Internationale wetenschappelijke 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. 2024;32:302–308
Becking EC, Scheffer PG, Henrichs J, Bax CJ, Crombag NMTH, Weiss JMM, Macville MVE, Van Opstal D, Boon EMJ, Sistermans EA, Henneman L, Schuit E, Bekker MN. Fetal fraction of cell-free DNA in non-invasive prenatal testing and adverse pregnancy outcomes: a nationwide retrospective cohort study of 56,110 pregnant women. Am J Obstet Gynecol. 231(2):244.e1-244.e18
Becking EC, Henneman L, Crombag NMTH, Bertorotta J, Rijsbergen Y, Bax CJ, van Vliet-Lachotzki E, Scheffer PG, Bekker MN. Perspectives of pregnant women on broadening the scope of noninvasive prenatal testing from screening for foetal aneuploidies to prediction of adverse pregnancy outcomes: A qualitative study. Prenat Diagn. 2024;44:1033-1042
Bruins D, Onstwedder SM, Cornel MC, Ausems MGEM, van Mil MHW, Rigter T. Information Provision Regarding Health-Related Direct-to-Consumer Genetic Testing for Dutch Consumers: An in-Depth Content Analysis of Sellers’ Websites. Genes. 2024 Apr 20;15(4):517.
Capalbo A, de Wert G, Henneman L, Kakourou G, Mcheik S, Peterlin B, van El C, Vassena R, Vermeulen N, Viville S, Forzano F. An ESHG-ESHRE survey on the current practice of expanded carrier screening in medically assisted reproduction. Hum Reprod. 2024:deae131. doi: 10.1093/humrep/deae131.
Causio, F. A., Beccia, F., Kreeftenberg, L. L., Calabrò, G. E., Pastorino, R., Boccia, S., & El, C. van. European survey: citizens’ attitudes on personalized medicine, genetic testing and health data sharing – design and delivery. Personalized Medicine, 2024; 1–4.
Claesen-Bengston Z, Bowman-Smart H, Vermeersch E, Vermeesch JR, Henneman L, Borry P. Should non-invasive prenatal testing (NIPT) be used for fetal sex determination? Perspectives and experiences of healthcare professionals. Eur J Hum Genet 2024;32(3):309-316.
Cornel MC, van der Meij KRM, van El CG, Rigter T, Henneman L. Genetic Screening—Emerging Issues. Genes. 2024; 15(5):581
Friedman JM, Bombard Y, Carleton B, Issa AM, Knoppers B, Plon SE, Rahimzadeh V, Relling MV, Williams MS, van Karnebeek C, Vears D, Cornel MC; Global Alliance for Genomics and Health Regulatory and Ethics Workstream. Should Secondary Pharmacogenomic Variants Be Actively Screened and Reported When Diagnostic Genome-Wide Sequencing Is Performed in a Child? Genet Med. 2024;26:101033.
Geuverink W, Gitsels J, Cornel MC, Lietaert Peerbolte BJ, Prinds C, van El CG, Martin L. The impact of counselors’ values and religious beliefs on their role identity and their perspectives on heritable genome editing: A qualitative interview study. Humanities and Social Sciences Communications 2024; 11:1074.
Geuverink WP, Houtman D, Retel Helmrich IRA, van Baalen S, van Beers BC, van El CG, Henneman L, Kasprzak MD, Arets D, Riedijk SR; ‘De DNA dialogen’ consortium. The need to set explicit goals for human germline gene editing public dialogues. J Community Genet. 2024;15:259–265
Klein D, van Dijke I, van Langen IM, Dondorp W, Lakeman P, Henneman L, Cornel MC. Reproductive healthcare providers’ perceptions regarding their involvement in offering expanded carrier screening in fertility clinics: a qualitative study. Reproductive BioMedicine Online 2024; 103857.
Klein Haneveld MJ, Hieltjes IJ, Langendam MW, Cornel MC, Gaasterland CMW, Van Eeghen AM. Improving care for rare genetic neurodevelopmental disorders: a systematic review and critical appraisal of clinical practice guidelines using AGREE II. Genet Med. 2024;11:101071
Kreeftenberg LL, Henneman L, Ket H, Cornel MC, Van El CG. Engagement of patients and the public in personalised prevention in Europe using genomic information: a scoping review. Frontiers in Public Health 2024;12:1456853.
Lust EER, Bronsgeest K, Henneman L, Crombag N, Bilardo CM, Galjaard RJH, Sikkel E, van der Hout S, Coumans A, Elvan-Taşpınar A, Go ATJI, Galjaard S, Manten GTR, Pajkrt E, van Leeuwen L, Haak MC, Bekker MN. Introduction of a nationwide first-trimester anomaly scan in the Dutch national screening program, American Journal of Obstetrics and Gynecology 2024; S0002-9378(24)00785-3.
Müller AR, Boot E, Notermans SB, Schuengel C, Henneman L, Cornel MC, van Haelst MM, Alders M, van Karnebeek CDM, Bijl B, Wijburg FA, van Eeghen AM. Do we care? Reporting of genetic diagnoses in multidisciplinary intellectual disability care: a retrospective chart review. Orphanet J Rare Dis. 2024;19(1):346.
Onstwedder SM, Jansen ME, Cornel MC, Rigter T. Policy Guidance for Direct-to-Consumer Genetic Testing Services: Framework Development Study. J Med Internet Res. 2024 Jul 17;26:e47389.
Pastorino R, Pezzullo AM, Osti T, Adany R, Borry P, Barnhoorn F, Fadil E, Kroese M, Metspalu A, Perez-Gomez B, Perola M, Quaggia D, Scollen S, Shabani M, Swartling Peterson S, van El C, Vicente A, Boccia S. The PROPHET project paves the way for personalized prevention in the future healthcare. Eur J Cancer Prev. 2024 Apr 11.
Skojo M, Srebniak MI, Henneman L, Sistermans EA, van der Meij KRM. Implementing non-invasive prenatal testing in a national screening program: Lessons learned from the TRIDENT studies. Best Pract Res Clin Obstet Gynaecol. 2024;97:102543
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, van der Pal SM, Verschoof-Puite RK, Klapwijk JE, Elsinghorst E, Dekkers E, van der Ploeg CPB, Henneman L. Psychosocial impact of a true-positive, false-positive, or inconclusive newborn bloodspot screening test result: a questionnaire study among parents. Int. J. Neonatal Screen. 2024;10(1):18.
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
Becking EC, Scheffer PG, Henrichs J, Bax CJ, Crombag NMTH, Weiss MM, Macville MVE, Van Opstal D, Boon EMJ, Sistermans EA, Henneman L, Schuit E, Bekker MN. Fetal fraction of cell-free DNA in noninvasive prenatal testing and adverse pregnancy outcomes: a nationwide retrospective cohort study of 56,110 pregnant women. Am J Obstet Gynecol. 2023 Dec 12:S0002-9378(23)02128-2.
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
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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.
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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.
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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
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