Publicaties

Bakkeren IM, Henneman L, van Vliet-Lachotzki EH, Martin L, Gitsels-van der Wal JT, Polak MG, Bekker MN, Galjaard RJH, and the Dutch NIPT Consortium.  Psychological impact of receiving findings other than trisomy 21, 18 or 13 with Non-Invasive Prenatal Testing (NIPT): TRIDENT-2 study. Eur J Hum Genetics. ePub ahead of print.

Becking E, Schuit E, van Baar de Knegt S, Sistermans E, Henneman L, Bekker M, Scheffer P. Association between low fetal fraction in cell-free DNA screening and fetal chromosomal aberrations: a systematic review and meta-analysis. Pren Diagn. 2023;43:838–853

Bronsgeest K, Lust EER, Henneman L, Crombag N, Bilardo CM, Stemkens D, Galjaard RJH, Sikkel E, van der Hout SH, Bekker MN, Haak MC. Current practice of first-trimester ultrasound screening for structural fetal anomalies in developed countries. Pren Diagn. 2023;43:873–880

Claesen Z, Crombag N, Henneman L, Vermeesch JR, Borry P. Expanded non-invasive prenatal testing (NIPT): Can the child’s right to an open future help set the scope? Journal of Bioethical Inquiry. 2023;20(1):41-49

Damman OC, Henneman L, van den Ijssel DV, Timmermans DRM. Conditions for autonomous reproductive decisions in prenatal screening: a mixed methods study. Midwifery 2023;119:103607

Forzano F, Antonova O, Clarke A, de Wert G, Hentze S, Jamshidi Y, Moreau Y, Perola M, Prokopenko I, Read A, Reymond A, Stefansdottir V, van El C, Genuardi M; Executive Committee of the European Society of Human Genetics; Public and Professional Policy Committee of the European Society of Human Genetics. Reply to Letter by Tellier et al., ‘Scientific refutation of ESHG statement on embryo selection’. Eur J Hum Genet. 2023;31:279-281.

Geuverink, W., van El, C., Cornel, M. et al. Between desire and fear: a qualitative interview study exploring the perspectives of carriers of a genetic condition on human genome editing. Humanit Soc Sci Commun 10, 477 (2023).

de Groot-van der Mooren MD, Scheerman BC, Rammeloo LAJ, van Wieringen H, van Wermeskerken AM, van der Plas R, de Winter P, Weijerman ME, Cornel MC, van Kaam AH. Neonatal mortality and morbidity in Down syndrome in the time of prenatal aneuploidy testing: a retrospective cohort study. Eur J Pediatr 2023;182:319-328

Houtman D, Geuverink W, Helmrich IRAR, Vijlbrief B, Cornel M, Riedijk S. “What if” should precede “whether” and “how” in the social conversation around human germline gene editing. J Community Genet 2023

Houtman D, Vijlbrief B, Polak M, Pot J, Verhoef P, Cornel M, Riedijk S. Changes in opinions about human germline gene editing as a result of the Dutch DNA-dialogue project. Eur J Hum Genet. 2023;31:409–416

Jansen ME, Rigter T, Fleur TMC, Souverein PC, Verschuren WMM, Vijverberg SJ, Swen JJ, Rodenburg W, Cornel MC. Predictive Value of SLCO1B1 c.521T>C Polymorphism on Observed Changes in the Treatment of 1136 Statin-Users. Genes 2023;14:456

Kuiper JML, Borry P, Vears DF, Van Esch H, Cornel MC, Van Hoyweghen I. Dealing with ambivalence in the practice of advanced genetic healthcare: towards an ethical choreography. Eur J Hum Genet. 2023 Aug 18. doi: 10.1038/s41431-023-01436-3.

Lannoo L, van der Meij KRM, Bekker MN, De Catte L, Deckers S, Devriendt K, Roggen N, Galjaard RJH, Gitsels-van der Wal J, Macville MVE, Martin L, Sistermans EA, Van Calsteren K, Van Keirsbilck J, Crombag N, Henneman L. A cross-country comparison of pregnant women’s decision-making and perspectives on non-invasive prenatal testing in the Netherlands and Belgium. Pren. Diagn. 2023;43(3):294-303

Lust EER, Bronsgeest K, Henneman L, Crombag N, Bilardo CM, van Vliet-Lachotzki EH, Galjaard RH, Sikkel E, Haak MC, Bekker MN. Informed choice and routinization of the second-trimester anomaly scan: a national cohort study in the Netherlands. BMC Pregnancy Childbirth. 2023;23(1):694.

Van Keirsbilck J, Crombag N, Henneman L A cross-country comparison of pregnant women’s decision-making and perspectives on non-invasive prenatal testing in the Netherlands and Belgium. Pren. Diagn. 2023;43(3):294-303.

Lust EER, Bronsgeest K, Henneman L, Crombag N, Bilardo CM, van Vliet-Lachotzki EH, Galjaard RH, Sikkel E, Haak MC, Bekker MN. Informed choice and routinization of the second-trimester anomaly scan: a national cohort study in the Netherlands. BMC Pregnancy Childbirth. 2023;23(1):694.

Olde Keizer RACM, Marouane A, Kerstjens-Frederikse WS, Deden AC, Lichtenbelt KD, Jonckers T, Vervoorn M, Vreeburg M, Henneman L, de Vries LS, Sinke RJ, Pfundt R, Stevens RJC, Andriessen P, van Lingen RA, Nelen M, Scheffer H, Stemkens D, Oosterwijk C, Ploos van Amstel HK, de Boode WP, van Zelst-Stams WAG, Frederix GWJ, Vissers LELM, RADICON-NL consortium. Rapid exome sequencing as a first‑tier test in neonates with suspected genetic disorder: results of a prospective multicenter clinical utility study in the Netherlands. Eur J Pediatr. 2023;182(6):2683-2692

van den Heuvel LM, van den Berg N, Janssens ACJW, Birnie E, Henneman L, Dondorp WJ, Plantinga M, van Langen IM. Societal implications of expanded universal carrier screening: a scoping review. Eur J Hum Genet. 2023;31:55–72

van den Heuvel LM, Woudstra AJ, van der Hout S, Jans S, Wiersma T, Dondorp W, Birnie E, Lakeman P, Henneman L, Plantinga M, van Langen IM. Primary care professionals’ views on population-based expanded carrier screening: an online focus group study. Family Practice 2023; cmad011

van den Heuvel LM, Kater-Kuipers A, van Dijk T, Crefcoeur LL, Visser G, Langeveld M, Henneman L. A qualitative study on the perspectives of mothers who haved been diagnosed with primary carnitine deficiency through newborn screening of their child. Orphanet J of Rare Diseases 2023;18(1):134

van der Meij KRM, van de Pol QYF, Bekker MN, Martin L, Gitsels-van der Wal J, van Vliet-Lachotzki EH, Weiss JM, Galjaard RH, Sistermans EA, Macville MVE, Henneman L; Dutch NIPT Consortium. Experiences of pregnant women with genome-wide non-invasive prenatal testing in a national screening program. Eur J Hum Genet 2023;31:555–561

van der Meij KRM, Henneman L, Sistermans EA. Non-invasive prenatal testing for everybody or contingent screening? Pren Diagn. 2023;43:443–447

van Prooyen Schuurman E, van der Meij KRM, van Ravesteyn NT, Crombag NM, Gitsels-van der Wal JT, Kooij C, Martin L, Peters IA, Polak MG, van Vliet-Lachotzki EH, Galjaard RJH, Henneman L; Dutch NIPT Consortium. Factors involved in the decision to decline prenatal screening with non-invasive prenatal testing (NIPT). Pren. Diagn. 2023;43:467–476

Yska HAF, Henneman L, Barendsen RW, Engelen M, Kemp S. Attitudes of patients with adrenoleukodystrophy towards sex-specific newborn screening. Int J Neonatal Screening 2023, 9(3), 51. doi.org/10.3390/ijns9030051 (IF 3.5).

