Quinten Waisfisz

2016

Functional mechanisms underlying pleiotropic risk alleles at the 19p13.1 breast-ovarian cancer susceptibility locus

Lawrenson, K., Kar, S., McCue, K., Kuchenbaeker, K., Michailidou, K., Tyrer, J., Beesley, J., Ramus, S. J., Li, Q., Delgado, M. K., Lee, J. M., Aittomäki, K., Andrulis, I. L., Anton-Culver, H., Arndt, V., Arun, B. K., Arver, B., Bandera, E. V., Barile, M., Barkardottir, R. B., & 396 othersBarrowdale, D., Beckmann, M. W., Benitez, J., Berchuck, A., Bisogna, M., Bjorge, L., Blomqvist, C., Blot, W., Bogdanova, N., Bojesen, A., Bojesen, S. E., Bolla, M. K., Bonanni, B., Børresen-Dale, A. L., Brauch, H., Brennan, P., Brenner, H., Bruinsma, F., Brunet, J., Buhari, S. A., Burwinkel, B., Butzow, R., Buys, S. S., Cai, Q., Caldes, T., Campbell, I., Canniotto, R., Chang-Claude, J., Chiquette, J., Choi, J. Y., Claes, K. B. M., Cook, L. S., Cox, A., Cramer, D. W., Cross, S. S., Cybulski, C., Czene, K., Daly, M. B., Damiola, F., Dansonka-Mieszkowska, A., Darabi, H., Dennis, J., Devilee, P., Diez, O., Doherty, J. A., Domchek, S. M., Dorfling, C. M., Dörk, T., Dumont, M., Ehrencrona, H., Ejlertsen, B., Ellis, S., Engel, C., Lee, E., Evans, D. G., Fasching, P. A., Feliubadalo, L., Figueroa, J., Flesch-Janys, D., Fletcher, O., Flyger, H., Foretova, L., Fostira, F., Foulkes, W. D., Fridley, B. L., Friedman, E., Frost, D., Gambino, G., Ganz, P. A., Garber, J., García-Closas, M., Gentry-Maharaj, A., Ghoussaini, M., Giles, G. G., Glasspool, R., Godwin, A. K., Goldberg, M. S., Goldgar, D. E., González-Neira, A., Goode, E. L., Goodman, M. T., Greene, M. H., Gronwald, J., Guénel, P., Haiman, C. A., Hall, P., Hallberg, E., Hamann, U., Hansen, T. V. O., Harrington, P. A., Hartman, M., Hassan, N., Healey, S., Heitz, F., Herzog, J., Høgdall, E., Høgdall, C. K., Hogervorst, F. B. L., Hollestelle, A., Hopper, J. L., Hulick, P. J., Huzarski, T., Imyanitov, E. N., Isaacs, C., Ito, H., Jakubowska, A., Janavicius, R., Jensen, A., John, E. M., Johnson, N., Kabisch, M., Kang, D., Kapuscinski, M., Karlan, B. Y., Khan, S., Kiemeney, L. A., Kjaer, S. K., Knight, J. A., Konstantopoulou, I., Kosma, V. M., Kristensen, V., Kupryjanczyk, J., Kwong, A., De La Hoya, M., Laitman, Y., Lambrechts, D., Le, N., De Leeneer, K., Lester, J., Levine, D. A., Li, J., Lindblom, A., Long, J., Lophatananon, A., Loud, J. T., Lu, K., Lubinski, J., Mannermaa, A., Manoukian, S., Le Marchand, L., Margolin, S., Marme, F., Massuger, L. F. A. G., Matsuo, K., Mazoyer, S., McGuffog, L., McLean, C., McNeish, I., Meindl, A., Menon, U., Mensenkamp, A. R., Milne, R. L., Montagna, M., Moysich, K. B., Muir, K., Mulligan, A. M., Nathanson, K. L., Ness, R. B., Neuhausen, S. L., Nevanlinna, H., Nord, S., Nussbaum, R. L., Odunsi, K., Offit, K., Olah, E., Olopade, O. I., Olson, J. E., Olswold, C., O'Malley, D., Orlow, I., Orr, N., Osorio, A., Park, S. K., Pearce, C. L., Pejovic, T., Peterlongo, P., Pfeiler, G., Phelan, C. M., Poole, E. M., Pylkäs, K., Radice, P., Rantala, J., Rashid, M. U., Rennert, G., Rhenius, V., Rhiem, K., Risch, H. A., Rodriguez, G., Rossing, M. A., Rudolph, A., Salvesen, H. B., Sangrajrang, S., Sawyer, E. J., Schildkraut, J. M., Schmidt, M. K., Schmutzler, R. K., Sellers, T. A., Seynaeve, C., Shah, M., Shen, C. Y., Shu, X. O., Sieh, W., Singer, C. F., Sinilnikova, O. M., Slager, S., Song, H., Soucy, P., Southey, M. C., Stenmark-Askmalm, M., Stoppa-Lyonnet, D., Sutter, C., Swerdlow, A., Tchatchou, S., Teixeira, M. R., Teo, S. H., Terry, K. L., Terry, M. B., Thomassen, M., Tibiletti, M. G., Tihomirova, L., Tognazzo, S., Toland, A. E., Tomlinson, I., Torres, D., Truong, T., Tseng, C. C., Tung, N., Tworoger, S. S., Vachon, C., Van Den Ouweland, A. M. W., Van Doorn, H. C., Van Rensburg, E. J., Van't Veer, L. J., Vanderstichele, A., Vergote, I., Vijai, J., Wang, Q., Wang-Gohrke, S., Weitzel, J. N., Wentzensen, N., Whittemore, A. S., Wildiers, H., Winqvist, R., Wu, A. H., Yannoukakos, D., Yoon, S. Y., Yu, J. C., Zheng, W., Zheng, Y., Khanna, K. K., Simard, J., Monteiro, A. N., French, J. D., Couch, F. J., Freedman, M. L., Easton, D. F., Dunning, A. M., Pharoah, P. D., Edwards, S. L., Chenevix-Trench, G., Antoniou, A. C., Gayther, S. A., Bowtell, D., DeFazio, A., Webb, P., Collonge-Rame, M. A., Damette, A., Barouk-Simonet, E., Bonnet, F., Bubien, V., Sevenet, N., Longy, M., Berthet, P., Vaur, D., Castera, L., Ferrer, S. F., Bignon, Y. J., Uhrhammer, N., Coron, F., Faivre, L., Baurand, A., Jacquot, C., Bertolone, G., Lizard, S., Leroux, D., Dreyfus, H., Rebischung, C., Peysselon, M., Peyrat, J. P., Fournier, J., Révillion, F., Adenis, C., Vénat-Bouvet, L., Léone, M., Boutry-Kryza, N., Calender, A., Giraud, S., Verny-Pierre, C., Lasset, C., Bonadona, V., Barjhoux, L., Sobol, H., Bourdon, V., Noguchi, T., Remenieras, A., Coupier, I., Pujol, P., Sokolowska, J., Bronner, M., Delnatte, C., Bézieau, S., Mari, V., Gauthier-Villars, M., Buecher, B., Rouleau, E., Golmard, L., Moncoutier, V., Belotti, M., De Pauw, A., Elan, C., Fourme, E., Birot, A. M., Saule, C., Laurent, M., Houdayer, C., Lesueur, F., Mebirouk, N., Coulet, F., Colas, C., Soubrier, F., Warcoin, M., Prieur, F., Lebrun, M., Kientz, C., Muller, D., Fricker, J. P., Toulas, C., Guimbaud, R., Gladieff, L., Feillel, V., Mortemousque, I., Bressac-De-Paillerets, B., Caron, O., Guillaud-Bataille, M., Gregory, H., Miedzybrodzka, Z., Morrison, P. J., Donaldson, A., Rogers, M. T., Kennedy, M. J., Porteous, M. E., Brady, A., Barwell, J., Foo, C., Lalloo, F., Side, L. E., Eason, J., Henderson, A., Walker, L., Cook, J., Snape, K., Murray, A., McCann, E., Rookus, M. A., Van Leeuwen, F. E., Van Der Kolk, L. E., Schmidt, M. K., Russell, N. S., De Lange, J. L., Wijnands, R., Collée, J. M., Hooning, M. J., Seynaeve, C., Van Deurzen, C. H. M., Obdeijn, I. M., Van Asperen, C. J., Tollenaar, R. A. E. M., Van Cronenburg, T. C. T. E. F., Kets, C. M., Ausems, M. G. E. M., Van Der Pol, C. C., Van Os, T. A. M., Waisfisz, Q., Meijers-Heijboer, H. E. J., Gómez-Garcia, E. B., Oosterwijk, J. C., Mourits, M. J., De Bock, G. H., Vasen, H. F., Siesling, S., Verloop, J., Overbeek, L. I. H., Fox, S., Kirk, J., Lindeman, G. & Price, M., 7 Sept 2016, In: Nature communications. 7, 12675.

