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Lista de obras de 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

artículo científico publicado en 2010

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

artículo científico publicado el 1 de agosto de 1997

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

artículo científico publicado en 2011

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

artículo científico publicado en 2014

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

artículo científico publicado en 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

artículo científico publicado en 2017

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

artículo científico publicado el 1 de octubre de 1991

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

artículo científico publicado en 2012

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

artículo científico publicado en 2010

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

artículo científico publicado en 2017

Beyond public health genomics: proposals from an international working group

artículo científico publicado en 2014

Blame-a novel by Tony Holtzman

artículo científico publicado en 2017

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

artículo científico publicado en 2008

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

artículo científico publicado en 2012

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

artículo científico publicado en 2015

Clinical use of the analysis of the entire genome

artículo científico publicado el 1 de enero de 2011

Comment on Gialluisi et al.

artículo científico publicado en 2013

Community genetics. Its definition 2010.

artículo científico publicado en 2010

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

artículo científico publicado en 2009

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

artículo científico publicado en 2013

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

artículo científico publicado en 2014

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

artículo científico publicado en 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

artículo científico publicado en 2004

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

artículo científico publicado en 2014

Developing a policy for paediatric biobanks: principles for good practice

artículo científico publicado en 2012

Direct to consumer genetic tests

artículo científico publicado en 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

artículo científico publicado en 2010

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

artículo científico publicado en 2015

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

artículo científico publicado en 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

artículo científico publicado en 2014

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

artículo científico publicado en 2015

Ephedrine treatment for autoimmune myasthenia gravis

artículo científico publicado en 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.

artículo científico publicado en 2010

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

artículo científico publicado en 2017

Factors associated with not using folic acid supplements preconceptionally

artículo científico publicado en 2013

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

artículo científico publicado en 2016

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

artículo científico publicado en 2011

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

artículo científico publicado en 2012

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.

artículo científico publicado en 2010

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

artículo científico publicado en 2011

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

artículo científico publicado en 2009

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

artículo científico publicado en 2011

Genetic testing and common disorders in a public health framework

artículo científico publicado en 2011

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

artículo científico publicado en 2011

Genetic testing in asymptomatic minors: background considerations towards ESHG Recommendations

artículo científico publicado en 2009

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

artículo científico publicado en 2018

Genomic newborn screening: public health policy considerations and recommendations

artículo científico publicado en 2017

Genomics for all in the 21st century?

artículo científico publicado en 2017

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

artículo científico publicado en 2012

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

artículo científico publicado en 2013

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

artículo científico publicado en 2020

Human germline gene editing: Recommendations of ESHG and ESHRE.

artículo científico publicado en 2018

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

artículo científico publicado en 2013

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

artículo científico

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

artículo científico publicado en 2017

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

artículo científico publicado en 2017

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

artículo científico publicado en 2012

Influence of educational level on determinants of folic acid use.

artículo científico publicado en 2003

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

artículo científico publicado en 2014

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

artículo científico publicado en 2002

Italian appeal court: a genetic predisposition to commit murder?

artículo científico publicado en 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

artículo científico publicado en 2011

Mainstreaming informed consent for genomic sequencing: A call for action

artículo científico publicado en 2021

Maternal Plasma DNA and RNA Sequencing for Prenatal Testing

artículo científico publicado en 2016

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

artículo científico publicado en 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

artículo científico publicado en 2020

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

artículo científico publicado en 2016

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

artículo científico publicado en 2014

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

artículo científico publicado en 2012

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

artículo científico publicado en 2012

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

artículo científico publicado en 2015

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.

artículo científico publicado en 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

artículo científico publicado en 2017

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

artículo científico publicado en 2020

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

article

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

artículo científico publicado en 2014

Policy Making in Newborn Screening Needs a Structured and Transparent Approach

artículo científico publicado en 2017

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

artículo científico publicado en 2004

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

artículo científico publicado en 2011

Prevalence of congenital heart disease in patients with phenylketonuria ⬇️

artículo científico publicado el 1 de agosto de 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

artículo científico publicado en 2014

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

artículo científico publicado en 2012

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

artículo científico publicado en 2013

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

artículo científico publicado en 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

artículo científico publicado en 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

artículo científico publicado en 2013

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

artículo científico publicado en 2004

Reply to Bombard and Mighton

artículo científico publicado en 2019

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

artículo científico publicado en 2021

Responsible implementation of expanded carrier screening

artículo científico publicado en 2016

Responsible implementation of expanded carrier screening

artículo científico publicado en 2017

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

artículo científico publicado en 2018

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

artículo científico publicado en 2017

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

artículo científico publicado en 2015

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

artículo científico publicado en 2012

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

artículo científico publicado el 1 de mayo de 1992

Stakeholder Views on Active Cascade Screening for Familial Hypercholesterolemia

article

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

artículo científico publicado en 2017

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

artículo científico publicado en 2013

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

artículo científico publicado en 2020

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

artículo científico publicado en 2014

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

artículo científico publicado en 2012

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

artículo científico publicado en 2017

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

artículo científico publicado en 2012

The development of the public and professional policy committee

artículo científico publicado en 2017

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

artículo científico publicado en 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.

artículo científico publicado en 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

artículo científico publicado en 2006

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

artículo científico publicado en 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

artículo científico publicado en 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

artículo científico publicado en 2008

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

artículo científico publicado en 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

artículo científico publicado en 2014

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

artículo científico publicado en 2013

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

artículo científico publicado en 2011

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

artículo científico publicado en 2016

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

artículo científico publicado en 2017

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

artículo científico publicado en 2010

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

artículo científico publicado en 2013

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

artículo científico publicado en 2013

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

artículo científico publicado en 2015

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