Quinten Waisfisz

2013

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

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

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

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

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

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

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

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

43 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)

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

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

442 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

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

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.

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

Open Access

34 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.

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

Open Access

786 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

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

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

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

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

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

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)

2016

Acute intermittent porphyria-related leukoencephalopathy

Kevelam, S. H., Neeleman, R. A., Waisfisz, Q., Friesema, E. C. H., Langendonk, J. G. & van der Knaap, M. S., 20 Sept 2016, In: Neurology. 87, 12, p. 1258-1265 8 p.

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12 Citations (Scopus)

Age- and Tumor Subtype Specific Breast Cancer Risk Estimates for CHEK2*1100delC Carriers

Schmidt, M. K., Hogervorst, F., van Hien, R., Cornelissen, S., Broeks, A., Adank, M. A., Meijers, H., Waisfisz, Q., Hollestelle, A., Schutte, M., van den Ouweland, A., Hooning, M., Andrulis, I. L., Anton-Culver, H., Antonenkova, N. N., Antoniou, A. C., Arndt, V., Bermisheva, M., Bogdanova, N. V., Bolla, M. K., & 64 othersBrauch, H., Brenner, H., Bruning, T., Burwinkel, B., Chang-Claude, J., Chenevix-Trench, G., Couch, F. J., Cox, A., Cross, S. S., Czene, K., Dunning, A. M., Fasching, P. A., Figueroa, J., Fletcher, O., Flyger, H., Galle, E., Garcia-Closas, M., Giles, G. G., Haeberle, L., Hall, P., Hillemanns, P., Hopper, J. L., Jakubowska, A., John, E. M., Jones, M., Khusnutdinova, E., Knight, J. A., Kosma, V-M., Kristensen, V., Lee, A., Lindblom, A., Lubinski, J., Mannermaa, A., Margolin, S., Meindl, A., Milne, R. L., Muranen, T. A., Newcomb, P. A., Offit, K., Park-Simon, T-W., Peto, J., Pharoah, P. D. P., Robson, M., Rudolph, A., Sawyer, E. J., Schmutzler, R. K., Seynaeve, C., Soens, J., Southey, M. C., Spurdle, A. B., Surowy, H., Swerdlow, A., Tollenaar, R. A. E. M., Tomlinson, I., Trentham-Dietz, A., Vachon, C., Wang, Q., Whittemore, A. S., Ziogas, A., van der Kolk, L., Nevanlinna, H., Doerk, T., Bojesen, S. & Easton, D. F., 10 Aug 2016, In: Journal of clinical oncology. 34, 23, p. 2750-+

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135 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.

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63 Citations (Scopus)

Cathepsin A-related arteriopathy with strokes and leukoencephalopathy (CARASAL)

Bugiani, M., Kevelam, S. H., Bakels, H. S., Waisfisz, Q., Ceuterick-de Groote, C., Niessen, H. W. M., Abbink, T. E. M., Lesnik Oberstein, S. A. M. J. & van der Knaap, M. S., 25 Oct 2016, In: Neurology. 87, 17, p. 1777-1786 10 p.

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74 Citations (Scopus)

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.

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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

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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)

2017

A recurrent de novo mutation in TMEM106B causes hypomyelinating leukodystrophy

Simons, C., Dyment, D., Bent, S. J., Crawford, J., D'Hooghe, M., Kohlschuetter, A., Venkateswaran, S., Helman, G., Poll-The, B-T., Makowski, C. C., Ito, Y., Kernohan, K., Hartley, T., Waisfisz, Q., Taft, R. J., van der Knaap, M. S., Wolf, N. I. & Kohlschütter, A., Dec 2017, In: Brain. 140, 12, p. 3105-3111

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57 Citations (Scopus)

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.

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852 Citations (Scopus)

Investigating the genetic relationship between Alzheimer’s disease and cancer using GWAS summary statistics

IGAP Consortium, Colorectal Transdisciplinary Study (CORECT), Discovery, Biology, and Risk of Inherited Variants in Breast Cancer (DRIVE), Elucidating Loci Involved in Prostate Cancer Susceptibility (ELLIPSE) & Transdisciplinary Research in Cancer of the Lung (TRICL), 1 Oct 2017, In: Human genetics. 136, 10, p. 1341-1351 11 p.

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31 Citations (Scopus)

Mutations in ACTRT1 and its enhancer RNA elements lead to aberrant activation of Hedgehog signaling in inherited and sporadic basal cell carcinomas

Bal, E., Park, H. S., Belaid-Choucair, Z., Kayserili, H., Naville, M., Madrange, M., Chiticariu, E., Hadj-Rabia, S., Cagnard, N., Kuonen, F., Bachmann, D., Huber, M., Le Gall, C., Côté, F., Hanein, S., Rosti, R. Ö., Aslanger, A. D., Waisfisz, Q., Bodemer, C., Hermine, O., & 17 othersMorice-Picard, F., Labeille, B., Caux, F., Mazereeuw-Hautier, J., Philip, N., Levy, N., Taieb, A., Avril, M. F., Headon, D. J., Gyapay, G., Magnaldo, T., Fraitag, S., Crollius, H. R., Vabres, P., Hohl, D., Munnich, A. & Smahi, A., 1 Oct 2017, In: Nature medicine. 23, 10, p. 1226-1233 8 p.