Research output: Contribution to journal › Article › Academic › peer-review

59 Citations (Scopus)

Loss-of-Function Mutations in FRRS1L Lead to an Epileptic-Dyskinetic Encephalopathy

Madeo, M., Stewart, M., Sun, Y., Sahir, N., Wiethoff, S., Chandrasekar, I., Yarrow, A., Rosenfeld, J. A., Yang, Y., Cordeiro, D., McCormick, E. M., Muraresku, C. C., Jepperson, T. N., McBeth, L. J., Seidahmed, M. Z., El Khashab, H. Y., Hamad, M., Azzedine, H., Clark, K., Corrochano, S., & 21 othersWells, S., Elting, M. W., Weiss, M. M., Burn, S., Myers, A., Landsverk, M., Crotwell, P. L., Waisfisz, Q., Wolf, N. I., Nolan, P. M., Padilla-Lopez, S., Houlden, H., Lifton, R., Mane, S., Singh, B. B., Falk, M. J., Mercimek-Mahmutoglu, S., Bilguvar, K., Salih, M. A., Acevedo-Arozena, A. & Kruer, M. C., 2 Jun 2016, In: American journal of human genetics. 98, 6, p. 1249-1255

Research output: Contribution to journal › Article › Academic › peer-review

36 Citations (Scopus)

Mendelian randomization study of adiposity-related traits and risk of breast, ovarian, prostate, lung and colorectal cancer

On behalf of: the Colorectal Transdisciplinary Study (CORECT), Discovery, Biology and Risk of Inherited Variants in Breast Cancer (DRIVE), Elucidating Loci Involved in Prostate Cancer Susceptibility (ELLIPSE), Follow-up of Ovarian Cancer Genetic Association and Interaction Studies (FOCI) & Transdisciplinary Research in Cancer of the Lung (TRICL), 1 Jun 2016, In: International journal of epidemiology. 45, 3, p. 896-908 13 p.

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Open Access

113 Citations (Scopus)

Missense-depleted regions in population exomes implicate ras superfamily nucleotide-binding protein alteration in patients with brain malformation

Ge, X., Gong, H., Dumas, K., Litwin, J., Phillips, J. J., Waisfisz, Q., Weiss, M. M., Hendriks, Y., Stuurman, K. E., Nelson, S. F., Grody, W. W., Lee, H., Kwok, P-Y. & Shieh, J. T. C., 5 Oct 2016, In: NPJ GENOMIC MEDICINE. 1

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37 Citations (Scopus)

2015

Altered PLP1 splicing causes hypomyelination of early myelinating structures

Kevelam, S. H., Taube, J. R., van Spaendonk, R. M. L., Bertini, E., Sperle, K., Tarnopolsky, M., Tonduti, D., Valente, E. M., Travaglini, L., Sistermans, E. A., Bernard, G., Catsman-Berrevoets, C. E., van Karnebeek, C. D. M., Ostergaard, J. R., Friederich, R. L., Elsaid, M. F., Schieving, J. H., Tarailo-Graovac, M., Orcesi, S., Steenweg, M. E., & 8 othersvan Berkel, C. G. M., Waisfisz, Q., Abbink, G. E. M., Knaap, M., Hobson, G. M., Wolf, N. I., Østergaard, J. R. & Abbink, T. E. M., 2015, In: Annals of clinical and translational neurology. 2, 6, p. 648-661

Research output: Contribution to journal › Article › Academic › peer-review

Open Access

26 Citations (Scopus)

Early-Onset Severe Encephalopathy with Epilepsy: The BRAT1 Gene Should Be Added to the List of Causes

van de Pol, L. A., Wolf, N. I., van Weissenbruch, M. M., Stam, C. J., Weiss, J. M., Waisfisz, Q., Kevelam, S. H., Bugiani, M., van de Kamp, J. M. & van der Knaap, M. S., 2015, In: Neuropediatrics. 46, 6, p. 392-400

Research output: Contribution to journal › Article › Academic › peer-review

18 Citations (Scopus)

Genome-wide association analysis of more than 120,000 individuals identifies 15 new susceptibility loci for breast cancer

Michailidou, K., Beesley, J., Lindstrom, S., Canisius, S., Dennis, J., Lush, M. J., Maranian, M. J., Bolla, M. K., Wang, Q., Shah, M., Perkins, B. J., Czene, K., Eriksson, M., Darabi, H., Brand, J. S., Bojesen, S. E., Nordestgaard, B. G., Flyger, H., Nielsen, S. F., Rahman, N., & 81 othersTurnbull, C., Fletcher, O., Peto, J., Gibson, L., dos-Santos-Silva, I., Chang-Claude, J., Flesch-Janys, D., Rudolph, A., Eilber, U., Behrens, S., Nevanlinna, H., Muranen, T. A., Aittomaki, K., Blomqvist, C., Khan, S. I., Aaltonen, K., Ahsan, H., Kibriya, M. G., Whittemore, A. S., John, E. M., Malone, K. E., Gammon, M. D., Santella, R. M., Ursin, G., Makalic, E., Schmidt, D. F., Casey, G., Hunter, D. J., Gapstur, S. M., Gaudet, M. M., Diver, W. R., Haiman, C. A., Schumacher, F., Henderson, B. E., Le Marchand, L., Berg, C. D., Chanock, S. J., Figueroa, J., Hoover, R. N., Lambrechts, D., Neven, P., Wildiers, H., van Limbergen, E., Schmidt, M. K., Broeks, A., Verhoef, S., Cornelissen, S., Couch, F. J., Olson, J. E., Hallberg, E., Vachon, C., Waisfisz, Q., Meijers-Heijboer, H., Adank, M. A., van der Luijt, R. B., Li, J. M., Liu, J. J., Humphreys, K., Kang, D., Choi, J. Y., Park, S. K., Yoo, K. Y., Matsuo, K., Ito, H., Iwata, H., Tajima, K., Guenel, P., Truong, T., Mulot, C., Sanchez, M., Burwinkel, B., Marme, F., Surowy, H., Sohn, C., Wu, A. H., Tseng, C. C., Berg, D., Stram, D. O., Gonzalez-Neira, A., Hall, P. & Easton, D. F., 2015, In: Nature Genetics. 47, 4, p. 373-380

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440 Citations (Scopus)

Genomic profiling of CHEK2*1100delC-mutated breast carcinomas

Massink, M. P. G., Kooi, I. E., Martens, J. W. M., Waisfisz, Q., Meijers-Heijboer, H. & Kooi, E. I., 2015, In: BMC Cancer. 15, p. 877 877.

