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Research Output 1998 2019

  • 41 Article
  • 1 Comment/Letter to the editor
  • 1 Review article
  • 1 Doctoral Thesis
2019

Dutch genome diagnostic laboratories accelerated and improved variant interpretation and increased accuracy by sharing data

Fokkema, I. F. A. C., van der Velde, K. J., Slofstra, M. K., Ruivenkamp, C. A. L., Vogel, M. J., Pfundt, R., Blok, M. J., Deprez, R. H. L., Waisfisz, Q., Abbott, K. M., Sinke, R. J., Rahman, R., Nijman, I. J., de Koning, B., Thijs, G., Wieskamp, N., Moritz, R. J. G., Charbon, B., Saris, J. J., den Dunnen, J. T. & 3 others, Laros, J. F. J., Swertz, M. A. & van Gijn, M. E., Dec 2019, In : Human Mutation. 40, 12, p. 2230-2238 9 p.

Research output: Contribution to journalArticleAcademicpeer-review

Open Access

Survival after bilateral risk-reducing mastectomy in healthy BRCA1 and BRCA2 mutation carriers

Heemskerk-Gerritsen, B. A. M., Jager, A., Koppert, L. B., Obdeijn, A. I-M., Collee, M., Meijers-Heijboer, H. E. J., Jenner, D. J., Oldenburg, H. S. A., van Engelen, K., de Vries, J., van Asperen, C. J., Devilee, P., Blok, M. J., Kets, C. M., Ausems, M. G. E. M., Seynaeve, C., Rookus, M. A. & Hooning, M. J., Oct 2019, In : Breast Cancer Research and Treatment. 177, 3, p. 723-733 11 p.

Research output: Contribution to journalArticleAcademicpeer-review

Open Access

Targeted RNA-seq successfully identifies normal and pathogenic splicing events in breast/ovarian cancer susceptibility and Lynch syndrome genes

Brandao, R. D., Mensaert, K., Lopez-Perolio, I., Tserpelis, D., Xenakis, M., Lattimore, V., Walker, L. C., Kvist, A., Vega, A., Gutierrez-Enriquez, S., Diez, O., de la Hoya, M., Spurdle, A. B., De Meyer, T. & Blok, M. J., 15 Jul 2019, In : International Journal of Cancer. 145, 2, p. 401-414 14 p.

Research output: Contribution to journalArticleAcademicpeer-review

Open Access

TP53 germline mutation testing in early-onset breast cancer: findings from a nationwide cohort

Bakhuizen, J. J., Hogervorst, F. B., Velthuizen, M. E., Ruijs, M. W., van Engelen, K., van Os, T. A., Gille, J. J., Collee, M., van den Ouweland, A. M., van Asperen, C. J., Kets, C. M., Mensenkamp, A. R., Leter, E. M., Blok, M. J., de Jong, M. M. & Ausems, M. G., Apr 2019, In : Familial Cancer. 18, 2, p. 273-280 8 p.

Research output: Contribution to journalArticleAcademicpeer-review

2018

BRCA1 and BRCA2 5 ' noncoding region variants identified in breast cancer patients alter promoter activity and protein binding

Burke, L. J., Sevcik, J., Gambino, G., Tudini, E., Mucaki, E. J., Shirley, B. C., Whiley, P., Parsons, M. T., De Leeneer, K., Gutierrez-Enriquez, S., Santamarina, M., Caputo, S. M., dos Santos, E. S., Soukupova, J., Janatova, M., Zemankova, P., Lhotova, K., Stolarova, L., Borecka, M., Moles-Fernandez, A. & 17 others, Manoukian, S., Bonanni, B., Edwards, S. L., Blok, M. J., Hansen, T. V. O., Rossing, M., Diez, O., Vega, A., Claes, K. B. M., Goldgar, D. E., Rouleau, E., Radice, P., Peterlongo, P., Rogan, P. K., Caligo, M., Spurdle, A. B. & Brown, M. A., 1 Dec 2018, In : Human Mutation. 39, 12, p. 2025-2039 15 p.

Research output: Contribution to journalArticleAcademicpeer-review

Genetic Testing and Clinical Management Practices for Variants in Non-BRCA1/2 Breast (and Breast/Ovarian) Cancer Susceptibility Genes: An International Survey by the Evidence-Based Network for the Interpretation of Germline Mutant Alleles (ENIGMA) Clinical Working Group

Nielsen, S., Romero, I. L., Olopade, O. I., Eccles, D., Eeles, R., Wallis, Y., Al-Mulla, F., Balmana, J., Diez, O., De La Hoya, M., Lazaro, C., Vega, A., Biancolella, M., Piane, M., Caligo, M., Capone, G. L., Cavalli, P., Cortesi, L., de Toffol, S., Mori, L. & 42 others, Naldi, N., Puzzo, M., Sini, M. C., Tedaldi, G., Tibiletti, M. G., Varesco, L., De Nicolo, A., Blok, M., Gomez Garcia, E., Mensenkamp, A. R., Moghadasi, S., Chan, T. L. C., Claes, K. B. M., Couch, F., Domchek, S. M., Efremidis, A., Fostira, F., Goldgar, D. E., Hadjisavvas, A., Loizidou, M., Rossing, M., Roed Nielsen, H., Thomassen, M., Pedersen, I. S., Hirasawa, A., Houdayer, C., Krieger, S., Kleiblova, P., Soukupova, J., Monteiro, A. N., Morrow, A., Pachter, N. S., Spurdle, A. B., Palmero, E. I., Robson, M., Solano, A. R., Teixeira, M. R., Toland, A. E., Törngren, T., Vaccari, E., Wappenschmidt, B. & Weitzel, J. N., 26 Oct 2018, In : JCO Precision Oncology. 2, p. 1-43 43 p.

Research output: Contribution to journalArticleAcademicpeer-review

Mutational spectrum in a worldwide study of 29,700 families with BRCA1 or BRCA2 mutations

Rebbeck, T. R., Friebel, T. M., Friedman, E., Hamann, U., Huo, D., Kwong, A., Olah, E., Olopade, O. I., Solano, A. R., Teo, S-H., Thomassen, M., Weitzel, J. N., Chan, T. L., Fergus, F. J., Goldgar, D. E., Kruse, T. A., Edenir, E. I., Park, S. K., Torres, D., van Rensburg, E. J. & 30 others, McGuffog, L., Parsons, M. T., Leslie, G., Aalfs, C. M., Abugattas, J., Adlard, J., Agata, S., Aittomaki, K., Andrews, L., Andrulis, I. L., Arason, A., Arnold, N., Arun, B. K., Asseryanis, E., Auerbach, L., Azzollini, J., Balmana, J., Barile, M., Barkardottir, R. B., Barrowdale, D., Benitez, J., Berger, A., Berger, R., Blanco, A. M., Blazer, K. R., Blok, M. J., Bonadona, V., Bonanni, B., Bradbury, A. R. & Brewer, C., 1 May 2018, In : Human Mutation. 39, 5, p. 593-620 28 p.

