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Research Output 1986 2019

2019

Correction to: The Gen-Equip Project: evaluation and impact of genetics e-learning resources for primary care in six European languages (Genetics in Medicine, (2018), 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., Jul 2019, In : Genetics in Medicine. 21, 7, p. 1669-1669

Research output: Contribution to journalErratumAcademicpeer-review

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., 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

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, 2019, In : European Journal of Human Genetics.

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., 2019, In : Frontiers in Genetics. 10, p. 712

Research output: Contribution to journalReview articleAcademicpeer-review

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

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

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., Mar 2019, In : European Journal of Human Genetics. 27, 3, p. 484-487

Research output: Contribution to journalArticleAcademicpeer-review

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

European Society of Human Genetics, 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., Apr 2019, In : European Journal of Human Genetics. 27, 4, p. 507-508

Research output: Contribution to journalLetterAcademicpeer-review

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., Mar 2019, In : Genetics in Medicine. 21, 3, p. 718-726

Research output: Contribution to journalArticleAcademicpeer-review

2018

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

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 journalArticleAcademicpeer-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 journalArticleAcademicpeer-review

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

From rationing to rationality: Feasibility and acceptability of n-of-one trials for rare diseases

Vrinten, C., 2018, 245 p.

Research output: ThesisResearch VU University Amsterdam, graduation VU University AmsterdamAcademic

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

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

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 othersViville, 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

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 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

Barriers and facilitating factors for implementation of genetic services: A public health perspective

Cornel, M. C. & van El, C. G., 1 Aug 2017, In : Frontiers in Public Health. 5, 195.

Research output: Contribution to journalArticleAcademicpeer-review

Blame—a novel by Tony Holtzman

Cornel, M. C., 1 Oct 2017, In : Journal of Community Genetics. 8, 4, p. 253-254 2 p.

Research output: Contribution to journalArticleAcademicpeer-review

Common Elements in Rare Kidney Diseases: Conclusions from a Kidney Disease: Improving Global Outcomes (KDIGO) Controversies Conference

Aymé, S., Bockenhauer, D., Day, S., Devuyst, O., Guay-Woodford, L. M., Ingelfinger, J. R., Klein, J. B., Knoers, N. V. A. M., Perrone, R. D., Roberts, J., Schaefer, F., Torres, V. E., Cheung, M., Wheeler, D. C., Winkelmayer, W. C. & Conference Participants, 1 Oct 2017, In : Kidney International. 92, 4, p. 796-808 13 p.

Research output: Contribution to journalArticleAcademicpeer-review

Ephedrine treatment for autoimmune myasthenia gravis

Lipka, A. F., Vrinten, C., van Zwet, E. W., Schimmel, K. J. M., Cornel, M. C., Kuijpers, M. R., Hekster, Y. A., Weinreich, S. S. & Verschuuren, J. J. G. M., 1 Mar 2017, In : Neuromuscular Disorders. 27, 3, p. 259-265 7 p.

Research output: Contribution to journalArticleAcademicpeer-review

Factors for successful implementation of population-based expanded carrier screening: Learning from existing initiatives

Holtkamp, K. C. A., Mathijssen, I. B., Lakeman, P., van Maarle, M. C., Dondorp, W. J., Henneman, L. & Cornel, M. C., 1 Apr 2017, In : European Journal of Public Health. 27, 2, p. 372-377 6 p.

Research output: Contribution to journalArticleAcademicpeer-review

Genomic newborn screening: public health policy considerations and recommendations

Friedman, J. M., Cornel, M. C., Goldenberg, A. J., Lister, K. J., Sénécal, K. & Vears, D. F., 21 Feb 2017, In : BMC Medical Genomics. 10, 1, 9.

Research output: Contribution to journalArticleAcademicpeer-review

Genomics for all in the 21st century?

Cornel, M. C. & Bonham, V. L., 1 Oct 2017, In : Journal of Community Genetics. 8, 4, p. 249-251 3 p.

Research output: Contribution to journalArticleAcademicpeer-review

Implementing carrier screening in a changing landscape: Perspectives of public and professional stakeholders

Holtkamp, KCA., 2017, 237 p.

Research output: ThesisResearch VU University Amsterdam, graduation VU University AmsterdamAcademic

Open Access

Implementing genetic education in primary care: the Gen-Equip programme

Paneque, M., Cornel, M. C., Curtisova, V., Houwink, E., Jackson, L., Kent, A., Lunt, P., Macek, M., Stefansdottir, V., Turchetti, D. & Skirton, H., 1 Apr 2017, In : Journal of Community Genetics. 8, 2, p. 147-150 4 p.

Research output: Contribution to journalArticleAcademicpeer-review

Implementing non-invasive prenatal testing for aneuploidy in a national healthcare system: Global challenges and national solutions

Van Schendel, R. V., Van El, C. G., Pajkrt, E., Henneman, L. & Cornel, M. C., 19 Sep 2017, In : BMC Health Services Research. 17, 1, 670.