Houtman D, Vijlbrief B, Polak M, Pot J, Verhoef P, Cornel M, Riedijk S. Changes in opinions about human germline gene editing as a result of the Dutch DNA-dialogue project. Eur J Hum Genet. 2022 May 12. doi: 10.1038/s41431-022-01114-w.

van der Meij, K.R.M., van de Pol, Q.Y.F., Bekker, M.N. et al. Experiences of pregnant women with genome-wide non-invasive prenatal testing in a national screening program. Eur J Hum Genet (2022). https://doi.org/10.1038/s41431-022-01248-x

Clarke AJ, van El CG. Genomics and justice: mitigating the potential harms and inequities that arise from the implementation of genomics in medicine. Hum Genet. 2022;141(5):1099-1107. doi: 10.1007/s00439-022-02453-w.

Fijen LM, Petersen RS, Levi M, Lakeman P, Henneman L, Cohn DM. Patient perspectives on reproductive options for hereditary angioedema: a cross-sectional survey study. J Allergy Clin Immunol Pract. 2022;S2213-2198(22)00579-7. doi: 10.1016/j.jaip.2022.05.030.

Forzano F, Antonova O, Clarke A, de Wert G, Hentze S, Jamshidi Y, Moreau Y, Perola M, Prokopenko I, Read A, Reymond A, Stefansdottir V, van El C, Genuardi M; Executive Committee of the European Society of Human Genetics; Public and Professional Policy Committee of the European Society of Human Genetics. The use of polygenic risk scores in pre-implantation genetic testing: an unproven, unethical practice. Eur J Hum Genet. 2022;30:493-495. doi: 10.1038/s41431-021-01000-x.

Garcia E, Henneman L, Gitsels-van der Wal JT, Martin L, Koopmanschap I, Bekker MN, Timmermans DRM. Non-invasive prenatal testing (NIPT) and pregnant women’s views on good motherhood: a qualitative study. Eur J Hum Genet. 2022;30(6):669-675. doi: 10.1038/s41431-021-00945-3.

Heesterbeek CJ, Aukema SM, Galjaard RH, Boon EMJ, Srebniak MI, Bouman K, Faas BHW, Govaerts LCP, Hoffer MJV, den Hollander NS, Lichtenbelt KD, van Maarle MC, van Prooyen Schuurman L, van Rij MC, Schuring-Blom GH, Stevens SJC, Tan-Sindhunata G, Zamani Esteki M, de Die-Smulders CEM, Tjan-Heijnen VCG, Henneman L, Sistermans EA, Macville MVE; Dutch NIPT Consortium. Noninvasive Prenatal Test results indicative of maternal malignancies: a nationwide genetic and clinical follow-up study. J Clin Oncol. 2022 Apr 8:JCO2102260. doi: 10.1200/JCO.21.02260.

Houtman D, Vijlbrief B, Polak M, Pot J, Verhoef P, Cornel M, Riedijk S. Changes in opinions about human germline gene editing as a result of the Dutch DNA-dialogue project. Eur J Hum Genet. 2022 May 12. doi: 10.1038/s41431-022-01114-w.

Martin L, Gitsels-van der Wal JT, Bax CJ, Pieters MJ, Reijerink-Verheij JCIY, Galjaard RJ, Henneman L; Dutch NIPT Consortium. Nationwide implementation of the non-invasive prenatal test: Evaluation of a blended learning program for counselors. PLoS One. 2022;17(5):e0267865. doi: 10.1371/journal.pone.0267865.

Olde Keizer RACM, Marouane A, Deden AC, van Zelst-Stams WAG, de Boode WP, Keusters WR, Henneman L, van Amstel JKP, Frederix GWJ, Vissers LELM. Medical costs of children admitted to the neonatal intensive care unit: The role and possible economic impact of WES in early diagnosis. Eur J Med Genet. 2022 ;65(5):104467. doi: 10.1016/j.ejmg.2022.104467.

Onstwedder SM, Jansen ME, Leonardo Alves T, Cornel MC, Rigter T. Pursuing Public Health Benefit Within National Genomic Initiatives: Learning From Different Policies. Front. Genet. 2022;13:865799. doi: 10.3389/fgene.2022.865799

Lieke M. van den Heuvel, Nina van den Berg, A. Cecile J.W. Janssens, Erwin Birnie, Lidewij Henneman, Wybo J. Dondorp, Mirjam Plantinga, Irene M. van Langen. Societal implications of expanded universal carrier screening: a scoping review. EJHG, doi: 10.1038/s41431-022-01178-8.

van der Meij KRM, Njio A, Martin L, Gitsels-van der Wal JT, Bekker MN, van Vliet-Lachotzki EH, van der Ven AJEM, Kater-Kuipers A, Timmermans DRM, Sistermans EA, Galjaard RH, Henneman L; Dutch NIPT Consortium. Routinization of prenatal screening with the non-invasive prenatal test: pregnant women’s perspectives. Eur J Hum Genet. 2022;30:661–668. doi: 10.1038/s41431-021-00940-8.

van der Pal S, Sophie Wins, Jasmijn E. Klapwijk, Tessa van Dijk, Adriana Kater-Kuipers, Catharina P. B. van der Ploeg, Suze Jans, Stephan Kemp, Rendelien K. Verschoof-Puite, Lion J.M. van den Bosch, Lidewij Henneman. Parents’ views on accepting, declining, and expanding newborn bloodspot screening. PLoS One 17(8):e0272585. doi: 10.1371/journal.pone.0272585

van Dijke I, van El CG, Lakeman P, Goddijn M, Rigter T, Cornel MC, Henneman L. Dynamics of reproductive genetic technologies: perspectives of professional stakeholders. PLoS One. 2022;17(6):e0269719. doi: 10.1371/journal.pone.0269719.

van Prooyen Schuurman L, Sistermans EA, Van Opstal D, Henneman L, Bekker MN, Bax CJ, Pieters MJ, Bouman K, de Munnik S, den Hollander NS, Diderich KEM, Faas BHW, Feenstra I, Go ATJI, Hoffer MJV, Joosten M, Komdeur FL, Lichtenbelt KD, Lombardi MP, Polak MG, Jehee FS, Schuring-Blom H, Stevens SJC, Srebniak MI, Suijkerbuijk RF, Tan-Sindhunata GM, van der Meij KRM, van Maarle MC, Vernimmen V, van Zelderen-Bhola SL, van Ravesteyn NT, Knapen MFCM, Macville MVE, Galjaard RH; Dutch NIPT consortium. Clinical impact of additional findings detected by genome-wide non-invasive prenatal testing: Follow-up results of the TRIDENT-2 study. Am J Hum Genet. 2022;109(6):1140-1152. doi: 10.1016/j.ajhg.2022.04.018.

Verberne EA, van den Heuvel LM, Ponson-Wever M, de Vroomen M, Manshande ME, Faries S, Ecury-Goossen GM, Henneman L, van Haelst MM. Genetic diagnosis for rare diseases in the Dutch Caribbean: a qualitative study on the experiences and associated needs of parents. Eur J Hum Genet. 2022;30(5):587-594. doi: 10.1038/s41431-022-01039-4.

Woudstra AJ, van den Heuvel LM, van Vliet-Lachotzki EH, Dondorp W, Lakeman P, van Langen IM, Henneman L. Views of patients and parents of children with genetic disorders on population-based expanded carrier screening. Prenatal Diagnosis, 2022;42:1201–1210. https://doi.org/10.1002/pd.6200

Kok, AAL, Twisk, JWR, Blom, F, Beekman, ATF & Huisman, M 2021, ‘Steeling or sensitizing? A longitudinal examination of how ongoing accumulation of negative life events affects depressive symptoms in older adults’, Journals of Gerontology. Series B: Psychological Sciences and Social Sciences, vol. 76, no. 10, pp. 2041-2053. https://doi.org/10.1093/geronb/gbab114, https://doi.org/10.1093/geronb/gbab114