Research output: Contribution to journalArticleAcademicpeer-review

Oral Contraceptive Use and Breast Cancer Risk: Retrospective and Prospective Analyses From a BRCA1 and BRCA2 Mutation Carrier Cohort Study

Schrijver, L. H., Olsson, H., Phillips, K-A., Terry, M. B., Goldgar, D. E., Kast, K., Engel, C., Mooij, T. M., Adlard, J., Barrowdale, D., Davidson, R., Eeles, R., Ellis, S., Evans, D. G., Frost, D., Izatt, L., Porteous, M. E., Side, L. E., Walker, L., Berthet, P. & 30 others, Bonadona, V. E., Leroux, D., Mouret-Fourme, E., Venat-Bouvet, L., Buys, S. S., Southey, M. C., John, E. M., Chung, W. K., Daly, M. B., Bane, A., van Asperen, C. J., Garcia, E. B. G., Mourits, M. J. E., Roos-Blom, M-J., Friedlander, M. L., McLachlan, S-A., Singer, C. F., Foretova, L., Gerdes, A-M., Caldes, T., Olah, E., Jakubowska, A., Nogues, C., Andrieu, N., van Leeuwen, F. E., Schmidt, M. K., Wijnands, R., Ausems, M. G. E. M., Gomez-Garcia, E. B. & Blok, M. J., Apr 2018, In : JNCI Cancer Spectrum. 2, 2, 14 p., 023.

Research output: Contribution to journalArticleAcademicpeer-review

Open Access

The BRCA1 c. 5096G > A p.Arg1699Gln (R1699Q) intermediate risk variant: breast and ovarian cancer risk estimation and recommendations for clinical management from the ENIGMA consortium

Moghadasi, S., Meeks, H. D., Vreeswijk, M. P. G., Janssen, L. A. M., Borg, A., Ehrencrona, H., Paulsson-Karlsson, Y., Wappenschmidt, B., Engel, C., Gehrig, A., Arnold, N., Hansen, T. V. O., Thomassen, M., Jensen, U. B., Kruse, T. A., Ejlertsen, B., Gerdes, A-M., Pedersen, I. S., Caputo, S. M., Couch, F. & 20 others, Hallberg, E. J., van den Ouweland, A. M. W., Collee, M. J., Teugels, E., Adank, M. A., van der Luijt, R. B., Mensenkamp, A. R., Oosterwijk, J. C., Blok, M. J., Janin, N., Claes, K. B. M., Tucker, K., Viassolo, V., Toland, A. E., Eccles, D. E., Devilee, P., Van Asperen, C. J., Spurdle, A. B., Goldgar, D. E. & Garcia, E. G., 1 Jan 2018, In : Journal of Medical Genetics. 55, 1, p. 15-20 6 p.

Research output: Contribution to journalArticleAcademicpeer-review

2017

Association of breast cancer risk in BRCA1 and BRCA2 mutation carriers with genetic variants showing differential allelic expression: identification of a modifier of breast cancer risk at locus 11q22.3

Hamdi, Y., Soucy, P., Kuchenbaeker, K. B., Pastinen, T., Droit, A., Lemacon, A., Adlard, J., Aittomaki, K., Andrulis, I. L., Arason, A., Arnold, N., Arun, B. K., Azzollini, J., Bane, A., Barjhoux, L., Barrowdale, D., Benitez, J., Berthet, P., Blok, M. J., Bobolis, K. & 148 others, Bonadona, V., Bonanni, B., Bradbury, A. R., Brewer, C., Buecher, B., Buys, S. S., Caligo, M. A., Chiquette, J., Chung, W. K., Claes, K. B. M., Daly, M. B., Damiola, F., Davidson, R., De la Hoya, M., De Leeneer, K., Diez, O., Ding, Y. C., Dolcetti, R., Domchek, S. M., Dorfling, C. M., Eccles, D., Eeles, R., Einbeigi, Z., Ejlertsen, B., Engel, C., Evans, D. G., Feliubadalo, L., Foretova, L., Fostira, F., Foulkes, W. D., Fountzilas, G., Friedman, E., Frost, D., Ganschow, P., Ganz, P. A., Garber, J., Gayther, S. A., Gerdes, A-M., Glendon, G., Godwin, A. K., Goldgar, D. E., Greene, M. H., Gronwald, J., Hahnen, E., Hamann, U., Hansen, T. V. O., Hart, S., Hays, J. L., Hogervorst, F. B. L., Hulick, P. J., Imyanitov, E. N., Isaacs, C., Izatt, L., Jakubowska, A., James, P., Janavicius, R., Jensen, U. B., John, E. M., Joseph, V., Just, W., Kaczmarek, K., Karlan, B. Y., Kets, C. M., Kirk, J., Kriege, M., Laitman, Y., Laurent, M., Lazaro, C., Leslie, G., Lester, J., Lesueur, F., Liljegren, A., Loman, N., Loud, J. T., Manoukian, S., Mariani, M., Mazoyer, S., McGuffog, L., Meijers-Heijboer, H. E. J., Meindl, A., Miller, A., Montagna, M., Mulligan, A. M., Nathanson, K. L., Neuhausen, S. L., Nevanlinna, H., Nussbaum, R. L., Olah, E., Olopade, O. I., Ong, K., Oosterwijk, J. C., Osorio, A., Papi, L., Park, S. K., Pedersen, I. S., Peissel, B., Segura, P. P., Peterlongo, P., Phelan, C. M., Radice, P., Rantala, J., Rappaport-Fuerhauser, C., Rennert, G., Richardson, A., Robson, M., Rodriguez, G. C., Rookus, M. A., Schmutzler, R. K., Sevenet, N., Shah, P. D., Singer, C. F., Slavin, T. P., Snape, K., Sokolowska, J., Sonderstrup, I. M. H., Southey, M., Spurdle, A. B., Stadler, Z., Stoppa-Lyonnet, D., Sukiennicki, G., Sutter, C., Tan, Y., Tea, M-K., Teixeira, M. R., Teule, A., Teo, S-H., Terry, M. B., Thomassen, M., Tihomirova, L., Tischkowitz, M., Tognazzo, S., Toland, A. E., Tung, N., van den Ouweland, A. M. W., van der Luijt, R. B., van Engelen, K., van Rensburg, E. J., Varon-Mateeva, R., Wappenschmidt, B., Wijnen, J. T., Rebbeck, T., Chenevix-Trench, G., Offit, K., Couch, F. J., Nord, S., Easton, D. F., Antoniou, A. C. & Simard, J., Jan 2017, In : Breast Cancer Research and Treatment. 161, 1, p. 117-134 18 p.

