1986 …2020

Research output per year

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Research Output

2020

A new decade of community genetics: old and new challenges

Schmidtke, J. & Cornel, M. C., 1 Jan 2020, In : Journal of Community Genetics. 11, 1

Research output: Contribution to journalEditorialAcademic

Open Access

Contentious ethical issues in community genetics: let’s talk about them

Schmidtke, J. & Cornel, M. C., 1 Jan 2020, In : Journal of Community Genetics. 11, 1, p. 5-6 2 p.

Research output: Contribution to journalEditorialAcademic

Open Access

DPD testing before treatment with fluoropyrimidines in the Amsterdam UMCs: An evaluation of current pharmacogenetic practice

Martens, F. K., Huntjens, D. W., Rigter, T., Bartels, M., Bet, P. M. & Cornel, M. C., 1 Jan 2020, In : Frontiers in Pharmacology. 10, 1609.

Research output: Contribution to journalArticleAcademicpeer-review

Open Access

ESHG PPPC Comments on postmortem use of genetic data for research purposes

Fellmann, F., Rial-Sebbag, E., Patch, C., Hentze, S., Stefandottir, V., Mendes, A., van El, C. G., Cornel, M., Forzano, F., Clarke, A., Cordier, C., Cornel, M., van El, C. G., Howard, H., Kayserili, H., Melegh, B., Perola, M., Radojkovic, D. & de Wert, G., Feb 2020, In : European Journal of Human Genetics. 28, 2, p. 144-146 3 p.

Research output: Contribution to journalArticleAcademicpeer-review

Open Access

How to Integrate Personalized Medicine into Prevention? Recommendations from the Personalized Prevention of Chronic Diseases (PRECeDI) Consortium

Boccia, S., Pastorino, R., Ricciardi, W., Ádány, R. Z., Barnhoorn, F., Boffetta, P., Cornel, M. C., de Vito, C., Gray, M., Jani, A., Lang, M., Roldan, J., Rosso, A., Sánchez, J. M., van Dujin, C. M., van el, C. G., Villari, P. & Zawati, MN. H., 1 Feb 2020, In : Public Health Genomics. 22, 5-6, p. 208-214 7 p.

Research output: Contribution to journalArticleAcademicpeer-review

Implementation of Pharmacogenetics in Primary Care: A Multi-Stakeholder Perspective

Rigter, T., Jansen, M. E., Groot, J. M. D., Janssen, S. W. J., Rodenburg, W. & Cornel, M. C., 31 Jan 2020, In : Frontiers in Genetics. 11, 10.

Research output: Contribution to journalArticleAcademicpeer-review

Open Access

International perspectives on the implementation of reproductive carrier screening

Delatycki, M. B., Alkuraya, F., Archibald, A., Castellani, C., Cornel, M., Grody, W. W., Henneman, L., Ioannides, A. S., Kirk, E., Laing, N., Lucassen, A., Massie, J., Schuurmans, J., Thong, M-K., van Langen, I. & Zlotogora, J., 1 Feb 2020, In : Prenatal Diagnosis. 40, 3, p. 301-310 10 p.

Research output: Contribution to journalReview articleAcademicpeer-review

Kiembaanmodificatie: waarom mag het niet?

Cornel, M. C. & Smalbrugge, M., 1 Jan 2020, In : Nederlands Tijdschrift voor Geneeskunde. 164, 1

Research output: Contribution to journalArticleProfessional

Opsporing en behandeling van erfelijk hoog cholesterol Hoe eerder, hoe beter?!

Translated title of the contribution: Detection and treatment of familial hypercholesterolemia: The earlier, the better?Kusters, D. M., Hutten, B. A., Wiegman, A. & Cornel, M. C., May 2020, In : Nederlands Tijdschrift voor Geneeskunde. 164, 22, A22.

Research output: Contribution to journalComment/Letter to the editorProfessional

Systematic scoping review of the concept of 'genetic identity' and its relevance for germline modification

Goekoop, F. M., Van El, C. G., Widdershoven, G. A. M., Dzinalija, N., Cornel, M. C. & Evans, N., 1 Jan 2020, In : PLoS ONE. 15, 1, e0228263.

Research output: Contribution to journalArticleAcademicpeer-review

Open Access
2019

Commercieel aanbod van DNA-tests: Ruim baan voor vrije markt en zelfbeschikking?