Amy Nisselle, Monika Janinski, Melissa Martyn, Belinda McClaren, Nadia Kaunein, Jane Maguire, Erin Rooney Riggs, Kristine Barlow-Stewart, Andrea Belcher, John A. Bernat, Stephanie Best, Michelle Bishop, June C. Carroll, Martina Cornel, Vajira H.W. Dissanayake, Agnes Dodds, Kate Dunlop, Gunjan Garg, Russell Gear, Debra Graves, Ken Knight, Bruce Korf, Dhavendra Kumar, Mercy Laurino, Alan Ma, Jane Maguire, Andrew Mallett, Maria McCarthy, Alison McEwen, Nicola Mulder, Chirag Patel, Catherine Quinlan, Kate Reed, Erin Rooney Riggs, Ingrid Sinnerbrink, Anne Slavotinek, Vijayaprakash Suppiah, Bronwyn Terrill, Edward S. Tobias, Emma Tonkin, Steve Trumble, Tina-Marie Wessels, Sylvia Metcalfe, Helen Jordan, Clara Gaff. Reporting Item Standards for Education and its Evaluation in Genomics Expert Group 2021, ‘Ensuring best practice in genomics education and evaluation: reporting item standards for education and its evaluation in genomics (RISE2 Genomics)’, Genetics in Medicine, vol. 23, no. 7, pp. 1356-1365. https://doi.org/10.1038/s41436-021-01140-x

Bunnik, EM, Dondorp, WJ, Bredenoord, AL, de Wert, G & Cornel, MC 2021, ‘Mainstreaming informed consent for genomic sequencing: A call for action’, European Journal of Cancer, vol. 148, pp. 405-410. https://doi.org/10.1016/j.ejca.2021.02.029

Bunnik, EM, Dondorp, WJ, Bredenoord, AL, de Wert, GMWR & Cornel, MC 2021, ‘Response to letter entitled: Re: Mainstreaming informed consent for genomic sequencing: A call for action Discussing opt-out options during informed consent discussions in mainstream settings’, European Journal of Cancer, vol. 155, pp. 310-312. https://doi.org/10.1016/j.ejca.2021.06.041

Müller, AR, Brands, MM, van de Ven, PM, Roes, KC, Cornel, MC, van Karnebeek, CD, Wijburg, FA, Daams, JG, Boot, E & van Eeghen, AM 2021, ‘Systematic Review of N-of-1 Studies in Rare Genetic Neurodevelopmental Disorders: The Power of 1’, Neurology, vol. 96, no. 11, pp. 529-540. https://doi.org/10.1212/WNL.0000000000011597

Stiles, MK, Wilde, AAM, Abrams, DJ, Ackerman, MJ, Albert, CM, Behr, ER, Chugh, SS, Cornel, MC, Gardner, K, Grad, JI, James, CA, Jimmy Juang, J-M, Kääb, S, Kaufman, ES, Krahn, AD, Lubitz, SA, MacLeod, H, Morillo, CA, Nademanee, K, Probst, V, Saarel, EV, Sacilotto, L, Semsarian, C, Sheppard, MN, Shimizu, W, Skinner, JR, Tfelt-Hansen, J, Wang, DW & Document Reviewers 2021, ‘2020 APHRS/HRS expert consensus statement on the investigation of decedents with sudden unexplained death and patients with sudden cardiac arrest, and of their families’, Heart Rhythm, vol. 18, no. 1, pp. e1-e50. https://doi.org/10.1016/j.hrthm.2020.10.010

Stiles, MK, Wilde, AAM, Abrams, DJ, Ackerman, MJ, Albert, CM, Behr, ER, Chugh, SS, Cornel, MC, Gardner, K, Ingles, J, James, CA, Juang, J-MJ, Kääb, S, Kaufman, ES, Krahn, AD, Lubitz, SA, MacLeod, H, Morillo, CA, Nademanee, K, Probst, V, Saarel, EV, Sacilotto, L, Semsarian, C, Sheppard, MN, Shimizu, W, Skinner, JR, Tfelt-Hansen, J & Wang, DW 2021, ‘2020 APHRS/HRS expert consensus statement on the investigation of decedents with sudden unexplained death and patients with sudden cardiac arrest, and of their families’, Journal of arrhythmia, vol. 37, no. 3, pp. 481-534. https://doi.org/10.1002/joa3.12449

van Dijk, T, Kater, A, Jansen, M, Dondorp, WJ, Blom, M, Kemp, S, Langeveld, M, Cornel, MC, van der Pal, SM & Henneman, L 2021, ‘Expanding Neonatal Bloodspot Screening: A Multi-Stakeholder Perspective’, Frontiers in Pediatrics, vol. 9, 706394. https://doi.org/10.3389/fped.2021.706394, https://doi.org/10.3389/fped.2021.706394

Wouters, RHP, van der Graaf, R, Rigter, T, Bunnik, EM, Ploem, MC, de Wert, GMWR, Dondorp, WJ, Cornel, MC & Bredenoord, AL 2021, ‘Towards a Responsible Transition to Learning Healthcare Systems in Precision Medicine: Ethical Points to Consider’, Journal of personalized medicine, vol. 11, no. 6, 539. https://doi.org/10.3390/jpm11060539

Cornel, MC, Rigter, T, Jansen, ME & Henneman, L 2021, ‘Neonatal and carrier screening for rare diseases: how innovation challenges screening criteria worldwide’, Journal of Community Genetics, vol. 12, no. 2, pp. 257-265. https://doi.org/10.1007/s12687-020-00488-y, https://doi.org/10.1007/s12687-020-00488-y

de Groot-van der Mooren, M, de Graaf, G, Weijerman, ME, Hoffer, MJV, Knijnenburg, J, van der Kevie-Kersemaekers, A-MMF, Kooper, AJA, Voorhoeve, E, Sikkema-Raddatz, B, van Zutven, LJCM, Srebniak, MI, Huijsdens-van Amsterdam, K, Engelen, JJM, Smeets, D, van Kaam, AH & Cornel, MC 2021, ‘Does non-invasive prenatal testing affect the livebirth prevalence of Down syndrome in the Netherlands? A population-based register study’, Prenatal Diagnosis, vol. 41, no. 10, pp. 1351-1359. https://doi.org/10.1002/pd.6003, https://doi.org/10.1002/pd.6003

On behalf of the European Society of Human Genetics 2021, ‘Opportunistic genomic screening. Recommendations of the European Society of Human Genetics’, European Journal of Human Genetics, vol. 29, no. 3, pp. 365-377. https://doi.org/10.1038/s41431-020-00758-w, https://doi.org/10.1038/s41431-020-00758-w

Jansen, ME, Klein, AW, Buitenhuis, EC, Rodenburg, W & Cornel, MC 2021, ‘Expanded Neonatal Bloodspot Screening Programmes: An Evaluation Framework to Discuss New Conditions With Stakeholders’, Frontiers in Pediatrics, vol. 9, 635353. https://doi.org/10.3389/fped.2021.635353, https://doi.org/10.3389/fped.2021.635353

Rigter, T, Klein, D, Weinreich, SS & Cornel, MC 2021, ‘Moving somatic gene editing to the clinic: routes to market access and reimbursement in Europe’, European Journal of Human Genetics, vol. 29, no. 10, pp. 1477-1484. https://doi.org/10.1038/s41431-021-00877-y

The Dutch NIPT Consortium 2021, ‘Uptake of fetal aneuploidy screening after the introduction of the non-invasive prenatal test: A national population-based register study’, Acta Obstetricia et Gynecologica Scandinavica, vol. 100, no. 7, pp. 1265-1272. https://doi.org/10.1111/aogs.14091, https://doi.org/10.1111/aogs.14091

van Dijke, I, Lakeman, P, Mathijssen, IB, Goddijn, M, Cornel, MC & Henneman, L 2021, ‘How will new genetic technologies, such as gene editing, change reproductive decision-making? Views of high-risk couples’, European Journal of Human Genetics, vol. 29, no. 1, pp. 39-50. https://doi.org/10.1038/s41431-020-00706-8

van Dijke, I, Lakeman, P, Sabiri, N, Rusticus, H, Ottenheim, CPE, Mathijssen, IB, Cornel, MC & Henneman, L 2021, ‘Couples’ experiences with expanded carrier screening: evaluation of a university hospital screening offer’, European Journal of Human Genetics, vol. 29, no. 8, pp. 1252-1258. https://doi.org/10.1038/s41431-021-00923-9, https://doi.org/10.1038/s41431-021-00923-9

van Dijke, I, van Wely, M, Berkman, BE, Bredenoord, AL, Henneman, L, Vliegenthart, R, Repping, S & Hendriks, S 2021, ‘Should germline genome editing be allowed? The effect of treatment characteristics on public acceptability’, Human reproduction (Oxford, England), vol. 36, no. 2, pp. 465-478. https://doi.org/10.1093/humrep/deaa212