Research output: Contribution to journalArticleAcademicpeer-review

Open Access

Identification of 12 new susceptibility loci for different histotypes of epithelial ovarian cancer

Phelan, C. M., Kuchenbaecker, K. B., Tyrer, J. P., Kar, S. P., Lawrenson, K., Winham, S. J., Dennis, J., Pirie, A., Riggan, M. J., Chornokur, G., Earp, M. A., Lyra, P. C., Lee, J. M., Coetzee, S., Beesley, J., McGuffog, L., Soucy, P., Dicks, E., Lee, A., Barrowdale, D. & 30 others, Lecarpentier, J., Leslie, G., Aalfs, C. M., Aben, K. K. H., Adams, M., Adlard, J., Andrulis, I. L., Anton-Culver, H., Antonenkova, N., Aravantinos, G., Arnold, N., Arun, B. K., Arver, B., Azzollini, J., Balmana, J., Banerjee, S. N., Barjhoux, L., Barkardottir, R. B., Bean, Y., Beckmann, M. W., Beeghly-Fadiel, A., Benitez, J., Bermisheva, M., Bernardini, M. Q., Birrer, M. J., Bjorge, L., Black, A., Blankstein, K., Blok, M. J. & Bodelon, C., May 2017, In : Nature Genetics. 49, 5, p. 680-691 12 p.

Research output: Contribution to journalArticleAcademicpeer-review

Open Access

Identification of ten variants associated with risk of estrogen-receptor-negative breast cancer

Milne, R. L., Kuchenbaecker, K. B., Michailidou, K., Beesley, J., Kar, S., Lindstrom, S., Hui, S., Lemacon, A., Soucy, P., Dennis, J., Jiang, X., Rostamianfar, A., Finucane, H., Bolla, M. K., McGuffog, L., Wang, Q., Aalfs, C. M., Adams, M., Adlard, J., Agata, S. & 30 others, Ahmed, S., Ahsan, H., Aittomaki, K., Al-Ejeh, F., Allen, J., Ambrosone, C. B., Amos, C. I., Andrulis, I. L., Anton-Culver, H., Antonenkova, N. N., Arndt, V., Arnold, N., Aronson, K. J., Auber, B., Auer, P. L., Ausems, M. G. E. M., Azzollini, J., Bacot, F., Balmana, J., Barile, M., Barjhoux, L., Barkardottir, R. B., Barrdahl, M., Barnes, D., Barrowdale, D., Baynes, C., Beckmann, M. W., Benitez, J., Bermisheva, M. & Blok, M. J., Dec 2017, In : Nature Genetics. 49, 12, p. 1767-1778 12 p.

Research output: Contribution to journalComment/Letter to the editorAcademicpeer-review

Open Access

Novel BRCA1 and BRCA2 Tumor Test as Basis for Treatment Decisions and Referral for Genetic Counselling of Patients with Ovarian Carcinomas

Weren, R. D. A., Mensenkamp, A. R., Simons, M., Eijkelenboom, A., Sie, A. S., Ouchene, H., van Asseldonk, M., Gomez-Garcia, E. B., Blok, M. J., de Hullu, J. A., Nelen, M. R., Hoischen, A., Bulten, J., Tops, B. B. J., Hoogerbrugge, N. & Ligtenberg, M. J. L., Feb 2017, In : Human Mutation. 38, 2, p. 226-235 10 p.

Research output: Contribution to journalArticleAcademicpeer-review

Open Access
2016

Growth Pattern in Kabuki Syndrome with a KMT2D Mutation

Schott, D. A., Blok, M. J., Gerver, W., Devriendt, K., Zimmermann, L. J. I. & Stumpel, C. T. R. M., Dec 2016, In : American Journal of Medical Genetics Part A. 170, 12, p. 3172-3179

Research output: Contribution to journalArticleAcademicpeer-review

3 Citations (Scopus)

Naturally occurring BRCA2 alternative mRNA splicing events in clinically relevant samples

Fackenthal, J. D., Yoshimatsu, T., Zhang, B., de Garibay, G. R., Colombo, M., De Vecchi, G., Ayoub, S. C., Lal, K., Olopade, O. I., Vega, A., Santamarina, M., Blanco, A., Wappenschmidt, B., Becker, A., Houdayer, C., Walker, L. C., Lopez-Perolio, I., Thomassen, M., Parsons, M., Whiley, P. & 11 others, Blok, M. J., Dias Brandão, R., Tserpelis, D., Baralle, D., Montalban, G., Gutierrez-Enriquez, S., Diez, O., Lazaro, C., Spurdle, A. B., Radice, P. & de la Hoya, M., Aug 2016, In : Journal of Medical Genetics. 53, 8, p. 548-558

Research output: Contribution to journalArticleAcademicpeer-review

2015
2 Citations (Scopus)

Assessing Associations between the AURKA-HMMR-TPX2-TUBG1 Functional Module and Breast Cancer Risk in BRCA1/2 Mutation Carriers