Translated title of the contribution: Commercial offer of DNA-tests: Allow freedom for the market and autonomy?Cornel, MC., Ploem, C. & Gevers, J. K. M., 27 Sep 2019, In : Nederlands Juristenblad. 32, p. 2364-2371 8 p.

Research output: Contribution to journalArticleProfessional

Correction: The Gen-Equip Project: evaluation and impact of genetics e-learning resources for primary care in six European languages (Genetics in Medicine, (2019), 21, 3, (718-726), 10.1038/s41436-018-0132-3)

Jackson, L., O’Connor, A., Paneque, M., Curtisova, V., Lunt, P. W., Pourova, R. K., MacekJr, M., Stefansdottir, V., Turchetti, D., Campos, M., Henneman, L., Godino, L., Skirton, H. & Cornel, M. C., 1 Jul 2019, In : Genetics in Medicine. 21, 7, p. 1669-1669 1 p.

Research output: Contribution to journalErratumAcademicpeer-review

Open Access

Direct-to-consumer carrier screening for cystic fibrosis via a hospital website: a 6-year evaluation

Holtkamp, K. C. A., Henneman, L., Gille, J. J. P., Meijers-Heijboer, H., Cornel, M. C. & Lakeman, P., 4 Apr 2019, In : Journal of Community Genetics. 10, 2, p. 249-257

Research output: Contribution to journalArticleAcademicpeer-review

European recommendations integrating genetic testing into multidisciplinary management of sudden cardiac death

Fellmann, F., van El, C. G., Charron, P., Michaud, K., Howard, H. C., Boers, S. N., Clarke, A. J., Duguet, A. M., Forzano, F., Kauferstein, S., Kayserili, H., Lucassen, A., Mendes, Á., Patch, C., Radojkovic, D., Rial-Sebbag, E., Sheppard, M. N., Tassé, A. M., Temel, S. G., Sajantila, A. & 4 others, Basso, C., Wilde, A. A. M., Cornel, M. C. & on behalf of European Society of Human Genetics, European Council of Legal Medicine, European Society of Cardiology working group on myocardial and pericardial diseases, European Reference Network for rare, low prevalence and complex diseases of the heart (ERN GUARD-Heart), Association for European Cardiovascular Pathology, 1 Dec 2019, In : European Journal of Human Genetics. 27, 12, p. 1763-1773

Research output: Contribution to journalArticleAcademicpeer-review

Open Access

Evidence-Based Genetic Education of Non-Genetic-Expert Physicians: Experiences Over Three Decades in Amsterdam

Cornel, M. C., 1 Jan 2019, In : Frontiers in Genetics. 10, JUL, p. 712 712.

Research output: Contribution to journalReview articleAcademicpeer-review

Open Access

Genome-wide sequencing in acutely ill infants: genomic medicine's critical application?

Friedman, J. M., Bombard, Y., Cornel, M. C., Fernandez, C. V., Junker, A. K., Plon, S. E., Stark, Z., Knoppers, B. M. & Paediatric Task Team of the Global Alliance for Genomics and Health Regulatory and Ethics Work Stream, 1 Feb 2019, In : Genetics in Medicine. 21, 2, p. 498-504 7 p.

Research output: Contribution to journalArticleAcademicpeer-review

Implementing pharmacogenetics by repurposing next generation sequencing data on a personalized card

Santcroos, M. A., Vis, J. K., van der Lee, M., Anvar, S. Y., Kriek, M., Grandia, L., Sie, D. L. S., Cornel, M. C., Bet, P. M. & Swen, J. J., Oct 2019, In : European Journal of Human Genetics. 27, p. 1681-1681

Research output: Contribution to journalMeeting AbstractAcademic

Moving towards a cure in genetics: what is needed to bring somatic gene therapy to the clinic?

Cornel, M. C., Howard, H. C., Lim, D., Bonham, V. L. & Wartiovaara, K., 1 Mar 2019, In : European Journal of Human Genetics. 27, 3, p. 484-487 4 p.

