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Author Details

Deborah Mascalzoni
Institute for Biomedicine (Affiliated Institute of the University of Lubeck)
2007
57
21
PMIDPaper TitleJournal TitlePublished Year
36599941Participant perspective on the recall-by-genotype research approach: a mixed-method embedded study with participants of the CHRIS study.Eur J Hum Genet2023
37995125Public Preferences for Digital Health Data Sharing: Discrete Choice Experiment Study in 12 European Countries.J Med Internet Res2023
37310233International Genetic Testing and Counseling Practices for Parkinson's Disease.Mov Disord2023
37365908Genetic Testing in Parkinson's Disease.Mov Disord2023
36713923Editorial: Digital biomarkers in testing the safety and efficacy of new drugs in mental health: A collaborative effort of patients, clinicians, researchers, and regulators.Front Psychiatry2023
34637685Prospective epidemiological, molecular, and genetic characterization of a novel coronavirus disease in the Val Venosta/Vinschgau: the CHRIS COVID-19 study protocol.Pathog Glob Health2022
35410285What ethical approaches are used by scientists when sharing health data? An interview study.BMC Med Ethics2022
35705790Ethical, legal and social/societal implications (ELSI) of recall-by-genotype (RbG) and genotype-driven-research (GDR) approaches: a scoping review.Eur J Hum Genet2022
35697829Differential and shared genetic effects on kidney function between diabetic and non-diabetic individuals.Commun Biol2022
35757212Digital Biomarkers in Psychiatric Research: Data Protection Qualifications in a Complex Ecosystem.Front Psychiatry2022
36212915Italians locked down: people's responses to early COVID-19 pandemic public health measures.Humanit Soc Sci Commun2022
36064788Ten years of dynamic consent in the CHRIS study: informed consent as a dynamic process.Eur J Hum Genet2022
35251121Appropriate Safeguards and Article 89 of the GDPR: Considerations for Biobank, Databank and Genetic Research.Front Genet2022
35125311Return of genomic results does not motivate intent to participate in research for all: Perspectives across 22 countries.Genet Med2022
33981014Balancing scientific interests and the rights of participants in designing a recall by genotype study.Eur J Hum Genet2021
36260402Preferences of the Public for Sharing Health Data: Discrete Choice Experiment.JMIR Med Inform2021
33895538Task matters - challenging the motor system allows distinguishing unaffected Parkin mutation carriers from mutation-free controls.Parkinsonism Relat Disord2021
34870481Governance of Access in Biobanking: The Case of Telethon Network of Genetic Biobanks.Biopreserv Biobank2021
35233468Italian public's views on sharing genetic information and medical information: findings from the 'Your DNA, Your Say' study.Wellcome Open Res2021
34645534Prevalence and determinants of serum antibodies to SARS-CoV-2 in the general population of the Gardena valley.Epidemiol Infect2021
34241790Return of research results (RoRR) to the healthy CHRIS cohort: designing a policy with the participants.J Community Genet2021
34034801Demonstrating trustworthiness when collecting and sharing genomic data: public views across 22 countries.Genome Med2021
32946764Global Public Perceptions of Genomic Data Sharing: What Shapes the Willingness to Donate DNA and Health Data?Am J Hum Genet2020
33426479The case for open science: rare diseases.JAMIA Open2020
30818181Compound heterozygous SZT2 mutations in two siblings with early-onset epilepsy, intellectual disability and macrocephaly.Seizure2019
31790510Correction: Data in question: A survey of European biobank professionals on ethical, legal and societal challenges of biobank research.PLoS One2019
31801616Microbiota, type 2 diabetes and non-alcoholic fatty liver disease: protocol of an observational study.J Transl Med2019
31532777Data in question: A survey of European biobank professionals on ethical, legal and societal challenges of biobank research.PLoS One2019
30776795Are Requirements to Deposit Data in Research Repositories Compatible With the European Union's General Data Protection Regulation?Ann Intern Med2019
31152163A catalog of genetic loci associated with kidney function from analyses of a million individuals.Nat Genet2019
