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Research Output 1998 2019

  • 77 Article
  • 1 Inaugural speech
  • 1 Comment/Letter to the editor
  • 1 Doctoral Thesis
2019

Blurring boundaries. Interviews with PGT couples about comprehensive chromosome screening

Hens, K., Bonduelle, M., de Die-Smulders, C. & Liebaers, I., Dec 2019, In : European Journal of Medical Genetics. 62, 12, 7 p., 103604.

Research output: Contribution to journalArticleAcademicpeer-review

Effect of Plasmapheresis on Cholestatic Pruritus and Autotaxin Activity During Pregnancy

Heerkens, M., Dedden, S., Scheepers, H., Van Paassen, P., Masclee, A., de Die-Smulders, C., Olde Damink, S. W. M., Schaap, F. G., Jansen, P., Koek, G., Beuers, U. & Verbeek, J., Jun 2019, In : Hepatology. 69, 6, p. 2707-2710 4 p.

Research output: Contribution to journalArticleAcademicpeer-review

Open Access

Growth, health, and motor development of 5-year-old children born after preimplantation genetic diagnosis

Heijligers, M., Peeters, A., van Montfoort, A., Nijsten, J., Janssen, E., Gunnewiek, F. K., de Rooy, R., van Golde, R., Coonen, E., Meijer-Hoogeveen, M., Broekmans, F., van der Hoeven, M., Arens, Y. & de Die-Smulders, C., Jun 2019, In : Fertility and Sterility. 111, 6, p. 1151-1158 8 p.

Research output: Contribution to journalArticleAcademicpeer-review

Multi-centre evaluation of a comprehensive preimplantation genetic test through haplotyping-by-sequencing

Masset, H., Esteki, M. Z., Dimitriadou, E., Dreesen, J., Debrock, S., Derhaag, J., Derks, K., Destouni, A., Drusedau, M., Meekels, J., Melotte, C., Peeraer, K., Tsuiko, O., van Uum, C., Allemeersch, J., Devogelaere, B., Francois, K. O., Happe, S., Lorson, D., Richards, R. L. & 7 others, Theuns, J., Brunner, H., de Die-Smulders, C., Voet, T., Paulussen, A., Coonen, E. & Vermeesch, J. R., Aug 2019, In : Human Reproduction. 34, 8, p. 1608-1619 12 p.

Research output: Contribution to journalArticleAcademicpeer-review

New insights into minor splicing-a transcriptomic analysis of cells derived from TALS patients

Cologne, A., Benoit-Pilven, C., Besson, A., Putoux, A., Campan-Fournier, A., Bober, M. B., De Die-Smulders, C. E. M., PAULUSSEN, A. D. C., Pinson, L., Toutain, A., Roifman, C. M., Leutenegger, A-L., Mazoyer, S., Edery, P. & Lacroix, V., Sep 2019, In : Rna-A Publication of the Rna Society. 25, 9, p. 1130-1149 20 p.

Research output: Contribution to journalArticleAcademicpeer-review

Open Access

Online decision support for persons having a genetic predisposition to cancer and their partners during reproductive decision-making

Reumkens, K., Tummers, M. H. E., Gietel-Habets, J. J. G., van Kuijk, S. M. J., Aalfs, C. M., van Asperen, C. J., Ausems, M. G. E. M., Collee, M., Dommering, C. J., Kets, C. M., van der Kolk, L. E., Oosterwijk, J. C., Tjan-Heijnen, V. C. G., van der Weijden, T., de Die-Smulders, C. E. M. & van Osch, L. A. D. M., Jun 2019, In : Journal of Genetic Counseling. 28, 3, p. 533-542 10 p.

Research output: Contribution to journalArticleAcademicpeer-review

Open Access

Risk Assessment for Huntington's Disease for (Future) Offspring Requires Offering Preconceptional CAG Analysis to Both Partners

Tibben, A., Dondorp, W. J., de Wert, G. M., de Die-Smulders, C. E., Losekoot, M. & Bijlsma, E. K., 2019, In : Journal of Huntington's disease. 8, 1, p. 71-78 8 p.