Research output: Contribution to journal › Article › Academic › peer-review

38 Citations (Scopus)

Identification and characterization of novel associations in the CASP8/ALS2CR12 region on chromosome 2 with breast cancer risk

Lin, W-Y., Camp, N. J., Ghoussaini, M., Beesley, J., Michailidou, K., Hopper, J. L., Apicella, C., Southey, M. C., Stone, J., Schmidt, M. K., Broeks, A., van't Veer, L. J., Th Rutgers, E. J., Muir, K., Lophatananon, A., Stewart-Brown, S., Siriwanarangsan, P., Fasching, P. A., Haeberle, L., Ekici, A. B., & 204 othersBeckmann, M. W., Peto, J., Dos-Santos-Silva, I., Fletcher, O., Johnson, N., Bolla, M. K., Wang, Q., Dennis, J., Sawyer, E. J., Cheng, T., Tomlinson, I., Kerin, M. J., Miller, N., Marmé, F., Surowy, H. M., Burwinkel, B., Guénel, P., Truong, T., Menegaux, F., Mulot, C., Bojesen, S. E., Nordestgaard, B. G., Nielsen, S. F., Flyger, H., Benitez, J., Zamora, M. P., Arias Perez, J. I., Menéndez, P., González-Neira, A., Pita, G., Alonso, M. R., Alvarez, N., Herrero, D., Anton-Culver, H., Brenner, H., Dieffenbach, A. K., Arndt, V., Stegmaier, C., Meindl, A., Lichtner, P., Schmutzler, R. K., Müller-Myhsok, B., Brauch, H., Brüning, T., Ko, Y-D., Tessier, D. C., Vincent, D., Bacot, F., Nevanlinna, H., Aittomäki, K., Blomqvist, C., Khan, S., Matsuo, K., Ito, H., Iwata, H., Horio, A., Bogdanova, N. V., Antonenkova, N. N., Dörk, T., Lindblom, A., Margolin, S., Mannermaa, A., Kataja, V., Kosma, V-M., Hartikainen, J. M., Wu, A. H., Tseng, C-C., van den Berg, D., Stram, D. O., Neven, P., Wauters, E., Wildiers, H., Lambrechts, D., Chang-Claude, J., Rudolph, A., Seibold, P., Flesch-Janys, D., Radice, P., Peterlongo, P., Manoukian, S., Bonanni, B., Couch, F. J., Wang, X., Vachon, C., Purrington, K., Giles, G. G., Milne, R. L., McLean, C., Haiman, C. A., Henderson, B. E., Schumacher, F., Le Marchand, L., Simard, J., Goldberg, M. S., Labrèche, F., Dumont, M., teo, S. H., Yip, C. H., Hassan, N., Vithana, E. N., Kristensen, V., Zheng, W., Deming-Halverson, S., Shrubsole, M. J., Long, J., Winqvist, R., Pylkäs, K., Jukkola-Vuorinen, A., Kauppila, S., Andrulis, I. L., Knight, J. A., Glendon, G., Tchatchou, S., Devilee, P., Tollenaar, R. A. E. M., Seynaeve, C., van Asperen, C. J., García-Closas, M., Figueroa, J., Lissowska, J., Brinton, L., Czene, K., Darabi, H., Eriksson, M., Brand, J. S., Hooning, M. J., Hollestelle, A., van den Ouweland, A. M. W., Jager, A., Li, J., Liu, J., Humphreys, K., Shu, X-O., Lu, W., Gao, Y-T., Cai, H., Cross, S. S., Reed, M. W. R., Blot, W., Signorello, L. B., Cai, Q., Pharoah, P. D. P., Perkins, B., Shah, M., Blows, F. M., Kang, D., Yoo, K-Y., Noh, D-Y., Hartman, M., Miao, H., Chia, K. S., Putti, T. C., Hamann, U., Luccarini, C., Baynes, C., Ahmed, S., Maranian, M., Healey, C. S., Jakubowska, A., Lubinski, J., Jaworska-Bieniek, K., Durda, K., Sangrajrang, S., Gaborieau, V., Brennan, P., McKay, J., Slager, S., Toland, A. E., Yannoukakos, D., Shen, C-Y., Hsiung, C-N., Wu, P-E., Ding, S-L., Ashworth, A., Jones, M., Orr, N., Swerdlow, A. J., Tsimiklis, H., Makalic, E., Schmidt, D. F., Bui, Q. M., Chanock, S. J., Hunter, D. J., Hein, R., Dahmen, N., Beckmann, L., Aaltonen, K., Muranen, T. A., Heikkinen, T., Irwanto, A., Rahman, N., Turnbull, C. A., Waisfisz, Q., Meijers-Heijboer, H. E. J., Adank, M. A., van der Luijt, R. B., Hall, P., Chenevix-Trench, G., Dunning, A., Easton, D. F., Cox, A., Herrera, D., Aittomaki, K. & Dork, T., 2015, In: Human Molecular Genetics. 24, 1, p. 285-298

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37 Citations (Scopus)

Identification of a Dutch founder mutation in MUSK causing fetal akinesia deformation sequence.

Tan-Sindhunata, M. B., Matthijssen, I. B., Smit, M., Baas, F., de Vries, J. I. P., van der Voorn, J. P., Kluijt, I., Hagen, M. A., Blom, E. W., Sistermans, E. A., Heijboer-Meijers, J. E., Waisfisz, Q., Weiss, M. M., Groffen, A. J. A. & Mathijssen, I. B., 14 Sept 2015, In: European journal of human genetics. 23, 9, p. 1151-1157 7 p.

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Open Access

33 Citations (Scopus)

Modeling Linkage Disequilibrium Increases Accuracy of Polygenic Risk Scores

AUTHOR GROUP, Schizophrenia Working Group of the Psychiatric Genomics Consortium, Psychosis Endophenotypes International Consortium, Wellcome Trust Case-Control Consortium, Discovery, Biology, and Risk of Inherited Variants in Breast Cancer (DRIVE) study & Hereditary Breast and Ovarian Cancer Research Group Netherlands (HEBON), 2015, In: American journal of human genetics. 97, 4, p. 576-592 17 p.

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Open Access

776 Citations (Scopus)

Next-generation sequencing-based genome diagnostics across clinical genetics centers: implementation choices and their effects

Vrijenhoek, T., Kraaijeveld, K., Elferink, M., de Ligt, J., Kranendonk, E., Santen, G., Nijman, I. J., Butler, D., Claes, G., Costessi, A., Dorlijn, W., van Eyndhoven, W., Halley, D. J. J., van den Hout, M. C. G. N., van Hove, S., Johansson, L. F., Jongbloed, J. D. H., Kamps, R., Kockx, C. E. M., de Koning, B., & 29 othersKriek, M., Lekanne Dit Deprez, R., Lunstroo, H., Mannens, M., Mook, O. R., Nelen, M., Ploem, C., Rijnen, M., Saris, J. J., Sinke, R., Sistermans, E., van Slegtenhorst, M., Sleutels, F., van der Stoep, N., van Tienhoven, M., Vermaat, M., Vogel, M., Waisfisz, Q., Marjan Weiss, J., van den Wijngaard, A., van Workum, W., Ijntema, H., van der Zwaag, B., van Ijcken, W. F. J., den Dunnen, J., Veltman, J. A., Hennekam, R., Cuppen, E. & Weiss, M. M., 2015, In: European journal of human genetics. 23, 9, p. 1142-1150

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57 Citations (Scopus)

Next-generation sequencing-based genome diagnostics across clinical genetics centers: implementation choices and their effects (vol 23, pg 1142, 2015)

Vrijenhoek, T., Kraaijeveld, K., Elferink, M., de Ligt, J., Kranendonk, E., Santen, G., Nijman, I. J., Butler, D., Claes, G., Costessi, A., Dorlijn, W., van Eyndhoven, W., Halley, D. J. J., van den Hout, M. C. G. N., van Hove, S., Johansson, L. F., Jongbloed, J. D. H., Kamps, R., Kockx, C. E. M., de Koning, B., & 28 othersKriek, M., Deprez, R. L. D., Lunstroo, H., Mannens, M., Mook, O. R., Nelen, M., Ploem, C., Rijnen, M., Saris, J. J., Sinke, R., Sistermans, E., van Slegtenhorst, M., Sleutels, F., van der Stoep, N., van Tienhoven, M., Vermaat, M., Vogel, M., Waisfisz, Q., Weiss, J. M., van den Wijngaard, A., van Workum, W., Ijntema, H., van der Zwaag, B., van IJcken, W. F. J., den Dunnen, J. T., Veltman, J. A., Hennekam, R. & Cuppen, E., Sept 2015, In: European journal of human genetics. 23, 9, p. 1270-1270

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7 Citations (Scopus)

Proper genomic profiling of (BRCA1-mutated) basal-like breast carcinomas requires prior removal of tumor infiltrating lymphocytes

