International scientific publications
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 

Samuel G, Howard HC, Cornel M, van El C, Hall A, Forzano F, Prainsack B. A response to the forensic genetics policy initiative's report "Establishing Best Practice for Forensic DNA Databases". Forensic Sci Int Genet. 2018 Jul 5. pii: S1872-4973(18)30271-0. doi: 10.1016/j.fsigen.2018.07.002.

Vandermeer B, van der Tweel I, Jansen-van der Weide MC, Weinreich SS, Contopoulos-Ioannidis DG, Bassler D, Fernandes RM, Askie L, Saloojee H, Baiardi P, Ellenberg SS, van der Lee JH. Comparison of nuisance parameters in pediatric versus adult randomized trials: a meta-epidemiologic empirical evaluation. BMC Med Res Methodol. 2018 Jan 10;18(1):7. doi: 10.1186/s12874-017-0456-8

Van Bruggen MJ, Henneman L, Timmermans DRM. Women's decision making regarding prenatal screening for fetal aneuploidy: A qualitative comparison between 2003 and 2016. Midwifery 2018;64:93-100.

van de Vrugt HJ, Cornel MC, Wolthuis RMF. CRISPR/Cas: technique to repair DNA errors: is a clinical breakthrough near? Ned Tijdschr Geneeskd. 2018 Jun 29;162. pii: D2461.

van Dijke I, Bosch L, Bredenoord AL, Cornel M, Repping S, Hendriks S. The ethics of clinical applications of germline genome modification: a systematic review of reasons. Hum Reprod. 2018 Aug 6. doi: 10.1093/humrep/dey257.

Van Opstal D, van Maarle MC, Lichtenbelt K, Weiss MM, Schuring-Blom H, Bhola SL, Hoffer MJV, Huijsdens-van Amsterdam K, Macville MV, Kooper AJA, Faas BHW,  Govaerts L, Tan-Sindhunata GM, den Hollander N, Feenstra I, Galjaard RJH, Oepkes D, Ghesquiere S, Brouwer RWW, Beulen L, Bollen S, Elferink MG,  Straver R, Henneman L, Page-Christiaens GC, Sistermans EA, for the Dutch NIPT Consortium. Origin and clinical relevance of chromosomal aberrations other than the common trisomies detected by genome-wide NIPT: results of the TRIDENT study. Genetics in Medicine 2018 20;480-485. 


International scientific publications
Cornel M. A higher impact of less specific preconception carrier screening: a plea for a "one size fits all" approach? (Editorial) Journal of Xiangya Medicine  2017;2:14.

Dommering CJ, Henneman L, van der Hout AH, Jonker MA, Tops CM, van den Ouweland AM, van der Luijt RB, Mensenkamp AR, Hogervorst FB, Redeker EJ, de Die-Smulders CE, Moll AC, Meijers-Heijboer H.Uptake of prenatal diagnostic testing for retinoblastoma compared to other hereditary cancer syndromes in the Netherlands. Familial Cancer 2017 , DOI: 10.1007/s10689-016-9943-z

Friedman JM, Cornel MC, Goldenberg AJ, Lister KJ, Sénécal K, Vears DF; Global Alliance for Genomics and Health Regulatory and Ethics Working Group Paediatric Task Team. Genomic newborn screening: public health policy considerations and recommendations. BMC Med Genomics. 2017;10:9.

Holtkamp KCA, Mathijssen IB, Lakeman P, Van Maarle M, Dondorp WJ, Henneman L, Cornel MC. Factors for successful implementation of population-based expanded carrier screening: Learning from existing initiatives. Eur J Publ Health, 2016; doi: 10.1093/eurpub/ckw110

Holtkamp KCA, Vos EM, Rigter T, Lakeman P, Henneman L, Cornel MC. Stakeholder perspectives on the implementation of genetic carrier screening in a changing landscape. BMC Health Services Research  2017; 17:146

Hörster F, Kölker S, Loeber JG, Cornel MC, Hoffmann GF, Burgard P. Newborn Screening Programmes in Europe, Arguments and Efforts Regarding Harmonisation: Focus on Organic Acidurias. JIMD Rep. 2016 Jun 26. [Epub ahead of print] PMID: 27344647 

Jansen ME, Metternick-Jones SC, Lister K. International differences in the evaluation of conditions for newborn bloodspot screening: a review of scientific literature and policy documents. Eur J Hum Genet 2017;25:10-16.

