Human Genetics (VUmc)

Search results

  • Article

    Association analysis identifies 65 new breast cancer risk loci

    NBCS Collaborators, ABCTB Investigators, kConFab/AOCS Investigators, Bogdanova, N. V., Bojesen, S. E., Bonanni, B., Børresen-Dale, A-L., Brand, J. S., Brauch, H., Brennan, P., Brenner, H., Brinton, L., Broberg, P., Brock, I. W., Broeks, A., Brooks-Wilson, A., Brucker, S. Y., Brüning, T., Burwinkel, B., Butterbach, K., & 292 othersCai, Q., Cai, H., Caldés, T., Canzian, F., Carracedo, A., Carter, B. D., Castelao, J. E., Chan, T. L., David Cheng, T-Y., Seng Chia, K., Choi, J-Y., Christiansen, H., Clarke, C. L., Collée, M., Conroy, D. M., Cordina-Duverger, E., Cornelissen, S., Cox, D. G., Cox, A., Cross, S. S., Cunningham, J. M., Czene, K., Daly, M. B., Devilee, P., Doheny, K. F., Dörk, T., Dos-Santos-Silva, I., Dumont, M., Durcan, L., Dwek, M., Eccles, D. M., Ekici, A. B., Eliassen, A. H., Ellberg, C., Elvira, M., Engel, C., Eriksson, M., Fasching, P. A., Figueroa, J., Flesch-Janys, D., Fletcher, O., Flyger, H., Fritschi, L., Gaborieau, V., Gabrielson, M., Gago-Dominguez, M., Gao, Y-T., Gapstur, S. M., García-Sáenz, J. A., Gaudet, M. M., Georgoulias, V., Giles, G. G., Glendon, G., Goldberg, M. S., Goldgar, D. E., González-Neira, A., Grenaker Alnæs, G. I., Grip, M., Gronwald, J., Grundy, A., Guénel, P., Haeberle, L., Hahnen, E., Haiman, C. A., Håkansson, N., Hamann, U., Hamel, N., Hankinson, S., Harrington, P., Hart, S. N., Hartikainen, J. M., Hartman, M., Hein, A., Heyworth, J., Hicks, B., Hillemanns, P., Ho, D. N., Hollestelle, A., Hoover, R. N., Hopper, J. L., Hou, M-F., Hsiung, C-N., Huang, G., Humphreys, K., Ishiguro, J., Ito, H., Iwasaki, M., Iwata, H., Jakubowska, A., Janni, W., John, E. M., Johnson, N., Jones, K., Jones, M., Jukkola-Vuorinen, A., Kaaks, R., Kabisch, M., Kaczmarek, K., Kang, D., Kasuga, Y., Kerin, M. J., Khan, S., Khusnutdinova, E., Kiiski, J. I., Kim, S-W., Knight, J. A., Kosma, V-M., Kristensen, V. N., Krüger, U., Kwong, A., Lambrechts, D., Le Marchand, L., Lee, E., Lee, M. H., Lee, J. W., Neng Lee, C., Lejbkowicz, F., Li, J., Lilyquist, J., Lindblom, A., Lissowska, J., Lo, W-Y., Loibl, S., Long, J., Lophatananon, A., Lubinski, J., Luccarini, C., Lux, M. P., Ma, E. S. K., MacInnis, R. J., Maishman, T., Makalic, E., Malone, K. E., Kostovska, I. M., Mannermaa, A., Manoukian, S., Manson, J. E., Margolin, S., Mariapun, S., Martinez, M. E., Matsuo, K., Mavroudis, D., McKay, J., McLean, C., Meindl, A., Menéndez, P., Menon, U., Meyer, J., Miao, H., Miller, N., Taib, N. A. M., Muir, K., Mulligan, A. M., Mulot, C., Neuhausen, S. L., Nevanlinna, H., Neven, P., Nielsen, S. F., Noh, D-Y., Nordestgaard, B. G., Norman, A., Olopade, O. I., Olson, J. E., Olsson, H., Olswold, C., Orr, N., Pankratz, V. S., Park, S. K., Park-Simon, T-W., Lloyd, R., Perez, J. I. A., Peterlongo, P., Peto, J., Phillips, K-A., Pinchev, M., Plaseska-Karanfilska, D., Prentice, R., Presneau, N., Prokofyeva, D., Pugh, E., Pylkäs, K., Rack, B., Radice, P., Rahman, N., Rennert, G., Rennert, H. S., Rhenius, V., Romero, A., Romm, J., Ruddy, K. J., Rüdiger, T., Rudolph, A., Ruebner, M., Rutgers, E. J. T., Saloustros, E., Sandler, D. P., Sangrajrang, S., Sawyer, E. J., Schmidt, D. F., Schmutzler, R. K., Schneeweiss, A., Schoemaker, M. J., Schumacher, F., Schürmann, P., Scott, R. J., Scott, C., Seal, S., Seynaeve, C., Shah, M., Sharma, P., Shen, C-Y., Sheng, G., Sherman, M. E., Shrubsole, M. J., Shu, X-O., Smeets, A., Sohn, C., Southey, M. C., Spinelli, J. J., Stegmaier, C., Stewart-Brown, S., Stone, J., Stram, D. O., Surowy, H., Swerdlow, A., Tamimi, R., Taylor, J. A., Tengström, M., teo, S. H., Beth Terry, M., Tessier, D. C., Thanasitthichai, S., Thöne, K., Tollenaar, R. A. E. M., Tomlinson, I., Tong, L., Torres, D., Truong, T., Tseng, C-C., Tsugane, S., Ulmer, H-U., Ursin, G., Untch, M., Vachon, C., van Asperen, C. J., van den Berg, D., van den Ouweland, A. M. W., van der Kolk, L., van der Luijt, R. B., Vincent, D., Vollenweider, J., Wang-Gohrke, S., Weinberg, C. R., Wendt, C., Whittemore, A. S., Wildiers, H., Willett, W., Winqvist, R., Wolk, A., Wu, A. H., Xia, L., Yamaji, T., Yang, X. R., Har Yip, C., Yoo, K-Y., Yu, J-C., Zheng, W., Zheng, Y., Zhu, B., Ziogas, A., Ziv, E., Lakhani, S. R., Antoniou, A. C., Droit, A., Andrulis, I. L., Amos, C. I., Couch, F. J., Pharoah, P. D. P., Chang-Claude, J., Hall, P., Hunter, D. J., Milne, R. L., García-Closas, M., Schmidt, M. K., Chanock, S. J., Dunning, A. M., Edwards, S. L., Bader, G. D., Chenevix-Trench, G., Simard, J., Kraft, P. & Easton, D. F., 2 Nov 2017, In: NATURE. 551, 7678, p. 92-94 3 p.