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55 Citations (Scopus)

UFM1 founder mutation in the Roma population causes recessive variant of H-ABC

Hamilton, E. M. C., Bertini, E., Kalaydjieva, L., Morar, B., Dojčáková, D., Liu, J., Vanderver, A., Curiel, J., Persoon, C. M., Diodato, D., Pinelli, L., Van Der Meij, N. L., Plecko, B., Blaser, S., Wolf, N. I., Waisfisz, Q., Abbink, T. E. M. & Van Der Knaap, M. S., 24 Oct 2017, In: Neurology. 89, 17, p. 1821-1828 8 p.

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35 Citations (Scopus)

WISExome: A within-sample comparison approach to detect copy number variations in whole exome sequencing data

Straver, R., Weiss, M. M., Waisfisz, Q., Sistermans, E. A. & Reinders, M. J. T., 1 Dec 2017, In: European journal of human genetics. 25, 12, p. 1354-1363 10 p.

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5 Citations (Scopus)

2018

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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138 Citations (Scopus)

Benign and malignant tumors in Rubinstein-Taybi syndrome

Boot, M. V., van Belzen, M. J., Overbeek, L. I., Hijmering, N., Mendeville, M., Waisfisz, Q., Wesseling, P., Hennekam, R. C. & de Jong, D., Mar 2018, In: American Journal of Medical Genetics Part A. 176, 3, p. 597-608

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Open Access

36 Citations (Scopus)

Biallelic Mutations in ADPRHL2, Encoding ADP-Ribosylhydrolase 3, Lead to a Degenerative Pediatric Stress-Induced Epileptic Ataxia Syndrome

Ghosh, S. G., Becker, K., Huang, H., Dixon-Salazar, T., Chai, G., Salpietro, V., Al-Gazali, L., Waisfisz, Q., Wang, H., Vaux, K. K., Stanley, V., Manole, A., Akpulat, U., Weiss, M. M., Efthymiou, S., Hanna, M. G., Minetti, C., Striano, P., Pisciotta, L., de Grandis, E., & 19 othersAltmüller, J., Nürnberg, P., Thiele, H., Yis, U., Okur, T. D., Polat, A. I., Amiri, N., Doosti, M., Karimani, E. G., Toosi, M. B., Haddad, G., Karakaya, M., Wirth, B., van Hagen, J. M., Wolf, N. I., Maroofian, R., Houlden, H., Cirak, S. & Gleeson, J. G., 2018, In: American journal of human genetics. 103, 3, p. 431-439

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58 Citations (Scopus)

Bi-allelic Mutations in EPRS, Encoding the Glutamyl-Prolyl-Aminoacyl-tRNA Synthetase, Cause a Hypomyelinating Leukodystrophy

Mendes, M. I., Gutierrez Salazar, M., Guerrero, K., Thiffault, I., Salomons, G. S., Gauquelin, L., Tran, L. T., Forget, D., Gauthier, M. S., Waisfisz, Q., Smith, D. E. C., Simons, C., van der Knaap, M. S., Marquardt, I., Lemes, A., Mierzewska, H., Weschke, B., Koehler, W., Coulombe, B., Wolf, N. I., & 1 othersBernard, G., 5 Apr 2018, In: American journal of human genetics. 102, 4, p. 676-684 9 p.

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56 Citations (Scopus)

Homozygous DMRT2 variant associates with severe rib malformations in a newborn

Bouman, A., Waisfisz, Q., Admiraal, J., van de Loo, M., van Rijn, R. R., Dimitra, M., Oostra, R-J., Mathijssen, I. B. & Micha, D., May 2018, In: American journal of medical genetics. Part A. 176, 5, p. 1216-1221

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15 Citations (Scopus)

Identification of rare sequence variation underlying heritable pulmonary arterial hypertension

Graf, S., Haimel, M., Bleda, M., Hadinnapola, C., Southgate, L., Li, W., Hodgson, J., Liu, B., Salmon, R. M., Southwood, M., Machado, R. D., Martin, J. M., Treacy, C. M., Yates, K., Daugherty, L. C., Shamardina, O., Whitehorn, D., Holden, S., Aldred, M., Bogaard, H. J., & 45 othersChurch, C., Coghlan, G., Condliffe, R., Corris, P. A., Danesino, C., Eyries, M., Gall, H., Ghio, S., Ghofrani, H-A., Gibbs, J. S. R., Girerd, B., Houweling, A. C., Howard, L., Humbert, M., Kiely, D. G., Kovacs, G., Ross, R. V. M., Moledina, S., Montani, D., Newnham, M., Olschewski, A., Olschewski, H., Peacock, A. J., Pepke-Zaba, J., Prokopenko, I., Rhodes, C. J., Scelsi, L., Seeger, W., Soubrier, F., Stein, D. F., Suntharalingam, J., Swietlik, E. M., Toshner, M. R., van Heel, D. A., Noordegraaf, A. V., Waisfisz, Q., Wharton, J., Wort, S. J., Ouwehand, W. H., Soranzo, N., Lawrie, A., Upton, P. D., Wilkins, M. R., Trembath, R. C. & Morrell, N. W., 12 Apr 2018, In: Nature communications. 9

