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List of works by Martina C. Cornel

"I am pregnant and my husband has diabetes. Is there a risk for my child?" A qualitative study of questions asked by email about the role of genetic susceptibility to diabetes

scientific article

A Demographic Approach to the Assessment of Down Syndrome Screening Performance ⬇️

scientific article published on 01 August 1997

A case study of haemoglobinopathy screening in the Netherlands: witnessing the past, lessons for the future

scientific article

A decade of molecular genetic testing for MODY: a retrospective study of utilization in The Netherlands

scientific article published on 16 April 2014

A framework to start the debate on neonatal screening policies in the EU: an Expert Opinion Document

scientific article published on 08 May 2013

A response to the forensic genetics policy initiative’s report “Establishing Best Practice for Forensic DNA Databases”

article

Accuracy of family history of cancer: clinical genetic implications

article published in 2000

Aggregated N-of-1 trials for unlicensed medicines for small populations: an assessment of a trial with ephedrine for myasthenia gravis

scientific article

Association between holoprosencephaly and exposure to topical retinoids: results of the EUROCAT survey ⬇️

scientific article published on 01 October 1991

Attitudes of general practitioners and midwives towards ethnicity-based haemoglobinopathy-carrier screening

scientific article

Autosomal recessive disease in children of consanguineous parents: inferences from the proportion of compound heterozygotes

scientific article published on 25 February 2010

Barriers and Facilitating Factors for Implementation of Genetic Services: A Public Health Perspective

scientific article

Beyond public health genomics: proposals from an international working group

scientific article

Blame-a novel by Tony Holtzman

scientific article published on 14 September 2017

CFTR mutations in Turkish and North African cystic fibrosis patients in Europe: implications for screening

scientific article published on March 2008

Challenges in the care for consanguineous couples: an exploratory interview study among general practitioners and midwives

scientific article

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

scientific article published on 28 September 2015

Clinical use of the analysis of the entire genome

scientific article published on 01 January 2011

Comment on Gialluisi et al.

scientific article published on 17 July 2013

Community genetics. Its definition 2010.

scientific article

Congenital anomalies in Amsterdam: results of the 'Amsterdam-Born Children and their Development' study

scientific article published in January 2009

Consanguineous marriage and reproductive risk: attitudes and understanding of ethnic groups practising consanguinity in Western society

scientific article published on 07 August 2013

Consanguinity and endogamy in the Netherlands: demographic and medical genetic aspects

scientific article

Crossing the boundary between research and health care: P3G policy statement on return of results from population studies ⬇️

scientific article published on July 25, 2012

Current issues in medically assisted reproduction and genetics in Europe: research, clinical practice, ethics, legal issues and policy

article

Current practice and future interest of GPs and prospective parents in pre-conception care in The Netherlands

scientific article published on June 2004

Developing a framework for implementation of genetic services: learning from examples of testing for monogenic forms of common diseases

scientific article

Developing a policy for paediatric biobanks: principles for good practice

scientific article

Direct to consumer genetic tests

scientific article published on 29 April 2009

Do consanguineous parents of a child affected by an autosomal recessive disease have more DNA identical-by-descent than similarly-related parents with healthy offspring? Design of a case-control study

scientific article

ESHG PPPC Comments on postmortem use of genetic data for research purposes

scientific article published on 08 October 2019

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

scientific article

Effectiveness of oncogenetics training on general practitioners' consultation skills: a randomized controlled trial

scientific article published on 30 May 2013

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

scientific article published on 27 May 2014

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

scientific article published on 16 July 2015

Ephedrine treatment for autoimmune myasthenia gravis

scientific article published on 18 November 2016

European recommendations integrating genetic testing into multidisciplinary management of sudden cardiac death

article published in 2019

Evaluation of population newborn screening practices for rare disorders in member states of the European Union.

scientific article published on 19 October 2010

Experiences of a High-Risk Population with Prenatal Hemoglobinopathy Carrier Screening in a Primary Care Setting: a Qualitative Study

scientific article published on 5 October 2017

Factors associated with not using folic acid supplements preconceptionally

scientific article published on 10 October 2013

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

scientific article

Family communication as strategy in diabetes prevention: an observational study in families with Dutch and Surinamese South-Asian ancestry

scientific article

From rationing to rationality: an n-of-one trial service for off-label medicines for rare (neuromuscular) diseases.

scientific article

GenEthics and religion: Editors: Georg Pfleiderer, Gabriella Brahier, Basel, Switzerland; Klaus Lindpaintner, Newark, USA. 154 pages, hard cover, 2010, Karger, Basel, Switzerland. ISBN 978 3 8055 8973 4.

