Deborah Mascalzoni
Forskning om etik och policy för avancerade forskningsmetoder inom genetik och biomaterial med integrering av deltagarcentrerade metoder.
Deborah Mascalzoni är docent i biomedicinsk etik vid Uppsala Universitet och leder ELSI-forskningsgruppen vid IfB (Eurac Research, Italien). Hennes huvudsakliga forskningsintressen är de bredare konsekvenserna av genetik och ny teknik för mänskliga rättigheter, med fokus på sällsynta sjukdomar och utsatta grupper.
Deborah Mascalzoni är intresserad av etik och policy för avancerade forskningsmetoder inom genetik och biomaterial med integrering av deltagarcentrerade metoder. Hon har utsetts av WHO till ledamot i den tekniska rådgivande gruppen för genomik. Hon är fellow vid Helex Center i Oxford och har tidigare varit fellow vid Kennedy School of Government, Harvard.

Publikationer
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Ingår i JOURNAL OF LAW AND THE BIOSCIENCES, 2026
- DOI för Two-faced Janus? Consent to participate in research and consent to data processing in the EHDS era: a comparative analysis of requirements and standards in eight European countries
- Ladda ner fulltext (pdf) av Two-faced Janus? Consent to participate in research and consent to data processing in the EHDS era: a comparative analysis of requirements and standards in eight European countries
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Ingår i European Journal of Health Law, s. 314-345, 2026
- DOI för Mass-Scale G2B Data Sharing in an Emergency: between the GDPR, Data Governance Act, and European Health Data Space
- Ladda ner fulltext (pdf) av Mass-Scale G2B Data Sharing in an Emergency: between the GDPR, Data Governance Act, and European Health Data Space
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Ingår i The Lancet Oncology, 2026
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Ingår i BMC Medical Ethics, 2026
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Cohort Profile: the Cooperative Health Research in South Tyrol study
Ingår i International Journal of Epidemiology, 2025
- DOI för Cohort Profile: the Cooperative Health Research in South Tyrol study
- Ladda ner fulltext (pdf) av Cohort Profile: the Cooperative Health Research in South Tyrol study
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Framing exposure to excessive and improper lighting as light-public health
Ingår i Discover Public Health, 2025
- DOI för Framing exposure to excessive and improper lighting as light-public health
- Ladda ner fulltext (pdf) av Framing exposure to excessive and improper lighting as light-public health
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Ingår i BMC Medical Informatics and Decision Making, 2025
- DOI för Exploring doctors’ perspectives on precision medicine and AI in colorectal cancer: opportunities and challenges for the doctor-patient relationship
- Ladda ner fulltext (pdf) av Exploring doctors’ perspectives on precision medicine and AI in colorectal cancer: opportunities and challenges for the doctor-patient relationship
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Human mitochondrial DNA in public metagenomes: Opportunity or privacy threat?
Ingår i Cell, s. 2561-2566, 2025
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Ethical framework for FACILITATE: a foundation for the return of clinical trial data to participants
Ingår i Frontiers in Medicine, 2024
- DOI för Ethical framework for FACILITATE: a foundation for the return of clinical trial data to participants
- Ladda ner fulltext (pdf) av Ethical framework for FACILITATE: a foundation for the return of clinical trial data to participants
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Dynamic governance: A new era for consent for stem cell research
Ingår i Stem Cell Reports, s. 1233-1241, 2024
- DOI för Dynamic governance: A new era for consent for stem cell research
- Ladda ner fulltext (pdf) av Dynamic governance: A new era for consent for stem cell research
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Artificial Intelligence Needs Data: Challenges Accessing Italian Databases to Train AI
Ingår i Asian Bioethics Review, s. 423-435, 2024
- DOI för Artificial Intelligence Needs Data: Challenges Accessing Italian Databases to Train AI
- Ladda ner fulltext (pdf) av Artificial Intelligence Needs Data: Challenges Accessing Italian Databases to Train AI
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Ethical and social reflections on the proposed European Health Data Space
Ingår i European Journal of Human Genetics, s. 498-505, 2024
- DOI för Ethical and social reflections on the proposed European Health Data Space
- Ladda ner fulltext (pdf) av Ethical and social reflections on the proposed European Health Data Space
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The WHO genomics program of work for equitable implementation of human genomics for global health