Becking, EC, Wirjosoekarto, SAM, Scheffer, PG, Huiskes, JVM, Remmelink, MJ, Sistermans, EA, Bax, CJ, Weiss, JM, Henneman, L & Bekker, MN 2021, ‘Low fetal fraction in cell-free DNA testing is associated with adverse pregnancy outcome: Analysis of a subcohort of the TRIDENT-2 study: analysis of a subcohort of the TRIDENT-2 study’, Prenatal Diagnosis, vol. 41, no. 10, pp. 1296-1304. https://doi.org/10.1002/pd.6034, https://doi.org/10.1002/pd.6034

on behalf of the SONNET-Study Group 2021, ‘Parents’ Perspectives and Societal Acceptance of Implementation of Newborn Screening for SCID in the Netherlands’, Journal of clinical immunology, vol. 41, no. 1, pp. 99-108. https://doi.org/10.1007/s10875-020-00886-4

Conijn, T, Nijmeijer, SCM, Lakeman, P, Henneman, L, Wijburg, FA & Haverman, L 2021, ‘Preconception expanded carrier screening: Impact of information presented by text or video on genetic knowledge and attitudes’, Journal of Genetic Counseling, vol. 30, no. 2, pp. 457-469. https://doi.org/10.1002/jgc4.1332

Conijn, T, van Dijke, I, Haverman, L, Lakeman, P, Wijburg, FA & Henneman, L 2021, ‘Preconception expanded carrier screening: a focus group study with relatives of mucopolysaccharidosis type III patients and the general population’, Journal of Community Genetics, vol. 12, no. 3, pp. 311-323. https://doi.org/10.1007/s12687-021-00519-2

Hussein, N, Henneman, L, Kai, J & Qureshi, N 2021, ‘Preconception risk assessment for thalassaemia, sickle cell disease, cystic fibrosis and Tay-Sachs disease’, Cochrane Database of Systematic Reviews, vol. 2021, no. 10, CD010849. https://doi.org/10.1002/14651858.CD010849.pub4

Ijzebrink, A, van Dijk, T, Franková, VR, Loeber, G, Kožich, V, Henneman, L & Jansen, M 2021, ‘Informing parents about newborn screening: A European Comparison Study’, International journal of neonatal screening, vol. 7, no. 1, 13. https://doi.org/10.3390/ijns7010013, https://doi.org/10.3390/ijns7010013

Olde Keizer, RACM, Henneman, L, Ploos van Amstel, JK, Vissers, LELM & Frederix, GWJ 2021, ‘Economic evaluations of exome and genome sequencing in pediatric genetics: considerations towards a consensus strategy’, Journal of Medical Economics, vol. 24, no. S1, pp. 60-70. https://doi.org/10.1080/13696998.2021.2009725

Ravitsky, V, Roy, M-C, Haidar, H, Henneman, L, Marshall, J, Newson, AJ, Ngan, OMY & Nov-Klaiman, T 2021, ‘The Emergence and Global Spread of Noninvasive Prenatal Testing’, Annual review of genomics and human genetics, vol. 22, pp. 309-338. https://doi.org/10.1146/annurev-genom-083118-015053

Scheffer, PG, Wirjosoekarto, SAM, Becking, EC, Weiss, MM, Bax, CJ, Oepkes, D, Sistermans, EA, Henneman, L & Bekker, MN 2021, ‘Association between low fetal fraction in cell-free DNA testing and adverse pregnancy outcome: A systematic review: A systematic review’, Prenatal Diagnosis, vol. 41, no. 10, pp. 1287-1295. https://doi.org/10.1002/pd.6028, https://doi.org/10.1002/pd.6028

van der Meij, KRM, Kooij, C, Bekker, MN, Galjaard, R-JH, Henneman, L & Dutch NIPT Consortium 2021, ‘Non-invasive prenatal test uptake in socioeconomically disadvantaged neighborhoods’, Prenatal Diagnosis, vol. 41, no. 11, pp. 1395-1400. https://doi.org/10.1002/pd.6043

The Dutch NIPT Consortium 2021, ‘Uptake of fetal aneuploidy screening after the introduction of the non-invasive prenatal test: A national population-based register study’, Acta Obstetricia et Gynecologica Scandinavica, vol. 100, no. 7, pp. 1265-1272. https://doi.org/10.1111/aogs.14091, https://doi.org/10.1111/aogs.14091

van Dijk, T, Kater, A, Jansen, M, Dondorp, WJ, Blom, M, Kemp, S, Langeveld, M, Cornel, MC, van der Pal, SM & Henneman, L 2021, ‘Expanding Neonatal Bloodspot Screening: A Multi-Stakeholder Perspective’, Frontiers in Pediatrics, vol. 9, 706394. https://doi.org/10.3389/fped.2021.706394, https://doi.org/10.3389/fped.2021.706394

Verberne, EA, Ecury-Goossen, GM, Manshande, ME, Ponson-Wever, M, de Vroomen, M, Tilanus, M, Mannens, MMAM, Henneman, L & van Haelst, MM 2021, ‘Clinical and community genetics services in the Dutch Caribbean’, Journal of Community Genetics, vol. 12, no. 3, pp. 497-501. https://doi.org/10.1007/s12687-021-00515-6, https://doi.org/10.1007/s12687-021-00515-6

Members of the European Society of Human Genetics (ESHG)-EuroGentest Quality Sub-Committee 2021, ‘Regulatory landscape of providing information on newborn screening to parents across Europe’, European Journal of Human Genetics, vol. 29, no. 1, pp. 67-78. https://doi.org/10.1038/s41431-020-00716-6

Jansen, ME, Klein, AW, Buitenhuis, EC, Rodenburg, W & Cornel, MC 2021, ‘Expanded Neonatal Bloodspot Screening Programmes: An Evaluation Framework to Discuss New Conditions With Stakeholders’, Frontiers in Pediatrics, vol. 9, 635353. https://doi.org/10.3389/fped.2021.635353, https://doi.org/10.3389/fped.2021.635353

Grijpma, JW, de la Croix, A, Kleinveld, JH, Meeter, M & Kusurkar, RA 2021, ‘Appreciating small-group active learning: What do medical students want, and why? A Q-methodology study’, Medical Teacher, vol. 43, no. 4, pp. 411-420. https://doi.org/10.1080/0142159X.2020.1854705

Vrijenhoek, T, Tonisson, N, Kääriäinen, H, Leitsalu, L & Rigter, T 2021, ‘Clinical genetics in transition—a comparison of genetic services in Estonia, Finland, and the Netherlands’, Journal of Community Genetics, vol. 12, no. 2, pp. 277-290. https://doi.org/10.1007/s12687-021-00514-7

Wouters, RHP, van der Graaf, R, Rigter, T, Bunnik, EM, Ploem, MC, de Wert, GMWR, Dondorp, WJ, Cornel, MC & Bredenoord, AL 2021, ‘Towards a Responsible Transition to Learning Healthcare Systems in Precision Medicine: Ethical Points to Consider’, Journal of personalized medicine, vol. 11, no. 6, 539. https://doi.org/10.3390/jpm11060539

van den Heuvel, LM, Maeckelberghe, ELM, Ploem, MC & Christiaans, I 2021, ‘A genetic researcher’s devil’s dilemma: Warn relatives about their genetic risk or respect confidentiality agreements with research participants?’, BMC Medical Ethics, vol. 22, no. 1, 155. https://doi.org/10.1186/s12910-021-00721-4

van der Meij, KRM, Kooij, C, Bekker, MN, Galjaard, R-JH, Henneman, L & Dutch NIPT Consortium 2021, ‘Non-invasive prenatal test uptake in socioeconomically disadvantaged neighborhoods’, Prenatal Diagnosis, vol. 41, no. 11, pp. 1395-1400. https://doi.org/10.1002/pd.6043

The Dutch NIPT Consortium 2021, ‘Uptake of fetal aneuploidy screening after the introduction of the non-invasive prenatal test: A national population-based register study’, Acta Obstetricia et Gynecologica Scandinavica, vol. 100, no. 7, pp. 1265-1272. https://doi.org/10.1111/aogs.14091, https://doi.org/10.1111/aogs.14091

Woudstra, A, Dondorp, W & de Wert, G 2021, ‘Stakeholder views on opportunistic genomic screening in the Netherlands: a qualitative study’, European Journal of Human Genetics, vol. 29, no. 6, pp. 949-956. https://doi.org/10.1038/s41431-021-00828-7

Schmidtke, J & Cornel, MC 2020, ‘Contentious ethical issues in community genetics: let’s talk about them’, Journal of Community Genetics, vol. 11, no. 1, pp. 5-6. https://doi.org/10.1007/s12687-019-00444-5

Schmidtke, J & Cornel, MC 2020, ‘A new decade of community genetics: old and new challenges’, Journal of Community Genetics, vol. 11, no. 1. https://doi.org/10.1007/s12687-019-00448-1

Saez, C & Blom, F 2020 ‘Research environment: Research integrity protects the reputation and careers of researchers and organizations’ Ethical Researcher series, no. grant agreement No 824488, European Union.