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

    852 Citations (Scopus)

  • Association between Adult Height and Risk of Colorectal, Lung, and Prostate Cancer: Results from Meta-analyses of Prospective Studies and Mendelian Randomization Analyses

    Khankari, N. K., Shu, X. O., Wen, W., Kraft, P., Lindström, S., Peters, U., Schildkraut, J., Schumacher, F., Bofetta, P., Risch, A., Bickeböller, H., Amos, C. I., Easton, D., Eeles, R. A., Gruber, S. B., Haiman, C. A., Hunter, D. J., Chanock, S. J., Pierce, B. L., Zheng, W., & 94 othersBlalock, K., Campbell, P. T., Casey, G., Conti, D. V., Edlund, C. K., Figueiredo, J., James Gauderman, W., Gong, J., Green, R. C., Harju, J. F., Harrison, T. A., Jacobs, E. J., Jenkins, M. A., Jiao, S., Li, L., Lin, Y., Manion, F. J., Moreno, V., Mukherjee, B., Raskin, L., Schumacher, F. R., Seminara, D., Severi, G., Stenzel, S. L., Thomas, D. C., Hopper, J. L., Southey, M. C., Makalic, E., Schmidt, D. F., Fletcher, O., Peto, J., Gibson, L., dos Santos Silva, I., Ahsan, H., Whittemore, A., Waisfisz, Q., Meijers-Heijboer, H., Adank, M., van der Luijt, R. B., Uitterlinden, A. G., Hofman, A., Meindl, A., Schmutzler, R. K., Müller-Myhsok, B., Lichtner, P., Nevanlinna, H., Muranen, T. A., Aittomäki, K., Blomqvist, C., Chang-Claude, J., Hein, R., Dahmen, N., Beckman, L., Crisponi, L., Hall, P., Czene, K., Irwanto, A., Liu, J., Easton, D. F., Turnbull, C., Rahman, N., Eeles, R., Kote-Jarai, Z., Muir, K., Giles, G., Neal, D., Donovan, J. L., Hamdy, F. C., Wiklund, F., Gronberg, H., Haiman, C., Schumacher, F., Travis, R., Riboli, E., Hunter, D., Gapstur, S., Berndt, S., Chanock, S., Han, Y., Su, L., Wei, Y., Hung, R. J., Brhane, Y., McLaughlin, J., Brennan, P., McKay, J. D., Rosenberger, A., Houlston, R. S., Caporaso, N., Teresa Landi, M., Heinrich, J., Wu, X., Ye, Y. & Christiani, D. C., 1 Sept 2016, In: PLoS medicine. 13, 9, e1002118.

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

    63 Citations (Scopus)

  • Association between C677T polymorphism of methylene tetrahydrofolate reductase and congenital heart disease: Meta-analysis of 7697 cases and 13 125 controls

    Mamasoula, C., Prentice, R. R., Pierscionek, T., Pangilinan, F., Mills, J. L., Druschel, C., Pass, K., Russell, M. W., Hall, D., Töpf, A., Brown, D. L., Zelenika, D., Bentham, J., Cosgrove, C., Bhattacharya, S., Riveron, J. G., Setchfield, K., Brook, J. D., Bu'Lock, F. A., Thornborough, C., & 22 othersRahman, T. J., Doza, J. P., Tan, H. L., O'Sullivan, J., Stuart, A. G., Blue, G., Winlaw, D., Postma, A. V., Mulder, B. J. M., Zwinderman, A. H., Van Engelen, K., Moorman, A. F. M., Rauch, A., Gewillig, M., Breckpot, J., Devriendt, K., Lathrop, G. M., Farrall, M., Goodship, J. A., Cordell, H. J., Brody, L. C. & Keavney, B. D., Aug 2013, In: Circulation: Cardiovascular Genetics. 6, 4, p. 347-353 7 p.

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

    Open Access
    31 Citations (Scopus)

  • 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

    EMBRACE, GEMO Study Collaborators, HEBON, KConFab Investigators, 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., & 102 othersHahnen, 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., 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-R., 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., Sønderstrup, 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., Teulé, 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 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., 1 Jan 2017, In: Breast cancer research and treatment. 161, 1, p. 117-134 18 p.

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

    19 Citations (Scopus)

  • Association of Cognitive Function Trajectories in Centenarians With Postmortem Neuropathology, Physical Health, and Other Risk Factors for Cognitive Decline

    Beker, N., Ganz, A., Hulsman, M., Klausch, T., Schmand, B. A., Scheltens, P., Sikkes, S. A. M. & Holstege, H., 15 Jan 2021, In: JAMA network open. 4, 1, p. e2031654 e2031654.

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

    Open Access
    29 Citations (Scopus)

  • Association of Genetic Risk for Schizophrenia and Bipolar Disorder With Infant Neuromotor Development

    Serdarevic, F., Jansen, P. R., Ghassabian, A., White, T., Jaddoe, V. W. V., Posthuma, D. & Tiemeier, H., 1 Jan 2018, In: JAMA Psychiatry. 75, 1, p. 96-98 3 p.

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

    Open Access
    15 Citations (Scopus)

  • Association of genetic susceptibility variants for type 2 diabetes with breast cancer risk in women of European ancestry