Ingår i Nature Medicine, s. 2711-2713, 2024
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Ingår i Journal of Community Genetics, s. 615-630, 2024
- DOI för How to communicate and what to disclose to participants in a recall-by-genotype research approach: a multistep empirical study
- Ladda ner fulltext (pdf) av How to communicate and what to disclose to participants in a recall-by-genotype research approach: a multistep empirical study
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Ingår i Frontiers in Psychiatry, 2023
- DOI för Editorial: Digital biomarkers in testing the safety and efficacy of new drugs in mental health: A collaborative effort of patients, clinicians, researchers, and regulators
- Ladda ner fulltext (pdf) av Editorial: Digital biomarkers in testing the safety and efficacy of new drugs in mental health: A collaborative effort of patients, clinicians, researchers, and regulators
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Ingår i BMC Medical Informatics and Decision Making, 2023
- DOI för Precision cancer medicine and the doctor-patient relationship: a systematic review and narrative synthesis
- Ladda ner fulltext (pdf) av Precision cancer medicine and the doctor-patient relationship: a systematic review and narrative synthesis
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Ingår i European Journal of Human Genetics, s. 1218-1227, 2023
- DOI för Participant perspective on the recall-by-genotype research approach: a mixed-method embedded study with participants of the CHRIS study
- Ladda ner fulltext (pdf) av Participant perspective on the recall-by-genotype research approach: a mixed-method embedded study with participants of the CHRIS study
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Ingår i Journal of Medical Internet Research, 2023
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Genetic Testing in Parkinson's Disease
Ingår i Movement Disorders, s. 1384-1396, 2023
- DOI för Genetic Testing in Parkinson's Disease
- Ladda ner fulltext (pdf) av Genetic Testing in Parkinson's Disease
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International Genetic Testing and Counseling Practices for Parkinson's Disease.
Ingår i Movement Disorders, s. 1527-1535, 2023
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Ingår i Pathogens and Global Health, s. 128-136, 2022
- DOI för Prospective epidemiological, molecular, and genetic characterization of a novel coronavirus disease in the Val Venosta/Vinschgau: the CHRIS COVID-19 study protocol
- Ladda ner fulltext (pdf) av Prospective epidemiological, molecular, and genetic characterization of a novel coronavirus disease in the Val Venosta/Vinschgau: the CHRIS COVID-19 study protocol
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Ingår i Genetics in Medicine, s. 1120-1129, 2022
- DOI för Return of genomic results does not motivate intent to participate in research for all: Perspectives across 22 countries
- Ladda ner fulltext 1 (pdf) av Return of genomic results does not motivate intent to participate in research for all: Perspectives across 22 countries
- Ladda ner fulltext 2 (pdf) av Return of genomic results does not motivate intent to participate in research for all: Perspectives across 22 countries
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Ingår i Frontiers in Genetics, 2022
- DOI för Appropriate Safeguards and Article 89 of the GDPR: Considerations for Biobank, Databank and Genetic Research
- Ladda ner fulltext (pdf) av Appropriate Safeguards and Article 89 of the GDPR: Considerations for Biobank, Databank and Genetic Research
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Digital Biomarkers in Psychiatric Research: Data Protection Qualifications in a Complex Ecosystem
Ingår i Frontiers in Psychiatry, 2022
- DOI för Digital Biomarkers in Psychiatric Research: Data Protection Qualifications in a Complex Ecosystem
- Ladda ner fulltext (pdf) av Digital Biomarkers in Psychiatric Research: Data Protection Qualifications in a Complex Ecosystem
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What ethical approaches are used by scientists when sharing health data?: An interview study
Ingår i BMC Medical Ethics, 2022
- DOI för What ethical approaches are used by scientists when sharing health data?: An interview study
- Ladda ner fulltext (pdf) av What ethical approaches are used by scientists when sharing health data?: An interview study
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Ingår i Communications Biology, 2022
- DOI för Differential and shared genetic effects on kidney function between diabetic and non-diabetic individuals
- Ladda ner fulltext (pdf) av Differential and shared genetic effects on kidney function between diabetic and non-diabetic individuals
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Clinical relevance and translational impact of reduced penetrance in genetic movement disorders
Ingår i Medizinische Genetik, s. 151-156, 2022