Blom, F, van der Schot, D, Tijdink, JK & Bouter, LM 2020, ‘Development of a checklist to assess and classify initiatives that foster responsible research practices – results from the INSPIRE project’, REWARD | EQUATOR Conference 2020, Berlin, Germany, 20/02/2020 – 22/02/2020. https://doi.org/10.5281/zenodo.4294747

Blom, F, INSPIRE Checklist for the development and implementation of initiatives to foster responsible research practices, 2020, Design. https://doi.org/10.5281/zenodo.3660248

van der Schot, D, Blom, F & Bouter, LM 2020, ‘A systematic inventory of best practices for fostering research integrity – results from the INSPIRE project’, REWARD | EQUATOR Conference 2020, Berlin, Germany, 20/02/2020 – 22/02/2020.

Rigter, T, Jansen, ME, de Wert, GMWR & Cornel, MC 2020, ‘Opportunistic screening for actionable pharmacogenetic variants: why not apply knowledge to patient-data that is already available?’, European Journal of Human Genetics, vol. 28, no. SUPPL 1, pp. 792-793.

Bakkeren, IM, Henneman, L, Bekker, MN, van Vliet-Lachotzki, EH & Galjaard, RH 2020, ‘The psychological impact of receiving an incidental finding with Non-Invasive Prenatal Testing (NIPT)’, European Journal of Human Genetics, vol. 28, no. SUPPL 1, pp. 792-792.

Alves, TL, Jansen, ME, Hoebee, B & Rodenburg, W 2020, ‘International mapping of national genomics initiatives’, European Journal of Human Genetics, vol. 28, no. SUPPL 1, pp. 686-686.

Delatycki, MB, Alkuraya, F, Archibald, A, Castellani, C, Cornel, M, Grody, WW, Henneman, L, Ioannides, AS, Kirk, E, Laing, N, Lucassen, A, Massie, J, Schuurmans, J, Thong, M-K, van Langen, I & Zlotogora, J 2020, ‘International perspectives on the implementation of reproductive carrier screening’, Prenatal Diagnosis, vol. 40, no. 3, pp. 301-310. https://doi.org/10.1002/pd.5611

Fellmann, F, Rial-Sebbag, E, Patch, C, Hentze, S, Stefandottir, V, Mendes, A, van El, CG, Cornel, M, Forzano, F, Clarke, A, Cordier, C, Howard, H, Kayserili, H, Melegh, B, Perola, M, Radojkovic, D & de Wert, G 2020, ‘ESHG PPPC Comments on postmortem use of genetic data for research purposes’, European Journal of Human Genetics, vol. 28, no. 2, pp. 144-146. https://doi.org/10.1038/s41431-019-0525-z

Boccia, S, Pastorino, R, Ricciardi, W, Ádány, RZ, Barnhoorn, F, Boffetta, P, Cornel, MC, de Vito, C, Gray, M, Jani, A, Lang, M, Roldan, J, Rosso, A, Sánchez, JM, van Dujin, CM, van El, CG, Villari, P & Zawati, MNH 2020, ‘How to Integrate Personalized Medicine into Prevention? Recommendations from the Personalized Prevention of Chronic Diseases (PRECeDI) Consortium’, Public Health Genomics, vol. 22, no. 5-6, pp. 208-214. https://doi.org/10.1159/000504652

Damman, OC, Jani, A, de Jong, BA, Becker, A, Metz, MJ, de Bruijne, MC, Timmermans, DR, Cornel, MC, Ubbink, DT, van der Steen, M, Gray, M & van El, C 2020, ‘The use of PROMs and shared decision-making in medical encounters with patients: An opportunity to deliver value-based health care to patients’, Journal of Evaluation in Clinical Practice, vol. 26, no. 2, pp. 524-540. https://doi.org/10.1111/jep.13321

Goekoop, FM, Van El, CG, Widdershoven, GAM, Dzinalija, N, Cornel, MC & Evans, N 2020, ‘Systematic scoping review of the concept of ‘genetic identity’ and its relevance for germline modification’, PLoS ONE, vol. 15, no. 1, e0228263. https://doi.org/10.1371/journal.pone.0228263, https://doi.org/10.1371/journal.pone.0228263

Martens, FK, Huntjens, DW, Rigter, T, Bartels, M, Bet, PM & Cornel, MC 2020, ‘DPD testing before treatment with fluoropyrimidines in the Amsterdam UMCs: An evaluation of current pharmacogenetic practice’, Frontiers in Pharmacology, vol. 10, 1609. https://doi.org/10.3389/fphar.2019.01609, https://doi.org/10.3389/fphar.2019.01609

Rigter, T, Jansen, ME, Groot, JMD, Janssen, SWJ, Rodenburg, W & Cornel, MC 2020, ‘Implementation of Pharmacogenetics in Primary Care: A Multi-Stakeholder Perspective’, Frontiers in Genetics, vol. 11, 10. https://doi.org/10.3389/fgene.2020.00010, https://doi.org/10.3389/fgene.2020.00010

Bekker, MN, Henneman, L, Macville, MVE, Sistermans, EA & Galjaard, RJH 2020, ‘Benefit vs potential harm of genome-wide prenatal cfDNA testing requires further investigation and should not be dismissed based on current data’, Ultrasound in obstetrics & gynecology : the official journal of the International Society of Ultrasound in Obstetrics and Gynecology, vol. 55, no. 5, pp. 695-696. https://doi.org/10.1002/uog.22030

Henneman, L, van Asperen, CJ, Oosterwijk, JC, Menko, FH, Claassen, L & Timmermans, DRM 2020, ‘Do preferred risk formats lead to better understanding? A multicenter controlled trial on communicating familial breast cancer risks using different risk formats’, Patient Preference and Adherence, vol. 14, pp. 333-342. https://doi.org/10.2147/PPA.S232941

Jansen, CH, de Vries, JM, Engels, M, van de Kamp, K, Snijders, RJ, Martin, L, Henneman, L & Pajkrt, E 2020, ‘Effect of education and attitude on health professionals’ knowledge on prenatal screening’, European journal of midwifery, vol. 4, pp. 38. https://doi.org/10.18332/ejm/126626

Kleinendorst, L, van den Heuvel, LM, Henneman, L & van Haelst, MM 2020, ‘Who ever heard of 16p11.2 deletion syndrome? Parents’ perspectives on a susceptibility copy number variation syndrome’, European Journal of Human Genetics, vol. 28, no. 9, pp. 1196-1204. https://doi.org/10.1038/s41431-020-0644-6

Nijmeijer, SCM, Conijn, T, Lakeman, P, Henneman, L, Wijburg, FA & Haverman, L 2020, ‘Attitudes of relatives of mucopolysaccharidosis type III patients toward preconception expanded carrier screening’, European Journal of Human Genetics, vol. 28, no. 10, pp. 1331-1340. https://doi.org/10.1038/s41431-020-0648-2

Naber, SK, Kundu, S, Kuntz, KM, Dotson, WD, Williams, MS, Zauber, AG, Calonge, N, Zallen, DT, Ganiats, TG, Webber, EM, Goddard, KAB, Henrikson, NB, Van Ballegooijen, M, Janssens, ACJW & Lansdorp-Vogelaar, I 2020, ‘Cost-effectiveness of risk-stratified colorectal cancer screening based on polygenic risk: Current status and future potential’, JNCI Cancer Spectrum, vol. 4, no. 1, pkz086. https://doi.org/10.1093/jncics/pkz086

