Quinten Waisfisz

DR.

19982018
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Research Output 1998 2018

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

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

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

Research output: Contribution to journalArticleAcademicpeer-review

Open Access

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

Mendes, M. I., Salazar, M. G., 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

Research output: Contribution to journalArticleAcademicpeer-review

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

UK NIHR BioResource Rare Diseases Consortium, 5 Dec 2018, In : Lancet respiratory medicine.

Research output: Contribution to journalArticleAcademicpeer-review