Massink, M. P. G., Kooi, I. E., van Mil, S. E., Jordanova, E. S., Ameziane, N., Dorsman, J. C., van Beek, D. M., van der Voorn, J. P., Sie, D., Ylstra, B., van Deurzen, C. H. M., Martens, J. W., Smid, M., Sieuwerts, A. M., de Weerd, V., Foekens, J. A., van den Ouweland, A. M. W., van Dyk, E., Nederlof, P. M., Waisfisz, Q., & 2 othersMeijers-Heijboer, H. & Kooi, E. I., 2015, In: Molecular Oncology. 9, 4, p. 877-888

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15 Citations (Scopus)

Recessive ITPA Mutations Cause an Early Infantile Encephalopathy

Kevelam, S. H., Bierau, J., Salvarinova, R., Agrawal, S., Honzik, T., Visser, D., Weiss, M. M., Salomons, G., Abbink, T. E. M., Waisfisz, Q. & van der Knaap, M. S., 2015, In: Annals of neurology. 78, 4, p. 649-658

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40 Citations (Scopus)

2014

A genome-wide association study of early-onset breast cancer identifies PFKM as a novel breast cancer gene and supports a common genetic spectrum for breast cancer at any age

Ahsan, H., Halpern, J., Kibriya, M. G., Pierce, B. L., Tong, L., Gamazon, E., McGuire, V., Felberg, A., Shi, J., Jasmine, F., Roy, S., Brutus, R., Argos, M., Melkonian, S., Chang-Claude, J., Andrulis, I., Hopper, J. L., John, E. M., Malone, K., Ursin, G., & 57 othersGammon, M. D., Thomas, D. C., Seminara, D., Casey, G., Knight, J. A., Southey, M. C., Giles, G. G., Santella, R. M., Lee, E., Conti, D., Duggan, D., Gallinger, S., Haile, R., Jenkins, M., Lindor, N. M., Newcomb, P., Michailidou, K., Apicella, C., Park, D. J., Peto, J., Fletcher, O., dos Santos Silva, I., Lathrop, M., Hunter, D. J., Chanock, S. J., Meindl, A., Schmutzler, R. K., Müller-Myhsok, B., Lochmann, M., Beckmann, L., Hein, R., Makalic, E., Schmidt, D. F., Bui, Q. M., Stone, J., Flesch-Janys, D., Dahmen, N., Nevanlinna, H., Aittomäki, K., Blomqvist, C., Hall, P., Czene, K., Irwanto, A., Liu, J., Rahman, N., Turnbull, C., Dunning, A. M., Pharoah, P., Waisfisz, Q., Meijers-Heijboer, H., Uitterlinden, A. G., Rivadeneira, F., Nicolae, D., Easton, D. F., Cox, N. J., Whittemore, A. S. & Aittomaki, K., 2014, In: Cancer epidemiology, biomarkers & prevention. 23, 4, p. 658-669

Research output: Contribution to journal › Article › Academic › peer-review

77 Citations (Scopus)

A Novel Splice Site Mutation in the Noncoding Region of BRCA2: Implications for Fanconi Anemia and Familial Breast Cancer Diagnostics

Bakker, J. L., Thirthagiri, E., van Mil, S. E., Adank, M. A., Ikeda, H., Verheul, H. M. W., Meijers-Heijboer, H., de Winter, J. P., Sharan, S. K. & Waisfisz, Q., 2014, In: Human mutation. 35, 4, p. 442-446

Research output: Contribution to journal › Article › Academic › peer-review

9 Citations (Scopus)

First steps in exploring prospective exome sequencing of consanguineous couples

Teeuw, M. E., Waisfisz, Q., Zwijnenburg, P. J. G., Sistermans, E. A., Weiss, M. M., Henneman, L., ten Kate, L. P., Cornel, M. C. & Meijers-Heijboer, H., 2014, In: European journal of medical genetics. 57, 11-12, p. 613-616

Research output: Contribution to journal › Article › Academic › peer-review

11 Citations (Scopus)

Hypomyelination with atrophy of the basal ganglia and cerebellum: further delineation of the phenotype and genotype-phenotype correlation

AUTHOR GROUP, Raguz, A. B. & Abbink, G. E. M., 2014, In: Brain. 137, 7, p. 1921-1930

Research output: Contribution to journal › Article › Academic › peer-review

87 Citations (Scopus)

Informed consent for exome sequencing in diagnostics: exploring first experiences and views of professionals and patients

Rigter, T., van Aart, C. J. A., Elting, M. W., Waisfisz, Q., Cornel, M. C. & Henneman, L., 2014, In: Clinical genetics. 85, 5, p. 417-422

Research output: Contribution to journal › Article › Academic › peer-review

34 Citations (Scopus)

MicroRNA related polymorphisms and breast cancer risk

Khan, S. M., Greco, D., Michailidou, K., Milne, R. L., Muranen, T. A., Heikkinen, T., Aaltonen, K., Dennis, J., Bolla, M. K., Liu, J., Hall, P., Irwanto, A., Humphreys, K., Li, J., Czene, K., Chang-Claude, J., Hein, R., Rudolph, A., Seibold, P., Flesch-Janys, D., & 81 othersFletcher, O., Peto, J., dos, S. S. . I., Johnson, N., Gibson, L., Aitken, Z., Hopper, J. L., Tsimiklis, H., Bui, M., Makalic, E., Schmidt, D. F., Southey, M. C., Apicella, C., Stone, J., Waisfisz, Q., Meijers-Heijboer, H. E., Adank, M. A., van der Luijt, R. B., Meindl, A., Schmutzler, R. K., Muller-Myhsok, B., Lichtner, P., Turnbull, C., Rahman, N., Chanock, S. J., Hunter, D. J., Cox, A., Cross, S. S., Reed, M. W., Schmidt, M. K., Broeks, A., van 't Veer, L. J., Hogervorst, FB., Fasching, P. A., Schrauder, M. G., Ekici, A. B., Beckmann, M. W., Bojesen, S. E., Nordestgaard, B. G., Nielsen, S. F., Flyger, H., Benitez, J., Zamora, P. M., Perez, J. I., Haiman, C. A., Henderson, B. E., Schumacher, F., Le, M. L., Pharoah, P. D., Dunning, A. M., Shah, M., Luben, R., Brown, J., Couch, F. J., Wang, X., Vachon, C., Olson, J. E., Lambrechts, D., Moisse, M., Paridaens, R., Christiaens, M. R., Guenel, P., Truong, T., Laurent-Puig, P., Mulot, C., Marme, F., Burwinkel, B., Schneeweiss, A., Sohn, C., Sawyer, E. J., Tomlinson, I., Kerin, M. J., Miller, N., Andrulis, I. L., Knight, J. A., Tchatchou, S., Mulligan, A. M., Dork, T., Bogdanova, N. V., Easton, D. F. & Nevanlinna, H., 2014, In: PLOS ONE. 9, 11, e109973.

Research output: Contribution to journal › Article › Academic › peer-review

38 Citations (Scopus)

Mutations in RARS cause hypomyelination

Wolf, N. I., Salomons, G. S., Rodenburg, R. J., Pouwels, P. J. W., Schieving, J. H., Derks, T. G. J., Fock, J. M., Rump, P., van Beek, D. M., van der Knaap, M. S. & Waisfisz, Q., 2014, In: Annals of neurology. 76, 1, p. 134-139

Research output: Contribution to journal › Article › Academic › peer-review

81 Citations (Scopus)

2013

A de novo FLCN mutation in a patient with spontaneous pneumothorax and renal cancer; a clinical and molecular evaluation

Menko, F. H., Johannesma, P. C., van Moorselaar, R. J. A., Reinhard, R., van Waesberghe, J. H. T. M., Thunnissen, E., Houweling, A. C., Leter, E. M., Waisfisz, Q., van Doorn, M. B. A., Starink, T. M., Postmus, P. E., Coull, B. J., van Steensel, M. A. M. & Gille, J. J. P., 2013, In: Familial Cancer. 12, 3, p. 373-379

Research output: Contribution to journal › Article › Academic › peer-review

17 Citations (Scopus)

Analysis of the Novel Fanconi Anemia Gene SLX4/FANCP in Familial Breast Cancer Cases