Lipka AF, Vrinten C, van Zwet EW, Schimmel KJM, Cornel MC, Weinreich SS, Verschuuren J, Kuijpers MR. Ephedrine treatment for autoimmune myasthenia gravis. Neuromuscul Disord. 2017;27:259-265.

Paneque M, Cornel MC, Curtisova V, Houwink E, Leigh Jackson L, Kent A, Lunt P, Macek M, Stefansdottir V, Turchetti D, Skirton H. Implementing genetic education in primary care: the Gen-Equip programme. Journal of Community Genetics 2017. doi:10.1007/s12687-017-0296-6

Tamminga S, van Dussen L, Verweij EJ, de Boer MA, Cornel MC, Henneman L. What do people want to know about NIPT? Content analysis of questions emailed to national NIPT information websites. Prenat Diagn. 2017 Jan 26. doi: 10.1002/pd.5011

Tonk ECM, Gurwitz D, Maitland-van der Zee AH, Janssens ACJW. Assessment of pharmacogenetic tests: presenting measures of clinical validity and potential population impact in association studies. Pharmacogenomics J 2016 May 10. doi: 10.1038/tpj.2016.34. [Epub ahead of print]

van Schendel RV, Kater-Kuipers A, van Vliet-Lachotzki EH, Dondorp WJ, Cornel MC, Henneman L. What do parents of children with Down syndrome think about non-invasive prenatal testing (NIPT)? J Genet Couns, 2016 [Epub ahead of print]


International scientific publications

Bell J, Ancillotti M, Coathup V, Coy S, Rigter T, Tatum T, Grewal J, Berat Akcesme F, Brki? J, Causevic-Ramosevac A, Milovanovic G, Nobile M, Pavlidis C, Finlay T, Kaye J and ELSI2.0. Challenges and opportunities for ELSI early career researchers. BMC Medical Ethics 2016;17:37.

Blom F, Bergman JEH, de Walle HEK. Are congenital urinary tract and genital organ anomalies related to folic acid? Eur Urol 2016;69:544-6.

Campbell W, Ganna A, Ingelsson E, Janssens AC. Prediction impact curve was a new
graphical approach integrating intervention effects in the evaluation of prediction model utility. J. Clin Epidemiol 2016;69:89-95.

Crombag NMTH, van Schendel RV, Schielen PCJI, Bensing JM, Henneman L. Present to future: what the reasons for declining first-trimester combined testing tell us about accepting or declining cell-free DNA testing. Prenatal Diagnosis 2016;36:1-4.

Gaasterland CM, Jansen-van der Weide MC, Weinreich SS, van der Lee JH.A systematic review to investigate the measurement properties of goal attainment scaling, towards use in drug trials. BMC Medical Research Methodology. 2016,16:99.

Henneman L, Borry P, Chokoshvili D, Cornel MC, van El CG, Forzano F, Hall A, Howard H, Janssens S, Kayserili H, Lakeman P, Lucassen A, Metcalfe SA, Vidmar L, de Wert G, Dondorp WJ, Peterlin B on behalf of the European Society of Human Genetics (ESHG). Responsible implementation of expanded carrier screening. Eur J Hum Genet 2016;24:e1-e12.

Hill M, Johnson JA, Langlois S, Lee H, Winsor S, Dineley B, Horniachek M, Lalatta F, Ronzoni L, Barrett AN, Advani HA, Choolani M, Rabinowitz R, Pajkrt E, Van Schendel RV, Henneman L, Rommers W, Bilardo CM, Rendeiro P, Ribeiro MJ, Rocha J, Bay Lund IC, Petersen OB, Becher N, Vogel I, Stefánsdottir V, Olafsdottir S,  Gottfredsdottir H, Morris S, Chitty LS. Preferences for prenatal tests for Down syndrome: an international comparison of the views of pregnant women and health professionals. Eur J Hum Genet 2016;24:968-75.

Holtkamp KCA, Van Maarle MC, Schouten M, Dondorp WJ, Lakeman P, Henneman L. Do people from the Jewish community prefer ancestry-based or pan-ethnic expanded carrier screening? Eur J Hum Genet 2016;24:171-7.

Janssens AC. Designing babies through gene editing: science or science fiction? Genet Med. 2016;18:1186-1187.