Blanco, I., Kuchenbaecker, K., Cuadras, D., Wang, X., Barrowdale, D., Ruiz de Garibay, G., Librado, P., Sanchez-Gracia, A., Rozas, J., Bonifaci, N., McGuffog, L., Pankratz, V. S., Islam, A., Mateo, F., Berenguer, A., Petit, A., Catala, I., Brunet, J., Feliubadalo, L., Tornero, E. & 175 others, Benitez, J., Osorio, A., Cajal, T. R. Y., Nevanlinna, H., Aittomaki, K., Arun, B. K., Toland, A. E., Karlan, B. Y., Walsh, C., Lester, J., Greene, M. H., Mai, P. L., Nussbaum, R. L., Andrulis, I. L., Domchek, S. M., Nathanson, K. L., Rebbeck, T. R., Barkardottir, R. B., Jakubowska, A., Lubinski, J., Durda, K., Jaworska-Bieniek, K., Claes, K., Van Maerken, T., Diez, O., Hansen, T. V., Jonson, L., Gerdes, A-M., Ejlertsen, B., de la Hoya, M., Caldes, T., Dunning, A. M., Oliver, C., Fineberg, E., Cook, M., Peock, S., McCann, E., Murray, A., Jacobs, C., Pichert, G., Lalloo, F., Chu, C., Dorkins, H., Paterson, J., Ong, K-R., Teixeira, M. R., Teixeira, Hogervorst, F. B. L., van der Hout, A. H., Seynaeve, C., van der Luijt, R. B., Ligtenberg, M. J. L., Devilee, P., Wijnen, J. T., Rookus, M. A., Meijers-Heijboer, H. E. J., Blok, M. J., van den Ouweland, A. M. W., Aalfs, C. M., Rodriguez, G. C., Phillips, K-A. A., Piedmonte, M., Nerenstone, S. R., Bae-Jump, V. L., O'Malley, D. M., Ratner, E. S., Schmutzler, R. K., Wappenschmidt, B., Rhiem, K., Engel, C., Meindl, A., Ditsch, N., Arnold, N., Plendl, H. J., Niederacher, D., Sutter, C., Wang-Gohrke, S., Steinemann, D., Preisler-Adams, S., Kast, K., Varon-Mateeva, R., Gehrig, A., Bojesen, A., Pedersen, I. S., Sunde, L., Jensen, U. B., Thomassen, M., Kruse, T. A., Foretova, L., Peterlongo, P., Bernard, L., Peissel, B., Scuvera, G., Manoukian, S., Radice, P., Ottini, L., Montagna, M., Agata, S., Maugard, C., Simard, J., Soucy, P., Berger, A., Fink-Retter, A., Singer, C. F., Rappaport, C., Geschwantler-Kaulich, D., Tea, M-K., Pfeiler, G., John, E. M., Miron, A., Neuhausen, S. L., Terry, M. B., Chung, W. K., Daly, M. B., Goldgar, D. E., Janavicius, R., Dorfling, C. M., van Rensburg, E. J., Fostira, F., Konstantopoulou, I., Garber, J., Godwin, A. K., Olah, E., Narod, S. A., Rennert, G., Paluch, S. S., Laitman, Y., Friedman, E., Liljegren, A., Rantala, J., Stenmark-Askmalm, M., Loman, N., Imyanitov, E. N., Hamann, U., Spurdle, A. B., Healey, S., Weitzel, J. N., Herzog, J., Margileth, D., Gorrini, C., Esteller, M., Gomez, A., Sayols, S., Vidal, E., Heyn, H., Stoppa-Lyonnet, D., Leone, M., Barjhoux, L., Fassy-Colcombet, M., de Pauw, A., Lasset, C., Ferrer, S. F., Castera, L., Berthet, P., Cornelis, F., Bignon, Y-J., Damiola, F., Mazoyer, S., Sinilnikova, O. M., Maxwell, C. A., Vijai, J., Robson, M., Kauff, N., Corines, M. J., Villano, D., Cunningham, J., Lee, A., Lindor, N., Lazaro, C., Easton, D. F., Offit, K., Chenevix-Trench, G., Couch, F. J., Antoniou, A. C. & Angel Pujana, M., 1 Apr 2015, In : PLOS ONE. 10, 4, e0120020.

Research output: Contribution to journalArticleAcademicpeer-review

9 Citations (Scopus)

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

Jhuraney, A., Velkova, A., Johnson, R. C., Kessing, B., Carvalho, R. S., Whiley, P., Spurdle, A. B., Vreeswijk, M. P. G., Caputo, S. M., Millot, G. A., Vega, A., Coquelle, N., Galli, A., Eccles, D., Blok, M. J., Pal, T., van der Luijt, R. B., Pena, M. S., Neuhausen, S. L., Donenberg, T. & 10 others, Machackova, E., Thomas, S., Vallee, M., Couch, F. J., Tavtigian, S. V., Glover, J. N. M., Carvalho, M. A., Brody, L. C., Sharan, S. K. & Monteiro, A. N., Apr 2015, In : Journal of Medical Genetics. 52, 4, p. 224-230

Research output: Contribution to journalArticleAcademicpeer-review

1 Citation (Scopus)

Germ-line variants identified by next generation sequencing in a panel of estrogen and cancer associated genes correlate with poor clinical outcome in Lynch syndrome patients

Jori, B., Kamps, R., Xanthoulea, S., Delvoux, B., Blok, M. J., Van de Vijver, K. K., de Koning, B., Oei, F. T., Tops, C. M., Speel, E. J. M., Kruitwagen, R. F., Gomez-Garcia, E. B. & Romano, A., 1 Dec 2015, In : Oncotarget. 6, 38, p. 41108-41122

Research output: Contribution to journalArticleAcademicpeer-review

2014
15 Citations (Scopus)

Comprehensive annotation of splice junctions supports pervasive alternative splicing at the BRCA1 locus: a report from the ENIGMA consortium

Colombo, M., Blok, M. J., Whiley, P., Santamarina, M., Gutierrez-Enriquez, S., Romero, A., Garre, P., Becker, A., Smith, L. D., De Vecchi, G., Brandao, R. D., Tserpelis, D., Brown, M., Blanco, A., Bonache, S., Menendez, M., Houdayer, C., Foglia, C., Fackenthal, J. D., Baralle, D. & 9 others, Wappenschmidt, B., Diaz-Rubio, E., Caldes, T., Walker, L., Diez, O., Vega, A., Spurdle, A. B., Radice, P. & De La Hoya, M., 15 Jul 2014, In : Human Molecular Genetics. 23, 14, p. 3666-3680

Research output: Contribution to journalArticleAcademicpeer-review

2013
5 Citations (Scopus)

FMR1 low sub-genotype does not rescue BRCA1/2-mutated human embryos and does not explain primary ovarian insufficiency among BRCA1/2-carriers

Brandao, R. D., van Roozendaal, K., Tserpelis, D. & Blok, M. J., Aug 2013, In : Human Reproduction. 28, 8, p. 2308-2311

Research output: Contribution to journalArticleAcademicpeer-review

105 Citations (Scopus)

Genome-Wide Association Study in BRCA1 Mutation Carriers Identifies Novel Loci Associated with Breast and Ovarian Cancer Risk

