak AO, Geisler N, Weninger WJ, Geyer SH, Hewinson J, Karp NA, The Sanger Mouse Genetics Project, Fu B, Yang F, Kozik Z, Choudhary J, Yu L, van Ruiten MS, Rowland BD, Lelliott CJ, de Castillo Velasco-Herrera M, Verstraten R, Bruckner L, Henssen AG, Rooimans MA, de Lange J, Mohun TJ, Arends MJ, Kentistou KA, Cohelho PA, Zhao Y, Zecchini H, Perry JRB, Jackson SP and Balmus G. (2024). Genetic determinants of micronucleus formation in vivo. Nature 627(8002):130-136

Ferreira A, Calado SM, Jorge X, de Lange J, Carvalhal S (2024). Generation and characterization of two isogenic induced pluripotent stem cell lines from a young female with microcephaly carrying a compound heterozygous mutation in BUB1 gene. Stem Cell Res 81:103594

Jansen PR, van Haelst M, Wolthuis RMF (2024). Genetic therapy by CRISPR-Cas: paving the way to clinical practice. Ned Tijdschr Geneeskd. 168:D8247

Schreuder A, de Lint K, Gois MM, Kampen RA, San Martin AM, Nootenboom I, Garzero V, Wolthuis RMF, Noordermeer SM (2024). Finding novel vulnerabilities of hypomorphic BRCA1 alleles. BioRxiv 2024.05. 24.595688

Van den Heuvel D, Rodríguez-Martínez M, van der Meer PJ, Nieto Moreno N, Park J, Kim HS, van Schie JJM, Wondergem AP, D’Souza A, Yakoub G, Herlihy AE, Kashyap K, Boissière T, Walker J, Mitter R, Apelt K, de Lint K, Kirdök I, Ljungman M, Wolthuis RMF, Cramer P, Schärer OD, Kokic G, Svejstrup JQ, Luijsterburg MS (2024). STK19 facilitates the clearance of lesion-stalled RNAPII during transcription-coupled DNA repair. Cell S00992-8674(24)01200-5

Van Riel L, Kets CM, van Hest LP, Menko FH, Boerrigter BG, Franken SM, Wolthuis RMF, Dubbink HJ, Zondervan PJ, van Moorselaar RJA, Houweling AC, van de Beek I (2024). Metastatic disease after removal of a renal cell carcinoma smaller than 3 cm in a patient with Birt-Hogg-Dubé syndrome, a case report. Fam Cancer 23(4):579-582

2023

Bouchoucha Y, Matet A, Berger A, Carcaboso AM, Gerrish A, Moll A, Jenkinson H, Ketteler P, Dorsman JC, Chantada G, Beck-Popovic M, Munier F, Aerts I, Doz F, Golmard L; European Retinoblastoma Group EuRbG. (2023). Retinoblastoma: From genes to patient care. Eur J Med Genet. 66(1)104674

Jansen RW, Roohollahi K, Uner OE, de Jong Y, de Bloeme CM, Göricke S, Sirin S, Maeder P, Galluzzi P, Brisse HJ, Cardoen L, Castelijns JA, van der Valk P, Moll AC, Grossniklaus H, Hubbard GB, de Jong MC, Dorsman J, de Graaf P; European Retinoblastoma Imaging Collaboration (2023). Correlation of gene expression with magnetic resonance imaging features of retinoblastoma: a multi-center radiogenomics validation study. Eur Radiol

Jansen RW, de Bloeme CM, Cardoen L, Göricke S, van Elst S, Jessen JL, Ramasubramanian A, Skalet AH, Miller AK, Maeder P, Uner OE, Hubbard GB, Grossniklaus H, Boldt HC, Nichols KE, Brennan RC, Sen S, Sirin S, Brisse HJ, Galluzzi P, Dommering CJ, Castelijns JA, van der Valk P, Boellaard R, Dorsman J, Moll AC, de Jong MC, de Graaf P (2023). MRI Features for Identifying MYCN-amplified RB1 Wild-type Retinoblastoma. Radiology 222264

Kohabir KAV, Nooi LO, Brink A, Brakenhoff RH, Sistermans EA, Wolthuis RMF (2023). In Vitro CRISPR-Cas12a-Based Detection of Cancer-Associated TP53 Hotspot Mutations Beyond the crRNA Seed Region. CRISPR J. 2022.0077