Janssens S, Chokoshvili D, Binst C, Mahieu I, Henneman L, De Paepe A, Borry P. Attitudes of cystic fibrosis patients and parents towards carrier screening and related reproductive issues. Eur J Hum Genet 2016;24:506-512.

Kundu S, Kers JG, Janssens ACJW. Constructing risk data for hypothetical populations based on the area under the ROC curve. PLoS One 2016;11:e0152359.

Martens FK, Kers JG, Janssens AC. Risk Analysis of Prostate Cancer in PRACTICAL Consortium-Letter. Cancer Epidemiol Biomarkers Prev. 2016;25:222.

Martens FK, Tonk EC, Kers JG, Janssens AC. Small Improvement in the Area Under the Receiver Operating Characteristic Curve Indicated Small Changes in Predicted Risks. J Clin Epidemiol. 2016;79:159-164.

Oepkes D, Page-Christiaens LC, Bax CJ, Bekker MN, Bilardo CM, Boon EM, Schuring-Blom GH, Coumans AB, Faas BH, Galjaard RH, Go AT, Henneman L, Macville MV, Pajkrt E, Suijkerbuijk RF, Huijsdens-vanAmsterdam K, Van Opstal D, Verweij EJ, Weiss MM, Sistermans EA; Dutch NIPT Consortium. Trial by Dutch Laboratories for Evaluation of Non-Invasive Prenatal Testing. Part I - Clinical Impact.  Prenat Diagn. 2016;36:1083-1090.

Paneque M, Turchetti D, Jackson L, Lunt P, Houwink E, Skirton H. A systematic review of interventions to provide genetics education for primary care. BMC Fam Pract. 2016;17:89.

Perdok H, Jans S, Verhoeven C, Henneman L, Wiegers TA, Mol BW, Schellevis FG, de Jonge A. Opinions of maternity care professionals and other stakeholders about integration of maternity care: a qualitative study in the Netherlands. BMC Pregnancy Childbirth, 2016;16:188.

Tamminga S, van Maarle M, Henneman L, Oudejans CBM, Cornel MC, Sistermans EA. Maternal Plasma DNA and RNA Sequencing for Prenatal Testing. Advances in Clinical Chemistry 2016;74:63-102.

Van Driel CMG, Oosterwijk JC, Meijers-Heijboer EJ, van Asperen CJ, Zeijlmans IA, de Vries J, Mourits MJE, Henneman L, Timmermans DRM, de Bock GH. Psychological factors associated with the intention to choose for risk-reducing mastectomy in family cancer clinic attendees. Breast 2016; 30:66-72.

van Schendel RV, Page-Christiaens L, Beulen L, Bilardo CM, de Boer MA, Coumans AB, Faas BH, van Langen IM, Lichtenbelt KD, van Maarle MC, Macville MV, Oepkes D, Pajkrt E, Henneman L; Dutch NIPT Consortium.  Trial by Dutch Laboratories for Evaluation of Non-Invasive Prenatal Testing. Part II - Women's Perspectives. Prenat Diagn. 2016;36:1091-1098.

Van Teeffelen SR, Douglas CMW, Van El CG, Weinreich SS, Henneman L, Radstake M, Cornel MC. Mothers' Views on Longer Storage of Neonatal Dried Blood Spots for Specific Secondary Uses.  Public Health Genomics 2016;19:25-33.

Vrinten C, Gu X, Weinreich SS, Schipper MH, Wessels J, Ferrari MD, Hoijtink H, Verschuuren JJ. An n-of-one RCT for intravenous immunoglobulin G for inflammation in hereditary neuropathy with liability to pressure palsy (HNPP). J Neurol Neurosurg Psychiatry 2016;87:790-1.

Wijdenes M, Henneman L, Dondorp WJ, Cornel MC, Timmermans DR. 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. Public Health 2016;130:87-90.


International scientific publications

Bosma AR, Rigter T, Weinreich SS, Cornel MC, Henneman L. A genetic diagnosis of maturity-onset diabetes of the young (MODY): Experiences of patients and family members. Diabet Med 2015;32:1385-92.

Chowdhury S, Henneman L, Dent T, Hall A, Burton A, Pharoah P, Pashayan N, Burton H. Do health professionals need additional competencies for stratified cancer prevention based on genetic risk profiling? J Pers Med 2015;5:191-212.