- DOI för Clinical relevance and translational impact of reduced penetrance in genetic movement disorders
- Ladda ner fulltext (pdf) av Clinical relevance and translational impact of reduced penetrance in genetic movement disorders
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Ingår i European Journal of Human Genetics, s. 1000-1010, 2022
- DOI för Ethical, legal and social/societal implications (ELSI) of recall-by-genotype (RbG) and genotype-driven-research (GDR) approaches: a scoping review
- Ladda ner fulltext (pdf) av Ethical, legal and social/societal implications (ELSI) of recall-by-genotype (RbG) and genotype-driven-research (GDR) approaches: a scoping review
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Ten years of dynamic consent in the CHRIS study: informed consent as a dynamic process
Ingår i European Journal of Human Genetics, s. 1391-1397, 2022
- DOI för Ten years of dynamic consent in the CHRIS study: informed consent as a dynamic process
- Ladda ner fulltext (pdf) av Ten years of dynamic consent in the CHRIS study: informed consent as a dynamic process
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Italians locked down: people's responses to early COVID-19 pandemic public health measures
Ingår i Humanities and Social Sciences Communications, 2022
- DOI för Italians locked down: people's responses to early COVID-19 pandemic public health measures
- Ladda ner fulltext (pdf) av Italians locked down: people's responses to early COVID-19 pandemic public health measures
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Ingår i Human Mutation, s. 717-733, 2022
- DOI för The RD-Connect Genome-Phenome Analysis Platform: Accelerating diagnosis, research, and gene discovery for rare diseases
- Ladda ner fulltext (pdf) av The RD-Connect Genome-Phenome Analysis Platform: Accelerating diagnosis, research, and gene discovery for rare diseases
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Ingår i Technology in society, s. 101625-101625, 2021
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Law, Genetics and Genomics: An Unfolding Relationship
Ingår i BioLaw Journal - Rivista di BioDiritto, s. 1-5, 2021
- DOI för Law, Genetics and Genomics: An Unfolding Relationship
- Ladda ner fulltext (pdf) av Law, Genetics and Genomics: An Unfolding Relationship
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The commercial genetic testing landscape for Parkinson's disease
Ingår i Parkinsonism & Related Disorders, s. 107-111, 2021
- DOI för The commercial genetic testing landscape for Parkinson's disease
- Ladda ner fulltext (pdf) av The commercial genetic testing landscape for Parkinson's disease
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Ingår i Epidemiology and Infection, 2021
- DOI för Prevalence and determinants of serum antibodies to SARS-CoV-2 in the general population of the Gardena valley
- Ladda ner fulltext (pdf) av Prevalence and determinants of serum antibodies to SARS-CoV-2 in the general population of the Gardena valley
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Ingår i International Journal of Medical Informatics, 2021
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Ingår i Parkinsonism & Related Disorders, s. 101-104, 2021
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Ingår i Wellcome Open Research, 2021
- DOI för Italian public's views on sharing genetic information and medical information: findings from the ‘Your DNA, Your Say’ study
- Ladda ner fulltext (pdf) av Italian public's views on sharing genetic information and medical information: findings from the ‘Your DNA, Your Say’ study
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Ingår i Genome Medicine, 2021
- DOI för Demonstrating trustworthiness when collecting and sharing genomic data: public views across 22 countries
- Ladda ner fulltext (pdf) av Demonstrating trustworthiness when collecting and sharing genomic data: public views across 22 countries
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Ingår i European Journal of Human Genetics, s. 1146-1157, 2021
- DOI för Balancing scientific interests and the rights of participants in designing a recall by genotype study
- Ladda ner fulltext (pdf) av Balancing scientific interests and the rights of participants in designing a recall by genotype study
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Ingår i Biomolecules, 2021
- DOI för Genetic and Metabolic Determinants of Atrial Fibrillation in a General Population Sample: The CHRIS Study
- Ladda ner fulltext (pdf) av Genetic and Metabolic Determinants of Atrial Fibrillation in a General Population Sample: The CHRIS Study
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Mapping the human genetic architecture of COVID-19
Ingår i Nature, s. 472-477, 2021
- DOI för Mapping the human genetic architecture of COVID-19
- Ladda ner fulltext (pdf) av Mapping the human genetic architecture of COVID-19