Research output: Contribution to journalArticleAcademicpeer-review

The development of an online decision aid to support persons having a genetic predisposition to cancer and their partners during reproductive decision-making: a usability and pilot study

Reumkens, K., Tummers, M. H. E., Gietel-Habets, J. J. G., van Kuijk, S. M. J., Aalfs, C. M., van Asperen, C. J., Ausems, M. G. E. M., Collee, M., Dommering, C. J., Kets, C. M., van der Kolk, L. E., Oosterwijk, J. C., Tjan-Heijnen, V. C. G., van der Weijden, T., de Die-Smulders, C. E. M. & van Osch, L. A. D. M., Jan 2019, In : Familial Cancer. 18, 1, p. 137-146 10 p.

Research output: Contribution to journalArticleAcademicpeer-review

Open Access
2018

Biallelic B3GALT6 mutations cause spondylodysplastic Ehlers-Danlos syndrome

Van Damme, T., Pang, X., Guillemyn, B., Gulberti, S., Syx, D., De Rycke, R., Kaye, O., de Die-Smulders, C. E. M., Pfundt, R., Kariminejad, A., Nampoothiri, S., Pierquin, G., Bulk, S., Larson, A. A., Chatfield, K. C., Simon, M., Legrand, A., Gerard, M., Symoens, S., Fournel-Gigleux, S. & 1 others, Malfait, F., 15 Oct 2018, In : Human Molecular Genetics. 27, 20, p. 3475-3487 13 p.

Research output: Contribution to journalArticleAcademicpeer-review

Mutation-specific effects in germline transmission of pathogenic mtDNA variants

Otten, A. B. C., Sallevelt, S. C. E. H., Carling, P. J., Dreesen, J. C. F. M., Drusedau, M., Spierts, S., Paulussen, A. D. C., de Die-Smulders, C. E. M., Herbert, M., Chinnery, P. F., Samuels, D. C., Lindsey, P. & Smeets, H. J. M., 1 Jul 2018, In : Human Reproduction. 33, 7, p. 1331-1341 11 p.

Research output: Contribution to journalArticleAcademicpeer-review

Ovarian stimulation for IVF and risk of primary breast cancer in BRCA1/2 mutation carriers

Derks-Smeets, I. A. P., Schrijver, L. H., de Die-Smulders, C. E. M., Tjan-Heijnen, V. C. G., van Golde, R. J. T., Smits, L. J., Caanen, B., van Asperen, C. J., Ausems, M., Collee, M., van Engelen, K., Kets, C. M., van der Kolk, L., Oosterwijk, J. C., van Os, T. A. M., Rookus, M. A., van Leeuwen, F. E. & Garcia, E. B., 1 Aug 2018, In : British Journal of Cancer. 119, 3, p. 357-363 7 p.

Research output: Contribution to journalArticleAcademicpeer-review

Perinatal follow-up of children born after preimplantation genetic diagnosis between 1995 and 2014

Heijligers, M., Van Montfoort, A., Meijer-Hoogeveen, M., Broekmans, F., Bouman, K., Homminga, I., Dreesen, J., Paulussen, A., Engelen, J., Coonen, E., Van der Schoot, V., van Deursen-Luijten, M., Muntjewerff, N., Peeters, A., van Golde, R., van der Hoeven, M., Arens, Y. & de Die-Smulders, C., Nov 2018, In : Journal of Assisted Reproduction and Genetics. 35, 11, p. 1995-2002 8 p.

Research output: Contribution to journalArticleAcademicpeer-review

Open Access

Predictive testing of minors for Huntington's disease: The UK and Netherlands experiences

Quarrell, O. W., Clarke, A. J., Compton, C., de Die-Smulders, C. E. M., Fryer, A., Jenkins, S., Lahiri, N., MacLeod, R., Miedzybrodzka, Z., Morrison, P. J., Musgrave, H., O'Driscoll, M., Strong, M., van Belzen, M. J., Vermeer, S., Verschuuren-Bemelmans, C. C. & Bijlsma, E. K., 1 Jan 2018, In : American Journal of Medical Genetics Part B-neuropsychiatric Genetics. 177, 1, p. 35-39 5 p.