    Zhao, Z., Wen, W., Michailidou, K., Bolla, M. K., Wang, Q., Zhang, B., Long, J., Shu, X-O., Schmidt, M. K., Milne, R. L., Garcia-Closas, M., Chang-Claude, J., Lindstrom, S., Bojesen, S. E., Ahsan, H., Aittomaki, K., Andrulis, I. L., Anton-Culver, H., Arndt, V., Beckmann, M. W., & 98 othersBeeghly-Fadiel, A., Benitez, J., Blomqvist, C., Bogdanova, N. V., Borresen-Dale, A-L., Brand, J., Brauch, H., Brenner, H., Burwinkel, B., Cai, Q., Casey, G., Chenevix-Trench, G., Couch, F. J., Cox, A., Cross, S. S., Czene, K., Doerk, T., Dumont, M., Fasching, P. A., Figueroa, J., Flesch-Janys, D., Fletcher, O., Flyger, H., Fostira, F., Gammon, M., Giles, G. G., Guenel, P., Haiman, C. A., Hamann, U., Harrington, P., Hartman, M., Hooning, M. J., Hopper, J. L., Jakubowska, A., Jasmine, F., John, E. M., Johnson, N., Kabisch, M., Khan, S., Kibriya, M., Knight, J. A., Kosma, V-M., Kriege, M., Kristensen, V., Le Marchand, L., Lee, E., Li, J., Lindblom, A., Lophatananon, A., Luben, R., Lubinski, J., Malone, K. E., Mannermaa, A., Manoukian, S., Margolin, S., Marme, F., McLean, C., Meijers-Heijboer, H., Meindl, A., Miao, H., Muir, K., Neuhausen, S. L., Nevanlinna, H., Neven, P., Olson, J. E., Perkins, B., Peterlongo, P., Phillips, K-A., Pylkas, K., Rudolph, A., Santella, R., Sawyer, E. J., Schmutzler, R. K., Schoemaker, M., Shah, M., Shrubsole, M., Southey, M. C., Swerdlow, A. J., Toland, A. E., Tomlinson, I., Torres, D., Therese Truong, T., Ursin, G., Van Der Luijt, R. B., Verhoef, S., Wang-Gohrke, S., Whittemore, A. S., Winqvist, R., Zamora, M. P., Zhao, H., Dunning, A. M., Simard, J., Hall, P., Kraft, P., Pharoah, P., Hunter, D., Easton, D. F. & Zheng, W., May 2016, In: CCC. Cancer Causes and Control. 27, 5, p. 679-693

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

    20 Citations (Scopus)

  • Association of Genomic Domains in BRCA1 and BRCA2 with Prostate Cancer Risk and Aggressiveness

    Patel, V. L., Busch, E. L., Friebel, T. M., Cronin, A., Leslie, G., McGuffog, L., Adlard, J., Agata, S., Agnarsson, B. A., Ahmed, M., Aittomäki, K., Alducci, E., Andrulis, I. L., Arason, A., Arnold, N., Artioli, G., Arver, B., Auber, B., Azzollini, J., Balmaña, J., & 244 othersBarkardottir, R. B., Barnes, D. R., Barroso, A., Barrowdale, D., Belotti, M., Benitez, J., Bertelsen, B., Blok, M. J., Bodrogi, I., Bonadona, V., Bonanni, B., Bondavalli, D., Boonen, S. E., Borde, J., Borg, A., Bradbury, A. R., Brady, A., Brewer, C., Brunet, J., Buecher, B., Buys, S. S., Cabezas-Camarero, S., Caldés, T., Caliebe, A., Caligo, M. A., Calvello, M., Campbell, I. G., Carnevali, I., Carrasco, E., Chan, T. L., Chu, A. T. W., Chung, W. K., Claes, K. B. M., Collaborators, G. S., Collaborators, E., Cook, J., Cortesi, L., Couch, F. J., Daly, M. B., Damante, G., Darder, E., Davidson, R., de la Hoya, M., Puppa, L. D., Dennis, J., Díez, O., Ding, Y. C., Ditsch, N., Domchek, S. M., Donaldson, A., Dworniczak, B., Easton, D. F., Eccles, D. M., Eeles, R. A., Ehrencrona, H., Ejlertsen, B., Engel, C., Evans, D. G., Faivre, L., Faust, U., Feliubadaló, L., Foretova, L., Fostira, F., Fountzilas, G., Frost, D., García-Barberán, V., Garre, P., Gauthier-Villars, M., Géczi, L., Gehrig, A., Gerdes, A. M., Gesta, P., Giannini, G., Glendon, G., Godwin, A. K., Radice, P., Greene, M. H., Gutierrez-Barrera, A. M., Hahnen, E., Hamann, U., Hauke, J., Herold, N., Hogervorst, F. B. L., Honisch, E., Hopper, J. L., Hulick, P. J., Investigators, KC. F., Investigators, H., Izatt, L., Jager, A., James, P., Janavicius, R., Jensen, U. B., Jensen, T. D., Johannsson, O. T., John, E. M., Joseph, V., Kang, E., Kast, K., Kiiski, J. I., Kim, S. W., Kim, Z., Ko, K. P., Konstantopoulou, I., Kramer, G., Krogh, L., Kruse, T. A., Kwong, A., Larsen, M., Lasset, C., Lautrup, C., Lazaro, C., Lee, J., Lee, J. W., Lee, M. H., Lemke, J., Lesueur, F., Liljegren, A., Lindblom, A., Llovet, P., Lopez-Fernández, A., Lopez-Perolio, I., Lorca, V., Loud, J. T., Ma, E. S. K., Mai, P. L., Manoukian, S., Mari, V., Martin, L., Matricardi, L., Mebirouk, N., Medici, V., Meijers-Heijboer, H. E. J., Meindl, A., Mensenkamp, A. R., Miller, C., Gomes, D. M., Montagna, M., Mooij, T. M., Moserle, L., Mouret-Fourme, E., Mulligan, A. M., Nathanson, K. L., Navratilova, M., Nevanlinna, H., Niederacher, D., Nielsen, F. C. C., Nikitina-Zake, L., Offit, K., Olah, E., Olopade, O. I., Ong, K. R., Osorio, A., Ott, C. E., Palli, D., Park, S. K., Parsons, M. T., Pedersen, I. S., Peissel, B., Peixoto, A., Pérez-Segura, P., Peterlongo, P., Petersen, A. H., Porteous, M. E., Pujana, M. A., Radice, P., Ramser, J., Rantala, J., Rashid, M. U., Rhiem, K., Rizzolo, P., Robson, M. E., Rookus, M. A., Rossing, C. M., Ruddy, K. J., Santos, C., Saule, C., Scarpitta, R., Schmutzler, R. K., Schuster, H., Senter, L., Seynaeve, C. M., Shah, P. D., Sharma, P., Shin, V. Y., Silvestri, V., Simard, J., Singer, C. F., Skytte, A. B., Snape, K., Solano, A. R., Soucy, P., Southey, M. C., Spurdle, A. B., Steele, L., Steinemann, D., Stoppa-Lyonnet, D., Stradella, A., Sunde, L., Sutter, C., Tan, Y. Y., Teixeira, M. R., Teo, S. H., Thomassen, M., Tibiletti, M. G., Tischkowitz, M., Tognazzo, S., Toland, A. E., Tommasi, S., Torres, D., Toss, A., Trainer, A. H., Tung, N., van Asperen, C. J., van der Baan, F. H., van der Kolk, L. E., van der Luijt, R. B., van Hest, L. P., Varesco, L., Varon-Mateeva, R., Viel, A., Vierstrate, J., Villa, R., von Wachenfeldt, A., Wagner, P., Wang-Gohrke, S., Wappenschmidt, B., Weitzel, J. N., Wieme, G., Yadav, S., Yannoukakos, D., Yoon, S. Y., Zanzottera, C., Zorn, K. K., D'Amico, A. V., Freedman, M. L., Pomerantz, M. M., Chenevix-Trench, G., Antoniou, A. C., Neuhausen, S. L., Ottini, L., Nielsen, H. R., Rebbeck, T. R. & Goldgar, D. E., 1 Feb 2020, In: Cancer research. 80, 3, p. 624-638 15 p.

