Publicaties Parelsnoer Instituut




Cerebrovasculair Accident (CVA)

Os HJA van, Ruigrok YM, Manniën J, et al. Dutch Parelsnoer Institute-Cerebrovascular accident (CVA) Study: a large standardized multicenter clinical biobank with standardized collection and storage. OJB 2018;5:8.

Hauer AJ, Pulit SL, van den Berg LH, et al. & Dutch Parelsnoer Institute-Cerebrovascular Accident (CVA) Study Group. A replication study of genetic risk loci for ischemic stroke in a Dutch population: a case-control study. Sci Rep 2017;7:12175.

Hauer AJ, Ruigrok YM, Algra A, et al.; On behalf of the Dutch Parelsnoer Institute-Cerebrovascular Accident Study Group. Age-specific vascular risk factor profiles according to stroke subtype. J Am Heart Assoc 2017;6:e005090.

Nederkoorn PJ, van Dijk EJ, Koudstaal PJ, et al. Dutch String-of-Pearls Stroke Study-Group. The Dutch String-of-Pearls Stroke Study: protocol of a large prospective multicenter genetic cohort study. Int J Stroke 2015;10(1):120-2.


Franken R, Groenink M, de Waard V, et al. Genotype impacts survival in Marfan syndrome. Eur Heart J 2016;37(43):3285-3290.

Schoormans D, Sprangers MA, van Melle JP, et al. Clinical and psychological characteristics predict future healthcare use in adults with congenital heart disease. Eur J Cardiovasc Nurs 2016;15(1):72-81.

Bokma JP, Winter MM, Oosterhof T, et al. Preoperative thresholds for mid-to-late haemodynamic and clinical outcomes after pulmonary valve replacement in tetralogy of Fallot. Eur Heart J 2016;37(10):829-835.

Bokma JP, Winter MM, Mulder BJ, Bouma BJ. Tricuspid regurgitation secondary to severe pulmonary regurgitation: When to operate on which valves? Ann Thorac Surg 2015;100(6):2417-2418.

Blok IM, van Riel AC, Mulder BJ, Bouma BJ. Management of patients with pulmonary arterial hypertension due to congenital heart disease: recent advances and future directions. Expert Rev Cardiovasc Ther 2015;13(12):1377-92. 

van Riel AC, Blok IM, Zwinderman AH, et al. Lifetime risk of pulmonary hypertension for all patients after shunt closure. J Am Coll Cardiol 2015;66(9):1084-1086.

Bokma JP, Winter MM, Oosterhof T, et al. Individualised prediction of pulmonary homograft durability in tetralogy of Fallot. Heart 2015;101(21):1717-1723.

Franken R, Mulder BJ. Aortic disease: Losartan versus atenolol in the Marfan aorta-how to treat? Nat Rev Cardiol 2015;12:447-448. 

van Riel AC, de Bruin-Bon RH, Gertsen EC, et al. Simple stress echocardiography unmasks early pulmonary vascular disease in adult congenital heart disease. Int J Cardiol 2015;197:312-314.

Bokma JP, Winter MM, Oosterhof T, et al. Severe tricuspid regurgitation is predictive for adverse events in tetralogy of Fallot. Heart 2015;101:794-799.

Blok IM, van Riel AC, Schuuring MJ, et al. Decrease in quality of life predicts mortality in adult patients with pulmonary arterial hypertension due to congenital heart disease. Neth Heart J 2015;23(5):278-284.

Franken R, El Morabit A, de Waard V, et al. Increased aortic tortuosity indicates a more severe aortic phenotype in adults with Marfan syndrome. Int J Cardiol 2015;194:7-12.

Sluman MA, Apers S, Bouma BJ, et  al. Uncertainties in insurances for adults with congenital heart disease. Int J Cardiol 2015;186:93-95.

Kuijpers JM, Mulder BJ, Bouma BJ. Secundum atrial septal defect in adults: a practical review and recent developments. Neth Heart J 2015;23(4):205-211.

Kuijpers JM, van der Bom T, van Riel AC, et al. Secundum atrial septal defect is associated with reduced survival in adult men. Eur Heart J 2015;36(31):2079-2086.

Kampman MA, Balci A, Groen H,  et al. ZAHARA II investigators. Cardiac function and cardiac events 1-year postpartum in women with congenital heart disease. Am Heart J 2015;169(2):298-304.

den Hartog AW, Franken R, Zwinderman AH, et al. The risk for type B aortic dissection in marfan syndrome. J Am Coll Cardiol 2015;65(3):246-254.