Bakker, J. L., van Mil, S. E., Crossan, G., Sabbaghian, N., de Leeneer, K., Poppe, B., Adank, M., Gille, H., Verheul, H., Meijers-Heijboer, H., de Winter, J. P., Claes, K., Tischkowitz, M., Waisfisz, Q. & Gille, J. J. P., 2013, In: Human mutation. 34, 1, p. 70-73

Research output: Contribution to journal › Article › Academic › peer-review

19 Citations (Scopus)

Best practice guidelines for the use of next-generation sequencing applications in genome diagnostics: a national collaborative study of dutch genome diagnostic laboratories

Weiss, M. M., van der Zwaag, B., Jongbloed, J. D. H., Vogel, M. J., Brüggenwirth, H. T., Lekanne Deprez, R. H., Mook, O., Ruivenkamp, C. A. L., van Slegtenhorst, M. A., van den Wijngaard, A., Waisfisz, Q., Nelen, M. R. & van der Stoep, N., 2013, In: Human mutation. 34, 10, p. 1313-1321

Research output: Contribution to journal › Article › Academic › peer-review

102 Citations (Scopus)

Excess breast cancer risk in first degree relatives of CHEK2*1100delC positive familial breast cancer cases

Adank, M. A., Verhoef, S., Oldenburg, R. A., Schmidt, M. K., Hooning, M. J., Martens, J. W. M., Broeks, A., Rookus, M., Waisfisz, Q., Witte, B. I., Jonker, M. A. & Meijers-Heijboer, H., 2013, In: European Journal of Cancer. 49, 8, p. 1993-1999

Research output: Contribution to journal › Article › Academic › peer-review

20 Citations (Scopus)

Exome sequencing reveals mutated SLC19A3 in patients with an early-infantile, lethal encephalopathy

Kevelam, S. H. G., Bugiani, M., Salomons, G. S., Feigenbaum, A., Blaser, S., Prasad, C., Haberle, J., Baric, I., Bakker, I. M. C., Postma, N. L., Kanhai, W. A., Wolf, N. I., Abbink, G. E. M., Waisfisz, Q., Heutink, P., van der Knaap, M. S., Häberle, J. & Abbink, T. E. M., 2013, In: Brain. 136, 5, p. 1534-1543

Research output: Contribution to journal › Article › Academic › peer-review

72 Citations (Scopus)

Genome-wide association studies identify four ER negative-specific breast cancer risk loci

Garcia-Closas, M., Couch, F. J., Lindstrom, S., Michailidou, K., Schmidt, M. K., Brook, M. N., Orr, N., Rhie, S. K., Riboli, E., Feigelson, H. S., Le Marchand, L., Buring, J. E., Eccles, D., Miron, P., Fasching, P. A., Brauch, H., Chang-Claude, J., Carpenter, J., Godwin, A. K., Nevanlinna, H., & 252 othersGiles, G. G., Cox, A., Hopper, J. L., Bolla, M. K., Wang, Q., Dennis, J., Dicks, E., Howat, W. J., Schoof, N., Bojesen, S. E., Lambrechts, D., Broeks, A., Andrulis, I. L., Guénel, P., Burwinkel, B., Sawyer, E. J., Hollestelle, A., Fletcher, O., Winqvist, R., Brenner, H., Mannermaa, A., Hamann, U., Meindl, A., Lindblom, A., Zheng, W., Devillee, P., Goldberg, M. S., Lubinski, J., Kristensen, V., Swerdlow, A., Anton-Culver, H., Dörk, T., Muir, K., Matsuo, K., Wu, A. H., Radice, P., teo, S. H., Shu, X-O., Blot, W., Kang, D., Hartman, M., Sangrajrang, S., Shen, C-Y., Southey, M. C., Park, D. J., Hammet, F., Stone, J., Veer, L. J. V., Rutgers, E. J., Lophatananon, A., Stewart-Brown, S., Siriwanarangsan, P., Peto, J., Schrauder, M. G., Ekici, A. B., Beckmann, M. W., dos Santos Silva, I., Johnson, N., Warren, H., Tomlinson, I., Kerin, M. J., Miller, N., Marme, F., Schneeweiss, A., Sohn, C., Truong, T., Laurent-Puig, P., Kerbrat, P., Nordestgaard, B. G., Nielsen, S. F., Flyger, H., Milne, R. L., Perez, J. I. A., Menéndez, P., Müller, H., Arndt, V., Stegmaier, C., Lichtner, P., Lochmann, M., Justenhoven, C., Ko, Y-D., Muranen, T. A., Aittomäki, K., Blomqvist, C., Greco, D., Heikkinen, T., Ito, H., Iwata, H., Yatabe, Y., Antonenkova, N. N., Margolin, S., Kataja, V., Kosma, V-M., Hartikainen, J. M., Balleine, R., Tseng, C-C., Berg, D. V. D., Stram, D. O., Neven, P., Dieudonné, A-S., Leunen, K., Rudolph, A., Nickels, S., Flesch-Janys, D., Peterlongo, P., Peissel, B., Bernard, L., Olson, J. E., Wang, X., Stevens, K., Severi, G., Baglietto, L., McLean, C., Coetzee, G. A., Feng, Y., Henderson, B. E., Schumacher, F., Bogdanova, N. V., Labrèche, F., Dumont, M., Yip, C. H., Taib, N. A. M., Cheng, C-Y., Shrubsole, M., Long, J., Pylkäs, K., Jukkola-Vuorinen, A., Kauppila, S., Knight, J. A., Glendon, G., Mulligan, A. M., Tollenaar, R. A. E. M., Seynaeve, C. M., Kriege, M., Hooning, M. J., van den Ouweland, A. M. W., van Deurzen, C. H. M., Lu, W., Gao, Y-T., Cai, H., Balasubramanian, S. P., Cross, S. S., Reed, M. W. R., Signorello, L., Cai, Q., Shah, M., Miao, H., Chan, C. W., Chia, K. S., Jakubowska, A., Jaworska, K., Durda, K., Hsiung, C-N., Wu, P-E., Yu, J-C., Ashworth, A., Jones, M., Tessier, D. C., González-Neira, A., Pita, G., Alonso, M. R., Vincent, D., Bacot, F., Ambrosone, C. B., Bandera, E. V., John, E. M., Chen, G. K., Hu, J. J., Rodriguez-Gil, J. L., Bernstein, L., Press, M. F., Ziegler, R. G., Millikan, R. M., Deming-Halverson, S. L., Nyante, S., Ingles, S. A., Waisfisz, Q., Tsimiklis, H., Makalic, E., Schmidt, D., Bui, M., Gibson, L., Müller-Myhsok, B., Schmutzler, R. K., Hein, R., Dahmen, N., Beckmann, L., Aaltonen, K., Czene, K., Irwanto, A., Liu, J., Turnbull, C., Rahman, N., Meijers-Heijboer, H., Uitterlinden, A. G., Rivadeneira, F., Olswold, C., Slager, S., Pilarski, R., Ademuyiwa, F., Konstantopoulou, I., Martin, N. G., Montgomery, G. W., Slamon, D. J., Rauh, C., Lux, M. P., Jud, S. M., Bruning, T., Weaver, J., Sharma, P., Pathak, H., Tapper, W., Gerty, S., Durcan, L., Trichopoulos, D., Tumino, R., Peeters, P. H., Kaaks, R., Campa, D., Canzian, F., Weiderpass, E., Johansson, M., Khaw, K-T., Travis, R., Clavel-Chapelon, F., Kolonel, L. N., Chen, C., Beck, A., Hankinson, S. E., Berg, C. D., Hoover, R. N., Lissowska, J., Figueroa, J. D., Chasman, D. I., Gaudet, M. M., Diver, W. R., Willett, W. C., Hunter, D. J., Simard, J., Benitez, J., Dunning, A. M., Sherman, M. E., Chenevix-Trench, G., Chanock, S. J., Hall, P., Pharoah, P. D. P., Vachon, C., Easton, D. F., Haiman, C. A., Kraft, P., Michailidouo, K. & Tomlins, I., 2013, In: Nature Genetics. 45, 4, p. 392-8, 398e1-2