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

    36 Citations (Scopus)

  • Association of low-frequency and rare coding variants with information processing speed

    Bressler, J., Davies, G., Smith, A. V., Saba, Y., Bis, J. C., Jian, X., Hayward, C., Yanek, L., Smith, J. A., Mirza, S. S., Wang, R., Adams, H. H. H., Becker, D., Boerwinkle, E., Campbell, A., Cox, S. R., Eiriksdottir, G., Fawns-Ritchie, C., Gottesman, R. F., Grove, M. L., & 35 othersGuo, X., Hofer, E., Kardia, S. L. R., Knol, M. J., Koini, M., Lopez, O. L., Marioni, R. E., Nyquist, P., Pattie, A., Polasek, O., Porteous, D. J., Rudan, I., Satizabal, C. L., Schmidt, H., Schmidt, R., Sidney, S., Simino, J., Smith, B. H., Turner, S. T., van der Lee, S. J., Ware, E. B., Whitmer, R. A., Yaffe, K., Yang, Q., Zhao, W., Gudnason, V., Launer, L. J., Fitzpatrick, A. L., Psaty, B. M., Fornage, M., Arfan Ikram, M., van Duijn, C. M., Seshadri, S., Mosley, T. H. & Deary, I. J., 1 Dec 2021, In: Translational Psychiatry. 11, 1, 613.

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

    Open Access
    1 Citation (Scopus)

  • Association of mitochondrial variants and haplogroups identified by whole exome sequencing with Alzheimer's disease

    Alzheimer's Disease Sequencing Project, 2021, (Accepted/In press) In: Alzheimer's and Dementia.

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

    Open Access
    9 Citations (Scopus)

  • Association of PHB 1630 C > T and MTHFR 677 C > T polymorphisms with breast and ovarian cancer risk in BRCA1/2 mutation carriers: results from a multicenter study

    AUTHOR GROUP, Nelen, M. R., van den Ouweland, A. M. W., Seynaeve, C., van der Luijt, R. B., Devilee, P., Easton, D. F., Peock, S., Frost, D., Platte, R., Ellis, S. D., Fineberg, E., Evans, D. G., Lalloo, F., Eeles, R., Jacobs, C., Adlard, J., Davidson, R., Eccles, D., Cole, T., & 31 othersCook, J., Godwin, A., Bove, B., Stoppa-Lyonnet, D., Caux-Moncoutier, V., Belotti, M., Tirapo, C., Mazoyer, S., Barjhoux, L., Boutry-Kryza, N., Pujol, P., Coupier, I., Peyrat, J. P., Vennin, P., Muller, D., Fricker, J. P., Venat-Bouvet, L., Johannsson, O., Isaacs, C., Schmutzler, R., Wappenschmidt, B., Meindl, A., Arnold, N., Varon-Mateeva, R., Niederacher, D., Sutter, C., Deissler, H., Preisler-Adams, S., Simard, J., Soucy, P. & Durocher, F., 2012, In: British journal of cancer. 106, 12, p. 2016-2024

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

    23 Citations (Scopus)

  • Association of polygenic score for major depression with response to lithium in patients with bipolar disorder

    Major Depressive Disorder Working Group of the Psychiatric Genomics Consortium, Jun 2021, In: Molecular psychiatry. 26, 6, p. 2457-2470 14 p.

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

    Open Access
    38 Citations (Scopus)

  • Association of rare MSH6 variants with familial breast cancer

    Wasielewski, M., Riaz, M., Vermeulen, J., van den Ouweland, A., Labrijn-Marks, I., Olmer, R., van der Spaa, L., Klijn, J. G. M., Meijers-Heijboer, H., Dooijes, D. & Schutte, M., 2010, In: Breast cancer research and treatment. 123, 2, p. 315-320

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

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    11 Citations (Scopus)

  • Association of whole-genome and NETRIN1 signaling pathway–derived polygenic risk scores for Major Depressive Disorder and white matter microstructure in the UK Biobank

    Major Depressive Disorder Working Group of the Psychiatric Genomics Consortium & 23andMe Research Team, 1 Jan 2019, In: Biological Psychiatry: Cognitive Neuroscience and Neuroimaging. 4, 1, p. 91-100 10 p.

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  • Associations of autozygosity with a broad range of human phenotypes

