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Research Output 1986 2019

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2019

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

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

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

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

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

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

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
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 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

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

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

Mothers' Views on Longer Storage of Neonatal Dried Blood Spots for Specific Secondary Uses

van Teeffelen, S. R., Douglas, C. M. W., van El, C. G., Weinreich, S. S., Henneman, L., Radstake, M. & Cornel, M. C., 2016, In : Public Health Genomics. 19, 1, p. 25-33

Research output: Contribution to journalArticleAcademicpeer-review

Recontacting Pediatric Research Participants for Consent When They Reach the Age of Majority

Knoppers, B. M., Senecal, K., Boisjoli, J., Borry, P., Cornel, M. C., Fernandez, C. V., Grewal, J., Holm, I. A., Nelson, E., Pinxten, W., Shabani, M., Shabani, M., Tassé, A. M., Zawati, M. & Wright Clayton, E., 2016, In : IRB: Ethics & Human research . 38, 6, p. 1-9

Research output: Contribution to journalArticleAcademic

Recontacting Pediatric Research Participants for Consent When They Reach the Age of Majority

Knoppers, B. M., Sénécal, K., Boisjoli, J., Borry, P., Cornel, M. C., Fernandez, C. V., Grewal, J., Holm, I. A., Nelson, E., Pinxten, W., Shabani, M., Tassé, A. M., Zawati, M. & Clayton, W., 1 Nov 2016, In : IRB. 38, 6, p. 1-9 9 p.

Research output: Contribution to journalArticleAcademicpeer-review

Responsible implementation of expanded carrier screening

Henneman, L., Borry, P., Chokoshvili, D., Cornel, M. C., van El, C. G., Forzano, F., Hall, A., Howard, H. C., Janssens, S., Kayserili, H., Lakeman, P., Lucassen, A., Metcalfe, S. A., Vidmar, L., de Wert, G., Dondorp, W. J. & Peterlin, B., Jun 2016, In : European Journal of Human Genetics. 24, 6, p. E1-E12

Research output: Contribution to journalArticleAcademicpeer-review

Users evaluate a detailed familial risk questionnaire as valuable and no more time consuming than a simple enquiry in a web-based diabetes risk assessment tool

wijdenes-Pijl, M., Henneman, L., Dondorp, W. J., Cornel, M. C. & Timmermans, D. R. M., 1 Jan 2016, In : Public Health. 130, p. 87-90 4 p.

Research output: Contribution to journalArticleAcademicpeer-review

2015

A decade of molecular genetic testing for MODY: a retrospective study of utilization in The Netherlands

Weinreich, S. S., Bosma, A. R., Henneman, L., Rigter, T., Spruijt, C. M. J., Grimbergen, A. J. E. M., Breuning, M. H., de Koning, E. J. P., Losekoot, M. & Cornel, M. C., 2015, In : European Journal of Human Genetics. 23, 1, p. 29-33

Research output: Contribution to journalArticleAcademicpeer-review

Changing to NIPT as a first-tier screening test and future perspectives: opinions of health professionals

Tamminga, S., van Schendel, R. V., Rommers, W., Bilardo, C. M., Pajkrt, E., Dondorp, W. J., van Maarle, M., Cornel, M. C. & Henneman, L., 2015, In : Prenatal Diagnosis. 35, 13, p. 1316-1323

Research output: Contribution to journalArticleAcademicpeer-review

Current and Best Practices of Genetic Testing for Maturity Onset Diabetes of the Young: Views of Professional Experts

van der Zwaag, A. M., Weinreich, S. S., Bosma, A. R., Rigter, T., Losekoot, M., Henneman, L. & Cornel, M. C., 2015, In : Public Health Genomics. 18, 1, p. 52-59

Research output: Contribution to journalArticleAcademicpeer-review

Determining the genome-wide kinship coefficient seems unhelpful in distinguishing consanguineous couples with a high versus low risk for adverse reproductive outcome

Kelmemi, W., Teeuw, M. E., Bochdanovits, Z., Ouburg, S., Jonker, M. A., Alkuraya, F., Hashem, M., Kayserili, H., van Haeringen, A., Sheridan, E., Masri, A., Cobben, J. M., Rizzu, P., Kostense, P. J., Dommering, C. J., Henneman, L., Bouhamed-Chaabouni, H., Heutink, P., ten Kate, L. P. & Cornel, M. C., 2015, In : BMC Medical Genetics. 16, 50.