scientific article published in September 2010

Genetic educational needs and the role of genetics in primary care: a focus group study with multiple perspectives

scientific article

Genetic horoscopes: is it all in the genes? Points for regulatory control of direct-to-consumer genetic testing

scientific article

Genetic screening and democracy: lessons from debating genetic screening criteria in the Netherlands

scientific article published on 30 August 2011

Genetic testing and common disorders in a public health framework

scientific article

Genetic testing and common disorders in a public health framework: how to assess relevance and possibilities. Background Document to the ESHG recommendations on genetic testing and common disorders

scientific article

Genetic testing in asymptomatic minors: background considerations towards ESHG Recommendations

scientific article

Genome-wide sequencing in acutely ill infants: genomic medicine's critical application?

scientific article published on 12 June 2018

Genomic newborn screening: public health policy considerations and recommendations

scientific article

Genomics for all in the 21st century?

scientific article published on 14 September 2017

Governing biological material at the intersection of care and research: the use of dried blood spots for biobanking

scientific article

Health care providers' perspective on using family history in the prevention of type 2 diabetes: a qualitative study including different disciplines

scientific article

How will new genetic technologies, such as gene editing, change reproductive decision-making? Views of high-risk couples

scientific article published on 09 August 2020

Human germline gene editing: Recommendations of ESHG and ESHRE.

scientific article published on 12 January 2018

Illness representations of type 2 diabetes patients are associated with perceptions of diabetes threat in relatives

scientific article published on 11 February 2013

Implementation of preconceptional carrier screening for cystic fibrosis and haemoglobinopathies: a sociotechnical analysis

scientific article published on 21 March 2007

Implementing genetic education in primary care: the Gen-Equip programme

scientific article published on 13 March 2017

Implementing non-invasive prenatal testing for aneuploidy in a national healthcare system: global challenges and national solutions

scientific article published on 19 September 2017

Improving test properties for neonatal cystic fibrosis screening in the Netherlands before the nationwide start by May 1st 2011

scientific article

Increasing awareness of and behaviour towards periconceptional folic acid consumption in The Netherlands from 1994 to 1995 ⬇️

scientific article published on 01 June 1998

Influence of educational level on determinants of folic acid use.

scientific article published on July 2003

Information should be given on consanguinity as a risk factor for congenital malformations

scientific article

Is there an association between maternal carbamazepine use during pregnancy and eye malformations in the child?

scientific article

Italian appeal court: a genetic predisposition to commit murder?

scientific article published on 10 March 2010

Key Implications of Data Sharing in Pediatric Genomics

article by Vasiliki Rahimzadeh et al published 1 May 2018 in JAMA Pediatrics

Lay perceptions of predictive testing for diabetes based on DNA test results versus family history assessment: a focus group study

scientific article

Mainstreaming informed consent for genomic sequencing: A call for action

scientific article published on 27 March 2021

Maternal Plasma DNA and RNA Sequencing for Prenatal Testing

scientific article published on 21 January 2016

Maternal smoking and deformities of the foot: results of the EUROCAT Study. European Registries of Congenital Anomalies ⬇️

scientific article published on 01 October 1998

Monitoring of risk factor/outcome combinations: a valuable supplement to birth defect monitoring ⬇️

scientific article published on January 1, 1992

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

scientific article published on 19 November 2015

Moving towards a cure in genetics: what is needed to bring somatic gene therapy to the clinic?

scientific article published on 19 December 2018

Neonatal and carrier screening for rare diseases: how innovation challenges screening criteria worldwide

scientific article published on 19 October 2020

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

scientific article published on 26 June 2016

Newborn screening for pompe disease? a qualitative study exploring professional views

scientific article

Newborn screening programmes in Europe; arguments and efforts regarding harmonization. Part 1. From blood spot to screening result

scientific article published on 3 May 2012

Newborn screening programmes in Europe; arguments and efforts regarding harmonization. Part 2. From screening laboratory results to treatment, follow-up and quality assurance

scientific article

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

scientific article

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

article

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

Older mothers and increased impact of prenatal screening: stable livebirth prevalence of trisomy 21 in the Netherlands for the period 2000-2013.

scientific article published on 12 January 2018

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

scientific article published on 30 November 2017

Opportunistic genomic screening. Recommendations of the European Society of Human Genetics

scientific article published on 22 November 2020

Outcomes of pregnancies diagnosed with Klinefelter syndrome: the possible influence of health professionals†

article

Ovulation-inducing drugs: a drug utilization and risk study in the Dutch population ⬇️

scientific article published on 01 January 1992

Points to consider for prioritizing clinical genetic testing services: a European consensus process oriented at accountability for reasonableness

scientific article

Policy Making in Newborn Screening Needs a Structured and Transparent Approach

scientific article published on 21 March 2017

Preconceptional cystic fibrosis carrier screening: attitudes and intentions of the target population

scientific article published in January 2004

Preconceptional genetic carrier testing and the commercial offer directly-to-consumers

scientific article

Prevalence of congenital heart disease in patients with phenylketonuria ⬇️

scientific article published on 01 August 1991

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

scientific article

Prioritization of future genetics education for general practitioners: a Delphi study

scientific article published on 05 January 2012

Proposed roadmap to stepwise integration of genetics in family medicine and clinical research ⬇️

scientific article published on February 16, 2013

Public attitudes towards genetic testing revisited: comparing opinions between 2002 and 2010

scientific article published on 19 December 2012

Public support for neonatal screening for Pompe disease, a broad-phenotype condition ⬇️

scientific article published on March 14, 2012

Raising awareness of carrier testing for hereditary haemoglobinopathies in high-risk ethnic groups in the Netherlands: a pilot study among the general public and primary care providers

scientific article published on 15 September 2009

Recontacting Pediatric Research Participants for Consent When They Reach the Age of Majority