Research output: Contribution to journalArticleAcademicpeer-review

Professionals' knowledge, attitude and referral behaviour of preimplantation genetic diagnosis for hereditary breast and ovarian cancer

Gietel-Habets, J. J. G., de Die-Smulders, C. E. M., Tjan-Heijnen, V. C. G., Derks-Smeets, I. A. P., van Golde, R., Gomez-Garcia, E. & van Osch, L. A. D. M., 1 Feb 2018, In : Reproductive Biomedicine Online. 36, 2, p. 137-144 8 p.

Research output: Contribution to journalArticleAcademicpeer-review

Reproductive Decision Support: Preferences and Needs of Couples at Risk for Hereditary Cancer and Clinical Geneticists

Reumkens, K., van Oudheusden, A. J. G., Gietel-Habets, J. J. G., Tummers, M. H. E., de Die-Smulders, C. E. M. & van Osch, L. A. D. M., 1 Aug 2018, In : Journal of Genetic Counseling. 27, 4, p. 920-926 7 p.

Research output: Contribution to journalArticleAcademicpeer-review

Open Access

Support needs of couples with hereditary breast and ovarian cancer during reproductive decision making

Gietel-Habets, J. J. G., de Die-Smulders, C. E. M., Derks-Smeets, I. A. P., Tibben, A., Tjan-Heijnen, V. C. G., van Golde, R., Gomez-Garcia, E. & van Osch, L. A. D. M., 1 Jul 2018, In : Psycho-Oncology. 27, 7, p. 1795-1801 7 p.

Research output: Contribution to journalArticleAcademicpeer-review

The cognitive and socio-emotional development of 5-year-old children born after PGD

Heijligers, M., Verheijden, L. M. M., Jonkman, L. M., van der Sangen, M., Meijer-Hoogeveen, M., Arens, Y., van der Hoeven, M. A. & de Die-Smulders, C. E. M., Nov 2018, In : Human Reproduction. 33, 11, p. 2150–2157 8 p.

Research output: Contribution to journalArticleAcademicpeer-review

2017
Open Access

Awareness and attitude regarding reproductive options of persons carrying a BRCA mutation and their partners

Gietel-Habets, J. J. G., de Die-Smulders, C. E. M., Derks-Smeets, I. A. P., Tibben, A., Tjan-Heijnen, V. C. G., van Golde, R., Gomez-Garcia, E., Kets, C. M. & van Osch, L. A. D. M., Mar 2017, In : Human Reproduction. 32, 3, p. 588-597 10 p.

Research output: Contribution to journalArticleAcademicpeer-review

BRCA1 mutation carriers have a lower number of mature oocytes after ovarian stimulation for IVF/PGD

Derks-Smeets, I. A. P., van Tilborg, T. C., van Montfoort, A., Smits, L., Torrance, H. L., Meijer-Hoogeveen, M., Broekmans, F., Dreesen, J. C. F. M., Paulussen, A. D. C., Tjan-Heijnen, V. C. G., Homminga, I., van den Berg, M. M. J., Ausems, M. G. E. M., de Rycke, M., de Die-Smulders, C. E. M., Verpoest, W. & van Golde, R., Nov 2017, In : Journal of Assisted Reproduction and Genetics. 34, 11, p. 1475-1482 8 p.

Research output: Contribution to journalArticleAcademicpeer-review

Open Access

Delusional and Psychotic Disorders in Juvenile Myotonic Dystrophy Type-1

Jacobs, D., Willekens, D., de Die-Smulders, C., Frijns, J-P. & Steyaert, J., Jun 2017, In : American Journal of Medical Genetics Part B-neuropsychiatric Genetics. 174, 4, p. 359-366 8 p.

Research output: Contribution to journalArticleAcademicpeer-review

De novo mtDNA point mutations are common and have a low recurrence risk

Sallevelt, S. C. E. H., de Die-Smulders, C. E. M., Hendrickx, A. T. M., Hellebrekers, D. M. E. I., de Coo, I. F. M., Alston, C. L., Knowles, C., Taylor, R. W., McFarland, R. & Smeets, H. J. M., Feb 2017, In : Journal of Medical Genetics. 54, 2, p. 114-124 11 p.