Franken R, den Hartog A, Radonic T, et al. Beneficial outcome of losartan therapy depends on type of FBN1 mutation in Marfan Syndrome. Circ Cardiovasc Genet 2015;8:383-388.  

van der Bom T, Winter MM, Knaake JL, et al. Long-term benefits of exercise training in patients with a systemic right ventricle. Int J Cardiol 2015;179:105-111.

Luijendijk P, Lu H, Heynneman FB, et al. Increased carotid intima-media thickness predicts cardiovascular events in aortic coarctation. Int J Cardiol 2014;176(3):776-781.

Koyak Z, Kroon B, de Groot JR, et al. Efficacy of antiarrhythmic drugs in adults with congenital heart disease and supraventricular tachycardias. Am J Cardiol 2013;112(9):1461-1467.

Mulder BJ. Endocarditis in congenital heart disease: who is at highest risk? Circulation 2013;128:1396-1397.

Mamasoula C, Prentice RR, Pierscionek T, et al. Association between C677T polymorphism of methylene tetrahydrofolate reductase and congenital heart disease: Meta-analysis of 7697 cases an 13 125 controls. Circ Cardiovasc Genet 2013;6:347-353. 

van Slooten YJ, Freling HG, van Melle JP, et al. Long-term tricuspid valve prothesis-related complications in patients with congenital heart disease. Eur J Cardiothorac Surg 2014;45(1):83-89.

Joziasse IC, Vink A, Cramer MJ, et al. Bicuspid stenotic aortic valves: clinical characteristics and morphological assessment using MRI and echocardiography. Neth Heart J 2011;19(3):119-125.

Diabetes (DIA)

Özcan B, Rutters F, Snoek JF, et al. High diabetes distress among ethnic minorities is not explained by metabolic, cardiovascular, or lifestyle factors: findings from the Dutch Diabetes Pearl Cohort. Diab Care 2018;41(9):1854-1861.

Rutte A, Rauh SP, Schram MT, et al. Diabetes Pearl from the Parelsnoer Initiative. Individual and partner’s level of occupation and the association with HbA1c levels in people with Type 2 diabetes mellitus: the Dutch Diabetes Pearl cohort. Diabet Med 2017;34(11):1623-1628.

van 't Riet E, Schram MT, Abbink EJ, et al. The Diabetes Pearl: Diabetes biobanking in The Netherlands. BMC Public Health 2012;12:949.

Erfelijke darmkanker (BED)

Manders P, Lutomski JE, Smit C, et al. The Radboud Biobank: A central facility for disease-based biobanks to optimise use and distribution of biomaterial for scientific research in the Radboud University Medical Center, Nijmegen. OJB 2018;5:2.

Hoogerbrugge N, Manders P. Biobank Erfelijke Darmkanker (BED) Parelsnoer Initiatief. Hèt HNPCC-Lynch journaal 2010;7(4):27-28.

Inflammatoire darmziekten (IBD)

Momozawa Y, Dmitrieva J, Théâtre E, et al. IBD risk loci are enriched in multigenic regulatory modules encompassing putative causative genes. Nat Commun 2018;9(1):2427.

Meijer B, Mulder CJJ, Bouma G, et al. Methotrexate and thioguanine rescue therapy for conventional thiopurine failing ulcerative colitis patients: a multi-center database study on tolerability and effectiveness. Inflamm Bowel Dis 2018;24(7):1558-1565.

Severs M, Spekhorst LM, Mangen MJ, et al. Sex-related differences in patients with inflammatory bowel disease; results of 2 prospective cohort studies. Inflamm Bowel Dis 2018;24(6):1298-1306.

Visschedijk MC, Spekhorst LM, Cheng S-C, et al. Genomic and expression analyses identify a disease-modifying variant for fibrostenotic Crohn’s disease. J Crohns Colitis 2018;12(5):582-588.

Imhann F, Vich Vila A, Bonder MJ, et al. Interplay of host genetics and gut microbiota underlying the onset and clinical presentation of inflammatory bowel disease. Gut 2018;67(1):108-119.

Spekhorst LM, Oldenburg B, van Bodegraven AA, et al.; on behalf of the Parelsnoer Institute (PSI) and the Dutch Initiative on Crohn and Colitis (ICC). Prevalence of and risk factors for work disability in Dutch patients with inflammatory bowel disease. World J Gastroenterol 2017;23(46):8182-8192.