Kater-Kuipers, A, de Beaufort, ID, Galjaard, R-JH & Bunnik, EM 2020, ‘Rethinking counselling in prenatal screening: An ethical analysis of informed consent in the context of non-invasive prenatal testing (NIPT)’, Bioethics, vol. 34, no. 7, pp. 671-678. https://doi.org/10.1111/bioe.12760

Janssens, ACJW & Martens, FK 2020, ‘Reflection on modern methods: Revisiting the area under the ROC Curve’, International Journal of Epidemiology, vol. 49, no. 4, pp. 1397-1403. https://doi.org/10.1093/ije/dyz274

Jansen, SMA, van den Heuvel, L, Meijboom, LJ, Alsters, SIM, Vonk Noordegraaf, A, Houweling, AC & Bogaard, HJ 2020, ‘Correspondence regarding “T-box protein 4 mutation causing pulmonary arterial hypertension and lung disease”: a single-centre case series’, European Respiratory Journal, vol. 55, no. 5, 1902272. https://doi.org/10.1183/13993003.02272-2019

van den Heuvel, LM, Jansen, SMA, Alsters, SIM, Post, MC, van der Smagt, JJ, Handoko-De Man, FS, Peter van Tintelen, J, Gille, H, Christiaans, I, Vonk Noordegraaf, A, Bogaard, H & Houweling, AC 2020, ‘Genetic evaluation in a cohort of 126 dutch pulmonary arterial hypertension patients’, Genes, vol. 11, no. 10, 1191, pp. 1-12. https://doi.org/10.3390/genes11101191

Stefansdottir, V, Thorolfsdottir, E, Hognason, HB, Patch, C, van El, C, Hentze, S, Cordier, C, Mendes, Á & Jonsson, JJ 2020, ‘Web-based return of BRCA2 research results: one-year genetic counselling experience in Iceland’, European Journal of Human Genetics, vol. 28, no. 12, pp. 1656-1661. https://doi.org/10.1038/s41431-020-0665-1

van der Meij, KRM, Bekker, MN, Gitsels-van der Wal, JT, Martin, L, van Vliet-Lachotzki, EH, Timmermans, DRM, Galjaard, RH, Sistermans, EA & Henneman, L 2019, ‘National implementation of genome- wide non-invasive prenatal testing as a first-tier screening test in the Netherlands: evaluation of women’s perspectives’, European Journal of Human Genetics, vol. 27, pp. 1099-1100.

Weiss, MM, Galjaard, RH, Sistermans, EA, Bax, CJ, Bekker, MN, de Die-Smulders, CEM, Feenstra, I, Hoffer, MJV, den Hollander, NS, Knapen, MFCM, van Langen, IM, Lichtenbelt, KD, Lombardi, PM, van Maarle, MC, van der Meij, KRM, Pieters, MJ, Schuring-Blom, GH, Sikkel, E, Stevens, SJ, Suijkerbuijk, RF, van der Ven, AJEM, Van Opstal, D, Henneman, L & Macville, MV 2019, ‘Implementing NIPT as part of a national prenatal screening program: The Dutch TRIDENT studies’, European Journal of Human Genetics, vol. 27, pp. 823-824.

van Dijke, I, Lakeman, P, Mathijssen, IB, Cornel, MC & Henneman, L 2019, ‘How will new reproductive genetic technologies change genetically at-risk couples’ reproductive decision making? Views on NIPD and gene modification’, European Journal of Human Genetics, vol. 27, pp. 1098-1099.

van Dijke, I, Bosch, L, Bredenord, AL, Cornel, M, Repping, S & Hendriks, S 2019, ‘The ethics of clinical applications of germline genome modification:a systematic review of reasons’, European Journal of Human Genetics, vol. 27, pp. 689-689.

Blom, F & Haven, TL 2019, ‘De waarde(n) van wetenschappelijke-integriteitsonderwijs’, Dutch Journal of Epidemiology (Epistel), pp. 10-12.

Jansen, PR, Broeders, MJM, Cornel, MC & Meijers-Heijboer, H 2019, ‘Polygenetische risicopredictie van veelvoorkomende ziekten: Van epidemiologie naar klinische toepassing’, Nederlands Tijdschrift voor Geneeskunde, vol. 163, no. 40.

Cornel, MC, Ploem, C & Gevers, JKM 2019, ‘Commercieel aanbod van DNA-tests: Ruim baan voor vrije markt en zelfbeschikking?’, Nederlands Juristenblad, vol. 32, pp. 2364-2371.

van Dijke, I & van El, CG 2019, ‘Kiembaanmodificatie: een medisch ethisch perspectief op paren met een kinderwens’, Nederlandse Vereniging voor Bio-ethiek (NVBe), vol. 26, no. 1, Jaargang 26, nummer 1, pp. 5-7.

van Dijke, I & van El, CG 2019, ‘Kiembaanmodificatie: een medisch ethisch perspectief op paren met een kinderwens’, Nederlandse Vereniging voor Bio-ethiek (NVBe), vol. 26, no. 1, Jaargang 26, nummer 1, pp. 5-7.

Dombrádi, V, Pitini, E, van El, CG, Jani, A, Cornel, M, Villari, P, Gray, M & Bíró, K 2019, ‘Value-based genomic screening: exploring genomic screening for chronic diseases using triple value principles’, BMC Health Services Research, vol. 19, no. 1, 823, pp. 823. https://doi.org/10.1186/s12913-019-4703-z

Carrieri, D, Howard, HC, Benjamin, C, Clarke, AJ, Dheensa, S, Doheny, S, Hawkins, N, Halbersma-Konings, TF, Jackson, L, Kayserili, H, Kelly, SE, Lucassen, AM, Mendes, Á, Rial-Sebbag, E, Stefánsdóttir, V, Turnpenny, PD, van El, CG, van Langen, IM, Cornel, MC, Forzano, F & European Society of Human Genetics 2019, ‘Recontacting patients in clinical genetics services: recommendations of the European Society of Human Genetics’, European Journal of Human Genetics, vol. 27, no. 2, pp. 169-182. https://doi.org/10.1038/s41431-018-0285-1

Cornel, MC 2019, ‘Evidence-Based Genetic Education of Non-Genetic-Expert Physicians: Experiences Over Three Decades in Amsterdam’, Frontiers in Genetics, vol. 10, no. JUL, 712, pp. 712. https://doi.org/10.3389/fgene.2019.00712

Friedman, JM, Bombard, Y, Cornel, MC, Fernandez, CV, Junker, AK, Plon, SE, Stark, Z, Knoppers, BM & Paediatric Task Team of the Global Alliance for Genomics and Health Regulatory and Ethics Work Stream 2019, ‘Genome-wide sequencing in acutely ill infants: genomic medicine’s critical application?’, Genetics in Medicine, vol. 21, no. 2, pp. 498-504. https://doi.org/10.1038/s41436-018-0055-z

Jackson, L, O’Connor, A, Paneque, M, Curtisova, V, Lunt, PW, Pourova, RK, Macek, M, Stefansdottir, V, Turchetti, D, Campos, M, Henneman, L, Godino, L, Skirton, H & Cornel, MC 2019, ‘The Gen-Equip Project: evaluation and impact of genetics e-learning resources for primary care in six European languages’, Genetics in Medicine, vol. 21, no. 3, pp. 718-726. https://doi.org/10.1038/s41436-018-0132-3

Carrieri, D, Howard, HC, Clarke, AJ, Stefansdottir, V, Cornel, MC, van El, CG & Forzano, F 2019, ‘Reply to Bombard and Mighton’, European Journal of Human Genetics, vol. 27, no. 4, pp. 507-508. https://doi.org/10.1038/s41431-018-0315-z

Cornel, MC, Howard, HC, Lim, D, Bonham, VL & Wartiovaara, K 2019, ‘Moving towards a cure in genetics: what is needed to bring somatic gene therapy to the clinic?’, European Journal of Human Genetics, vol. 27, no. 3, pp. 484-487. https://doi.org/10.1038/s41431-018-0309-x