30996335The GDPR and the research exemption: considerations on the necessary safeguards for research biobanks.Eur J Hum Genet2019
28921376Legal issues in governing genetic biobanks: the Italian framework as a case study for the implications for citizen's health through public-private initiatives.J Community Genet2018
30081484Recommendations for Improving the Quality of Rare Disease Registries.Int J Environ Res Public Health2018
30248891Meeting Patients' Right to the Correct Diagnosis: Ongoing International Initiatives on Undiagnosed Rare Diseases and Ethical and Social Issues.Int J Environ Res Public Health2018
30367059Genome-wide analyses identify a role for SLC17A4 and AADAT in thyroid hormone regulation.Nat Commun2018
28952070The challenges of the expanded availability of genomic information: an agenda-setting paper.J Community Genet2018
28948532How to responsibly acknowledge research work in the era of big data and biobanks: ethical aspects of the Bioresource Research Impact Factor (BRIF).J Community Genet2018
29214593The Role of Solidarity(-ies) in Rare Diseases Research.Adv Exp Med Biol2017
28122615Dynamic Consent: a potential solution to some of the challenges of modern biomedical research.BMC Med Ethics2017
28394258Large-scale genome-wide analysis identifies genetic variants associated with cardiac structure and function.J Clin Invest2017
27049302'You should at least ask'. The expectations, hopes and fears of rare disease patients on large-scale data and biomaterial sharing for genomics research.Eur J Hum Genet2016
27307116International Charter of principles for sharing bio-specimens and data.Eur J Hum Genet2016
26860059Improving the informed consent process in international collaborative rare disease research: effective consent for effective research.Eur J Hum Genet2016
26883267Collaboration to Understand Complex Diseases: Preeclampsia and Adverse Pregnancy Outcomes.Hypertension2016
26709802Higher cardiogenic potential of iPSCs derived from cardiac versus skin stromal cells.Front Biosci (Landmark Ed)2016
27082461Feedback of Individual Genetic Results to Research Participants: Is It Feasible in Europe?Biopreserv Biobank2016
25248399International Charter of principles for sharing bio-specimens and data.Eur J Hum Genet2015
26541195The Cooperative Health Research in South Tyrol (CHRIS) study: rationale, objectives, and preliminary results.J Transl Med2015
25153467Practical barriers and ethical challenges in genetic data sharing.Int J Environ Res Public Health2014
27275410Rare disease research: Breaking the privacy barrier.Appl Transl Genom2014
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Collaborators

Co-authored papers 19
Institute for Biomedicine, Affiliated institute of the University of Lubeck
Co-authored papers 11
Institute for Biomedicine (Affiliated to the University of Lubeck)
Co-authored papers 10
Co-authored papers 10
Institute for Biomedicine (Affiliated to the University of Lubeck)
Co-authored papers 9
Co-authored papers 8
University of Oxford
Co-authored papers 5
National Center for Rare Diseases, Istituto Superiore di Sanita
Co-authored papers 5
Children's Hospital of Eastern Ontario Research Institute
Co-authored papers 5
Centre for Research Ethics & Bioethics, Uppsala University
Co-authored papers 4
University Medicine Greifswald
Co-authored papers 4
Co-authored papers 4
National Institutes of Health (NIH)
Co-authored papers 4
University Medical Center Rotterdam
Co-authored papers 4
Co-authored papers 4
University of Michigan School of Public Health ann arbor
Co-authored papers 3
Co-authored papers 3
Co-authored papers 3
Ontario Institute for Cancer Research
Co-authored papers 3
University of Groningen, University Medical Center Groningen
Co-authored papers 3
Finnish Cardiovascular Research Center-Tampere - FCRCT, Tampere University
Co-authored papers 3
The University of Melbourne
Co-authored papers 3
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Co-authored papers 3
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Department of Medical Ethics and Law, Peking University Health Science Center
Co-authored papers 3
Universite de Montreal.
Co-authored papers 3
Kavli Centre for Ethics, University of Cambridge
Co-authored papers 3
Medical Clinic V, University of Heidelberg
Co-authored papers 3