    Clark, D. W., Okada, Y., Moore, K. H. S., Mason, D., Pirastu, N., Gandin, I., Mattsson, H., Barnes, C. L. K., Lin, K., Zhao, J. H., Deelen, P., Rohde, R., Schurmann, C., Guo, X., Giulianini, F., Zhang, W., Medina-Gomez, C., Karlsson, R., Bao, Y., Bartz, T. M., & 416 othersBaumbach, C., Biino, G., Bixley, M. J., Brumat, M., Chai, J-F., Corre, T., Cousminer, D. L., Dekker, A. M., Eccles, D. A., van Eijk, K. R., Fuchsberger, C., Gao, H., Germain, M., Gordon, S. D., de Haan, H. G., Harris, S. E., Hofer, E., Huerta-Chagoya, A., Igartua, C., Jansen, I. E., Jia, Y., Kacprowski, T., Karlsson, T., Kleber, M. E., Li, S. A., Li-Gao, R., Mahajan, A., Matsuda, K., Meidtner, K., Meng, W., Montasser, M. E., van der Most, P. J., Munz, M., Nutile, T., Palviainen, T., Prasad, G., Prasad, R. B., Priyanka, T. D. S., Rizzi, F., Salvi, E., Sapkota, B. R., Shriner, D., Skotte, L., Smart, M. C., Smith, A. V., van der Spek, A., Spracklen, C. N., Strawbridge, R. J., Tajuddin, S. M., Trompet, S., Turman, C., Verweij, N., Viberti, C., Wang, L., Warren, H. R., Wootton, R. E., Yanek, L. R., Yao, J., Yousri, N. A., Zhao, W., Adeyemo, A. A., Afaq, S., Aguilar-Salinas, C. A., Akiyama, M., Albert, M. L., Allison, M. A., Alver, M., Aung, T., Azizi, F., Bentley, A. R., Boeing, H., Boerwinkle, E., Borja, J. B., de Borst, G. J., Bottinger, E. P., Broer, L., Campbell, H., Chanock, S., Chee, M-L., Chen, G., Chen, Y-D. I., Chen, Z., Chiu, Y-F., Cocca, M., Collins, F. S., Concas, M. P., Corley, J., Cugliari, G., van Dam, R. M., Damulina, A., Daneshpour, M. S., Day, F. R., Delgado, G. E., Dhana, K., Doney, A. S. F., Dörr, M., Doumatey, A. P., Dzimiri, N., Ebenesersdóttir, S. S., Elliott, J., Elliott, P., Ewert, R., Felix, J. F., Fischer, K., Freedman, B. I., Girotto, G., Goel, A., Gögele, M., Goodarzi, M. O., Graff, M., Granot-Hershkovitz, E., Grodstein, F., Guarrera, S., Gudbjartsson, D. F., Guity, K., Gunnarsson, B., Guo, Y., Hagenaars, S. P., Haiman, C. A., Halevy, A., Harris, T. B., Hedayati, M., van Heel, D. A., Hirata, M., Höfer, I., Hsiung, C. A., Huang, J., Hung, Y-J., Ikram, M. A., Jagadeesan, A., Jousilahti, P., Kamatani, Y., Kanai, M., Kerrison, N. D., Kessler, T., Khaw, K-T., Khor, C. C., de Kleijn, D. P. V., Koh, W-P., Kolcic, I., Kraft, P., Krämer, B. K., Kutalik, Z., Kuusisto, J., Langenberg, C., Launer, L. J., Lawlor, D. A., Lee, I. T., Lee, W-J., Lerch, M. M., Li, L., Liu, J., Loh, M., London, S. J., Loomis, S., Lu, Y., Luan, J., Mägi, R., Manichaikul, A. W., Manunta, P., Másson, G. S., Matoba, N., Mei, X. W., Meisinger, C., Meitinger, T., Mezzavilla, M., Milani, L., Millwood, I. Y., Momozawa, Y., Moore, A., Morange, P-E., Moreno-Macías, H., Mori, T. A., Morrison, A. C., Muka, T., Murakami, Y., Murray, A. D., de Mutsert, R., Mychaleckyj, J. C., Nalls, M. A., Nauck, M., Neville, M. J., Nolte, I. M., Ong, K. K., Orozco, L., Padmanabhan, S., Pálsson, G., Pankow, J. 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B., Wijmenga, C., Wong, T-Y., Wright, J., Yang, J., Yu, L., Zemel, B. S., Zonderman, A. B., Perola, M., Magnusson, P. K. E., Uitterlinden, A. G., Kooner, J. S., Chasman, D. I., Loos, R. J. F., Franceschini, N., Franke, L., Haley, C. S., Hayward, C., Walters, R. G., Perry, J. R. B., Esko, T. N., Helgason, A., Stefansson, K., Joshi, P. K., Kubo, M. & Wilson, J. F., 1 Dec 2019, In: Nature communications. 10, 1, p. 1-17 17 p., 4957.

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  • Associations of Brain Pathology Cognitive and Physical Markers With Age in Cognitively Normal Individuals Aged 60-102 Years

    Legdeur, N., Tijms, B. M., Konijnenberg, E., den Braber, A., ten Kate, M., Sudre, C. H., Tomassen, J., Badissi, M., Yaqub, M., Barkhof, F., van Berckel, B. N., Boomsma, D. I., Scheltens, P., Holstege, H., Maier, A. B. & Visser, P. J., 5 Jun 2020, In: The Journals of Gerontology. Series A, Biological Sciences and Medical Sciences. 75, 9, p. 1609-1617 9 p.

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  • Associations of height, body mass index, and weight gain with breast cancer risk in carriers of a pathogenic variant in BRCA1 or BRCA2: the BRCA1 and BRCA2 Cohort Consortium

    EMBRACE Collaborators, Kast, K., John, E. M., Hopper, J. L., Andrieu, N., Noguès, C., Mouret-Fourme, E., Lasset, C., Fricker, J-P., Berthet, P., Mari, V. R., Salle, L., Schmidt, M. K., Ausems, M. G. E. M., Garcia, E. B. G., van de Beek, I., Wevers, M. R., Evans, D. G., Tischkowitz, M., Lalloo, F., & 31 othersCook, J., Izatt, L., Tripathi, V., Snape, K., Musgrave, H., Sharif, S., Murray, J., Colonna, S. V., Andrulis, I. L., Daly, M. B., Southey, M. C., de la Hoya, M., Osorio, A., Foretova, L., Berkova, D., Gerdes, A-M., Olah, E., Jakubowska, A., Singer, C. F., Tan, Y., Augustinsson, A., Rantala, J., Simard, J., Schmutzler, R. K., Milne, R. L., Phillips, K-A., Terry, M. B., Goldgar, D., van Leeuwen, F. E., Mooij, T. M. & Antoniou, A. C., 1 Dec 2023, In: Breast Cancer Research. 25, 1, 72.

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  • Association studies of up to 1.2 million individuals yield new insights into the genetic etiology of tobacco and alcohol use

    23andMe Research Team & HUNT All-In Psychiatry, 1 Feb 2019, In: Nature Genetics. 51, 2, p. 237-244 8 p.