Couch, F. J., Wang, X., McGuffog, L., Lee, A., Olswold, C., Kuchenbaecker, K. B., Soucy, P., Fredericksen, Z., Barrowdale, D., Dennis, J., Gaudet, M. M., Dicks, E., Kosel, M., Healey, S., Sinilnikova, O. M., Lee, A., Bacot, F., Vincent, D., Hogervorst, F. B. L., Peock, S. & 242 others, Stoppa-Lyonnet, D., Jakubowska, A., Radice, P., Schmutzler, R. K., Domchek, S. M., Piedmonte, M., Singer, C. F., Friedman, E., Thomassen, M., Hansen, T. V. O., Neuhausen, S. L., Szabo, C. I., Blanco, I., Greene, M. H., Karlan, B. Y., Garber, J., Phelan, C. M., Weitzel, J. N., Montagna, M., Olah, E., Andrulis, I. L., Godwin, A. K., Yannoukakos, D., Goldgar, D. E., Caldes, T., Nevanlinna, H., Osorio, A., Terry, M. B., Daly, M. B., van Rensburg, E. J., Hamann, U., Ramus, S. J., Toland, A. E., Caligo, M. A., Olopade, O. I., Tung, N., Claes, K., Beattie, M. S., Southey, M. C., Imyanitov, E. N., Tischkowitz, M., Janavicius, R., John, E. M., Kwong, A., Diez, O., Balmana, J., Barkardottir, R. B., Arun, B. K., Rennert, G., Teo, S-H., Ganz, P. A., Campbell, I., van der Hout, A. H., van Deurzen, C. H. M., Seynaeve, C., Garcia, E. B. G., van Leeuwen, F. E., Meijers-Heijboer, H. E. J., Gille, J. J. P., Ausems, M. G. E. M., Blok, M. J., Ligtenberg, M. J. L., Rookus, M. A., Devilee, P., Verhoef, S., van Os, T. A. M., Wijnen, J. T., Frost, D., Ellis, S., Fineberg, E., Platte, R., Evans, D. G., Izatt, L., Eeles, R. A., Adlard, J., Eccles, D. M., Cook, J., Brewer, C., Douglas, F., Hodgson, S., Morrison, P. J., Side, L. E., Donaldson, A., Houghton, C., Rogers, M. T., Dorkins, H., Eason, J., Gregory, H., McCann, E., Murray, A., Calender, A., Hardouin, A., Berthet, P., Delnatte, C., Nogues, C., Lasset, C., Houdayer, C., Leroux, D., Rouleau, E., Prieur, F., Damiola, F., Sobol, H., Coupier, I., Venat-Bouvet, L., Castera, L., Gauthier-Villars, M., Leone, M., Pujol, P., Mazoyer, S., Bignon, Y-J., Zlowocka-Perlowska, E., Gronwald, J., Lubinski, J., Durda, K., Jaworska, K., Huzarski, T., Spurdle, A. B., Viel, A., Peissel, B., Bonanni, B., Melloni, G., Ottini, L., Papi, L., Varesco, L., Tibiletti, M. G., Peterlongo, P., Volorio, S., Manoukian, S., Pensotti, V., Arnold, N., Engel, C., Deissler, H., Gadzicki, D., Gehrig, A., Kast, K., Rhiem, K., Meindl, A., Niederacher, D., Ditsch, N., Plendl, H., Preisler-Adams, S., Engert, S., Sutter, C., Varon-Mateeva, R., Wappenschmidt, B., Weber, B. H. F., Arver, B., Stenmark-Askmalm, M., Loman, N., Rosenquist, R., Einbeigi, Z., Nathanson, K. L., Rebbeck, T. R., Blank, S. V., Cohn, D. E., Rodriguez, G. C., Small, L., Friedlander, M., Bae-Jump, V. L., Fink-Retter, A., Rappaport, C., Gschwantler-Kaulich, D., Pfeiler, G., Tea, M-K., Lindor, N. M., Kaufman, B., Paluch, S. S., Laitman, Y., Skytte, A-B., Gerdes, A-M., Pedersen, I. S., Moeller, S. T., Kruse, T. A., Jensen, U. B., Vijai, J., Sarrel, K., Robson, M., Kauff, N., Mulligan, A. M., Glendon, G., Ozcelik, H., Ejlertsen, B., Nielsen, F. C., Jonson, L., Andersen, M. K., Ding, Y. C., Steele, L., Foretova, L., Teule, A., Lazaro, C., Brunet, J., Angel Pujana, M., Mai, P. L., Loud, J. T., Walsh, C., Lester, J., Orsulic, S., Narod, S. A., Herzog, J., Sand, S. R., Tognazzo, S., Agata, S., Vaszko, T., Weaver, J., Stavropoulou, A. V., Buys, S. S., Romero, A., de la Hoya, M., Aittomaki, K., Muranen, T. A., Duran, M., Chung, W. K., Lasa, A., Dorfling, C. M., Miron, A., Benitez, J., Senter, L., Huo, D., Chan, S. B., Sokolenko, A. P., Chiquette, J., Tihomirova, L., Friebel, T. M., Agnarsson, B. A., Lu, K. H., Lejbkowicz, F., James, P. A., Hall, P., Dunning, A. M., Tessier, D., Cunningham, J., Slager, S. L., Wang, C., Hart, S., Stevens, K., Simard, J., Pastinen, T., Pankratz, V. S., Offit, K., Easton, D. F., Chenevix-Trench, G. & Antoniou, A. C., Mar 2013, In : Plos Genetics. 9, 3

Research output: Contribution to journalArticleAcademicpeer-review

8 Citations (Scopus)

PGD for hereditary breast and ovarian cancer: the route to universal tests for BRCA1 and BRCA2 mutation carriers

Drusedau, M., Dreesen, J. C., Derks-Smeets, I., Coonen, E., van Golde, R., van Echten-Arends, J., Kastrop, P. M. M., Blok, M. J., Gomez-Garcia, E., Geraedts, J. P., Smeets, H. J., de Die-Smulders, C. E. & Paulussen, A. D., Dec 2013, In : European Journal of Human Genetics. 21, 12, p. 1361-1368

Research output: Contribution to journalArticleAcademicpeer-review

9 Citations (Scopus)

Somatic mosaicism in a mother of two children with Pitt-Hopkins syndrome

Steinbusch, C. V. M., van Roozendaal, K. E. P., Tserpelis, D., Smeets, E. E. J., Kranenburg-de Koning, T. J., de Waal, K. H., Zweier, C., Rauch, A., Hennekam, R. C. M., Blok, M. J. & Schrander-Stumpel, C. T. R. M., Jan 2013, In : Clinical Genetics. 83, 1, p. 73-77

Research output: Contribution to journalArticleAcademicpeer-review

2012

A guide for functional analysis of BRCA1 variants of uncertain significance

Millot, G. A., Carvalho, M. A., Caputo, S. M., Vreeswijk, M. P. G., Brown, M. A., Webb, M., Rouleau, E., Neuhausen, S. L., Hansen, T. V. O., Galli, A., Brandao, R. D., Blok, M. J., Velkova, A., Couch, F. J. & Monteiro, A. N., Nov 2012, In : Human Mutation. 33, 11, p. 1526-1537

Research output: Contribution to journalArticleAcademicpeer-review

26 Citations (Scopus)

Common Variants at the 19p13.1 and ZNF365 Loci Are Associated with ER Subtypes of Breast Cancer and Ovarian Cancer Risk in BRCA1 and BRCA2 Mutation Carriers