Research output: Contribution to journalArticleAcademicpeer-review

Open Access

Next Generation Sequencing in health care and clinical research: attuning all steps

Rigter, T., Belien, J. A. M., de Wert, G. M. W. R., Ploem, C., Bunnik, E. M., Bredenoord, A. L. & Cornel, M. C., Oct 2019, In : European Journal of Human Genetics. 27, p. 1790-1791

Research output: Contribution to journalMeeting AbstractAcademic

Polygenetische risicopredictie van veelvoorkomende ziekten: Van epidemiologie naar klinische toepassing

Translated title of the contribution: Polygenic risk prediction of common diseases: from epidemiology to clinical applicationJansen, P. R., Broeders, M. J. M., Cornel, M. C. & Meijers-Heijboer, H., 1 Jan 2019, In : Nederlands Tijdschrift voor Geneeskunde. 163, 40

Research output: Contribution to journalArticleProfessional

Recontacting patients in clinical genetics services: recommendations of the European Society of Human Genetics

Carrieri, D., Howard, H. C., Benjamin, C., Clarke, A. J., Dheensa, S., Doheny, S., Hawkins, N., Halbersma-Konings, T. F., Jackson, L., Kayserili, H., Kelly, S. E., Lucassen, A. M., Mendes, Á., Rial-Sebbag, E., Stefánsdóttir, V., Turnpenny, P. D., van El, C. G., van Langen, I. M., Cornel, M. C., Forzano, F. & 1 others, European Society of Human Genetics, 1 Feb 2019, In : European Journal of Human Genetics. 27, 2, p. 169-182

Research output: Contribution to journalArticleAcademicpeer-review

Reply to Bombard and Mighton

Carrieri, D., Howard, H. C., Clarke, A. J., Stefansdottir, V., Cornel, M. C., van El, C. G. & Forzano, F., 1 Apr 2019, In : European Journal of Human Genetics. 27, 4, p. 507-508

Research output: Contribution to journalLetterAcademicpeer-review

The ethics of clinical applications of germline genome modification:a systematic review of reasons

van Dijke, I., Bosch, L., Bredenord, A. L., Cornel, M., Repping, S. & Hendriks, S., Jul 2019, In : European Journal of Human Genetics. 27, p. 689-689

Research output: Contribution to journalMeeting AbstractAcademic

The Gen-Equip Project: evaluation and impact of genetics e-learning resources for primary care in six European languages

Jackson, L., O'Connor, A., Paneque, M., Curtisova, V., Lunt, P. W., Pourova, R. K., Macek, M., Stefansdottir, V., Turchetti, D., Campos, M., Henneman, L., Godino, L., Skirton, H. & Cornel, M. C., 1 Mar 2019, In : Genetics in Medicine. 21, 3, p. 718-726

Research output: Contribution to journalArticleAcademicpeer-review

The use of PROMs and shared decision-making in medical encounters with patients: An opportunity to deliver value-based health care to patients

Damman, O. C., Jani, A., de Jong, B. A., Becker, A., Metz, M. J., de Bruijne, M. C., Timmermans, D. R., Cornel, M. C., Ubbink, D. T., van der Steen, M., Gray, M. & van El, C., 2019, In : Journal of Evaluation in Clinical Practice.

Research output: Contribution to journalArticleAcademicpeer-review

Open Access

Value-based genomic screening: exploring genomic screening for chronic diseases using triple value principles

Dombrádi, V., Pitini, E., van El, C. G., Jani, A., Cornel, M., Villari, P., Gray, M. & Bíró, K., 11 Nov 2019, In : BMC Health Services Research. 19, 1, p. 823 823.

Research output: Contribution to journalReview articleAcademicpeer-review

Open Access
2018

Actions, roles, and responsibilities in implementation of pharmacogenomics in primary care

Jansen, M. E., Rigter, T., Janssen, S., Rodenburg, W. & Cornel, M. C., Oct 2018, In : European Journal of Human Genetics. 26, p. 687-688

Research output: Contribution to journalMeeting AbstractAcademic

A response to the forensic genetics policy initiative's report “Establishing Best Practice for Forensic DNA Databases”

Samuel, G., Howard, H. C., Cornel, M., van El, C., Hall, A., Forzano, F. & Prainsack, B., 1 Sep 2018, In : Forensic Science International: Genetics. 36, p. e19-e21

Research output: Contribution to journalLetterAcademicpeer-review

CRISPR/Cas: Techniek om DNA-fouten te repareren Wanneer komt er een doorbraak richting de kliniek?