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  • Associations with tight junction genes PARD3 and MAGI2 in Dutch patients point to a common barrier defect for coeliac disease and ulcerative colitis

    Wapenaar, MC., Monsuur, A. J., van Bodegraven, A. A., Weersma, R. K., Bevova, M. R., Linskens, R. K., Howdle, P., Holmes, G., Mulder, C. J. J., Dijkstra, G., van Heel, D. A. & Wijmenga, C., 2008, In: Gut. 57, 4, p. 463-467

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  • Assortative mating and parental genetic relatedness contribute to the pathogenicity of variably expressive variants

    Smolen, C., Jensen, M., Dyer, L., Pizzo, L., Tyryshkina, A., Banerjee, D., Rohan, L., Huber, E., el Khattabi, L., Prontera, P., Caberg, J-H., van Dijck, A., Schwartz, C., Faivre, L., Callier, P., Mosca-Boidron, A-L., Lefebvre, M., Pope, K., Snell, P., Lockhart, P. J., & 23 othersCastiglia, L., Galesi, O., Avola, E., Mattina, T., Fichera, M., Luana Mandarà, G. M., Bruccheri, M. G., Pichon, O., le Caignec, C., Stoeva, R., Cuinat, S., Mercier, S., Bénéteau, C., Blesson, S., Nordsletten, A., Martin-Coignard, D., Sistermans, E., Kooy, R. F., Amor, D. J., Romano, C., Isidor, B., Juusola, J. & Girirajan, S., 7 Dec 2023, In: American journal of human genetics. 110, 12, p. 2015-2028

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  • Assortative mixing in micro-architecturally annotated brain connectomes

    Bazinet, V., Hansen, J. Y., Vos de Wael, R., Bernhardt, B. C., van den Heuvel, M. P. & Misic, B., 18 May 2023, In: Nature communications. 14, 1, p. 1-16 16 p., 2850.

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  • A standard set of outcome measures for the comprehensive assessment of osteogenesis imperfecta

    Nijhuis, W., Franken, A., Ayers, K., Damas, C., Folkestad, L., Forlino, A., Fraschini, P., Hill, C., Janus, G., Kruse, R., Lande Wekre, L., Michiels, L., Montpetit, K., Panzeri, L., Porquet-Bordes, V., Rauch, F., Sakkers, R., Salles, J-P., Semler, O., Sun, J., & 7 othersTo, M., Tosi, L., Yao, Y., Yeung, E. H. K., Zhytnik, L., Zillikens, M. C. & Verhoef, M., 1 Dec 2021, In: Orphanet Journal of Rare Diseases. 16, 1, 140.

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  • A strategy for molecular diagnostics of Fanconi anemia in Brazilian patients

    Pilonetto, D. V., Pereira, N. F., Bonfim, C. M. S., Ribeiro, L. L., Bitencourt, M. A., Kerkhoven, L., Floor, K., Ameziane, N., Joenje, H., Gille, J. J. P. & Pasquini, R., 2017, In: Molecular genetics and genomic medicine. 5, 4, p. 360-372 13 p.

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  • A study of asthma severity in adult twins

    Thomsen, S. F., van der Sluis, S., Kyvik, K. O. & Backer, V., 2012, In: The Clinical Respiratory Journal. 6, 4, p. 228-237 10 p.

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  • A study of the clinical and radiological features in a cohort of 93 patients with a COL2A1 mutation causing spondyloepiphyseal dysplasia congenita or a related phenotype

    Terhal, P. A., Nievelstein, R. J. A. J., Verver, E. J. J., Topsakal, V., van Dommelen, P., Hoornaert, K., Le Merrer, M., Zankl, A., Simon, M. E. H., Smithson, S. F., Marcelis, C., Kerr, B., Clayton-Smith, J., Kinning, E., Mansour, S., Elmslie, F., Goodwin, L., van der Hout, A. H., Veenstra-Knol, H. E., Herkert, J. C., & 36 othersLund, A. M., Hennekam, R. C. M., Mégarbané, A., Lees, M. M., Wilson, L. C., Male, A., Hurst, J., Alanay, Y., Annerén, G., Betz, R. C., Bongers, E. M. H. F., Cormier-Daire, V., Dieux, A., David, A., Elting, M. W., van den Ende, J., Green, A., van Hagen, J. M., Hertel, N. T., Holder-Espinasse, M., den Hollander, N., Homfray, T., Hove, H. D., Price, S., Raas-Rothschild, A., Rohrbach, M., Schroeter, B., Suri, M., Thompson, E. M., Tobias, E. S., Toutain, A., Vreeburg, M., Wakeling, E., Knoers, N. V., Coucke, P. & Mortier, G. R., 2015, In: American journal of medical genetics. Part A. 167, 3, p. 461-475

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  • Asynchronous pineoblastoma is more likely after early diagnosis of retinoblastoma: a meta-analysis

    de Jong, M. C., Shaikh, F., Gallie, B., Kors, W. A., Jansen, R. W., Dommering, C., de Graaf, P., Moll, A. C., Dimaras, H., Shroff, M., Kivelä, T. T. & Soliman, S. E., Feb 2022, In: Acta ophthalmologica. 100, 1, p. e47-e52

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    3 Citations (Scopus)

  • A tailored approach to informing relatives at risk of inherited cardiac conditions: results of a randomised controlled trial

    van den Heuvel, L. M., Hoedemaekers, Y. M., Baas, A. F., Baars, M. J. H., van Tintelen, J. P., Smets, E. M. A. & Christiaans, I., Feb 2022, In: European journal of human genetics. 30, 2, p. 203-210 8 p.

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  • A tailored approach towards informing relatives at risk of inherited cardiac conditions: Study protocol for a randomised controlled trial

    van den Heuvel, L. M., Hoedemaekers, Y. M., Baas, A. F., van Tintelen, J. P., Smets, E. M. A. & Christiaans, I., 1 Jul 2019, In: BMJ Open. 9, 7, e025660.

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  • Ataxia with vitamin E deficiency: Biochemical effects of malcompliance with vitamin E therapy

    Schuelke, M., Finckh, B., Sistermans, E. A., Ausems, M. G. E. M., Hübner, C., Von Moers, A. & Murphy, P. L., 28 Nov 2000, In: Neurology. 55, 10, p. 1584-1586 3 p.

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  • A transcriptome-wide association study of 229,000 women identifies new candidate susceptibility genes for breast cancer