Research output: Contribution to journalArticleAcademicpeer-review

Open Access

PGD for the m.14487 T>C mitochondrial DNA mutation resulted in the birth of a healthy boy

Sallevelt, S. C. E. H., Dreesen, J. C. F. M., Druesedau, M., Hellebrekers, D. M. E. I., Paulussen, A. D. C., Coonen, E., Van Golde, R. J. T., Geraedts, J. P. M., Gianaroli, L., Magli, M. C., Zeviani, M., Smeets, H. J. M. & de Die-Smulders, C. E. M., Mar 2017, In : Human Reproduction. 32, 3, p. 698-703 6 p.

Research output: Contribution to journalArticleAcademicpeer-review

Uptake of prenatal diagnostic testing for retinoblastoma compared to other hereditary cancer syndromes in the Netherlands

Dommering, C. J., Henneman, L., van der Hout, A. H., Jonker, M. A., Tops, C. M. J., van den Ouweland, A. M. W., van der Luijt, R. B., Mensenkamp, A. R., Hogervorst, F. B. L., Redeker, E. J. W., de Die-Smulders, C. E. M., Moll, A. C. & Meijers-Heijboer, H., Apr 2017, In : Familial Cancer. 16, 2, p. 271-277 7 p.

Research output: Contribution to journalArticleAcademicpeer-review

Open Access
2016

Präimplantationsdiagnostik in den Niederlanden

Geraedts, J., Coonen, E., Dreesen, J., Paulussen, A. & de Die-Smulders, C., Dec 2016, In : Medizinische Genetik. 28, 3, p. 310–319 9 p.

Research output: Contribution to journalArticleAcademicpeer-review

Open Access

Refining the phenotypical and mutational spectrum of Taybi-Linder syndrome

Putoux, A., Alqahtani, A., Pinson, L., Paulussen, A. D. C., Michel, J., Besson, A., Mazoyer, S., Borg, I., Nampoothiri, S., Vasiljevic, A., Uwineza, A., Boggio, D., Champion, F., de Die-Smulders, C. E., Gardeitchik, T., van Putten, W. K., Perez, M. J., Musizzano, Y., Razavi, F., Drunat, S. & 7 others, Verloes, A., Hennekam, R., Guibaud, L., Alix, E., Sanlaville, D., Lesca, G. & Edery, P., Dec 2016, In : Clinical Genetics. 90, 6, p. 550-555

Research output: Contribution to journalArticleAcademicpeer-review

Serum AMH levels in healthy women from BRCA1/2 mutated families: are they reduced?

van Tilborg, T. C., Derks-Smeets, I. A. P., Bos, A. M. E., Oosterwijk, J. C., van Golde, R. J., Smulders - de Die, C., van der Kolk, L. E., van Zelst-Stams, W. A. G., Velthuizen, M. E., Hoek, A., Eijkemans, M. J. C., Laven, J. S. E., Ausems, M. G. E. M. & Broekmans, F. J. M., Nov 2016, In : Human Reproduction. 31, 11, p. 2651-2659

Research output: Contribution to journalArticleAcademicpeer-review

2015
3 Citations (Scopus)
5 Citations (Scopus)

Phenotypic and molecular insights into CASK-related disorders in males

Moog, U., Bierhals, T., Brand, K., Bautsch, J., Biskup, S., Brune, T., Denecke, J., de Die-Smulders, C. E., Evers, C., Hempel, M., Henneke, M., Yntema, H., Menten, B., Pietz, J., Pfundt, R., Schmidtke, J., Steinemann, D., Stumpel, C. T., Van Maldergem, L. & Kutsche, K., 12 Apr 2015, In : Orphanet Journal of Rare Diseases. 10, 44.