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330 Citations (Scopus)

Identification of a BRCA2-Specific Modifier Locus at 6p24 Related to Breast Cancer Risk

EMBRACE, HEBON, GENICA Network, GEMO Study, KConFab Investigators, Ontario Cancer Genetics Network, D'Andrea, E., Caldes, T., Nevanlinna, H., Osorio, A., van Rensburg, E. J., Arason, A., Rennert, G., van den Ouweland, A. M. W., van der Hout, A. H., Kets, C. M., Wijnen, J. T., Ausems, M. G. E. M., Frost, D., Ellis, S., & 74 othersFineberg, E., Platte, R., Evans, D. G., Jacobs, C., Adlard, J., Tischkowitz, M., Porteous, M. E., Damiola, F., Golmard, L., Barjhoux, L., Longy, M., Belotti, M., Ferrer, S. F., Mazoyer, S., Spurdle, A. B., Manoukian, S., Barile, M., Genuardi, M., Arnold, N., Meindl, A., Sutter, C., Wappenschmidt, B., Domchek, S. M., Pfeiler, G., Friedman, E., Jensen, U. B., Robson, M., Shah, S., Lazaro, C., Mai, P. L., Benitez, J., Southey, M. C., Schmidt, M. K., Fasching, P. A., Peto, J., Humphreys, M. K., Wang, Q., Michailidou, K., Sawyer, E. J., Burwinkel, B., Guénel, P., Bojesen, S. E., Milne, R. L., Brenner, H., Lochmann, M., Aittomäki, K., Dörk, T., Margolin, S., Mannermaa, A., Lambrechts, D., Chang-Claude, J., Radice, P., Giles, G. G., Haiman, C. A., Winqvist, R., Devillee, P., García-Closas, M., Schoof, N., Hooning, M. J., Cox, A., Pharoah, P. D. P., Jakubowska, A., Orr, N., González-Neira, A., Pita, G., Alonso, M. R., Hall, P., Couch, F. J., Simard, J., Altshuler, D., Easton, D. F., Chenevix-Trench, G., Antoniou, A. C. & Offit, K., 2013, In: PLoS genetics. 9, 3, p. e1003173 e1003173.

Research output: Contribution to journal › Article › Academic › peer-review

Open Access

95 Citations (Scopus)

Inactivating Mutations in GT198 in Familial and Early-Onset Breast and Ovarian Cancers

Peng, M., Bakker, J. L., Dicioccio, R. A., Gille, J. J., Zhao, H., Odunsi, K., Sucheston, L., Jaafar, L., Mivechi, N. F., Waisfisz, Q. & Ko, L., 2013, In: Genes & Cancer. 4, 1-2, p. 15-25

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19 Citations (Scopus)

Large-scale genotyping identifies 41 new loci associated with breast cancer risk

Michailidou, K., Hall, P., Gonzalez-Neira, A., Ghoussaini, M., Dennis, J., Milne, R. L., Schmidt, M. K., Chang-Claude, J., Bojesen, S. E., Bolla, M. K., Wang, Q., Dicks, E., Lee, A., Turnbull, C., Rahman, N., Fletcher, O., Peto, J., Gibson, L., dos Santos Silva, I., Nevanlinna, H., & 201 othersMuranen, T. A., Aittomäki, K., Blomqvist, C., Czene, K., Irwanto, A., Liu, J., Waisfisz, Q., Meijers-Heijboer, H., Adank, M., van der Luijt, R. B., Hein, R., Dahmen, N., Beckman, L., Meindl, A., Schmutzler, R. K., Müller-Myhsok, B., Lichtner, P., Hopper, J. L., Southey, M. C., Makalic, E., Schmidt, D. F., Uitterlinden, A. G., Hofman, A., Hunter, D. J., Chanock, S. J., Vincent, D., Bacot, F., Tessier, D. C., Canisius, S., Wessels, L. F. A., Haiman, C. A., Shah, M., Luben, R., Brown, J., Luccarini, C., Schoof, N., Humphreys, K., Li, J., Nordestgaard, B. G., Nielsen, S. F., Flyger, H., Couch, F. J., Wang, X., Vachon, C., Stevens, K. N., Lambrechts, D., Moisse, M., Paridaens, R., Christiaens, M-R., Rudolph, A., Nickels, S., Flesch-Janys, D., Johnson, N., Aitken, Z., Aaltonen, K., Heikkinen, T., Broeks, A., van 't Veer, L. J., van der Schoot, C. E., Guénel, P., Truong, T., Laurent-Puig, P., Menegaux, F., Marme, F., Schneeweiss, A., Sohn, C., Burwinkel, B., Zamora, M. P., Perez, J. I. A., Pita, G., Alonso, M. R., Cox, A., Brock, I. W., Cross, S. S., Reed, M. W. R., Sawyer, E. J., Tomlinson, I., Kerin, M. J., Miller, N., Henderson, B. E., Schumacher, F., Le Marchand, L., Andrulis, I. L., Knight, J. A., Glendon, G., Mulligan, A. M., Lindblom, A., Margolin, S., Hooning, M. J., Hollestelle, A., van den Ouweland, A. M. W., Jager, A., Bui, Q. M., Stone, J., Dite, G. S., Apicella, C., Tsimiklis, H., Giles, G. G., Severi, G., Baglietto, L., Fasching, P. A., Haeberle, L., Ekici, A. B., Beckmann, M. W., Brenner, H., Müller, H., Arndt, V., Stegmaier, C., Swerdlow, A., Ashworth, A., Orr, N., Jones, M., Figueroa, J., Lissowska, J., Brinton, L., Goldberg, M. S., Labrèche, F., Dumont, M., Winqvist, R., Pylkäs, K., Jukkola-Vuorinen, A., Grip, M., Brauch, H., Hamann, U., Brüning, T., Radice, P., Peterlongo, P., Manoukian, S., Bonanni, B., Devilee, P., Tollenaar, R. A. E. M., Seynaeve, C., van Asperen, C. J., Jakubowska, A., Lubinski, J., Jaworska, K., Durda, K., Mannermaa, A., Kataja, V., Kosma, V-M., Hartikainen, J. M., Bogdanova, N. V., Antonenkova, N. N., Dörk, T., Kristensen, V. N., Anton-Culver, H., Slager, S., Toland, A. E., Edge, S., Fostira, F., Kang, D., Yoo, K-Y., Noh, D-Y., Matsuo, K., Ito, H., Iwata, H., Sueta, A., Wu, A. H., Tseng, C-C., van den Berg, D., Stram, D. O., Shu, X-O., Lu, W., Gao, Y-T., Cai, H., teo, S. H., Yip, C. H., Phuah, S. Y., Cornes, B. K., Hartman, M., Miao, H., Lim, W. Y., Sng, J-H., Muir, K., Lophatananon, A., Stewart-Brown, S., Siriwanarangsan, P., Shen, C-Y., Hsiung, C-N., Wu, P-E., Ding, S-L., Sangrajrang, S., Gaborieau, V., Brennan, P., McKay, J., Blot, W. J., Signorello, L. B., Cai, Q., Zheng, W., Deming-Halverson, S., Shrubsole, M., Long, J., Simard, J., Garcia-Closas, M., Pharoah, P. D. P., Chenevix-Trench, G., Dunning, A. M., Benitez, J., Easton, D. F., Aittomaki, K. & Burwinke, B., 2013, In: Nature Genetics. 45, 4, p. 353-61, 361e1-2

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873 Citations (Scopus)

PLS3 mutations in X-linked osteoporosis with fractures

van Dijk, F. S., Zillikens, M. C., Micha, D., Riessland, M., Marcelis, C. L. M., de Die-Smulders, C. E., Milbradt, J., Franken, A. A., Harsevoort, A. J., Lichtenbelt, K. D., Pruijs, H. E., Rubio-Gozalbo, M. E., Zwertbroek, R., Moutaouakil, Y., Egthuijsen, J., Hammerschmidt, M., Bijman, R., Semeins, C. M., Bakker, A. D., Everts, V., & 13 othersKlein-Nulend, J., Campos-Obando, N., Hofman, A., te Meerman, G. J., Verkerk, A. J. M. H., Uitterlinden, A. G., Maugeri, A., Sistermans, E. A., Waisfisz, Q., Meijers-Heijboer, H., Wirth, B., Simon, M. E. H. & Pals, G., 2013, In: The New England journal of medicine. 369, 16, p. 1529-1536