Van Erp SJH, Verheul MK, Levarht EWN, et al. Absence of serological rheumatoid arthritis biomarkers in inflammatory bowel disease patients with arthropathies. Eur J Gastroenterol Hepatol 2017;29(3):345-348.

Spekhorst LM, Imhann F, Festen EAM, et al.; on behalf of the Parelsnoer Institute (PSI) and the Dutch Initiative on Crohn and Colitis (ICC). Cohort profile: design and first results of the Dutch IBD Biobank: a prospective, nationwide biobank of patients with inflammatory bowel disease. BMJ Open 2017;7:e016695.

Spekhorst LM, Severs M, de Boer NKH, et al.; on behalf of the Parelsnoer Institute (PSI) and the Dutch Initiative on Crohn and Colitis (ICC). The impact of ethnicity and country of birth on inflammatory bowel disease phenotype, a prospective cohort study. J Crohns Colitis 2017;11(12):1463-1470.

van Haaften WT, Mortensen JH, Karsdal MA, Bay-Jensen AC, Dijkstra G, Olinga P. Misbalance in type III collagen formation/degradation as a novel serological biomarker for penetrating (Montreal B3) Crohn's disease. Aliment Pharmacol Ther 2017;46(1):26-39.

Severs M, Mangen MJ, van der Valk ME, et al. Smoking is Associated with Higher Disease-related Costs and Lower Health-related Quality of Life in Inflammatory Bowel Disease. J Crohns Colitis 2017;11(3):342-352.

Janse IC, Koldijk MJ, Spekhorst LM, Vila AV, Weersma RK, Dijkstra G, Horváth B. Identification of clinical and genetic parameters associated with hidradenitis suppurativa in inflammatory bowel disease. Inflamm Bowel Dis 2016;22(1):106-13.

Visschedijk MC, Alberts R, Mucha S, et al. Pooled resequencing of 122 ulcerative colitis genes in a large Dutch cohort suggests population-specific associations of rare variants in MUC2. PLoS One 2016;11(8):e0159609.

Severs M, Erp SJH van, Valk ME van der, et al.; on behalf of the Dutch Initiative on Crohn and Colitis. Smoking is associated with extra-intestinal manifestations in inflammatory bowel disease. J Crohns Colitis 2016;10(4):455-461.

Cleynen I, Boucher G, Jostins L, et al. Inherited determinants of Crohn's disease and ulcerative colitis phenotypes: a genetic association study. Lancet 2016;387(10014):156-167.

Mortensen JH, Godskesen LE, Jensen MD, et al. Fragments of citrullinated and MMP-degraded vimentin and MMP-degraded type III collagen are novel serological biomarkers to differentiate Crohn's disease from ulcerative colitis. J Crohns Colitis 2015;9(10):863-72.

Spekhorst LM, Visschedijk MC, Weersma RK, Festen EA. Down the line from genome-wide association studies in inflammatory bowel disease: the resulting clinical benefits and the outlook for the future. Expert Rev Clin Immunol 2015;11(1):33-44.

Sadaghian Sadabad M, Regeling A, de Goffau MC, et al. The ATG16L1-T300A allele impairs clearance of pathosymbionts in the inflamed ileal mucosa of Crohn's disease patients. Gut 2015;64(10):1546-1552.

Cleynen I, Vazeille E, Artieda M, et al. Genetic and microbial factors modulating the ubiquitin proteasome system in inflammatory bowel disease. Gut 2014;63(8):1265-1274.

Knights D, Silverberg MS, Weersma RK, et al. Complex host genetics influence the microbiome in inflammatory bowel disease. Genome Med 2014;6(12):107.

Jharap B, de Boer NK, Stokkers P, et al. Intrauterine exposure and pharmacology of conventional thiopurine therapy in pregnant patients with inflammatory bowel disease. Gut 2014;63(3):451-457.

van Loo ES, Vosseberg NW, van der Heide F, et al. Thiopurines Are Associated with a Reduction in Surgical Re-resections in Patients with Crohn's Disease: A Long-term Follow-up Study in a Regional and Academic Cohort. Inflamm Bowel Dis 2013;19(13):2801-2808.

Harmsen HJ, Pouwels SD, Funke A, et al. Crohn's disease patients have more IgG-binding fecal bacteria than controls. Clin Vaccine Immunol 2012;19(4):515-521.

Vande Casteele N, Buurman DJ, Sturkenboom MG, et al. Detection of infliximab levels and anti-infliximab antibodies: a comparison of three different assays. Aliment Pharmacol Ther 2012;36(8):765-771.