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Ingår i Journal of Community Genetics, s. 577-592, 2021
- DOI för Return of research results (RoRR) to the healthy CHRIS cohort: designing a policy with the participants
- Ladda ner fulltext (pdf) av Return of research results (RoRR) to the healthy CHRIS cohort: designing a policy with the participants
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Ingår i BIOLAW JOURNAL-RIVISTA DI BIODIRITTO, s. 277-287, 2021
- DOI för The dynamic consent of the Cooperative Health Research in South Tyrol (CHRIS) study: broad aim within specific oversight and communication
- Ladda ner fulltext (pdf) av The dynamic consent of the Cooperative Health Research in South Tyrol (CHRIS) study: broad aim within specific oversight and communication
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Governance of Access in Biobanking: The Case of Telethon Network of Genetic Biobanks
Ingår i Biopreservation and Biobanking, s. 483-492, 2021
- DOI för Governance of Access in Biobanking: The Case of Telethon Network of Genetic Biobanks
- Ladda ner fulltext (pdf) av Governance of Access in Biobanking: The Case of Telethon Network of Genetic Biobanks
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Preferences of the Public for Sharing Health Data: Discrete Choice Experiment
Ingår i JMIR Medical Informatics, 2021
- DOI för Preferences of the Public for Sharing Health Data: Discrete Choice Experiment
- Ladda ner fulltext (pdf) av Preferences of the Public for Sharing Health Data: Discrete Choice Experiment
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Ingår i American Journal of Human Genetics, s. 743-752, 2020
- DOI för Global Public Perceptions of Genomic Data Sharing: What Shapes the Willingness to Donate DNA and Health Data?
- Ladda ner fulltext (pdf) av Global Public Perceptions of Genomic Data Sharing: What Shapes the Willingness to Donate DNA and Health Data?
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The case for open science: rare diseases
Ingår i JAMIA Open, s. 472-486, 2020
- DOI för The case for open science: rare diseases
- Ladda ner fulltext (pdf) av The case for open science: rare diseases
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Ingår i Annals of Internal Medicine, s. 332-334, 2019
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Ingår i PLOS ONE, 2019
- DOI för Data in question: A survey of European biobank professionals on ethical, legal and societal challenges of biobank research
- Ladda ner fulltext (pdf) av Data in question: A survey of European biobank professionals on ethical, legal and societal challenges of biobank research
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Ingår i Journal of Translational Medicine, 2019
- DOI för Microbiota, type 2 diabetes and non-alcoholic fatty liver disease: protocol of an observational study
- Ladda ner fulltext (pdf) av Microbiota, type 2 diabetes and non-alcoholic fatty liver disease: protocol of an observational study
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Ingår i European Journal of Human Genetics, s. 1159-1167, 2019
- DOI för The GDPR and the research exemption: considerations on the necessary safeguards for research biobanks
- Ladda ner fulltext (pdf) av The GDPR and the research exemption: considerations on the necessary safeguards for research biobanks
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Ingår i Journal of Community Genetics, s. 169-176, 2018
- DOI för How to responsibly acknowledge research work in the era of big data and biobanks: ethical aspects of the Bioresource Research Impact Factor (BRIF).
- Ladda ner fulltext (pdf) av How to responsibly acknowledge research work in the era of big data and biobanks: ethical aspects of the Bioresource Research Impact Factor (BRIF).
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Recommendations for Improving the Quality of Rare Disease Registries
Ingår i International Journal of Environmental Research and Public Health, 2018
- DOI för Recommendations for Improving the Quality of Rare Disease Registries
- Ladda ner fulltext (pdf) av Recommendations for Improving the Quality of Rare Disease Registries
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Ingår i International Journal of Environmental Research and Public Health, 2018
- DOI för Meeting Patients' Right to the Correct Diagnosis: Ongoing International Initiatives on Undiagnosed Rare Diseases and Ethical and Social Issues
- Ladda ner fulltext (pdf) av Meeting Patients' Right to the Correct Diagnosis: Ongoing International Initiatives on Undiagnosed Rare Diseases and Ethical and Social Issues
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Ingår i Journal of Community Genetics, s. 177-190, 2018
- DOI för Legal issues in governing genetic biobanks: the Italian framework as a case study for the implications for citizen's health through public-private initiatives.