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161 Citations (Scopus)

Reflecting on Earlier Experiences with Unsolicited Findings: Points to Consider for Next-Generation Sequencing and Informed Consent in Diagnostics

Rigter, T., Henneman, L., Kristoffersson, U., Hall, A., Yntema, H. G., Borry, P., Tonnies, H., Waisfisz, Q., Elting, M. W., Dondorp, W. J. & Cornel, M. C., 2013, In: Human mutation. 34, 10, p. 1322-1328

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43 Citations (Scopus)

2012

Familial multiple discoid fibromas: A look-alike of Birt-Hogg-Dube syndrome not linked to the FLCN locus

Starink, T. M., Houweling, A. C., van Doorn, M. B. A., Leter, E. M., Jaspars, E. H., van Moorselaar, R. J. A., Postmus, P. E., Johannesma, P. C., van Waesberghe, J. H. T. M., Ploeger, M. H., Kramer, M. T., Gille, J. J. P., Waisfisz, Q. & Menko, F. H., 2012, In: Journal of the American Academy of Dermatology. 66, 2, p. 259-263

Research output: Contribution to journal › Article › Academic › peer-review

23 Citations (Scopus)

Genome-wide association analysis identifies three new breast cancer susceptibility loci

Ghoussaini, M., Fletcher, O., Michailidou, K., Turnbull, C., Schmidt, M. K., Dicks, E., Dennis, J., Wang, Q., Humphreys, M. K., Luccarini, C., Baynes, C., Conroy, D., Maranian, M., Ahmed, S., Driver, K., Johnson, N., Orr, N., dos Santos Silva, I., Waisfisz, Q., Meijers-Heijboer, H., & 165 othersUitterlinden, A. G., Rivadeneira, F., Hall, P., Czene, K., Irwanto, A., Liu, J., Nevanlinna, H., Aittomäki, K., Blomqvist, C., Meindl, A., Schmutzler, R. K., Müller-Myhsok, B., Lichtner, P., Chang-Claude, J., Hein, R., Nickels, S., Flesch-Janys, D., Tsimiklis, H., Makalic, E., Schmidt, D., Bui, M., Hopper, J. L., Apicella, C., Park, D. J., Southey, M., Hunter, D. J., Chanock, S. J., Broeks, A., Verhoef, S., Hogervorst, F. B. L., Fasching, P. A., Lux, M. P., Beckmann, M. W., Ekici, A. B., Sawyer, E., Tomlinson, I., Kerin, M., Marme, F., Schneeweiss, A., Sohn, C., Burwinkel, B., Guénel, P., Truong, T., Cordina-Duverger, E., Menegaux, F., Bojesen, S. E., Nordestgaard, B. G., Nielsen, S. F., Flyger, H., Milne, R. L., Alonso, M. R., González-Neira, A., Benítez, J., Anton-Culver, H., Ziogas, A., Bernstein, L., Dur, C. C., Brenner, H., Müller, H., Arndt, V., Stegmaier, C., Justenhoven, C., Brauch, H., Brüning, T., Wang-Gohrke, S., Eilber, U., Dörk, T., Schürmann, P., Bremer, M., Hillemanns, P., Bogdanova, N. V., Antonenkova, N. N., Rogov, Y. I., Karstens, J. H., Bermisheva, M., Prokofieva, D., Khusnutdinova, E., Lindblom, A., Margolin, S., Mannermaa, A., Kataja, V., Kosma, V-M., Hartikainen, J. M., Lambrechts, D., Yesilyurt, B. T., Floris, G., Leunen, K., Manoukian, S., Bonanni, B., Fortuzzi, S., Peterlongo, P., Couch, F. J., Wang, X., Stevens, K., Lee, A., Giles, G. G., Baglietto, L., Severi, G., McLean, C., Alnaes, G. G., Kristensen, V., Børrensen-Dale, A-L., John, E. M., Miron, A., Winqvist, R., Pylkäs, K., Jukkola-Vuorinen, A., Kauppila, S., Andrulis, I. L., Glendon, G., Mulligan, A. M., Devilee, P., van Asperen, C. J., Tollenaar, R. A. E. M., Seynaeve, C., Figueroa, J. D., Garcia-Closas, M., Brinton, L., Lissowska, J., Hooning, M. J., Hollestelle, A., Oldenburg, R. A., van den Ouweland, A. M. W., Cox, A., Reed, M. W. R., Shah, M., Jakubowska, A., Lubinski, J., Jaworska, K., Durda, K., Jones, M., Schoemaker, M., Ashworth, A., Swerdlow, A., Beesley, J., Chen, X., Muir, K. R., Lophatananon, A., Rattanamongkongul, S., Chaiwerawattana, A., Kang, D., Yoo, K-Y., Noh, D-Y., Shen, C-Y., Yu, J-C., Wu, P-E., Hsiung, C-N., Perkins, A., Swann, R., Velentzis, L., Eccles, D. M., Tapper, W. J., Gerty, S. M., Graham, N. J., Ponder, B. A. J., Chenevix-Trench, G., Pharoah, P. D. P., Lathrop, M., Dunning, A. M., Rahman, N., Peto, J., Easton, D. F., Aittomaki, K., Guenal, P. & Dork, T., 2012, In: Nature Genetics. 44, 3, p. 312-U120

Research output: Contribution to journal › Article › Academic › peer-review

233 Citations (Scopus)

Proteomics of Mouse BRCA1-deficient Mammary Tumors Identifies DNA Repair Proteins with Potential Diagnostic and Prognostic Value in Human Breast Cancer

Warmoes, M. O., Jaspers, J. E., Pham, T. V., Piersma, S. R., Oudgenoeg, G., Massink, M. P. G., Waisfisz, Q., Rottenberg, S., Boven, E., Jonkers, J. & Jimenez, C. R., 2012, In: Molecular and Cellular Proteomics. 11, 7, M111.013334.

Research output: Contribution to journal › Article › Academic › peer-review

24 Citations (Scopus)

Routine testing for PALB2 mutations in familial pancreatic cancer families and breast cancer families with pancreatic cancer is not indicated

Harinck, F., Kluijt, I., van Mil, S. E., Waisfisz, Q., van Os, T. A. M., Aalfs, C. M., Wagner, A., Olderode-Berends, M., Sijmons, R. H., Kuipers, E. J., Poley, J-W., Fockens, P. & Bruno, M. J., 2012, In: European journal of human genetics. 20, 5, p. 577-579

Research output: Contribution to journal › Article › Academic › peer-review

40 Citations (Scopus)

2011

CHEK2*1100delC homozygosity is associated with a high breast cancer risk in women

Adank, M. A., Jonker, M. A., Kluijt, I., van Mil, S. E., Oldenburg, R. A., Mooi, W. J., Hogervorst, F. B. L., van den Ouweland, A. M. W., Gille, J. J. P., Schmidt, M. K., van der Vaart, A. W., Meijers-Heijboer, E. J. & Waisfisz, Q., 2011, In: Journal of medical genetics. 48, 12, p. 860-863

Research output: Contribution to journal › Article › Academic › peer-review

65 Citations (Scopus)

Evaluation of the XRCC1 gene as a phenotypic modifier in BRCA1/2 mutation carriers. Results from the consortium of investigators of modifiers of BRCA1/BRCA2

AUTHOR GROUP, Aittomaki, K., Loman, N., Jernstrom, H., Barbany-Bustinza, G., Liljegren, A., Ehrencrona, H., Stenmark-Askmalm, M., Feliubadalo, L., Manoukian, S., Peissel, B., Zaffaroni, D., Bonanni, B., Fortuzzi, S., Johannsson, O. T., Chenevix-Trench, G., Chen, X. C., Beesley, J., Spurdle, A. B., Sinilnikova, O. M., & 6 othersHealey, S., McGuffog, L., Antoniou, A. C., Brunet, J., Radice, P. & Benitez, J., 2011, In: British journal of cancer. 104, 8, p. 1356-1361