De Smit D, Weinreich SS, Cornel MC. Effects of a simple educational intervention in well-baby clinics on women's knowledge about and intake of folic acid supplements in the periconceptional period: a controlled trial. Public Health Nutrition 2015;18:1119-26.

Dondorp W, De Wert G, Bombard Y, Bianchi DW, Bergmann C, Borry P, Chitty LS, Fellmann F, Forzano F, Hall A, Henneman L, Howard HC, Lucassen A, Ormond K, Peterlin B, Radojkovic D, Rogowski W, Soller M, Tibben A, Tranebjærg L, Van El CG, Cornel MC, on behalf of the European Society of Human Genetics (ESHG) and the American Society of Human Genetics (ASHG). Non-invasive prenatal testing for aneuploidy and beyond: challenges of responsible innovation in prenatal screening. Eur J Hum Genet 2015;23:1438-50.

Douglas CMW, Scheltens P. Rethinking biobanking and translational medicine in the Netherlands: how the research process stands to matter for patient care. Eur J Hum Genet 2015;23:736-738.

Hehir-Kwa JY, Claustres M, Hastings RJ, van Ravenswaaij-Arts C, Christenhusz G, Genuardi M, Melegh B, Cambon-Thomsen A, Patsalis P, Vermeesch J, Cornel MC, Searle B, Palotie A, Capoluongo E, Peterlin B, Estivill X, Robinson PN. Towards a European consensus for reporting incidental findings during clinical NGS testing. Eur J Hum Genet. 2015;23:1601-6.

Henneman L, Mc Bride CM, Cornel MC, Duquette D, Qureshi N. Screening for familial hypercholesterolemia in children: what can we learn from adult screening programs? Healthcare 2015;3:1018-1030. 

Henneman L, Page-Christiaens GCML, Oepkes D. NIPT: uitdagingen voor de toekomst. Ned Tijdschr Geneeskd. 2015;159:A9479. [in Dutch]

Houwink EJ, Muijtjens AM, van Teeffelen SR, Henneman L, Rethans JJ, Jacobi F, van der Jagt L, Stirbu I, van Luijk SJ, Stumpel CT, Meijers-Heijboer HE, van der Vleuten C, Cornel MC, Dinant GJ. Effect of Comprehensive Oncogenetics Training Interventions for General Practitioners, Evaluated at Multiple Performance Levels. PLoS One. 2015;10:e0122648.

Howard HC, Knoppers BM, Cornel MC, Wright Clayton E, Sénécal K, Borry P; endorsed by the European Society of Human Genetics; the P3G International Paediatric Platform; the Human Genome Organisation; and the PHG Foundation. Whole-genome sequencing in newborn screening? A statement on the continued importance of targeted approaches in newborn screening programmes. Eur J Hum Genet 2015;23:1593-600.

Janssens S, Kalokairinou L, Chokoshvili D, Binst C, Mahieu I, Henneman L, De Paepe A, Borry P. Attitudes of cystic fibrosis patients and their parents towards direct-to-consumer genetic testing for carrier status. Pers Med 2015;12: 99-107.

Jonker MA, Teeuw ME, Kelmemi W, Kharrat M, Chaabouni-Bouhamed H, Ten Kate LP. Estimating the Total Pathogenic Allele Frequency of Autosomal Recessive Disorders in Case of Consanguinity.
Hum Hered. 2015;80:69-78.

Kelmemi W, Teeuw ME, Bochdanovits Z, Ouburg S, Jonker MA, Alkuraya F, Hashem M, Kayserili H, van Haeringen A, Sheridan E, Masri A, Cobben JM, Rizzu P, Kostense PJ, Dommering CJ, Henneman L, Bouhamed-Chaabouni H, Heutink P, Ten Kate LP, Cornel MC. Determining the genome-wide kinship coefficient seems unhelpful in distinguishing consanguineous couples with a high versus low risk for adverse reproductive outcome. BMC Med Genet. 2015; 16: 50.

Mathijssen IB, Henneman L, Van Eeten-Nijman JMC, Lakeman P, Ottenheim CPE, Redeker EJW, Ottenhof W, Meijers-Heijboer H, Van Maarle MC. Targeted carrier screening for four recessive disorders: High detection rate within a founder population. Eur J Med Genet 2015;58:123-128.