Research output: Contribution to journalArticleAcademicpeer-review

Effect of Comprehensive Oncogenetics Training Interventions for General Practitioners, Evaluated at Multiple Performance Levels

Houwink, E. J. F., Muijtjens, A. M. M., van Teeffelen, S. R., Henneman, L., Rethans, J. J., Jacobi, F., van der Jagt, L., Stirbu, I., van Luijk, S. J., Stumpel, C. T. R., Meijers-Heijboer, H. E., van der Vleuten, C., Cornel, M. C. & Dinant, G. J., 2015, In : PLoS ONE. 10, 4, e0122648.

Research output: Contribution to journalArticleAcademicpeer-review

Ephedrine as add-on therapy for patients with myasthenia gravis: protocol for a series of randomised, placebo-controlled n-of-1 trials

Vrinten, C., Lipka, A. F., 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., 2015, In : BMJ Open. 5, 7, e007863.

Research output: Contribution to journalArticleAcademicpeer-review

Farmacogenetica in de eerstelijnszorg. Toepassingen en toekomstverwachtingen

Houwink, E. J. F., Rigter, T., Swen, J. J., Cornel, M. C., Kienhuis, A., Rodenburg, W. & Weda, M., 2015, In : Nederlands Tijdschrift voor Geneeskunde. 159, A9204.

Research output: Contribution to journalArticleProfessional

Het voorspellen van ziekterisico’s

Cornel, M. C., 2015, In : Bijblijven: tijdschrift praktische huisartsengeneeskunde. 31, 8, p. 560-566

Research output: Contribution to journalArticleProfessional

Neonatale screening: nieuwe aanbevelingen van de Gezondheidsraad

Cornel, M. C., 2015, In : Nederlands Tijdschrift voor Geneeskunde. 159, A9115.

Research output: Contribution to journalArticleProfessional

Nieuwe aanbevelingen voor neonatale screening. Een rapport van de Gezondheidsraad

Cornel, M. C., 2015, In : Nederlands Tijdschrift voor Geneeskunde. 159, p. A9115

Research output: Contribution to journalArticleAcademicpeer-review

Non-invasive prenatal testing for aneuploidy and beyond: challenges of responsible innovation in prenatal screening

Dondorp, W., de Wert, G., Bombard, Y., Bianchi, D. W., Bergmann, C., Borry, P., Chitty, L. S., Fellmann, F., Forzano, F., Hall, A., Henneman, L., Howard, H. C., Lucassen, A., Ormond, K., Peterlin, B., Radojkovic, D., Rogowski, W., Soller, M., Tibben, A., Tranebjaerg, L. & 2 othersvan El, C. G. & Cornel, M. C., 2015, In : European Journal of Human Genetics. 23, 11, p. 1438-1450

Research output: Contribution to journalArticleAcademicpeer-review

Points to consider for prioritizing clinical genetic testing services: a European consensus process oriented at accountability for reasonableness

Severin, F., Borry, P., Cornel, M. C., Daniels, N., Fellmann, F., Hodgson, SV., Howard, H. C., John, J., Kaariainen, H., Kayserili, H., Kent, A., Koerber, F., Kristoffersson, U., Kroese, M., Lewis, C., Marckmann, G., Meyer, P., Pfeufer, A., Schmidtke, J., Skirton, H. & 2 othersTranebjaerg, L. & Rogowski, W. H., 2015, In : European Journal of Human Genetics. 23, 6, p. 729-735

Research output: Contribution to journalArticleAcademicpeer-review

Screening for Familial Hypercholesterolemia in Children: What Can We Learn From Adult Screening Programs?

Henneman, L., McBride, C. M., Cornel, M. C., Duquette, D. & Qureshi, N., 2015, In : Healthcare. 3, 4, p. 1018-1030

Research output: Contribution to journalArticleAcademicpeer-review