Nguyen HT, Tang W, Webster ALH, Whiteaker JR, Chandler CM, Errazquin R, Roohollahi K, Fritzke M, Hoskins EE, Jonlin E, Wakefield L, Sullivan LB, Chen EY, Dorsman J, Brakenhoff R, Paulovich AG, Grompe M, Garcia-Escudero R, Wells SI, Smogorzewska A, Monnat RJ Jr. (2023). Fanconi anemia-isogenic head and neck cancer cell line pairs: A basic and translational science resource. Int J Cancer. 153(1):183-196

Pai G, Roohollahi K, Rockx D, de Jong Y, Stoepker C, Pennings C, Rooimans M, Vriend L, Piersma S, Jimenez CR, De Menezes RX, Van Beusechem VW, Brakenhoff RH, Te Riele H, Wolthuis RMF, Dorsman JC (2023). Genome-wide siRNA screens identify RBBP9 function as a potential target in Fanconi anaemia-deficient head-and-neck squamous cell carcinoma. Commun. Biol. 6(1):37

Raina VB, Schoot Uiterkamp M, Vader G. (2023). Checkpoint control in meiotic prophase: Idiosyncratic demands require unique characteristics. Curr Top Dev Biol. 151:281-315

Sou IF, Hamer G, Tee WW, Vader G, McClurg UL (2023). Cancer and meiotic gene expression: Two sides of the same coin? Curr Top Dev Biol. 151:43-68

Tissier RLM, van Schie JJM, Wolthuis RMF, de Lange J, de Menezes R (2023). ShrinkCRISPR: a flexible method for differential fitness analysis of CRISPR-Cas9 screen data. BMC Bioinformatics 24(36)

Van de Beek I, Glykofridis IE, Tanck MWT, Luijten MNH, Starink TM, Balk JA, Johannesma PC, Hennekam E, van den Hoff MJB, Gunst QD, Gille JJP, Polstra AM, Postmus PE, van Steensel MAM, Postma AV, Wolthuis RMF, Menko FH, Houweling AC, Waisfisz Q (2023). Familial multiple discoid fibromas is linked to a locus on chromosome 5 including the FNIP1 gene. J Hum Genet 10.1038/s10038-022-01113-1.

Van de Beek I, Glykofridis IE, Oosterwijk JC, Akker PC, Diercks GFH, Bolling MC, Waisfisz Q, Mensenkamp AR, Balk JA, Zwart R, Postma AV, Meijers-Heijboer HEJ, Moorselaar RJA, Wolthuis RMF, Houweling AC (2022). PRDM10 directs FLCN expression in a novel disorder overlapping with Birt-Hogg-Dubé syndrome and familial lipomatosis. Hum Mol Genet ddac288

Van Riel L, van de Beek I, Wolthuis RMF, Boerrigter BG, van Moorselaar RJA, Houweling AC. (2023). Pneumothorax as an early indication for a genetic disorder. Ned Tijdschr Geneeskd. 167:D7422.

Van Riel L, van Hulst RA, van Hest L, van Moorselaar RJA, Boerrigter BG, Franken SM, Wolthuis RMF, Dubbink HJ, Marciniak SJ, Gupta N (2023). Recommendations on scuba diving in Birt-Hogg-Dubé syndrome. Expert Rev Respir Med 17(11),1003-1008

Van Schie JJM, de Lint K, Molenaar TM, Moronta Gines M, Balk JA, Rooimans MA, Roohollahi K, Pai GM, Borghuis L, Ramadhin AR, Corazza F, Dorsman JC, Wendt KS, Wolthuis RMF, de Lange J (2023). CRISPR screens in sister chromatid cohesion defective cells reveal PAXIP1-PAGR1 as regulator of chromatin association of cohesin. Nucleic Acids Res. 2023 Sep 13:gkad756.