Severin F, Borry P, Cornel MC, Daniels N, Fellmann F, Hodgson SV, Howard HC, John J, Kayserili H, Kent A, Koerber F, Kristoffersson U, Kroese M, Lewis C, Marckmann G, Meyer P, Pfeufer A, Schmidtke J, Skirton H, Rogowski WH for the EuroGentest and ESHG / PPPC Priority Consortium. Points to consider for prioritizing clinical genetic testing services: a European consensus process oriented at accountability for reasonableness. Eur J Hum Genet 2015;23:729-35.

Tamminga S, van Schendel RV, Rommers W, Bilardo CM, Pajkrt E, Dondorp WJ, van Maarle M, Cornel MC, Henneman L. Changing to NIPT as a first-tier screening test and future perspectives: Opinions of health professionals. Prenatal Diagnosis 2015;35:1316-23.

Temel S, van Voorst SF, de Jong-Potjer LC, Waelput AJ, Cornel MC, de Weerd SR, Denkta? S, Steegers EA. The Dutch national summit on preconception care: a summary of definitions, evidence and recommendations. J Community Genet. 2015;6:107-15.

Van Schendel RV, Dondorp WJ, Timmermans DRM, van Hugte EJ, de Boer A, Pajkrt E, Lachmeijer AMA, Henneman L. NIPT-based screening for Down syndrome and beyond: what do pregnant women think? Prenatal Diagnosis 2015;35:598-604.

Van der Zwaag AM, Weinreich SS, Bosma AR, Rigter T, Losekoot M, Henneman L, Cornel MC. Current and best practices of genetic testing for Maturity Onset Diabetes of the Young (MODY): Views of professional experts. Public Health Genomics 2015:18:52-59.

Vrinten C, Lipka AF, van Zwet EW, Schimmel KJM, Cornel MC, Kuijpers MR, Hekster YA, Weinreich SS, Verschuuren JJGM. Ephedrine as add-on therapy for patients with myasthenia gravis: protocol for a series of randomised, placebo-controlled n-of-1 trials. BMJ Open 2015;5:e007863

Weinreich SS, Bosma A, Henneman L, Rigter T, Spruit CMJ, Grimbergen JEMA, Breuning MH, de Koning EJP,  Losekoot M, Cornel MC. A decade of molecular genetic testing for MODY: a retrospective study of utilization in The Netherlands. Eur J Hum Genet 2015;23:29-33


International scientific publications

Boccia S, Mc Kee M, Adany R, Boffetta P, Burton H, Cambon-Thomsen A, Cornel MC, Gray M, Jani A, Maria Knoppers B, Khoury MJ, Meslin EM, Van Duijn CM, Villari P, Zimmern R, Cesario A, Puggina A, Colotto M, Ricciardi W. Beyond public health genomics: proposals from an international working group. Eur J Public Health 2014;24:876-8.

Bortolus R, Blom F, Filippini F, van Poppel MNM, Leoncini E, de Smit DJ, Benetollo PP, Cornel MC, de Walle HEK, Mastroiacovo P. Prevention of congenital malformations and other adverse pregnancy outcomes with 4.0 mg of folic acid: community-based randomized clinical trial in Italy and the Netherlands. BMC Pregnancy and Childbirth 2014;14:166.

Cornel MC, van El CG, Borry P. The challenge of implementing genetic tests with clinical utility while avoiding unsound applications. Journal of Community Genetics 2014;5:7-12.

Cornel MC, Rigter T, Weinreich SS, Burgard P, Hoffmann GF, Lindner M, Loeber JG, Rupp K, Taruscio D, Vittozzi L. A framework to start the debate on neonatal screening policies in the EU - An Expert Opinion Document. Eur J Hum Genet. 2014;22:12-7.

Deenen JC, Arnts H, van der Maarel SM, Padberg GW, Verschuuren JJ, Bakker E, Weinreich SS, Verbeek AL, van Engelen BG.  Population-based incidence and prevalence of facioscapulohumeral dystrophy. Neurology 2014;83:1056-9.

De Groot- van der Mooren MD, Gemke RJBJ, Cornel MC, Weijerman ME. Diagnosing Down syndrome in newborns in the Netherlands: suspicion and communication with parents. Journal of Intellectual Disability Research 2014;58:953-61.

Dondorp WJ, van El CG, de Wert GMWR, Cornel MC. Raw Data: Research and Health Care Goals Differ. Science 2014;343; 968-9.