Couch, F. J., Gaudet, M. M., Antoniou, A. C., Ramus, S. J., Kuchenbaecker, K. B., Soucy, P., Beesley, J., Chen, X., Wang, X., Kirchhoff, T., McGuffog, L., Barrowdale, D., Lee, A., Healey, S., Sinilnikova, O. M., Andrulis, I. L., Ozcelik, H., Mulligan, A. M., Thomassen, M., Gerdes, A-M. & 170 others, Jensen, U. B., Skytte, A-B., Kruse, T. A., Caligo, M. A., von Wachenfeldt, A., Barbany-Bustinza, G., Loman, N., Soller, M., Ehrencrona, H., Karlsson, P., Nathanson, K. L., Rebbeck, T. R., Domchek, S. M., Jakubowska, A., Lubinski, J., Jaworska, K., Durda, K., Zlowocka, E., Huzarski, T., Byrski, T., Gronwald, J., Cybulski, C., Gorski, B., Osorio, A., Duran, M., Isabel Tejada, M., Benitez, J., Hamann, U., Hogervorst, F. B. L., van Os, T. A., van Leeuwen, F. E., Meijers-Heijboer, H. E. J., Wijnen, J., Blok, M. J., Kets, M., Hooning, M. J., Oldenburg, R. A., Ausems, M. G. E. M., Peock, S., Frost, D., Ellis, S. D., Platte, R., Fineberg, E., Evans, D. G., Jacobs, C., Eeles, R. A., Adlard, J., Davidson, R., Eccles, D. M., Cole, T., Cook, J., Paterson, J., Brewer, C., Douglas, F., Hodgson, S. V., Morrison, P. J., Walker, L., Porteous, M. E., Kennedy, M. J., Side, L. E., Bove, B., Godwin, A. K., Stoppa-Lyonnet, D., Fassy-Colcombet, M., Castera, L., Cornelis, F., Mazoyer, S., Leone, M., Boutry-Kryza, N., Bressac-de Paillerets, B., Caron, O., Pujol, P., Coupier, I., Delnatte, C., Akloul, L., Lynch, H. T., Snyder, C. L., Buys, S. S., Daly, M. B., Terry, M., Chung, W. K., John, E. M., Miron, A., Southey, M. C., Hopper, J. L., Goldgar, D. E., Singer, C. F., Rappaport, C., Tea, M-K. M., Fink-Retter, A., Hansen, T. V. O., Nielsen, F. C., Arason, A., Vijai, J., Shah, S., Sarrel, K., Robson, M. E., Piedmonte, M., Phillips, K., Basil, J., Rubinstein, W. S., Boggess, J., Wakeley, K., Ewart-Toland, A., Montagna, M., Agata, S., Imyanitov, E. N., Isaacs, C., Janavicius, R., Lazaro, C., Blanco, I., Feliubadalo, L., Brunet, J., Gayther, S. A., Pharoah, P. P. D., Odunsi, K. O., Karlan, B. Y., Walsh, C. S., Olah, E., Teo, S. H., Ganz, P. A., Beattie, M. S., van Rensburg, E. J., Dorfling, C. M., Diez, O., Kwong, A., Schmutzler, R. K., Wappenschmidt, B., Engel, C., Meindl, A., Ditsch, N., Arnold, N., Heidemann, S., Niederacher, D., Preisler-Adams, S., Gadzicki, D., Varon-Mateeva, R., Deissler, H., Gehrig, A., Sutter, C., Kast, K., Fiebig, B., Heinritz, W., Caldes, T., de la Hoya, M., Muranen, T. A., Nevanlinna, H., Tischkowitz, M., Spurdle, A. B., Neuhausen, S. L., Ding, Y. C., Lindor, N. M., Fredericksen, Z., Pankratz, V. S., Peterlongo, P., Manoukian, S., Peissel, B., Zaffaroni, D., Barile, M., Bernard, L., Viel, A., Giannini, G., Varesco, L., Radice, P., Greene, M. H., Mai, P. L., Easton, D. F., Chenevix-Trench, G., Offit, K. & Simard, J., Apr 2012, In : Cancer Epidemiology Biomarkers & Prevention. 21, 4, p. 645-657

Research output: Contribution to journalArticleAcademicpeer-review

1 Citation (Scopus)

Detection of exon skipping events in BRCA1 RNA using MLPA kit P002

Brandao, R. D., Tserpelis, D., Garcia, E. G. & Blok, M. J., Jul 2012, In : Molecular Biology Reports. 39, 7, p. 7429-7433

Research output: Contribution to journalArticleAcademicpeer-review

13 Citations (Scopus)

Evaluation of RAD51C as cancer susceptibility gene in a large breast-ovarian cancer patient population referred for genetic testing

De Leeneer, K., Van Bockstal, M., De Brouwer, S., Swietek, N., Schietecatte, P., Sabbaghian, N., Van den Ende, J., Willocx, S., Storm, K., Blaumeiser, B., Van Asperen, C. J., Wijnen, J. T., Leunen, K., Legius, E., Michils, G., Matthijs, G., Blok, M. J., Gomez-Garcia, E., De Paepe, A., Tischkowitz, M. & 2 others, Poppe, B. & Claes, K., May 2012, In : Breast Cancer Research and Treatment. 133, 1, p. 393-398

Research output: Contribution to journalArticleAcademicpeer-review

106 Citations (Scopus)

MAX Mutations Cause Hereditary and Sporadic Pheochromocytoma and Paraganglioma

Burnichon, N., Cascon, A., Schiavi, F., Morales, N. P., Comino-Mendez, I., Abermil, N., Inglada-Perez, L., de Cubas, A. A., Amar, L., Barontini, M., de Quiros, S. B., Bertherat, J., Bignon, Y-J., Blok, M. J., Bobisse, S., Borrego, S., Castellano, M., Chanson, P., Chiara, M-D., Corssmit, E. P. M. & 41 others, Giacche, M., de Krijger, R. R., Ercolino, T., Girerd, X., Gomez-Garcia, E. B., Gomez-Grana, A., Guilhem, I., Hes, F. J., Honrado, E., Korpershoek, E., Lenders, J. W. M., Leton, R., Mensenkamp, A. R., Merlo, A., Mori, L., Murat, A., Pierre, P., Plouin, P-F., Prodanov, T., Quesada-Chameco, M., Qin, N., Rapizzi, E., Raymond, V., Reisch, N., Roncador, G., Ruiz-Ferrer, M., Schillo, F., Stegmann, A. P. A., Suarez, C., Taschin, E., Timmers, H. J. L. M., Tops, C. M. J., Urioste, M., Beuschlein, F., Pacak, K., Mannelli, M., Dahia, P. L. M., Opocher, G., Eisenhofer, G., Gimenez-Roqueplo, A-P. & Robledo, M., 15 May 2012, In : Clinical Cancer Research. 18, 10, p. 2828-2837