2022

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

Glykofridis IE, Henneman AA, Balk JA, Goeij-de Haas R, Westland D, Piersma SR, Knol JC, Pham TV, Boekhout M, Zwartkruis FJT, Wolthuis RMF, Jimenez CR (2022). Phosphoproteomic Analysis of FLCN Inactivation Highlights Differential Kinase Pathways and Regulatory TFEB Phosphoserines. Mol Cell Proteomics 21(9):100263

In ‘t Veld S, Arkani M, Post E, Antunes-Ferreira M, D’Ambrosi S, Vessies DCL, Vermunt L, Vancura A, Muller M, Niemeijer AN, Tannous J, Meijer LL, Le Large TYS, Mantini G, Wondergem NE, Heinhuis KM, van Wilpe S, Smits AJ, Drees EEE, Roos E, Leurs CE, Tjon Kon Fat LA, van der Lelij EJ, Dwarshuis G, Kamphuis MJ, Visser LE, Harting R, Gregory A, Schweiger MW, Wedekind LE, Ramaker J, Zwaan K, Verschueren H, Bahce I, de Langen AJ, Smit EF, van den Heuvel MM, Hartemink KJ, Kuijpers MJE, Oude Egbrink MGA, Griffioen AW, Rossel R, Hiltermann TJN, Lee-Lewandrowski E, Lewandrowski KB, De Witt Hamer PC, Kouwenhoven M, Reijneveld JC, Leenders WPJ, Hoeben A, Verdonck-de Leeuw IM, Leemans CR, Baatenburg de Jong RJ, Terhaard CHJ, Takes RP, Langendijk JA, de Jager SC, Kraaijeveld AO, Pasterkamp G, Smits M, Schalken JA, Lapinska-Szumczyk S, Lojkowska A, Zaczek AJ, Lokhorst H, van de Donk N, Nijhof I, Prins HJ, Zijlstra JM, Idema S, Baayen JC, Teunissen CE, Killestein J, Besselink MG, Brammen L, Bachleitner-Hofmann T, Mateen F, Plukker JTM, Heger M, de Mast Q, Lisman T, Pegtel DM, Bogaard HJ, Jassem J, Supernat A, Mehra N, Gerritsen W, de Kroon CD, Lok CAR, Piek JMJ, Steeghs N, van Houdt WJ, Brakenhoff RH, Sonke GS, Verheul HM, Giovannetti E, Kazemier G, Sabrkhany S, Schuuring E, Sistermans EA, Wolthuis R, Meijers-Heijboer H, Dorsman J, Oudejans C, Ylstra B, Westerman BA, van den Broek D, Koppers-Lalic D, Wesseling P, Nilsson RJA, Vandertop WP, Noske DP, Tannous BA, Sol N, Best MG, Wurdinger T (2022). Detection and localization of early- and late-stage cancers using platelet RNA. Cancer Cell 40(9):999-1009.e6

Roohollahi K., de Jong Y., van Mil SE, Fabius AWM, Moll AC, Dorsman JC (2022). High-level MYCN-amplified RB1-proficient retinoblastoma tumors retain distinct molecular signatures. Ophtalmol Sci. 2(3):100188

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 12(1):45

Silva de Araujo BE, Velleuer E, Dietrich R, Pomjanski N, de Santana Almeida Araujo IK, Schlensog M, Wells SI, Dorsman JC, Schramm M (2022). 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 8(1):108-116.

Van de Beek I, Glykofridis IE, Wagner A, Den Toom DT, Bongers EMHF, Van Leenders GJLH, Johannesma PC, Meijers-Heijboer HEJ, Wolthuis RMF, Van Steensel MAM, Dubbink HJ, Houweling AC (2022). Combined germline pathogenic variants in FLCN and TP53 are associated with early onset renal cell carcinoma and brain tumors. Mol Genet Genomic Med. e2098

Van Riel L, Jansen PR, Boerrigter BG, Van Moorselaar RJA, Van Haelst MM, Wolthuis RMF, Van de Beek I, Houweling AC (2022). Correspondence on “Frequency of truncating FLCN variants and Birt-Hogg-Dubé-associated phenotypes in a health care system population” by Savatt et al. Genet Med. 25(1):158-160

Van Schie JJM, de Lint K, Pai GM, Rooimans MA, Wolthuis RMF, de Lange J (2022). MMS22L-TONSL functions in sister chromatid cohesion in a pathway parallel to DSCC1-RFC. Life Sci Alliance; 6(2): e202201596

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

Kohabir K, Wolthuis RMF, Sistermans EA (2021). Fragmentomic cfDNA Patterns in Noninvasive Prenatal Testing and Beyond. Journal of Biomedicine and Translational Research 7(1)

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

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.