Fellmann, F, van El, CG, Charron, P, Michaud, K, Howard, HC, Boers, SN, Clarke, AJ, Duguet, AM, Forzano, F, Kauferstein, S, Kayserili, H, Lucassen, A, Mendes, Á, Patch, C, Radojkovic, D, Rial-Sebbag, E, Sheppard, MN, Tassé, AM, Temel, SG, Sajantila, A, Basso, C, Wilde, AAM, Cornel, MC &  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, ‘European recommendations integrating genetic testing into multidisciplinary management of sudden cardiac death’, European Journal of Human Genetics, vol. 27, no. 12, pp. 1763-1773. https://doi.org/10.1038/s41431-019-0445-y, https://doi.org/10.1038/s41431-019-0445-y

Holtkamp, KCA, Henneman, L, Gille, JJP, Meijers-Heijboer, H, Cornel, MC & Lakeman, P 2019, ‘Direct-to-consumer carrier screening for cystic fibrosis via a hospital website: a 6-year evaluation’, Journal of Community Genetics, vol. 10, no. 2, pp. 249-257. https://doi.org/10.1007/s12687-018-0388-y

Blom, M, Schoenaker, MHD, Hulst, M, de Vries, MC, Weemaes, CMR, Willemsen, MAAP, Henneman, L & van der Burg, M 2019, ‘Dilemma of Reporting Incidental Findings in Newborn Screening Programs for SCID: Parents’ Perspective on Ataxia Telangiectasia’, Frontiers in Immunology, vol. 10, 2438. https://doi.org/10.3389/fimmu.2019.02438

Holtkamp, KCA, Henneman, L, Gille, JJP, Meijers-Heijboer, H, Cornel, MC & Lakeman, P 2019, ‘Direct-to-consumer carrier screening for cystic fibrosis via a hospital website: a 6-year evaluation’, Journal of Community Genetics, vol. 10, no. 2, pp. 249-257. https://doi.org/10.1007/s12687-018-0388-y

Jackson, L, O’Connor, A, Paneque, M, Curtisova, V, Lunt, PW, Pourova, RK, Macek, M, Stefansdottir, V, Turchetti, D, Campos, M, Henneman, L, Godino, L, Skirton, H & Cornel, MC 2019, ‘The Gen-Equip Project: evaluation and impact of genetics e-learning resources for primary care in six European languages’, Genetics in Medicine, vol. 21, no. 3, pp. 718-726. https://doi.org/10.1038/s41436-018-0132-3

Nijmeijer, SCM, Conijn, T, Lakeman, P, Henneman, L, Wijburg, FA & Haverman, L 2019, ‘Attitudes of the general population towards preconception expanded carrier screening for autosomal recessive disorders including inborn errors of metabolism’, Molecular Genetics and Metabolism, vol. 126, no. 1, pp. 14-22. https://doi.org/10.1016/j.ymgme.2018.12.004

van den Heuvel, LM, Huisinga, MJ, Hoedemaekers, YM, Baas, AF, Plantinga, M, Henneman, L, van Tintelen, JP, Smets, EMA & Christiaans, I 2019, ‘Informing relatives at risk of inherited cardiac conditions: experiences and attitudes of healthcare professionals and counselees’, European Journal of Human Genetics, vol. 27, no. 9, pp. 1341-1350. https://doi.org/10.1038/s41431-019-0410-9

van der Meij, KRM, Sistermans, EA, Macville, MVE, Stevens, SJC, Bax, CJ, Bekker, MN, Bilardo, CM, Boon, EMJ, Boter, M, Diderich, KEM, de Die-Smulders, CEM, Duin, LK, Faas, BHW, Feenstra, I, Haak, MC, Hoffer, MJV, den Hollander, NS, Hollink, IHIM, Jehee, FS, Knapen, MFCM, Kooper, AJA, van Langen, IM, Lichtenbelt, KD, Linskens, IH, van Maarle, MC, Oepkes, D, Pieters, MJ, Schuring-Blom, GH, Sikkel, E, Sikkema-Raddatz, B, Smeets, DFCM, Srebniak, MI, Suijkerbuijk, RF, Tan-Sindhunata, GM, van der Ven, AJEM, van Zelderen-Bhola, SL, Henneman, L, Galjaard, RJH, Van Opstal, D, Weiss, MM & The Dutch NIPT Consortium 2019, ‘TRIDENT-2: National Implementation of Genome-wide Non-invasive Prenatal Testing as a First-Tier Screening Test in the Netherlands’, American journal of human genetics, vol. 105, no. 6, pp. 1091-1101. https://doi.org/10.1016/j.ajhg.2019.10.005

Vollgraff Heidweiller-Schreurs, CA, de Boer, MA, van der Meij, KRM, Bax, CJ, de Groot, CJM & Henneman, L 2019, ‘Women’s experiences of monitoring the small-for-gestational age fetus by ultrasound: A qualitative study’, PLoS ONE, vol. 14, no. 5, pp. e0216052. https://doi.org/10.1371/journal.pone.0216052

Jansen, ME, Van Den Bosch, LJM, Hendriks, MJ, Scheffer, MMJ, Heijnen, ML, Douglas, CMW & Van El, CG 2019, ‘Parental perspectives on retention and secondary use of neonatal dried bloodspots: A Dutch mixed methods study’, BMC Pediatrics, vol. 19, no. 1, 230. https://doi.org/10.1186/s12887-019-1590-8

Martens, FK, Tonk, ECM & Janssens, ACJW 2019, ‘Evaluation of polygenic risk models using multiple performance measures: a critical assessment of discordant results’, Genetics in Medicine, vol. 21, no. 2, pp. 391-397. https://doi.org/10.1038/s41436-018-0058-9

Martens, FK & Janssens, ACJW 2019, ‘How the Intended Use of Polygenic Risk Scores Guides the Design and Evaluation of Prediction Studies’, Current Epidemiology Reports, vol. 6, no. 2, pp. 184-190. https://doi.org/10.1007/s40471-019-00203-7

van den Heuvel, LM, Huisinga, MJ, Hoedemaekers, YM, Baas, AF, Plantinga, M, Henneman, L, van Tintelen, JP, Smets, EMA & Christiaans, I 2019, ‘Informing relatives at risk of inherited cardiac conditions: experiences and attitudes of healthcare professionals and counselees’, European Journal of Human Genetics, vol. 27, no. 9, pp. 1341-1350. https://doi.org/10.1038/s41431-019-0410-9

van den Heuvel, LM, Hoedemaekers, YM, Baas, AF, van Tintelen, JP, Smets, EMA & Christiaans, I 2019, ‘A tailored approach towards informing relatives at risk of inherited cardiac conditions: Study protocol for a randomised controlled trial’, BMJ Open, vol. 9, no. 7, e025660. https://doi.org/10.1136/bmjopen-2018-025660

van den Heuvel, LM, Smets, EMA, van Tintelen, JP & Christiaans, I 2019, ‘How to inform relatives at risk of hereditary diseases? A mixed-methods systematic review on patient attitudes’, Journal of Genetic Counseling, vol. 28, no. 5, pp. 1042-1058. https://doi.org/10.1002/jgc4.1143

Vollgraff Heidweiller-Schreurs, CA, de Boer, MA, van der Meij, KRM, Bax, CJ, de Groot, CJM & Henneman, L 2019, ‘Women’s experiences of monitoring the small-for-gestational age fetus by ultrasound: A qualitative study’, PLoS ONE, vol. 14, no. 5, pp. e0216052. https://doi.org/10.1371/journal.pone.0216052

van der Meij, KRM, Sistermans, EA, Macville, MVE, Stevens, SJC, Bax, CJ, Bekker, MN, Bilardo, CM, Boon, EMJ, Boter, M, Diderich, KEM, de Die-Smulders, CEM, Duin, LK, Faas, BHW, Feenstra, I, Haak, MC, Hoffer, MJV, den Hollander, NS, Hollink, IHIM, Jehee, FS, Knapen, MFCM, Kooper, AJA, van Langen, IM, Lichtenbelt, KD, Linskens, IH, van Maarle, MC, Oepkes, D, Pieters, MJ, Schuring-Blom, GH, Sikkel, E, Sikkema-Raddatz, B, Smeets, DFCM, Srebniak, MI, Suijkerbuijk, RF, Tan-Sindhunata, GM, van der Ven, AJEM, van Zelderen-Bhola, SL, Henneman, L, Galjaard, RJH, Van Opstal, D, Weiss, MM & The Dutch NIPT Consortium 2019, ‘TRIDENT-2: National Implementation of Genome-wide Non-invasive Prenatal Testing as a First-Tier Screening Test in the Netherlands’, American journal of human genetics, vol. 105, no. 6, pp. 1091-1101. https://doi.org/10.1016/j.ajhg.2019.10.005