Van De Vrugt, H. J., Cornel, M. C. & Wolthuis, R. M. F., 1 Jan 2018, In : Nederlands Tijdschrift voor Geneeskunde. 162, 28, d2461.

Research output: Contribution to journalArticleProfessional

CRISPR/Cas: techniek om DNA-fouten te repareren

Translated title of the contribution: CRISPR/Cas: technique to repair DNA errors: is a clinical breakthrough near?van de Vrugt, H. J., Cornel, M. C. & Wolthuis, R. M. F., 29 Jun 2018, In : Nederlands Tijdschrift voor Geneeskunde. 162

Research output: Contribution to journalArticleProfessional

Evaluation of an expanded carrier screening offer in a non commercial setting

Lakeman, P., van Koningsbruggen, S., Redeker, E. J. W., Ottenheim, C. P. E., Mathijssen, I. B., Cornel, M. C., Mannens, M. M. A. M., Meijers-Heijboer, E. J. & Henneman, L., Oct 2018, In : European Journal of Human Genetics. 26, p. 82-83

Research output: Contribution to journalMeeting AbstractAcademic

Experiences of a High-Risk Population with Prenatal Hemoglobinopathy Carrier Screening in a Primary Care Setting: a Qualitative Study

Holtkamp, K. C. A., Lakeman, P., Hader, H., Jans, S. M. J. P., Hoenderdos, M., Playfair, H. A. M., Cornel, M. C., Peters, M. & Henneman, L., Jun 2018, In : Journal of Genetic Counseling. 27, 3, p. 635-646

Research output: Contribution to journalArticleAcademicpeer-review

Open Access

Gene editing, NIPT

Cornel, M. C., Oct 2018, In : European Journal of Human Genetics. 26, p. 29-30

Research output: Contribution to journalMeeting AbstractAcademic

High value genetic services through outcomes-based systems specifications

Puggina, A., Vojinovic, D., Demirkan, A., Pastorino, R., Damman, O., Parente, P., Lagerberg, T., van El, C. G., Meijers-Heijboer, H., Cornel, M., Jani, A. & Gray, M., Oct 2018, In : European Journal of Human Genetics. 26, p. 797-797

Research output: Contribution to journalMeeting AbstractAcademic

Human germline gene editing: Recommendations of ESHG and ESHRE

de Wert, G., Pennings, G., Clarke, A., Eichenlaub-Ritter, U., Van El, C. G., Forzano, F., Goddijn, M., Heindryckx, B., Howard, H. C., Radojkovic, D., Rial-Sebbag, E., Tarlatzis, B. C. & Cornel, M. C., Apr 2018, In : European Journal of Human Genetics. 26, 4, p. 445-449

Research output: Contribution to journalArticleAcademicpeer-review

It's only one extra sample of blood: Offering prenatal carrier screening for sickle cell disease and thalassemia in a high-risk population

Holtkamp, K. C. A., Lakeman, P., Hader, H., Jans, S. M. J. P., Hoenderdos, M., Cornel, M. C., Peters, M. & Henneman, L., Oct 2018, In : European Journal of Human Genetics. 26, p. 790-791

Research output: Contribution to journalMeeting AbstractAcademic

Key Implications of Data Sharing in Pediatric Genomics

Rahimzadeh, V., Schickhardt, C., Knoppers, B. M., Senecal, K., Vears, D. F., Fernandez, C. V., Pfister, S., Plon, S., Terry, S., Williams, J., Williams, M. S., Cornel, M. & Friedman, J., May 2018, In : JAMA Pediatrics. 172, 5, p. 476-481 6 p.

Research output: Contribution to journalReview articleAcademicpeer-review

Open Access

One small edit for humans, one giant edit for humankind? Points and questions to consider for a responsible way forward for gene editing in humans

Howard, H. C., van El Carla, G., Forzano, F., Radojkovic, D., Rial-Sebbag, E., de Wert, G., Borry, P. & Cornel, M. C., Jan 2018, In : European Journal of Human Genetics. 26, 1, p. 1-11

Research output: Contribution to journalArticleAcademicpeer-review

Open Access

Recent developments in genetics and medically assisted reproduction: from research to clinical applications

Harper, J. C., Aittomäki, K., Borry, P., Cornel, M. C., de Wert, G., Dondorp, W., Geraedts, J., Gianaroli, L., Ketterson, K., Liebaers, I., Lundin, K., Mertes, H., Morris, M., Pennings, G., Sermon, K., Spits, C., Soini, S., van Montfoort, A. P. A., Veiga, A., Vermeesch, J. R. & 3 others, Viville, S., Macek, M. & on behalf of the European Society of Human Reproduction and Embryology and European Society of Human Genetics, Jan 2018, In : European Journal of Human Genetics. 26, 1, p. 12-33 22 p.