Research output: Contribution to journal › Article › Academic › peer-review

Open Access

5 Citations (Scopus)

Interplay between BRCA1 and RHAMM regulates epithelial apicobasal polarization and may influence risk of breast cancer

Maxwell, C. A., Benítez, J., Gómez-Baldó, L., Osorio, A., Bonifaci, N., Fernández-Ramires, R., Costes, S. V., Guinó, E., Chen, H., Evans, G. J. R., Mohan, P., Català, I., Petit, A., Aguilar, H., Villanueva, A., Aytes, A., Serra-Musach, J., Rennert, G., Lejbkowicz, F., Peterlongo, P., & 125 othersManoukian, S., Peissel, B., Ripamonti, C. B., Bonanni, B., Viel, A., Allavena, A., Bernard, L., Radice, P., Friedman, E., Kaufman, B., Laitman, Y., Dubrovsky, M., Milgrom, R., Jakubowska, A., Cybulski, C., Gorski, B., Jaworska, K., Durda, K., Sukiennicki, G., Lubiński, J., Shugart, Y. Y., Domchek, S. M., Letrero, R., Weber, B. L., Hogervorst, F. B. L., Rookus, M. A., Collee, J. M., Devilee, P., Ligtenberg, M. J., van der Luijt, R. B., Aalfs, C. M., Waisfisz, Q., Wijnen, J., van Roozendaal, C. E. P., Easton, D. F., Peock, S., Cook, M., Oliver, C., Frost, D., Harrington, P., Evans, D. G., Lalloo, F., Eeles, R., Izatt, L., Chu, C., Eccles, D., Douglas, F., Brewer, C., Nevanlinna, H., Heikkinen, T., Couch, F. J., Lindor, N. M., Wang, X., Godwin, A. K., Caligo, M. A., Lombardi, G., Loman, N., Karlsson, P., Ehrencrona, H., von Wachenfeldt, A., Barkardottir, R. B., Hamann, U., Rashid, M. U., Lasa, A., Caldés, T., Andrés, R., Schmitt, M., Assmann, V., Stevens, K., Offit, K., Curado, J., Tilgner, H., Guigó, R., Aiza, G., Brunet, J., Castellsagué, J., Martrat, G., Urruticoechea, A., Blanco, I., Tihomirova, L., Goldgar, D. E., Buys, S., John, E. M., Miron, A., Southey, M., Daly, M. B., Schmutzler, R. K., Wappenschmidt, B., Meindl, A., Arnold, N., Deissler, H., Varon-Mateeva, R., Sutter, C., Niederacher, D., Imyamitov, E., Sinilnikova, O. M., Stoppa-Lyonne, D., Mazoyer, S., Verny-Pierre, C., Castera, L., de Pauw, A., Bignon, Y. J., Uhrhammer, N., Peyrat, J. P., Vennin, P., Fert-Ferrer, S., Collonge-Rame, M. A., Mortemousque, I., Spurdle, A. B., Beesley, J., Chen, X., Healey, S., Barcellos-Hoff, M. H., Vidal, M., Gruber, S. B., Lázaro, C., Capellá, G., McGuffog, L., Nathanson, K. L., Antoniou, A. C., Chenevix-Trench, G., Fleisch, M. C., Moreno, V., Pujana, M. A. & Lubinski, J., 2011, In: PLoS Biology. 9, 11, p. e1001199 19 p., e1001199.

Research output: Contribution to journal › Article › Academic › peer-review

Open Access

80 Citations (Scopus)

PALB2 analysis in BRCA2-like families

Adank, M. A., van Mil, S. E., Gille, J. J. P., Waisfisz, Q. & Meijers-Heijboer, H., 2011, In: Breast cancer research and treatment. 127, 2, p. 357-362

Research output: Contribution to journal › Article › Academic › peer-review

Open Access

45 Citations (Scopus)

Spontaneous abrogation of the G(2) DNA damage checkpoint has clinical benefits but promotes leukemogenesis in Fanconi anemia patients

Ceccaldi, R., Briot, D., Larghero, J., Vasquez, N., d'Enghien, C. D., Chamousset, D., Noguera, M. E., Waisfisz, Q., Hermine, O., Pondarre, C., Leblanc, T., Gluckman, E., Joenje, H., Stoppa-Lyonnet, D., Socie, G. & Soulier, J., 2011, In: Journal of clinical investigation. 121, 1, p. 184-194

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Open Access

52 Citations (Scopus)

2010

Familiaire multipele discoïde fibromen: Een dubbelganger van het Birt-Hogg-Dubé syndroom, niet gekoppeld aan het FLCN-locus

Translated title of the contribution: Familial multiple discoid fibroma: A lookalike of Birt-Hogg-Dube syndrome not linked to the FLCN locusStarink, T. M., Van Doorn, M. B. A., Jaspars, E. H., Houweling, A. C., Waisfisz, Q. & Menko, F. H., Sept 2010, In: Nederlands Tijdschrift voor Dermatologie en Venereologie. 20, 8, p. 499-500 2 p.

Research output: Contribution to journal › Article › Academic › peer-review

Fanconi Anemia Gene Mutations Are Not Involved in Sporadic Wilms Tumor

Adank, M. A., Segers, H., van Mil, S. E., van Helsdingen, Y. M., Ameziane, N., van den Ouweland, A. M. W., Wagner, A., Meijers-Heijboer, H., Kool, M., de Kraker, J., Waisfisz, Q. & van den Heuvel-Eibrink, M. M., 2010, In: Pediatric blood & cancer. 55, 4, p. 742-744

Research output: Contribution to journal › Article › Academic › peer-review

3 Citations (Scopus)

2009

Common variants in LSP1, 2q35 and 8q24 and breast cancer risk for BRCA1 and BRCA2 mutation carriers

AUTHOR GROUP, Karlsson, P. S., Domchek, S. M., Nathanson, K. L., Osorio, A., Blanco, I., Lasa, A., Benitez, J., Hamann, U., Hogervorst, FB., Rookus, M. A., Collee, J. M., Devilee, P., Ligtenberg, M. J. L., van der Luijt, R., Waisfisz, Q., Wijnen, J. G., van Roozendaal, C. E. P., Peock, S., Cook, M., & 29 othersFrost, D., Oliver, C., Platte, R., Evans, D., Lalloo, F., Eeles, R., Izatt, L., Davidson, R., Chu, C., Eccles, D., Cole, T., Hodgson, SV., Godwin, A. K., Stoppa-Lyonnet, D., Buecher, B., Leone, M., Bressac-de Paillerets, B., Remenieras, A., Caron, O., Lenoir, G. M., Sevenet, N., Longy, M., Ferrer, S. F., Prieur, F., Goldgar, D., Miron, A., John, E. M., Buys, S. G. M. & Daly, M., 2009, In: Human Molecular Genetics. 18, 22, p. 4442-4456

Research output: Contribution to journal › Article › Academic › peer-review

95 Citations (Scopus)

Correlation of minimal residual disease cell frequency with molecular genotype in patients with acute myeloid leukemia

Hess, C. J., Feller, N., Denkers, F., Kelder, A., Merle, PA., Heinrich, M. C., Harlow, A., Berkhof, J., Ossenkoppele, G. J., Waisfisz, Q. & Schuurhuis, G. J., 2009, In: Haematologica. 94, 1, p. 46-53

Research output: Contribution to journal › Article › Academic › peer-review

13 Citations (Scopus)

The Cellular Phenotype of Roberts Syndrome Fibroblasts as Revealed by Ectopic Expression of ESCO2

van der Lelij, P., Godthelp, B. C., van Zon, W., van Gosliga, D., Oostra, A. B., Steltenpool, J., de Groot, J., Scheper, R. J., Wolthuis, R. M., Waisfisz, Q., Darroudi, F., Joenje, H. & de Winter, J. P., 2009, In: PLOS ONE. 4, 9

Research output: Contribution to journal › Article › Academic › peer-review

Open Access

57 Citations (Scopus)

2008