Evans, N, Metselaar, S, van El, C, Hallowell, N & Widdershoven, G 2019, ‘How should decision aids be used during counseling to help patients who are “genetically at risk”?’, AMA Journal of Ethics, vol. 21, no. 10, pp. 865-872. https://doi.org/10.1001/amajethics.2019.865

Carrieri, D, Howard, HC, Benjamin, C, Clarke, AJ, Dheensa, S, Doheny, S, Hawkins, N, Halbersma-Konings, TF, Jackson, L, Kayserili, H, Kelly, SE, Lucassen, AM, Mendes, Á, Rial-Sebbag, E, Stefánsdóttir, V, Turnpenny, PD, van El, CG, van Langen, IM, Cornel, MC, Forzano, F & European Society of Human Genetics 2019, ‘Recontacting patients in clinical genetics services: recommendations of the European Society of Human Genetics’, European Journal of Human Genetics, vol. 27, no. 2, pp. 169-182. https://doi.org/10.1038/s41431-018-0285-1

Dombrádi, V, Pitini, E, van El, CG, Jani, A, Cornel, M, Villari, P, Gray, M & Bíró, K 2019, ‘Value-based genomic screening: exploring genomic screening for chronic diseases using triple value principles’, BMC Health Services Research, vol. 19, no. 1, 823, pp. 823. https://doi.org/10.1186/s12913-019-4703-z

Carrieri, D, Howard, HC, Clarke, AJ, Stefansdottir, V, Cornel, MC, van El, CG & Forzano, F 2019, ‘Reply to Bombard and Mighton’, European Journal of Human Genetics, vol. 27, no. 4, pp. 507-508. https://doi.org/10.1038/s41431-018-0315-z

Fellmann, F, van El, CG, Charron, P, Michaud, K, Howard, HC, Boers, SN, Clarke, AJ, Duguet, AM, Forzano, F, Kauferstein, S, Kayserili, H, Lucassen, A, Mendes, Á, Patch, C, Radojkovic, D, Rial-Sebbag, E, Sheppard, MN, Tassé, AM, Temel, SG, Sajantila, A, Basso, C, Wilde, AAM, Cornel, MC &  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, ‘European recommendations integrating genetic testing into multidisciplinary management of sudden cardiac death’, European Journal of Human Genetics, vol. 27, no. 12, pp. 1763-1773. https://doi.org/10.1038/s41431-019-0445-y, https://doi.org/10.1038/s41431-019-0445-y

Jansen, ME, Van Den Bosch, LJM, Hendriks, MJ, Scheffer, MMJ, Heijnen, ML, Douglas, CMW & Van El, CG 2019, ‘Parental perspectives on retention and secondary use of neonatal dried bloodspots: A Dutch mixed methods study’, BMC Pediatrics, vol. 19, no. 1, 230. https://doi.org/10.1186/s12887-019-1590-8

Beunders G, Dekker M, Haver O, Meijers-Heijboer HJ, Henneman L. Recontacting in light of new genetic diagnostic techniques for patients with intellectual disability: Feasibility and parental perspectives. Eur J Med Genet. 2018;61:213-218.

Borry P, Bentzen HB, Budin-Ljøsne I, Cornel MC, Howard HC, Feeney O, Jackson L, Mascalzoni D, Mendes Á, Peterlin B, Riso B, Shabani M, Skirton H, Sterckx S, Vears D, Wjst M, Felzmann H. The challenges of the expanded availability of genomic information: an agenda-setting paper. J Community Genet. J Community Genet. 2018;9:103-116.

Cornel MC. Responsible Implementation of Expanded Screening Programs for Genetic Diseases at the Beginning of Life. OBM Genetics 2018;2:013.

De Groot-van der Mooren MD, Tamminga S, Oepkes D, Weijerman ME, Cornel MC. Older mothers and increased impact of prenatal screening. Stable Down syndrome livebirth prevalence in the Netherlands for the period 2000-2013. Eur J Hum Genet. 2018;26:157-165.

De Wert G, Heindryckx B, Pennings G, Clarke A, Eichenlaub-Ritter U, van El CG, Forzano F, Goddijn M, Howard HC, Radojkovic D, Rial-Sebbag E, Dondorp W, Tarlatzis BC, Cornel MC; European Society of Human Genetics and the European Society of Human Reproduction and Embryology. Responsible innovation in human germline gene editing: Background document to the recommendations of ESHG and ESHRE. Eur J Hum Genet. 2018 Jan 12. doi: 10.1038/s41431-017-0077-z.

De Wert G, Pennings G, Clarke A, Eichenlaub-Ritter U, van El CG, Forzano F, Goddijn M, Heindryckx B, Howard HC, Radojkovic D, Rial-Sebbag E, Tarlatzis BC, Cornel MC; European Society of Human Genetics and the European Society of Human Reproduction and Embryology. Human germline gene editing: Recommendations of ESHG and ESHRE. Eur J Hum Genet. 2018 Jan 12. doi: 10.1038/s41431-017-0076-0.

Friedman JM, Bombard Y, Cornel MC, Knoppers BM et al. Genome-Wide Sequencing in Acutely-Ill Infants: Genomic Medicine’s Critical Application. Genetics in Medicine 2018 Jun 12. doi: 10.1038/s41436-018-0055-z. [Epub ahead of print]

Harper JC, Aittomäki K, Borry P, Cornel MC, 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 APA, Veiga A, Vermeesch JR, Viville S, Macek M Jr; on behalf of the European Society of Human Reproduction and Embryology and European Society of Human Genetics. Recent developments in genetics and medically assisted reproduction: from research to clinical applications.Eur J Hum Genet. 2018;26:12-33.

Holtkamp KCA, Lakeman P, Hader H, Jans SMJP, Hoenderdos M, Playfair HAM, Cornel MC, Peters M, Henneman L. Experiences of a high-risk population with prenatal hemoglobinopathy carrier screening in a primary care setting: A qualitative study. J Genet Couns, 2018;27:635-646

Howard HC, van El CG, Forzano F, Radojkovic D, Rial-Sebbag E, de Wert G, Borry P, Cornel MC; Public and Professional Policy Committee of the European Society of Human Genetics. 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. Eur J Hum Genet. 2018;26:1-11

Jackson L, O’Connor A, Paneque M, Curtisova V, Lunt PW, Pourova RK, Macek M Jr, Stefansdottir V, Turchetti D, Campos M, Henneman L, Godino L, Skirton H, Cornel MC. The Gen-Equip Project – evaluation and impact of genetics e-learning resources for primary care in six European languages. Genet Med. 2018 Jul 27. doi: 10.1038/s41436-018-0132-3

Martin L, Gitsels-van der Wal JT, de Boer MA, Vanstone M , Henneman L. Introduction of non-invasive prenatal testing as a first-tier aneuploidy screening test: A survey among Dutch midwives about their role as counsellors. Midwifery 2018;56:1-8

Mathijssen IB, Holtkamp KCA, Ottenheim CPE, Van Eeten Nijman JMC, Lakeman P, Ottenhof W, Meijers-Heijboer H, Van Maarle MC, Henneman L. Preconception carrier screening for multiple diseases: Evaluation of a screening offer in a Dutch founder population. Eur J Hum Genet. 2018;26:166-175.

Rahimzadeh V, Schickhardt C, Knoppers BM, Sénécal K, Vears DF, Fernandez CV, Pfister S, Plon S, Terry S, Williams J, Williams MS, Cornel M, Friedman JM. Key Implications of Data Sharing in Pediatric Genomics. JAMA Pediatr. 2018;172:476-481