Personal profile
Biography
Main areas of expertise:
Cancer genetics in general.
Inheritance of benign haematological disorders and haematological cancer.
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Managing women-specific bleeding in inherited bleeding disorders: A multidisciplinary approach
Mauser-Bunschoten, E. P., Kadir, R. A., Laan, E. T. M., Elfvinge, P., Haverman, L., Teela, L., Degenaar, M. E. L., Fransen van de Putte, D. E., D'Oiron, R. & van Galen, K. P. M., May 2021, In: Haemophilia. 27, 3, p. 463-469 7 p.Research output: Contribution to journal › Article › Academic › peer-review
Open AccessFile3 Downloads (Pure) -
Correction: Putting genome-wide sequencing in neonates into perspective
van der Sluijs, P. J., Aten, E., Barge-Schaapveld, D. Q. C. M., Bijlsma, E. K., Bökenkamp-Gramann, R., Kaat, L. D., van Doorn, R., van de Putte, D. F., van Haeringen, A., ten Harkel, A. D. J., Hilhorst-Hofstee, Y., Hoffer, M. J. V., den Hollander, N. S., van Ierland, Y., Koopmans, M., Kriek, M., Moghadasi, S., Nibbeling, E. A. R., Peeters-Scholte, C. M. P. C. D. & Potjer, T. P. & 12 others, , 1 Sept 2019, In: Genetics in Medicine. 21, 9, p. 2159-2164 6 p.Research output: Contribution to journal › Comment/Letter to the editor › Academic › peer-review
Open AccessFile3 Downloads (Pure) -
Putting genome-wide sequencing in neonates into perspective
van der Sluijs, P. J., Aten, E., Barge-Schaapveld, D. Q. C. M., Bijlsma, E. K., Bökenkamp-Gramann, R., Donker Kaat, L., van Doorn, R., van de Putte, D. F., van Haeringen, A., ten Harkel, A. D. J., Hilhorst-Hofstee, Y., Hoffer, M. J. V., den Hollander, N. S., van Ierland, Y., Koopmans, M., Kriek, M., Moghadasi, S., Nibbeling, E. A. R., Peeters-Scholte, C. M. P. C. D. & Potjer, T. P. & 12 others, , 1 May 2019, In: Genetics in Medicine. 21, 5, p. 1074-1082 9 p.Research output: Contribution to journal › Article › Academic › peer-review
1 Citation (Scopus) -
A Recurrent De Novo PACS2 Heterozygous Missense Variant Causes Neonatal-Onset Developmental Epileptic Encephalopathy, Facial Dysmorphism, and Cerebellar Dysgenesis
Olson, H. E., Jean-Marçais, N., Yang, E., Heron, D., Tatton-Brown, K., van der Zwaag, P. A., Bijlsma, E. K., Krock, B. L., Backer, E., Kamsteeg, E.-J., Sinnema, M., Reijnders, M. R. F., Bearden, D., Begtrup, A., Telegrafi, A., Lunsing, R. J., Burglen, L., Lesca, G., Cho, M. T. & Smith, L. A. & 31 others, , 2018, In: American Journal of Human Genetics. 102, 5, p. 995-1007 13 p.Research output: Contribution to journal › Article › Academic › peer-review
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Erratum: A Recurrent De Novo PACS2 Heterozygous Missense Variant Causes Neonatal-Onset Developmental Epileptic Encephalopathy, Facial Dysmorphism, and Cerebellar Dysgenesis (The American Journal of Human Genetics (2018) 102(5) (995–1007), (S0002929718300946) (10.1016/j.ajhg.2018.03.005))
DDD Study & C4RCD Research Group, 4 Oct 2018, In: American Journal of Human Genetics. 103, 4, 1 p.Research output: Contribution to journal › Comment/Letter to the editor › Academic › peer-review
Activities
- 1 Other
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Richtlijn Diagnostiek en behandeling van hemofilie 2020
Fransen van de Putte, D. (Speaker)
2017 → 2020Activity: Other