Research output: Contribution to journalArticleAcademicpeer-review

2 Citations (Scopus)

Preventing the transmission of mitochondrial DNA disorders using prenatal or preimplantation genetic diagnosis

Smeets, H. J. M., Sallevelt, S. C. E. H., Dreesen, J. C. F. M., de Die-Smulders, C. E. M. & de Coo, I. F. M., 2015, In : Annals of the New York Academy of Sciences. 1350, p. 29-36

Research output: Contribution to journalArticleAcademicpeer-review

3 Citations (Scopus)

Recurrent miscarriage in translocation carriers: no differences in clinical characteristics between couples who accept and couples who decline PGD

De Krom, G., Arens, Y. H. J. M., Coonen, E., Van Ravenswaaij-Arts, C. M. A., Meijer-Hoogeveen, M., Evers, J. L. H., Van Golde, R. J. T. & De Die-Smulders, C. E. M., Feb 2015, In : Human Reproduction. 30, 2, p. 484-489

Research output: Contribution to journalArticleAcademicpeer-review

2014
12 Citations (Scopus)

An FBN1 Deep Intronic Mutation in a Familial Case of Marfan Syndrome: An Explanation for Genetically Unsolved Cases?

Gillis, E., Kempers, M., Salemink, S., Timmermans, J., Cheriex, E. C., Bekkers, S. C. A. M., Fransen, E., De Die-Smulders, C. E. M., Loeys, B. L. & Van Laer, L., May 2014, In : Human Mutation. 35, 5, p. 571-574

Research output: Contribution to journalArticleAcademicpeer-review

12 Citations (Scopus)

Decision-making on preimplantation genetic diagnosis and prenatal diagnosis: a challenge for couples with hereditary breast and ovarian cancer

Derks-Smeets, I. A. P., Gietel-Habets, J. J. G., Tibben, A., Tjan-Heijnen, V. C. G., Meijer-Hoogeveen, M., Geraedts, J. P. M., van Golde, R., Gomez-Garcia, E., van den Bogaart, E., van Hooijdonk, M., de Die-Smulders, C. E. M. & van Osch, L. A. D. M., May 2014, In : Human Reproduction. 29, 5, p. 1103-1112 10 p.

Research output: Contribution to journalArticleAcademicpeer-review

5 Citations (Scopus)

Evidence for Increased SOX3 Dosage as a Risk Factor for X-Linked Hypopituitarism and Neural Tube Defects

Bauters, M., Frints, S. G., Van Esch, H., Spruijt, L., Baldewijns, M. M., de Die-Smulders, C. E. M., Fryns, J-P., Marynen, P. & Froyen, G., Aug 2014, In : American Journal of Medical Genetics Part A. 164, 8, p. 1947-1952

Research output: Contribution to journalArticleAcademicpeer-review

4 Citations (Scopus)
199 Downloads (Pure)

Hereditary breast and ovarian cancer and reproduction: an observational study on the suitability of preimplantation genetic diagnosis for both asymptomatic carriers and breast cancer survivors

Derks - Smeets, I. A. P., de Die-Smulders, C. E. M., Mackens, S., van Golde, R., Paulussen, A. D., Dreesen, J., Tournaye, H., Verdyck, P., Tjan-Heijnen, V. C. G., Meijer-Hoogeveen, M., de Greve, J., Geraedts, J., de Rycke, M., Bonduelle, M. & Verpoest, W. M., Jun 2014, In : Breast Cancer Research and Treatment. 145, 3, p. 673-681 9 p.

Research output: Contribution to journalArticleAcademicpeer-review

Open Access
File
14 Citations (Scopus)

Microarrays as a diagnostic tool in prenatal screening strategies: ethical reflection

de Jong, A., Dondorp, W. J., Macville, M. V. E., de Die-Smulders, C. E. M., van Lith, J. M. M. & de Wert, G. M. W. R., 1 Jan 2014, In : Human Genetics. 133, 2, p. 163-172

Research output: Contribution to journalArticleAcademicpeer-review

3 Citations (Scopus)

Prenatal testing for Huntington's disease in the Netherlands from 1998 to 2008

van Rij, M. C., Gans, P. A. M. D. K., Aalfs, C. M., Elting, M., Ippel, P. F., Maat-Kievit, J. A., Vermeer, S., Verschuuren-Bemelmans, C. C., van Belzen, M. J., Belfroid, R. D. M., Losekoot, M., Geraedts, J. P. M., Roos, R. A. C., Tibben, A., de Die-Smulders, C. E. M. & Bijlsma, E. K., Jan 2014, In : Clinical Genetics. 85, 1, p. 78-86