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256 Citations (Scopus)

2019

Biallelic variants in LARS2 and KARS cause deafness and (ovario)leukodystrophy

Van Der Knaap, M. S., Bugiani, M., Mendes, M. I., Riley, L. G., Smith, D. E. C., Rudinger-Thirion, J., Frugier, M., Breur, M., Crawford, J., Van Gaalen, J., Schouten, M., Willems, M., Waisfisz, Q., Mau-Them, F. T., Rodenburg, R. J., Taft, R. J., Keren, B., Christodoulou, J., Depienne, C., Simons, C., & 2 othersSalomons, G. S. & Mochel, F., 12 Mar 2019, In: Neurology. 92, 11, p. E1225-E1237 13 p.

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35 Citations (Scopus)

De novo variants in PAK1 lead to intellectual disability with macrocephaly and seizures (Brain (2019))

Horn, S., Au, M., Basel-Salmon, L., Bayrak-Toydemir, P., Chapin, A., Cohen, L., Elting, M. W., Graham, J. M., Gonzaga-Jauregui, C., Konen, O., Holzer, M., Lemke, J., Miller, C. E., Rey, L. K., Wolf, N. I., Weiss, M. M., Waisfisz, Q., Mirzaa, G. M., Wieczorek, D., Sticht, H., & 1 othersJamra, R. A., 1 Nov 2019, In: Brain. 142, 11, p. 3351-3359 9 p.

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29 Citations (Scopus)

Disruptive mutations in TANC2 define a neurodevelopmental syndrome associated with psychiatric disorders

University of Washington Center for Mendelian Genomics, 1 Dec 2019, In: Nature communications. 10, 1, 4679.

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Open Access

37 Citations (Scopus)

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

Fokkema, I. F. A. C., van der Velde, K. J., Slofstra, M. K., Ruivenkamp, C. A. L., Vogel, M. J., Pfundt, R., Blok, M. J., Lekanne Deprez, R. H., Waisfisz, Q., Abbott, K. M., Sinke, R. J., Rahman, R., Nijman, I. J., de Koning, B., Thijs, G., Wieskamp, N., Moritz, R. J. G., Charbon, B., Saris, J. J., den Dunnen, J. T., & 3 othersLaros, J. F. J., Swertz, M. A. & van Gijn, M. E., 1 Dec 2019, In: Human mutation. 40, 12, p. 2230-2238 9 p.

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26 Citations (Scopus)

Genetic determinants of risk in pulmonary arterial hypertension: international genome-wide association studies and meta-analysis

UK NIHR BioResource Rare Diseases Consortium, UK PAH Cohort Study Consortium & US PAH Biobank Consortium, 1 Mar 2019, In: Lancet respiratory medicine. 7, 3, p. 227-238 12 p.

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106 Citations (Scopus)

Genetic variants in the KDM6B gene are associated with neurodevelopmental delays and dysmorphic features

Stolerman, E. S., Francisco, E., Stallworth, J. L., Jones, J. R., Monaghan, K. G., Keller-Ramey, J., Person, R., Wentzensen, I. M., McWalter, K., Keren, B., Heron, B., Nava, C., Heron, D., Kim, K., Burton, B., Al-Musafri, F., O'Grady, L., Sahai, I., Escobar, L. F., Meuwissen, M., & 11 othersReyniers, E., Kooy, F., Lacassie, Y., Gunay-Aygun, M., Schatz, K. S., Hochstenbach, R., Zwijnenburg, P. J. G., Waisfisz, Q., van Slegtenhorst, M., Mancini, G. M. S. & Louie, R. J., 1 Jul 2019, In: American Journal of Medical Genetics, Part A. 179, 7, p. 1276-1286

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30 Citations (Scopus)

Periodontal Ehlers–Danlos syndrome is associated with leukoencephalopathy

Kapferer-Seebacher, I., Waisfisz, Q., Boesch, S., Bronk, M., van Tintelen, P., Gizewski, E. R., Groebner, R., Zschocke, J. & van der Knaap, M. S., 2 Mar 2019, In: Neurogenetics. 20, 1, p. 1-8 8 p.

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17 Citations (Scopus)

2020

Clonality, antigen recognition, and suppression of CD8⁺ T cells differentially affect prognosis of breast cancer subtypes

Hammerl, D., Massink, M. P. G., Smid, M., van Deurzen, C. H. M., Meijers-Heijboer, H. E. J., Waisfisz, Q., Debets, R. & Martens, J. W. M., 15 Jan 2020, In: Clinical Cancer Research. 26, 2, p. 505-517 13 p.

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26 Citations (Scopus)

Quinten Waisfisz

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