PRDM10 directs FLCN expression in a novel disorder overlapping with Birt-Hogg-Dubé syndrome and familial lipomatosis

van de Beek, I., Glykofridis, I. E., Oosterwijk, J. C., van den Akker, P. C., Diercks, G. F. H., Bolling, M. C., Waisfisz, Q., Mensenkamp, A. R., Balk, J. A., Zwart, R., Postma, A. V., Meijers-Heijboer, H. E. J., van Moorselaar, R. J. A., Wolthuis, R. M. F. & Houweling, A. C., 1-apr.-2023, In: Human Molecular Genetics. 32, 7, blz. 1223-1235 13 blz.

Onderzoeksoutput › Academic › peer review

Rapid exome sequencing as a first-tier test in neonates with suspected genetic disorder: results of a prospective multicenter clinical utility study in the Netherlands

on behalf of RADICON-NL consortium, Olde Keizer, R. A. C. M., Marouane, A., Kerstjens-Frederikse, W. S., Deden, A. C., Lichtenbelt, K. D., Jonckers, T., Vervoorn, M., Vreeburg, M., Henneman, L., de Vries, L. S., Sinke, R. J., Pfundt, R., Stevens, S. J. C., Andriessen, P., van Lingen, R. A., Nelen, M., Scheffer, H., Stemkens, D., Oosterwijk, C., & 5 anderenvan Amstel, H. K. P., de Boode, W. P., van Zelst-Stams, W. A. G., Frederix, G. W. J. & Vissers, L. E. L. M., jun.-2023, In: European Journal of Pediatrics. 182, 6, blz. 2683-2692 10 blz.

Onderzoeksoutput › Academic › peer review

Breast cancer risks associated with missense variants in breast cancer susceptibility genes

NBCS Collaborators, Dorling, L., Carvalho, S., Allen, J., Parsons, M. T., Fortuno, C., González-Neira, A., Heijl, S. M., Adank, M. A., Ahearn, T. U., Andrulis, I. L., Auvinen, P., Becher, H., Beckmann, M. W., Behrens, S., Bermisheva, M., Bogdanova, N. V., Bojesen, S. E., Bolla, M. K., Bremer, M., & 32 anderenBriceno, I., Camp, N. J., Campbell, A., Castelao, J. E., Chang-Claude, J., Chanock, S. J., Chenevix-Trench, G., Collée, J. M., Czene, K., Dennis, J., Dörk, T., Eriksson, M., Evans, D. G., Fasching, P. A., Figueroa, J., Flyger, H., Gabrielson, M., Gago-Dominguez, M., García-Closas, M., Giles, G. G., Glendon, G., Guénel, P., Gündert, M., Hadjisavvas, A., Hahnen, E., Hall, P., Hamann, U., Harkness, E. F., Hartman, M., Hogervorst, F. B. L., Oosterwijk, J. C. & Easton, D. F., 18-mei-2022, In: Genome medicine. 14, 17 blz., 51.

Onderzoeksoutput › Academic › peer review

A case-only study to identify genetic modifiers of breast cancer risk for BRCA1/BRCA2 mutation carriers

GEMO Study Collaborators, EMBRACE Collaborators, kConFab Investigators, HEBON Investigators & ABCTB Investigators, dec.-2021, In: Nature Communications. 12, 22 blz., 1078.

Onderzoeksoutput › Academic › peer review

Breast Cancer Risk Genes — Association Analysis in More than 113,000 Women

Breast Cancer Association Consortium, 4-feb.-2021, In: New England Journal of Medicine. 384, 5, blz. 428-439 12 blz.

Onderzoeksoutput › Academic › peer review