Research output: Contribution to journalArticleAcademicpeer-review

5 Citations (Scopus)

The uptake and outcome of prenatal and pre-implantation genetic diagnosis for Huntington's disease in the Netherlands (1998-2008)

van Rij, M. C., Gans, P. A. M. D. K., van Belzen, M. J., Roos, R. A. C., Geraedts, J. P. M., De Rademaeker, M., Bijlsma, E. K. & de Die-Smulders, C. E. M., Jan 2014, In : Clinical Genetics. 85, 1, p. 87-95

Research output: Contribution to journalArticleAcademicpeer-review

2013
32 Citations (Scopus)

Brain white matter oedema due to ClC-2 chloride channel deficiency: an observational analytical study

Depienne, C., Bugiani, M., Dupuits, C., Galanaud, D., Touitou, V., Postma, N., van Berkel, C., Polder, E., Tollard, E., Darios, F., Brice, A., de Die-Smulders, C. E., Vles, J. S., Vanderver, A., Uziel, G., Yalcinkaya, C., Frints, S. G., Kalscheuer, V. M., Klooster, J., Kamermans, M. & 4 others, Abbink, T. E. M., Wolf, N. I., Sedel, F. & van der Knaap, M. S., Jul 2013, In : Lancet Neurology. 12, 7, p. 659-668

Research output: Contribution to journalArticleAcademicpeer-review

Evaluation of exclusion prenatal and exclusion preimplantation genetic diagnosis for Huntington's disease in the Netherlands

van Rij, M. C., de Die-Smulders, C. E. M., Bijlsma, E. K., de Wert, G. M. W. R., Geraedts, J. P., Roos, R. A. C. & Tibben, A., Feb 2013, In : Clinical Genetics. 83, 2, p. 118-124

Research output: Contribution to journalArticleAcademicpeer-review

8 Citations (Scopus)

PGD for hereditary breast and ovarian cancer: the route to universal tests for BRCA1 and BRCA2 mutation carriers

Drusedau, M., Dreesen, J. C., Derks-Smeets, I., Coonen, E., van Golde, R., van Echten-Arends, J., Kastrop, P. M. M., Blok, M. J., Gomez-Garcia, E., Geraedts, J. P., Smeets, H. J., de Die-Smulders, C. E. & Paulussen, A. D., Dec 2013, In : European Journal of Human Genetics. 21, 12, p. 1361-1368

Research output: Contribution to journalArticleAcademicpeer-review

PLS3 Mutations in X-Linked Osteoporosis with Fractures

van Dijk, F. S., Zillikens, M. C., Micha, D., Riessland, M., Marcelis, C. L. M., Smulders - de Die, C., 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 others, Klein-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., 17 Oct 2013, In : New England Journal of Medicine. 369, 16, p. 1529-1536

Research output: Contribution to journalArticleAcademicpeer-review

458 Downloads (Pure)

Preïmplantatie Genetische Diagnostiek: ongekende mogelijkheden

de Die-Smulders, C. E. M., 6 Sep 2013, Maastricht: Maastricht University.

Research output: Book/ReportInaugural speechPopular

Open Access
File
28 Citations (Scopus)

Preimplantation genetic diagnosis in mitochondrial DNA disorders: challenge and success

Sallevelt, S. C. E. H., Dreesen, J. C. F. M., Drüsedau, M., Spierts, S., Coonen, E., van Tienen, F. H. J., van Golde, R. J. T., de Coo, I. F. M., Geraedts, J. P. M., de Die-Smulders, C. E. M. & Smeets, H. J. M., Feb 2013, In : Journal of Medical Genetics. 50, 2, p. 125-132 8 p.

Research output: Contribution to journalArticleAcademicpeer-review

Recommendations for the predictive genetic test in Huntington's disease

de Die, C. E. M., Mar 2013, In : Clinical Genetics. 83, 3, p. 221-231

Research output: Contribution to journalArticleAcademicpeer-review