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Items: 1 to 20 of 211

1.

Factors for successful implementation of population-based expanded carrier screening: learning from existing initiatives.

Holtkamp KC, Mathijssen IB, Lakeman P, van Maarle MC, Dondorp WJ, Henneman L, Cornel MC.

Eur J Public Health. 2016 Aug 2. pii: ckw110. [Epub ahead of print]

2.

Newborn Screening Programmes in Europe, Arguments and Efforts Regarding Harmonisation: Focus on Organic Acidurias.

Hörster F, Kölker S, Loeber JG, Cornel MC, Hoffmann GF, Burgard P.

JIMD Rep. 2016 Jun 26. [Epub ahead of print]

PMID:
27344647
3.

Maternal Plasma DNA and RNA Sequencing for Prenatal Testing.

Tamminga S, van Maarle M, Henneman L, Oudejans CB, Cornel MC, Sistermans EA.

Adv Clin Chem. 2016;74:63-102. doi: 10.1016/bs.acc.2015.12.004. Epub 2016 Jan 21. Review.

PMID:
27117661
4.

Responsible implementation of expanded carrier screening.

Henneman L, Borry P, Chokoshvili D, Cornel MC, van El CG, Forzano F, Hall A, Howard HC, Janssens S, Kayserili H, Lakeman P, Lucassen A, Metcalfe SA, Vidmar L, de Wert G, Dondorp WJ, Peterlin B.

Eur J Hum Genet. 2016 Jun;24(6):e1-e12. doi: 10.1038/ejhg.2015.271. Epub 2016 Mar 16.

5.

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

van Teeffelen SR, Douglas CM, van El CG, Weinreich SS, Henneman L, Radstake M, Cornel MC.

Public Health Genomics. 2016;19(1):25-33. doi: 10.1159/000441516. Epub 2015 Nov 19.

6.

[Pharmacogenetics in primary health care: implementation and future expectations].

Houwink EJ, Rigter T, Swen JJ, Cornel MC, Kienhuis A, Rodenburg W, Weda M.

Ned Tijdschr Geneeskd. 2015;159:A9204. Dutch.

PMID:
26507063
7.

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

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.

Eur J Hum Genet. 2015 Nov;23(11):1592. doi: 10.1038/ejhg.2015.109. No abstract available.

8.

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

Tamminga S, van Schendel RV, Rommers W, Bilardo CM, Pajkrt E, Dondorp WJ, van Maarle M, Cornel MC, Henneman L.

Prenat Diagn. 2015 Dec;35(13):1316-23. doi: 10.1002/pd.4697. Epub 2015 Oct 25.

PMID:
26411372
9.

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

Kelmemi W, Teeuw 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.

BMC Med Genet. 2015 Jul 20;16:50. doi: 10.1186/s12881-015-0191-0.

10.

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

Wijdenes M, Henneman L, Dondorp WJ, Cornel MC, Timmermans DR.

Public Health. 2016 Jan;130:87-90. doi: 10.1016/j.puhe.2015.06.003. Epub 2015 Jul 14. No abstract available.

PMID:
26187586
11.

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

Vrinten C, Lipka AF, van Zwet EW, Schimmel KJ, Cornel MC, Kuijpers MR, Hekster YA, Weinreich SS, Verschuuren JJ.

BMJ Open. 2015 Jul 16;5(7):e007863. doi: 10.1136/bmjopen-2015-007863.

12.

Towards a European consensus for reporting incidental findings during clinical NGS testing.

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.

Eur J Hum Genet. 2015 Dec;23(12):1601-6. doi: 10.1038/ejhg.2015.111. Epub 2015 Jun 3.

PMID:
26036857
13.
14.

Effect of comprehensive oncogenetics training interventions for general practitioners, evaluated at multiple performance levels.

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.

PLoS One. 2015 Apr 2;10(4):e0122648. doi: 10.1371/journal.pone.0122648. eCollection 2015.

15.

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

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.

Eur J Hum Genet. 2015 Apr 1. doi: 10.1038/ejhg.2015.56. [Epub ahead of print] No abstract available.

16.

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

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; European Society of Human Genetics; American Society of Human Genetics.

Eur J Hum Genet. 2015 Nov;23(11):1438-50. doi: 10.1038/ejhg.2015.57. Epub 2015 Mar 18. Erratum in: Eur J Hum Genet. 2015 Nov;23(11):1592.

17.

A genetic diagnosis of maturity-onset diabetes of the young (MODY): experiences of patients and family members.

Bosma AR, Rigter T, Weinreich SS, Cornel MC, Henneman L.

Diabet Med. 2015 Oct;32(10):1385-92. doi: 10.1111/dme.12742. Epub 2015 Mar 28.

PMID:
25763774
18.

Whole-genome sequencing in newborn screening? A statement on the continued importance of targeted approaches in newborn screening programmes.

Howard HC, Knoppers BM, Cornel MC, Wright Clayton E, Sénécal K, Borry P; European Society of Human Genetics; P3G International Paediatric Platform; Human Genome Organisation; and the PHG Foundation.

Eur J Hum Genet. 2015 Dec;23(12):1593-600. doi: 10.1038/ejhg.2014.289. Epub 2015 Jan 28.

19.

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

Henneman L, McBride CM, Cornel MC, Duquette D, Qureshi N.

Healthcare (Basel). 2015 Oct 26;3(4):1018-30. doi: 10.3390/healthcare3041018.

20.

The Dutch national summit on preconception care: a summary of definitions, evidence and recommendations.

Temel S, van Voorst SF, de Jong-Potjer LC, Waelput AJ, Cornel MC, de Weerd SR, Denktaş S, Steegers EA.

J Community Genet. 2015 Jan;6(1):107-15. doi: 10.1007/s12687-014-0204-2. Epub 2014 Nov 14. No abstract available.

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