Search filters

List of works by Deborah Mascalzoni

'You should at least ask'. The expectations, hopes and fears of rare disease patients on large-scale data and biomaterial sharing for genomics research

scientific article

Collaboration to Understand Complex Diseases: Preeclampsia and Adverse Pregnancy Outcomes

scientific article published on 16 February 2016

Comparison of participant information and informed consent forms of five European studies in genetic isolated populations

scientific article (publication date: March 2010)

Ethical, legal and social/societal implications (ELSI) of recall-by-genotype (RbG) and genotype-driven-research (GDR) approaches: a scoping review

scientific article published in 2022

Feedback of Individual Genetic Results to Research Participants: Is It Feasible in Europe?

scientific article

From patients to partners: participant-centric initiatives in biomedical research

scientific article

Genome-wide analyses identify a role for SLC17A4 and AADAT in thyroid hormone regulation

scientific article published in Nature Communications

Genome-wide association meta-analyses and fine-mapping elucidate pathways influencing albuminuria

scientific article published on 11 September 2019

How to responsibly acknowledge research work in the era of big data and biobanks: ethical aspects of the Bioresource Research Impact Factor (BRIF).

scientific article published on 25 September 2017

Improving the informed consent process in international collaborative rare disease research: effective consent for effective research

scientific article

Informed consent in the genomics era

scientific article

International Charter of principles for sharing bio-specimens and data

scientific article

International Charter of principles for sharing bio-specimens and data.

scientific article

Large-scale genome-wide analysis identifies genetic variants associated with cardiac structure and function

scientific article published on 10 April 2017

Meeting Patients' Right to the Correct Diagnosis: Ongoing International Initiatives on Undiagnosed Rare Diseases and Ethical and Social Issues

scholarly article by Sabina Gainotti et al published 21 September 2018 in International Journal of Environmental Research and Public Health

Perspectives on Open Science and scientific data sharing:an interdisciplinary workshop

scientific article

Practical barriers and ethical challenges in genetic data sharing

scientific article

Prospective epidemiological, molecular, and genetic characterization of a novel coronavirus disease in the Val Venosta/Vinschgau: the CHRIS COVID-19 study protocol

scientific article published on 12 October 2021

Rare disease research: Breaking the privacy barrier

scientific article

Rare diseases and now rare data?

scientific article

Recommendations for Improving the Quality of Rare Disease Registries

The Cooperative Health Research in South Tyrol (CHRIS) study: rationale, objectives, and preliminary results

scientific article

The Role of Solidarity(-ies) in Rare Diseases Research.

scientific article published in January 2017

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

scientific article published on 26 September 2017

The genetic study of three population microisolates in South Tyrol (MICROS): study design and epidemiological perspectives

scientific article

Paulina is supported by:

About Paulina

Help