Research output: Contribution to journalArticleAcademicpeer-review

2011

Characterisation of unclassified variants in the BRCA1/2 genes with a putative effect on splicing

Brandao, R. D., van Roozendaal, K., Tserpelis, D., Garcia, E. G. & Blok, M. J., Oct 2011, In : Breast Cancer Research and Treatment. 129, 3, p. 971-982

Research output: Contribution to journalArticleAcademicpeer-review

Common alleles at 6q25.1 and 1p11.2 are associated with breast cancer risk for BRCA1 and BRCA2 mutation carriers

Gomez Garcia, E., van Roozendaal, K. & Blok, M., 15 Aug 2011, In : Human Molecular Genetics. 20, 16, p. 3304-3321

Research output: Contribution to journalArticleAcademicpeer-review

Common Genetic Variation at BARD1 Is Not Associated with Breast Cancer Risk in BRCA1 or BRCA2 Mutation Carriers

Spurdle, A. B., Marquart, L., McGuffog, L., Healey, S., Sinilnikova, O. M., Wan, F., Chen, X., Beesley, J., Singer, C. F., Dressler, A-C., Gschwantler-Kaulich, D., Blum, J. L., Tung, N., Weitzel, J., Lynch, H. T., Garber, J., Easton, D. F., Peock, S., Cook, M., Oliver, C. T. & 58 others, Frost, D., Conroy, D., Evans, D. G., Lalloo, F., Eeles, R., Izatt, L., Davidson, R., Chu, C., Eccles, D., Selkirk, C. G., Daly, M. B., Isaacs, C., Stoppa-Lyonnet, D., Sinilnikova, O. M., Buecher, B., Belotti, M., Mazoyer, S., Barjhoux, L., Verny-Pierre, C., Lasset, C., Dreyfus, H., Pujol, P., Collonge-Rame, M-A., Rookus, M. A., Verhoef, S., Kriege, M., Hoogerbrugge, N., Ausems, M. G. E. M., Os, T. A. M., Wijnen, J. T., Devilee, P., Meijers-Heijboer, H. E. J., Blok, M. J., Heikkinen, T., Nevanlinna, H., Jakubowska, A., Lubinski, J., Huzarski, T., Byrski, T., Durocher, F., Couch, F. J., Lindor, N. M., Wang, X., Thomassen, M., Domchek, S., Nathanson, K., Caligo, M. A., Jernstrom, H., Liljegren, A., Ehrencrona, H., Karlsson, P., Ganz, P. A., Olopade, O. I., Tomlinson, G. E., Neuhausen, S. L., Antoniou, A. C., Chenevix-Trench, G. & Rebbeck, T. R., May 2011, In : Cancer Epidemiology Biomarkers & Prevention. 20, 5, p. 1032-1038

Research output: Contribution to journalArticleAcademicpeer-review

Exploring the link between MORF4L1 and risk of breast cancer

van Roozendaal, K. & Gomez Garcia, E., 2011, In : Breast Cancer Research. 13, 2

Research output: Contribution to journalArticleAcademicpeer-review

Genetic Variation at 9p22.2 and Ovarian Cancer Risk for BRCA1 and BRCA2 Mutation Carriers

Gomez Garcia, E., Jan 2011, In : Journal of the National Cancer Institute. 103, 2

Research output: Contribution to journalArticleAcademicpeer-review

Haplotype structure in Ashkenazi Jewish BRCA1 and BRCA2 mutation carriers

Im, K. M., Kirchhoff, T., Wang, X., Green, T., Chow, C. Y., Vijai, J., Korn, J., Gaudet, M. M., Fredericksen, Z., Pankratz, V. S., Guiducci, C., Crenshaw, A., McGuffog, L., Kartsonaki, C., Morrison, J., Healey, S., Sinilnikova, O. M., Mai, P. L., Greene, M. H., Piedmonte, M. & 97 others, Rubinstein, W. S., Hogervorst, F. B. L., Rookus, M. A., Collee, M. J., Hoogerbrugge, N., van Asperen, C. J., Meijers-Heijboer, H. E. J., van Roozendaal, C. E., Caldes, T., Perez Segura, P., Jakubowska, A., Lubinski, J., Huzarski, T., Blecharz, P., Nevanlinna, H., Aittomaki, K., Lazaro, C., Blanco, I., Barkardottir, R. B., Montagna, M., D'Andrea, E., Devilee, P., Olopade, O. I., Neuhausen, S. L., Peissel, B., Bonanni, B., Peterlongo, P., Singer, C. F., Rennert, G., Lejbkowicz, F., Andrulis, I. L., Glendon, G., Ozcelik, H., Toland, A. E., Caligo, M. A., Beattie, M. S., Chan, S. B., Domchek, S. M., Nathanson, K. L., Rebbeck, T. R., Phelan, C. M., Narod, S. A., John, E. M., Hopper, J. L., Buys, S., Daly, M. B., Southey, M. C., Terry, M. B., Tung, N., Hansen, T. V. O., Osorio, A., Benitez, J., Duran, M., Weitzel, J. N., Garber, J., Hamann, U., Peock, S., Cook, M., Oliver, C. T., Frost, D., Platte, R., Evans, D. G., Eeles, R., Izatt, L., Paterson, J., Brewer, C., Hodgson, S. V., Morrison, P. J., Porteous, M. E., Walker, L., Rogers, M. T., Side, L. E., Godwin, A. K., Schmutzler, R. K., Wappenschmidt, B., Laitman, Y., Meindl, A., Deissler, H., Varon-Mateeva, R., Preisler-Adams, S., Kast, K., Venat-Bouvet, L., Stoppa-Lyonnet, D., Chenevix-Trench, G., Easton, D. F., Klein, R. J., Daly, M. J., Friedman, E., Dean, M., Clark, A. G., Altshuler, D. M., Antoniou, A. C., Couch, F. J., Offit, K., Gomez Garcia, E., Blok, M. & Gold, B., Nov 2011, In : Human Genetics. 130, 5, p. 685-699

Research output: Contribution to journalArticleAcademicpeer-review

MLL2 Mutation Spectrum in 45 Patients with Kabuki Syndrome

Paulussen, A. D. C., Stegmann, A. P. A., Blok, M. J., Tserpelis, D., Posma-Velter, C., Detisch, Y., Smeets, E. E. J. G. L., Wagemans, A. M. A., Schrander, J. J. P., van den Boogaard, M. J. H., van der Smagt, J. J., van Haeringen, A., Stolte-Dijkstra, I., Kerstjens-Frederikse, W. S., Mancini, G. M. S., Wessels, M. W., Hennekam, R. C. M., Vreeburg, M., Geraedts, J., de Ravel, T. & 4 others, Fryns, J-P., Smeets, H. J. T., Devriendt, K. & Schrander-Stumpel, C. T. R. M., Feb 2011, In : Human Mutation. 32, 2, p. E2018-E2025