    BCAC, Cornelissen, S., Couch, F. J., Cox, D., Cox, A., Cross, S. S., Cunningham, J. M., Czene, K., Daly, M. B., Devilee, P., Doheny, K. F., Dörk, T., Dos-Santos-Silva, I., Dumont, M., Dwek, M., Eccles, D. M., Eilber, U., Eliassen, A. H., Engel, C., Eriksson, M., & 141 othersFachal, L., Fasching, P. A., Figueroa, J., Flesch-Janys, D., Fletcher, O., Flyger, H., Fritschi, L., Gabrielson, M., Gago-Dominguez, M., Gapstur, S. M., García-Closas, M., Gaudet, M. M., Ghoussaini, M., Giles, G. G., Goldberg, M. S., Goldgar, D. E., González-Neira, A., Guénel, P., Hahnen, E., Haiman, C. A., Håkansson, N., Hall, P., Hallberg, E., Hamann, U., Harrington, P., Hein, A., Hicks, B., Hillemanns, P., Hollestelle, A., Hoover, R. N., Hopper, J. L., Huang, G., Humphreys, K., Hunter, D. J., Jakubowska, A., Janni, W., John, E. M., Johnson, N., Jones, K., Jones, M. E., Jung, A., Kaaks, R., Kerin, M. J., Khusnutdinova, E., Kosma, V-M., Kristensen, V. N., Lambrechts, D., le Marchand, L., Li, J., Lindström, S., Lissowska, J., Lo, W-Y., Loibl, S., Lubinski, J., Luccarini, C., Lux, M. P., MacInnis, R. J., Maishman, T., Kostovska, I. M., Mannermaa, A., Manson, J. E., Margolin, S., Mavroudis, D., Meindl, A., Menon, U., Meyer, J., Mulligan, A. M., Neuhausen, S. L., Nevanlinna, H., Neven, P., Nielsen, S. F., Nordestgaard, B. R. G., Olopade, O. I., Olson, J. E., Olsson, H. K., Peterlongo, P., Peto, J., Plaseska-Karanfilska, D., Prentice, R., Presneau, N., Pylkäs, K., Rack, B., Radice, P., Rahman, N., Rennert, G., Rennert, H. S., Rhenius, V., Romero, A., Romm, J., Rudolph, A., Saloustros, E., Sandler, D. P., Sawyer, E. J., Schmidt, M. K., Schmutzler, R. K., Schneeweiss, A., Scott, R. J., Scott, C. G., Seal, S., Shah, M., Shrubsole, M. J., Smeets, A., Southey, M. C., Spinelli, J. J., Stone, J., Surowy, H., Swerdlow, A. J., Tamimi, R. M., Tapper, W., Taylor, J. A., Terry, M. B., Tessier, D. C., Thomas, A., Thöne, K., Tollenaar, R. A. E. M., Torres, D., Truong, T., Untch, M., Vachon, C., van den Berg, D., Vincent, D., Weinberg, C. R., Wendt, C., Whittemore, A. S., Wildiers, H., Willett, W. C., Winqvist, R., Wolk, A., Xia, L., Yang, X. R., Ziogas, A., Ziv, E., Dunning, A. M., Pharoah, P. D. P., Simard, J., Milne, R. L., Edwards, S. L., Kraft, P., Easton, D. F., Chenevix-Trench, G. & Zheng, W., Jul 2018, In: Nature Genetics. 50, 7, p. 968-+

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  • Atrial and ventricular myosin heavy-chain expression in the developing chicken heart: strengths and limitations of non-radioactive in situ hybridization: Strengths and limitations of non-radioactive in situ hybridization

    Somi, S., Klein, A. T. J., Houweling, A. C., Ruijter, J. M., Moorman, A. F. M., van den Hoff, M. J. B. & Buffing, A. A. M., Jun 2006, In: Journal of Histochemistry and Cytochemistry. 54, 6, p. 649-664 16 p.

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  • A triplication of the Williams-Beuren syndrome region in a patient with mental retardation, a severe expressive language delay, behavioural problems and dysmorphisms

    Beunders, G., van de Kamp, J. M., Veenhoven, R. H., van Hagen, J. M., Nieuwint, A. W. M. & Sistermans, E. A., 2010, In: Journal of medical genetics. 47, 4, p. 271-275

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  • Attentional switching forms a genetic link between attention problems and autistic traits in adults

    Polderman, T. J. C., Hoekstra, R. A., Vinkhuyzen, A. A. E., Sullivan, P. F., van der Sluis, S. & Posthuma, D., 2013, In: Psychological Medicine. 43, 9, p. 1985-1996

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  • Attitudes and risk perception of parents of different ethnic backgrounds regarding meningococcal C vaccination

    Timmermans, DRM., Henneman, L., Hirasing, RA. & van der Wal, G., 9 May 2005, In: Vaccine. 23, 25, p. 3329-3335

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  • Attitudes of cystic fibrosis patients and parents toward carrier screening and related reproductive issues

    Janssens, S., Chokoshvilli, D., Binst, C., Mahieu, I., Henneman, L., De Paepe, A. & Borry, P., Apr 2016, In: European journal of human genetics. 24, 4, p. 506-512

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  • Attitudes of cystic fibrosis patients and their parents towards direct-to-consumer genetic testing for carrier status

    Janssens, S., Kalokairinou, L., Chokoshvilli, D., Binst, C., Mahieu, I., Henneman, L., De Paepe, A. & Barry, P., 2015, In: Personalized Medicine. 12, 2, p. 99-107

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  • Attitudes of general practitioners and midwives towards ethnicity-based haemoglobinopathy-carrier screening

    Jans, S. M. P. J., de Jonge, J., Henneman, L., Cornel, M. C. & Lagro-Janssen, A. L., 2012, In: European journal of human genetics. 20, 11, p. 1112-1117

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  • Attitudes of Patients with Adrenoleukodystrophy towards Sex-Specific Newborn Screening

    Yska, H. A. F., Henneman, L., Barendsen, R. W., Engelen, M. & Kemp, S., 1 Sept 2023, In: International Journal of Neonatal Screening. 9, 3, 51.

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  • Attitudes of potential providers towards preconceptional cystic fibrosis carrier screening

    Poppelaars, F. A. M., Adèr, H. J., Cornel, M. C., Henneman, L., Hermens, R. P. M. G., van der Wal, G. & ten Kate, L. P., Feb 2004, In: Journal of genetic counseling. 13, 1, p. 31-44 14 p.

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

    28 Citations (Scopus)

  • Attitudes of pregnant women and male partners towards non-invasive prenatal testing and widening the scope of prenatal screening

    van Schendel, R. V., Kleinveld, J. H., Dondorp, W. J., Pajkrt, E., Timmermans, D. R. M., Holtkamp, K. C. A., Karsten, M., Vlietstra, A. L., Lachmeijer, A. M. A. & Henneman, L., 2014, In: European journal of human genetics. 22, 12, p. 1345-1350

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    96 Citations (Scopus)

  • Attitudes of relatives of mucopolysaccharidosis type III patients toward preconception expanded carrier screening

    Nijmeijer, S. C. M., Conijn, T., Lakeman, P., Henneman, L., Wijburg, F. A. & Haverman, L., 1 Oct 2020, In: European journal of human genetics. 28, 10, p. 1331-1340 10 p.