- Ladda ner fulltext (pdf) av Legal issues in governing genetic biobanks: the Italian framework as a case study for the implications for citizen's health through public-private initiatives.
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The challenges of the expanded availability of genomic information: an agenda-setting paper.
Ingår i Journal of Community Genetics, s. 103-116, 2018
- DOI för The challenges of the expanded availability of genomic information: an agenda-setting paper.
- Ladda ner fulltext (pdf) av The challenges of the expanded availability of genomic information: an agenda-setting paper.
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Reverse Discrimination For Psychiatric Genetic Studies In Population-Based Biobanks
Ingår i European Neuropsychopharmacology, 2017
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The Role of Solidarity(-ies) in Rare Diseases Research
Ingår i Advances in Experimental Medicine and Biology, s. 589-604, 2017
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Dynamic Consent: a potential solution to some of the challenges of modern biomedical research
Ingår i BMC Medical Ethics, 2017
- DOI för Dynamic Consent: a potential solution to some of the challenges of modern biomedical research
- Ladda ner fulltext (pdf) av Dynamic Consent: a potential solution to some of the challenges of modern biomedical research
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Ingår i European Journal of Human Genetics, s. 1248-1254, 2016
- DOI för Improving the informed consent process in international collaborative rare disease research: effective consent for effective research
- Ladda ner fulltext (pdf) av Improving the informed consent process in international collaborative rare disease research: effective consent for effective research
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Collaboration to Understand Complex Diseases: Preeclampsia and Adverse Pregnancy Outcomes
Ingår i Hypertension, s. 681-687, 2016
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Higher cardiogenic potential of iPSCs derived from cardiac versus skin stromal cells
Ingår i Frontiers in Bioscience, s. 719-43, 2016
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Feedback of Individual Genetic Results to Research Participants: Is It Feasible in Europe?
Ingår i Biopreservation and Biobanking, s. 241-248, 2016
- DOI för Feedback of Individual Genetic Results to Research Participants: Is It Feasible in Europe?
- Ladda ner fulltext (pdf) av Feedback of Individual Genetic Results to Research Participants: Is It Feasible in Europe?
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Ingår i European Journal of Human Genetics, s. 1403-1408, 2016
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International Charter of principles for sharing bio-specimens and data
Ingår i European Journal of Human Genetics, s. 721-728, 2015
- DOI för International Charter of principles for sharing bio-specimens and data
- Ladda ner fulltext (pdf) av International Charter of principles for sharing bio-specimens and data
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Ingår i Journal of Translational Medicine, 2015
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Ethics, Law and Governance of Biobanking: National, European and International Approaches
Springer, 2015
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Rare disease research: Breaking the privacy barrier
Ingår i Applied & Translational Genomics, s. 23-29, 2014
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Practical barriers and ethical challenges in genetic data sharing
Ingår i International Journal of Environmental Research and Public Health, s. 8383-8398, 2014
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Ingår i Research Ethics, s. 52-54, 2014
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Perspectives on Open Science and scientific data sharing: an interdisciplinary workshop
Ingår i J ANTHROPOL SCI, s. 179-200, 2014
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Ingår i Biopreservation and Biobanking, s. 225-233, 2014
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Rare diseases and now rare data?
Ingår i Nature reviews genetics, s. 372-372, 2013
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Rare diseases and now rare data?
Ingår i Nature reviews genetics, s. 372, 2013
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From patients to partners: participant-centric initiatives in biomedical research.
Ingår i Nature reviews genetics, s. 371-6, 2012
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Ingår i Studies in Ethics, Law, and Technology, s. 1-2, 2012
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Informed consent in the genomics era.
Ingår i PLoS Medicine, 2008
Undervisning
- Biomedicinsk etik
- Bioetik
- Miljöetik
Doktorandhandledare
- Katharina Tschigg