Research output: Contribution to journalReview articleAcademicpeer-review

Open Access

Responsible innovation in human germline gene editing: Background document to the recommendations of ESHG and ESHRE

De Wert, G., Heindryckx, B., Pennings, G., Clarke, A., Eichenlaub-Ritter, U., Van El, C. G., Forzano, F., Goddijn, M., Howard, H. C., Radojkovic, D., Rial-Sebbag, E., Dondorp, W., Tarlatzis, B. C. & Cornel, M. C., Apr 2018, In : European Journal of Human Genetics. 26, 4, p. 450-470

Research output: Contribution to journalArticleAcademicpeer-review

Open Access

Stable estimated live birth prevalence of Down syndrome in the Netherlands, 2000-2013

Tamminga, S., de Groot-van Mooren, M. D., Weijerman, M. E., Oepkes, D. & Cornel, M. C., Oct 2018, In : European Journal of Human Genetics. 26, p. 136-136

Research output: Contribution to journalMeeting AbstractAcademic

Stakeholder Views on Active Cascade Screening for Familial Hypercholesterolemia

van El, C. G., Baccolini, V., Piko, P. & Cornel, M. C., Sep 2018, In : Healthcare. 6, 3, p. 108 1 p.

Research output: Contribution to journalArticleAcademicpeer-review

Open Access

The challenges of the expanded availability of genomic information: an agenda-setting paper

Borry, P., Bentzen, H. B., Budin-Ljosne, I., Cornel, M. C., Howard, H. C., Feeney, O., Jackson, L., Mascalzoni, D., Mendes, A., Peterlin, B., Riso, B., Shabani, M., Skirton, H., Sterckx, S., Vears, D., Wjst, M. & Felzmann, H., Apr 2018, In : Journal of Community Genetics. 9, 2, p. 103-116

Research output: Contribution to journalArticleAcademicpeer-review

Open Access

The ethics of clinical applications of germline genome modification: A systematic review of reasons

Van Dijke, I., Bosch, L., Bredenoord, A. L., Cornel, M., Repping, S. & Hendriks, S., Sep 2018, In : Human Reproduction. 33, 9, p. 1777-1796 20 p.

Research output: Contribution to journalReview articleAcademicpeer-review

Open Access

The European Gen-Equip project to create accessible resources for genetics education in primary care: an account of the process, the challenges and the successes

Jackson, L., Cornel, M., Paneque, M., Stefansdottir, V., Turchetti, D., Curtisova, V., Lunt, P. W., Campos, M., Kent, A., Macek, M. . J., Houwink, E., O'Connor, A. & Skirton, H., Oct 2018, In : European Journal of Human Genetics. 26, p. 71-72

Research output: Contribution to journalMeeting AbstractAcademic

The Personalized PREvention of Chronic Diseases (PRECeDI) recommendations on Personalized Medicine

Pastorino, R., Adany, R., Barnhoorn, F., Boffetta, P., Boretti, F., Cornel, M., Van Duijn, C., Gray, M., Roldan, J., Villari, P., Zawati, M. & Boccia, S., Nov 2018, In : European Journal of Public Health. 28, p. 207-208

Research output: Contribution to journalMeeting AbstractAcademic

2017

Aggregated N-of-1 trials for unlicensed medicines for small populations: an assessment of a trial with ephedrine for myasthenia gravis

Weinreich, S. S., Vrinten, C., Kuijpers, M. R., Lipka, A. F., Schimmel, K. J. M., Van Zwet, E. W., Gispen-De Wied, C., Hekster, Y. A., Verschuuren, J. J. G. M. & Cornel, M. C., 12 May 2017, In : Orphanet Journal of Rare Diseases. 12, 1, 88.

Research output: Contribution to journalArticleAcademicpeer-review