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    7 Citations (Scopus)

  • Attitudes of the general population towards preconception expanded carrier screening for autosomal recessive disorders including inborn errors of metabolism

    Nijmeijer, S. C. M., Conijn, T., Lakeman, P., Henneman, L., Wijburg, F. A. & Haverman, L., 1 Jan 2019, In: Molecular Genetics and Metabolism. 126, 1, p. 14-22 9 p.

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    32 Citations (Scopus)

  • Attitudes towards reproductive issues and carrier testing among adult patients and parents of children with cystic fibrosis (CF)

    Henneman, L., Bramsen, I., Van Os, TAM., Reuling, IEW., Heyerman, HGM., van der Laag, J., van der Ploeg, HM. & ten Kate, LP., Jan 2001, In: Prenatal diagnosis. 21, 1, p. 1-9

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    62 Citations (Scopus)

  • At What Age Could Screening for Familial Retinoblastoma Be Discontinued? A Systematic Review

    van Hoefen Wijsard, M., Serné, S. H., Otten, R. H., Bosscha, M. I., Dommering, C. J., Fabius, A. W. & Moll, A. C., 2 Apr 2021, In: Cancers. 13, 8, 1942.

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

    Open Access
    2 Citations (Scopus)

  • A Twin-Sibling Study on the Relationship Between Exercise Attitudes and Exercise Behavior

    Huppertz, C., Bartels, M., Jansen, I. E., Boomsma, D. I., Willemsen, G., de Moor, M. H. M. & de Geus, E. J. C., 2014, In: Behavior genetics. 44, 1, p. 45-55 11 p.

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

    28 Citations (Scopus)

  • A Two-Stage Meta-Analysis Identifies Several New Loci for Parkinson's Disease

    Plagnol, V., Nalls, M. A., Bras, J. M., Hernandez, D. G., Sharma, M., Sheerin, U. M., Saad, M., Simon-Sanchez, J., Schulte, C., Lesage, S., Sveinbjornsdottir, S., Amouyel, P., Arepalli, S., Band, G., Barker, R. A., Bellinguez, C., Ben-Shlomo, Y., Berendse, H. W., Berg, D., Bhatia, K., & 120 othersde Bie, R. M. A., Biffi, A., Bloem, B., Bochdanovits, Z., Bonin, M., Brockmann, K., Brooks, J., Burn, D. J., Charlesworth, G., Chen, H. L., Chinnery, P. F., Chong, S., Clarke, C. E., Cookson, M. R., Cooper, J. M., Corvol, J. C., Counsell, C., Damier, P., Dartigues, J. F., Deloukas, P., Deuschl, G., Dexter, D. T., van Dijk, K. D., Dillman, A., Durif, F., Durr, A., Edkins, S., Evans, J. R., Foltynie, T., Freeman, C., Gao, J. J., Gardner, M., Gibbs, J. R., Goate, A., Gray, E., Guerreiro, R., Gustafsson, O., Harris, C., Hellenthal, G., van Hilten, J. J., Hofman, A., Hollenbeck, A., Holton, J., Hu, M., Huang, X. M., Huber, H., Hudson, G., Hunt, S. E., Huttenlocher, J., Illig, T., Jonsson, P. V., Langford, C., Lees, A., Lichtner, P., Limousin, P., Lopez, G., Lorenz, D., McNeill, A., Moorby, C., Moore, M., Morris, H., Morrison, K. E., Mudanohwo, E., O'Sullivan, S. S., Pearson, J., Pearson, R., Perlmutter, J. S., Petursson, H., Pirinen, M., Pollak, P., Post, B., Potter, S., Ravina, B., Revesz, T., Riess, O., Rivadeneira, F., Rizzu, P., Ryten, M., Sawcer, S., Heutink, P., Wood, N. W., Duerr, A., Schapira, A., Scheffer, H., Shaw, K., Shoulson, I., Sidransky, E., de Silva, R., Smith, C., Spencer, C. C. A., Stefansson, H., Steinberg, S., Stockton, J. D., Strange, A., Su, Z., Talbot, K., Tanner, C. M., Tashakkori-Ghanbaria, A., Tison, F., Trabzuni, D., Traynor, B. J., Uitterlinden, A. G., Vandrovcova, J., Velseboer, D., Vidailhet, M., Vukcevic, D., Walker, R., van de Warrenburg, B., Weale, M. E., Wickremaratchi, M., Williams, N., Williams-Gray, C. H., Winder-Rhodes, S., Stefansson, K., Martinez, M., Donnelly, P., Singleton, A. B., Hardy, J., Brice, A. & Gasser, T., 2011, In: PLoS genetics. 7, 6, p. e1002142 e1002142.

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    Open Access
    246 Citations (Scopus)

  • Atypical pyridoxine-dependent epilepsy due to a pseudoexon in ALDH7A1

    Milh, M., Pop, A., Kanhai, W., Villeneuve, N., Cano, A., Struijs, E. A., Salomons, G. S., Chabrol, B. & Jakobs, C. A. J. M., 2012, In: Molecular Genetics and Metabolism. 105, 4, p. 684-686

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    9 Citations (Scopus)

  • A Ubiquitin-Binding Protein, FAAP20, Links RNF8-Mediated Ubiquitination to the Fanconi Anemia DNA Repair Network

    Yan, Z. J., Guo, R., Paramasivam, M., Shen, W. P., Ling, C., Fox, D., Wang, Y. C., Oostra, A. B., Kuehl, J., Lee, D. Y., Takata, M., Hoatlin, M. E., Schindler, D., Joenje, H., de Winter, J. P., Li, L., Seidman, M. M. & Wang, W. D., 2012, In: Molecular Cell. 47, 1, p. 61-75

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    59 Citations (Scopus)

  • A unique second donor splice site in the intron 5 sequence of the HLA-A*11 alleles results in a class I transcript encoding a molecule with an elongated cytoplasmic domain

    Tijssen, H. J., Sistermans, E. A. & Joosten, I., 2000, In: Tissue antigens. 55, 5, p. 422-428 7 p.

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    9 Citations (Scopus)

  • Automated analysis of neuronal morphology, synapse number and synaptic recruitment

    Schmitz, S. K., Hjorth, J. J. J., Joemai, R. M. S., Wijntjes, R., Eijgenraam, S., de Bruijn, P., Georgiou, C., de Jong, A. P. H., van Ooyen, A., Verhage, M., Cornelisse, L. N., Toonen, R. F. & Veldkamp, W. J. H., 2011, In: Journal of Neuroscience Methods. 195, 2, p. 185-193

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    Open Access
    138 Citations (Scopus)