Nijmeijer RM, Gadaleta RM, van Mil SWC, et al. Farnesoid X Receptor (FXR) activation and FXR genetic variation in inflammatory bowel disease. PLoS One 2011;6(8):e23745.

Multipele Endocriene Neoplasie (MEN)

Beek DJ van, Leeuwaarde RS van, Pieterman CRC, et al. ‘Quality in, quality out’, a stepwise approach to evidence-based medicine for rare diseases promoted by multiple endocrine neoplasia type 1. Endocrine Connections 2018;7:R260-R274.

Neurodegeneratieve hersenziekten (NDZ)

Geijselaers SLC, Aalten P, Ramakers IHGB, et al. Association of cerebrospinal fluid (CSF) insulin with cognitive performance and CSF biomarkers of Alzheimer’s disease. J Alzheimers Dis 2018;61(1):309-320.

Aalten P, Ramakers IH, Biessels GJ, et al. The Dutch Parelsnoer Institute - Neurodegenerative diseases; methods, design and baseline results. BMC Neurol 2014;14:254.

Nierfalen (NRF)

Navis GJ, Blankestijn PJ, Deegens J, et al. The Biobank of Nephrological Diseases in the Netherlands cohort: the String of Pearls Initiative collaboration on chronic kidney disease in the university medical centers in the Netherlands. Nephrol Dial Transplant 2014;29(6):1145-50.  

Oesofagus Maag tumoren (OMT)

Haverkamp L, Parry K, van Berge Henegouwen MI, et al. Esophageal and Gastric Cancer Pearl: a nationwide clinical biobanking project in the Netherlands. Dis Esophagus 2016;29:435-441.

Pancreas (PAN)

Strijker M, Gerritsen A, van Hilst J, et al. The Dutch Pancreas biobank within the Parelsnoer Institute. A nationwide biobank of pancreatic and periampullary diseases. Pancreas 2018;47:495-501.

Coebergh van den Braak RRJ, van Rijssen LB, van Kleef JJ, et al. Nationwide comprehensive gastro-intestinal cancer cohorts: the 3P initiative. Acta Oncologica 2017;57(2):195-202.

Parkinson (PAR)

De Monchy N. Nederlands Parkinson Cohort: Een unieke onderzoekssamenwerking van zeven Parkinsoncentra - Parkinson Magazine 2015;1:6-7.

Reuma (ROA)

Wier MF van, Huizinga TWJ, Brouwer E, et al. De Parel Reuma, het register en biobank voor vroege artritis patiënten van de Nederlandse UMC’s. Nederlands Tijdschrift voor Reumatologie 2016;2:32-39.




Broek M van den. Succes zit in de grote getallen. Tien jaar Parelsnoer. AMC magazine februari 2018.

Haumann R, Verspaget HW. Quality-Assured Biobanking: The Leiden University Medical Center Model. In: Clinical Metabolomics: Methods and Protocols. Methods in Molecular Biology 2018;vol. 1730 chapter 27:361-370. Martin Giera (ed.). Springer Science+Business Media, LLC.

Zielhuis G. Proeven met mensen: Biobanken. Biowetenschappen en Maatschappij 2017;36(2):69-73.

Manniën J, Ledderhof T, Verspaget HW, Snijder RR, Flikkenschild EF, Scherrenburg NPC van, Stolk RP, Zielhuis GA. The Parelsnoer Institute: a national network of standardized clinical biobanks in The Netherlands. OJB 2017;4(1):3.

Douglas CM, 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(6):736-8.

Zielhuis GA, Ledderhof TM. Het Parelsnoer Instituut, een ketting van biobanken van alle UMC’s. CaRré 2014;19(61):35-37.

Jagmohan-Changur S, van der Reijden J, Verspaget H. Parelsnoer biobank: een schatkamer voor wetenschappelijk onderzoek! De blauwdruk van het LUMC. Analyse 2013;68(10):300-305.

Buiter R. Betere medicijnen met biobank. Medicines 2013;6:16-17.

Zielhuis GA. Biobanking for Epidemiology. Public Health 2012;26(3)214-216.

Boeckhout M, van Dijk J, Legemate DA. Toetsing van biobanken: lessen uit het Parelsnoer Initiatief. Ned Tijdschr Geneeskd 2011;155:A3557. 

Talmon JL, Ros MG, Legemate DA. The Dutch Academic Infrastructure for shared biobanks for translational research. Summit on Translat Bioinforma 2008;2008:110-4.