Harper J, Geraedts J, Borry P, Cornel MC, Dondorp WJ, Gianaroli L, Harton G, Milachich T, Kääriäinen H, Liebaers I, Morris M, Sequeiros J, Sermon K, Shenfield F, Skirton H, Soini S, Spits C, Veiga A, Vermeesch JR, Viville S, de Wert G, Macek M Jr; on behalf of ESHG, ESHRE and EuroGentest2. Current issues in medically assisted reproduction and genetics in Europe: research, clinical practice, ethics, legal issues and policy. Human Reproduction 2014;29:1603-9.

Houwink EJF, Muijtjens AMM, Van Teeffelen SR, Henneman L, Rethans JJ, Van der Jagt L, Van Luijk SJ, Dinant GJ, Van der Vleuten C, Cornel MC. Effectiveness of oncogenetics training on general practitioners' consultation skills: a randomized controlled trial. Genetics in Medicine 2014;16:45-52.

Houwink EJF, Van Teeffelen SR, Muijtjens AMM, Henneman L, Jacobi F, Van Luijk SJ, Dinant GJ, Van der Vleuten C, Cornel MC. Sustained effects of online genetics education: A randomised controlled trial on oncogenetics. Eur J Hum Genet 2014; 22:310-6.

Horstkoetter D, Van EL CG, Kempes M, Egger J, Rinne T, Pieters T, De Wert G de. Neuroimaging in the courtroom: Normative Frameworks and Consensual Practices. AJOB Neuroscience 2014;5:37-39.

Kers JG, van Burg E, Stoop T, Cornel MC. Trends in genetic patent applications: the commercialization of academic intellectual property. Eur J Hum Genet 2014:22;1155-1159.

Manniën J, de Jonge A, Cornel MC, Spelten E, Hutton EK. Factors associated with not using folic acid supplements preconceptionally. Public Health Nutr 2014;17:2344-2350.

Rigter T, Henneman L, Broerse JEW, Shepherd M, Blanco I, Kristoffersson U, Cornel MC. Developing a framework for implementation of genetic services: learning from examples of testing for monogenic forms of common diseases. Journal of Community Genetics 2014;5:337-347. 

Rigter T, van Aart CJA, Elting MW, Waisfisz Q, Cornel MC, Henneman L. Informed consent for exome sequencing in diagnostics: exploring first experiences and views of professionals and patients. Clin Genet 2014:85:417-422.
Ruijter GJG, Goudriaan DA, Boer AM, Van den Bosch J,  Van der Ploeg AT, Elvers LH, Weinreich SS, Reuser AJ. Newborn screening for Hunter disease: a small scale feasibility study. J Inherit Metab Dis Reports  2014;14:23-7. 

Teeuw ME, Loukili G, Ten Kate LP, Cornel MC, Henneman L. Consanguineous marriage and reproductive risk: Attitudes and understanding of ethnic groups practising consanguinity in Western society. Eur J Hum Genet 2014;22:452-457 

Teeuw M, Waisfisz Q, Zwijnenburg PJ, Sistermans EA, Weiss MM, Henneman L, Ten Kate LP, Cornel MC, Meijers-Heijboer H. First steps in exploring prospective exome sequencing of consanguineous couples. Eur J Med Genet 2014;57:613-6.

Ten Kate LP. Psychomotor developmental delay and epilepsy in an offspring of father-daughter incest: quantification of the causality probability. International journal of legal medicine 2014;128(5):749-50.

Ten Kate LP, Teeuw ME, Henneman L, Cornel MC. Consanguinity and Endogamy in the Netherlands: Demographic and Medical Genetic Aspects. Human Heredity 2014;77:161-166.

van El CG, Rigter T, Reuser AJ, van der Ploeg AT, Weinreich SS, Cornel MC. Newborn screening for Pompe disease? A qualitative study exploring professional views. BMC Pediatr 2014;14:203.

Van Esch SCM, Nijkamp MD, Cornel MC, Snoek FJ. Illness representations of type 2 diabetes patients are associated with perceptions of diabetes threat in relatives. Journal of Health Psychology 2014;19:358-68.

Van Schendel RV, Kleinveld JH, Dondorp WJ, Pajkrt E, Timmermans DRM, Holtkamp KCA, Karsten M, Vlietstra AL, Lachmeijer AMA, Henneman L. Attitudes of pregnant women and male partners towards non-invasive prenatal testing (NIPT) and widening the scope of prenatal screening. Eur J Hum Genet 2014; 22: 1345-1350.

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