Research output: Contribution to journalArticleAcademicpeer-review

Open Access

Newborn screening programmes in Europe, arguments and efforts regarding harmonisation: Focus on organic acidurias

Hörster, F., Kölker, S., Loeber, J. G., Cornel, M. C., Hoffmann, G. F. & Burgard, P., 1 Jan 2017, JIMD Reports. Springer, Vol. 32. p. 105-115 11 p. (JIMD Reports; vol. 32).

Research output: Chapter in Book/Report/Conference proceedingChapterAcademicpeer-review

Policy making in newborn screening needs a structured and transparent approach

Jansen, M. E., Lister, K. J., van Kranen, H. J. & Cornel, M. C., 21 Mar 2017, In : Frontiers in Public Health. 5, MAR, 53.

Research output: Contribution to journalShort surveyAcademicpeer-review

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

European Society of Human Reproduction and Embryology and European Society of Human Genetics, 2017, In : Human reproduction open. 2017, 3, p. hox015

Research output: Contribution to journalArticleAcademicpeer-review

Review of the reported measures of clinical validity and clinical utility as arguments for the implementation of pharmacogenetic testing: A case study of statin-induced muscle toxicity

Jansen, M. E., Rigter, T., Rodenburg, W., Fleur, T. M. C., Houwink, E. J. F., Weda, M. & Cornel, M. C., 23 Aug 2017, In : Frontiers in Pharmacology. 8, AUG, 555.

Research output: Contribution to journalArticleAcademicpeer-review

Stakeholder perspectives on the implementation of genetic carrier screening in a changing landscape

Holtkamp, K. C. A., Vos, E. M., Rigter, T., Lakeman, P., Henneman, L. & Cornel, M. C., 16 Feb 2017, In : BMC Health Services Research. 17, 1, 146.

Research output: Contribution to journalArticleAcademicpeer-review

The development of the public and professional policy committee

Ayme, S. & Cornel, M. C., Dec 2017, In : European Journal of Human Genetics. 25, s2, p. S29-S32

Research output: Contribution to journalEditorialProfessional

What Do Parents of Children with Down Syndrome Think about Non-Invasive Prenatal Testing (NIPT)?

van Schendel, R. V., Kater-Kuipers, A., van Vliet-Lachotzki, E. H., Dondorp, W. J., Cornel, M. C. & Henneman, L., 1 Jun 2017, In : Journal of Genetic Counseling. 26, 3, p. 522-531 10 p.

Research output: Contribution to journalArticleAcademicpeer-review

Open Access

What do people want to know about NIPT? Content analysis of questions emailed to national NIPT information websites

Tamminga, S., van Dussen, L., Verweij, E. J. J., de Boer, M. A., Cornel, M. C., Henneman, L. & Dutch NIPT Consortium, 1 Apr 2017, In : Prenatal Diagnosis. 37, 4, p. 412-415 4 p.

Research output: Contribution to journalArticleAcademicpeer-review

2016

Barriers and facilitating factors for implementation of genetic services

Cornel, M. C., Nov 2016, In : European Journal of Public Health. 26

Research output: Contribution to journalMeeting AbstractAcademic

Dragerschapscreening: gericht op risicogroepen of populatiebreed? Verslag van een stakeholdermeeting POM project

Holtkamp, KCA., Lakeman, P., van Maarle, MC., van der Hout, S., Dondorp, WJ., van Vliet-Lochotzki, E., Cornel, MC. & Henneman, L., 29 Jan 2016, VUmc Amsterdam. 14 p.

Research output: Book/ReportReportAcademic

File

Future of cardiogenetics

Cornel, MC., Houwink, EJF. & Semsarian, C., 2016, Clinical Cardiogenetics. Baars, H. F., Doevendans, P. A. F. M., Houweling, A. C. & van Tintelen, J. P. (eds.). Switzerland: Springer International Publishing, p. 389-393

Research output: Chapter in Book/Report/Conference proceedingChapterAcademic

Future of cardiogenetics

Cornel, M. C., Houwink, I. & Semsarian, C., 30 Nov 2016, Clinical Cardiogenetics: Second Edition. Springer International Publishing Switzerland, p. 389-393 5 p.

Research output: Chapter in Book/Report/Conference proceedingChapterAcademicpeer-review

Implementing genetic tests : infertility and newborn bloodspot screening

Jansen, M. E., 27 Jan 2016, Maastricht: Maastricht University.

Research output: ThesisResearch external, graduation externalAcademic

Implementing Non-Invasive Prenatal Testing (NIPT): Perspectives of patients and professionals

van Schendel, R. V., 2016

Research output: ThesisResearch VU University Amsterdam, graduation VU University AmsterdamAcademic

Maternal Plasma DNA and RNA Sequencing for Prenatal Testing

Tamminga, S., van Maarle, M., Henneman, L., Oudejans, C. B. M., Cornel, M. C. & Sistermans, E. A., 2016, In : Advances in Clinical Chemistry . 74, p. 63-102

Research output: Contribution to journalReview articleAcademicpeer-review