Research output: Contribution to journalArticleAcademicpeer-review

Common Breast Cancer Susceptibility Alleles and the Risk of Breast Cancer for BRCA1 and BRCA2 Mutation Carriers: Implications for Risk Prediction

Antoniou, A. C., Beesley, J., McGuffog, L., Sinilnikova, O. M., Healey, S., Neuhausen, S. L., Ding, Y. C., Rebbeck, T. R., Weitzel, J. N., Lynch, H. T., Isaacs, C., Ganz, P. A., Tomlinson, G. E., Olopade, O. I., Couch, F. J., Wang, X., Lindor, N. M., Pankratz, V. S., Radice, P., Manoukian, S. & 158 others, Peissel, B., Zaffaroni, D., Barile, M., Viel, A., Allavena, A., Dall'Olio, V., Peterlongo, P., Szabo, C. I., Zikan, M., Claes, K., Poppe, B., Foretova, L., Mai, P. L., Greene, M. H., Rennert, G., Lejbkowicz, F., Glendon, G., Ozcelik, H., Andrulis, I. L., Thomassen, M., Gerdes, A-M., Sunde, L., Cruger, D., Jensen, U. B., Caligo, M. A., Friedman, E., Kaufman, B., Laitman, Y., Milgrom, R., Dubrovsky, M., Cohen, S., Borg, A., Jernstroem, H., Lindblom, A., Rantala, J., Stenmark-Askmalm, M., Melin, B., Nathanson, K., Domchek, S., Jakubowska, A., Lubinski, J., Huzarski, T., Osorio, A., Lasa, A., Duran, M., Tejada, M-I., Godino, J., Benitez, J., Hamann, U., Kriege, M., Hoogerbrugge, N., van der Luijt, R. B., van Asperen, C. J., Devilee, P., Meijers-Heijboer, H. E. J., Blok, M. J., Aalfs, C. M., Hogervorst, F. B. L., Rookus, M. A., Cook, M., Oliver, C., Frost, D., Conroy, D., Evans, D. G., Lalloo, F., Pichert, G., Davidson, R., Cole, T., Cook, J., Paterson, J., Hodgson, S. V., Morrison, P. J., Porteous, M. E., Walker, L., Kennedy, M. J., Dorkins, H., Peock, S., Godwin, A. K., Stoppa-Lyonnet, D., de Pauw, A., Mazoyer, S., Bonadona, V., Lasset, C., Dreyfus, H., Leroux, D., Hardouin, A., Berthet, P., Faivre, L., Loustalot, C., Noguchi, T., Sobol, H., Rouleau, E., Nogues, C., Frenay, M., Venat-Bouvet, L., Hopper, J. L., Daly, M. B., Terry, M. B., John, E. M., Buys, S., Yassin, Y., Miron, A., Goldgar, D. E., Singer, C. F., Dressler, A. C., Gschwantler-Kaulich, D., Pfeiler, G., Hansen, T. V. O., Jnson, L., Agnarsson, B. A., Kirchhoff, T., Offit, K., Devlin, V., Dutra-Clarke, A., Piedmonte, M., Rodriguez, G. C., Wakeley, K., Boggess, J. F., Basil, J., Schwartz, P. E., Blank, S. V., Toland, A. E., Montagna, M., Casella, C., Imyanitov, E. N., Tihomirova, L., Blanco, I., Lazaro, C., Ramus, S. J., Sucheston, L., Karlan, B. Y., Gross, J., Schmutzler, R., Wappenschmidt, B., Engel, C., Meindl, A., Lochmann, M., Arnold, N., Heidemann, S., Varon-Mateeva, R., Niederacher, D., Sutter, C., Deissler, H., Gadzicki, D., Preisler-Adams, S., Kast, K., Schoenbuchner, I., Caldes, T., De La Hoya, M., Aittomaeki, K., Nevanlinna, H., Simard, J., Spurdle, A. B., Holland, H., Chen, X., Platte, R., Chenevix-Trench, G. & Easton, D. F., 1 Dec 2010, In : Cancer Research. 70, 23, p. 9742-9754

Research output: Contribution to journalArticleAcademicpeer-review

12 Citations (Scopus)

Efficiency of BRCAPRO and Myriad II mutation probability thresholds versus cancer history criteria alone for BRCA1/2 mutation detection

van Harssel, J. J., van Roozendaal, C. E., Detisch, Y., Brandao, R. D., Paulussen, A. D. C., Zeegers, M. P. A., Blok, M. J. & Gomez Garcia, E. B., Jun 2010, In : Familial Cancer. 9, 2, p. 193-201 9 p.

Research output: Contribution to journalArticleAcademicpeer-review

2007

Impact of two functional progesterone receptor polymorphisms (PRP): +331G/A and PROGINS on the cancer risks in familial breast/ovarian cancer

Romano, A., Baars, H., Martens, R. X., Brandao, R. D., Detisch, Y., Jongen, E., Blok, M. J., Lindsey, P. J., Fischer, D. C. & Gomez-Garcia, E. B., 1 Jan 2007, In : The Open Cancer Journal. 1, p. 1-8

Research output: Contribution to journalArticleAcademicpeer-review

2005
2 Citations (Scopus)

No evidence to support an association of PER3 clock gene polymorphism with ADHD-related idiopathic chronic sleep onset insomnia

van der Heijden, K. B., Blok, M. J., Spee, K., Archer, S. N., Smits, M. G., Gunning, B. & Curfs, L. M. G., 1 Jan 2005, In : Biological Rhythm Research. 36, p. 381-388

Research output: Contribution to journalArticleAcademicpeer-review

2001
189 Downloads (Pure)

Monitoring the course of CMV infection by detection of specific viral transcripts

Blok, M. J., 1 Jan 2001, Maastricht: Universiteit Maastricht. 148 p.

Research output: ThesisDoctoral ThesisInternal

Open Access
File
1998
80 Citations (Scopus)

Diagnostic value of monitoring human cytomegalovirus late pp67 mRNA expression in renal-allograft recipients by nucleic acid sequence-based amplification.

Blok, M. J., Goossens, V. J., Vanherle, S. J. V., Top, B., Tacken, N., Middeldorp, M. J., Christiaans, M. H., van Hooff, J. P. & Bruggeman, C. A. M. V. A., 1 Jan 1998, In : Journal of Clinical Microbiology. 36, 5, p. 1341-1346 6 p.

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