Quinten Waisfisz

DR.

19982019
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Research Output 1998 2019

  • 93 Article
  • 14 Meeting Abstract
  • 5 Research VU University Amsterdam, graduation VU University Amsterdam
  • 2 Letter

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

Research output: Contribution to journalArticleAcademicpeer-review

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

Research output: Contribution to journalArticleAcademicpeer-review

Open Access

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

Research output: Contribution to journalArticleAcademicpeer-review

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

BCAC, Jul 2018, In : Nature Genetics. 50, 7, p. 968-+

Research output: Contribution to journalArticleAcademicpeer-review

Open Access

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

Research output: Contribution to journalArticleAcademicpeer-review

Open Access