Recontacting patients in clinical genetics services: recommendations of the European Society of Human Genetics

Reflecting on earlier experiences with unsolicited findings: points to consider for next-generation sequencing and informed consent in diagnostics

scientific article

Renal defects and limb deficiencies in 197 infants: is it possible to define the "acrorenal syndrome"?

scientific article published in August 2004

Reply to Bombard and Mighton

scientific article published on 18 January 2019

Response to letter entitled: Re: Mainstreaming informed consent for genomic sequencing: A call for action

scientific article published on 12 August 2021

Responsible implementation of expanded carrier screening

scientific article published on 16 March 2016

Responsible implementation of expanded carrier screening

scientific article published on November 2017

Responsible innovation in human germline gene editing: Background document to the recommendations of ESHG and ESHRE.

scientific article

Review of the Reported Measures of Clinical Validity and Clinical Utility as Arguments for the Implementation of Pharmacogenetic Testing: A Case Study of Statin-Induced Muscle Toxicity

scientific article published on 23 August 2017

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

scientific article published on 26 October 2015

Severely impaired health status at diagnosis of Pompe disease: a cross-sectional analysis to explore the potential utility of neonatal screening.

scientific article

Some epidemiological data on oral clefts in the northern Netherlands, 1981–1988 ⬇️

scientific article published on May 1, 1992

Stakeholder Views on Active Cascade Screening for Familial Hypercholesterolemia

article

Stakeholder perspectives on the implementation of genetic carrier screening in a changing landscape

scientific article

Sustained effects of online genetics education: a randomized controlled trial on oncogenetics

scientific article published on 14 August 2013

Systematic scoping review of the concept of 'genetic identity' and its relevance for germline modification

scientific article published on 24 January 2020

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

scientific article

The challenge of implementing genetic tests with clinical utility while avoiding unsound applications

scientific article published on 9 October 2012

The challenges of the expanded availability of genomic information: an agenda-setting paper

scientific article published on 26 September 2017

The changing landscape of genetic testing and its impact on clinical and laboratory services and research in Europe

scientific article published on 28 March 2012

The development of the public and professional policy committee

scientific article published in December 2017

The ethics of clinical applications of germline genome modification: a systematic review of reasons

scientific article published on 01 September 2018

The expansion of newborn screening: is reproductive benefit an appropriate pursuit?

The interface between assisted reproductive technologies and genetics: technical, social, ethical and legal issues

scientific article published in May 2006

The interface between medically assisted reproduction and genetics: technical, social, ethical and legal issues*

article

The potential of the European network of congenital anomaly registers (EUROCAT) for drug safety surveillance: a descriptive study

scientific article (publication date: September 2006)

The promises of genomic screening: building a governance infrastructure. Special issue: genetics and democracy

scientific article published on 7 July 2011

The use of PROMs and shared decision-making in medical encounters with patients: An opportunity to deliver value-based health care to patients

scientific article published on 15 December 2019

The use of birth defect registries for etiological research: a review

scientific article published on January 2002

Three-month follow-up of Western and non-Western participants in a study on preconceptional ancestry-based carrier couple screening for cystic fibrosis and hemoglobinopathies in the Netherlands

scientific article published in November 2008

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

scientific article published on 3 June 2015

Translational research in genomics of Alzheimer's disease: a review of current practice and future perspectives

scientific article published on January 2010

Trends in genetic patent applications: the commercialization of academic intellectual property

scientific article

Using web-based familial risk information for diabetes prevention: a randomized controlled trial

scientific article

Validation of self-reported folic acid use in a multiethnic population: results of the Amsterdam Born Children and their Development study

scientific article

What Do Parents of Children with Down Syndrome Think about Non-Invasive Prenatal Testing (NIPT)?

scientific article

What do people want to know about NIPT? Content analysis of questions emailed to national NIPT information websites

scientific article

Where are you going, where have you been: a recent history of the direct-to-consumer genetic testing market

scientific article

Whole-genome sequencing in health care. Recommendations of the European Society of Human Genetics

scientific article

Whole-genome sequencing in health care: recommendations of the European Society of Human Genetics

scientific article

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

scientific article published on 28 January 2015

Women's opinions on the use of folic acid ⬇️

scientific article published on January 1, 1995

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