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1. Full Text Reverse Discrimination For Psychiatric Genetic Studies In Population-Based Biobanks
by Mascalzoni, Deborah
European neuropsychopharmacology, ISSN 0924-977X, 2017, Volume 27, pp. S475 - S476
Medical research | Analysis | Depression, Mental | Genomics | Genetic research | Medicine, Experimental | Reverse discrimination
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2. Full Text The GDPR and the research exemption: considerations on the necessary safeguards for research biobanks
by Staunton, Ciara and Slokenberga, Santa and Mascalzoni, Deborah
European journal of human genetics : EJHG, ISSN 1018-4813, 08/2019, Volume 27, Issue 8, pp. 1159 - 1167
Biochemistry & Molecular Biology | Genetics & Heredity | Life Sciences & Biomedicine | Science & Technology | Ethics | General Data Protection Regulation | Index Medicus | Policy | Health policy | Medicinsk rätt | Samhällsvetenskap | Social Sciences | Law | Law and Society | Medical law | Juridik och samhälle | GDPR | Juridik
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3. Full Text International Charter of principles for sharing bio-specimens and data
by Mascalzoni, Deborah and Dove, Edward S and Rubinstein, Yaffa and Dawkins, Hugh J.S and Kole, Anna and Mccormack, Pauline and Woods, Simon and Riess, Olaf and Schaefer, Franz and Lochmüller, Hanns and Knoppers, Bartha M and Hansson, Mats
European journal of human genetics : EJHG, ISSN 1018-4813, 06/2015, Volume 23, Issue 6, pp. 721 - 728
Biomedical research | Data collections | Genomics | Bioethics | Patients | Charters | Ethics | Privacy | Researchers | Information sharing | Genetics | Agreements | Public health | Cancer | Index Medicus
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4. Full Text From patients to partners: Participant-centric initiatives in biomedical research
by Kaye, Jane and Curren, Liam and Anderson, Nick and Edwards, Kelly and Fullerton, Stephanie M and Kanellopoulou, Nadja and Lund, David and MacArthur, Daniel G and Mascalzoni, Deborah and Shepherd, James and Taylor, Patrick L and Terry, Sharon F and Winter, Stefan F
Nature reviews. Genetics, ISSN 1471-0056, 05/2012, Volume 13, Issue 5, pp. 371 - 376
Life Sciences & Biomedicine | Genetics & Heredity | Science & Technology | Fundamental and applied biological sciences. Psychology | Biological and medical sciences | Genetics of eukaryotes. Biological and molecular evolution | Privacy | Informed Consent - ethics | Biomedical Research - ethics | Computational Biology - ethics | Humans | Social Media - ethics | Medical research | Laws, regulations and rules | Medicine, Experimental | Influence | Forecasts and trends | Management | Informed consent (Medical law) | Social aspects | Medical ethics | Medical informatics | Index Medicus
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5. Full Text Ethics, Law and Governance of Biobanking
: National, European and International Approaches
by Mascalzoni, Deborah
2015, The international library of ethics, law and technology, ISBN 9789401795722, Volume 14, 275
Moral and ethical aspects | Law and legislation | Biological specimens | Biobanks | Medical and Health Sciences | Medicin och hälsovetenskap | Medicinsk etik | Hälsovetenskaper | Medical Ethics | Ethics law governance biobanking | Health Sciences
eBook
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6. Full Text Collaboration to Understand Complex Diseases: Preeclampsia and Adverse Pregnancy Outcomes
by Roberts, James M and Mascalzoni, Deborah and Ness, Roberta B and Poston, Lucilla and Global Pregnancy Collaboration
Hypertension (Dallas, Tex. 1979), ISSN 0194-911X, 04/2016, Volume 67, Issue 4, pp. 681 - 687
Peripheral Vascular Disease | Life Sciences & Biomedicine | Cardiovascular System & Cardiology | Science & Technology | Hypertension, Pregnancy-Induced - therapy | Pregnancy Complications, Cardiovascular - therapy | Severity of Illness Index | Global Health | Risk Assessment | Humans | Cooperative Behavior | Hypertension, Pregnancy-Induced - diagnosis | Pregnancy | Interdisciplinary Communication | Female | Pregnancy Complications, Cardiovascular - diagnosis | Pre-Eclampsia - therapy | Pregnancy Outcome | Pre-Eclampsia - diagnosis | Index Medicus
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7. Full Text 'You should at least ask'. the expectations, hopes and fears of rare disease patients on large-scale data and biomaterial sharing for genomics research
by McCormack, Pauline and Kole, Anna and Gainotti, Sabina and Mascalzoni, Deborah and Molster, Caron and Lochmüller, Hanns and Woods, Simon
European journal of human genetics : EJHG, ISSN 1018-4813, 10/2016, Volume 24, Issue 10, pp. 1403 - 1408
Biochemistry & Molecular Biology | Genetics & Heredity | Life Sciences & Biomedicine | Science & Technology | Information Dissemination - ethics | Genome-Wide Association Study - ethics | Rare Diseases - psychology | European Union | United States | Humans | Knowledge of Results (Psychology) | Genome-Wide Association Study - standards | Health Knowledge, Attitudes, Practice | Databases, Factual | Qualitative research | Young adults | Genomics | Patients | Consortia | Researchers | Consent | Collaboration | Information sharing | Genetic research | Children | Research centers | Bioinformatics | Index Medicus
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8. Full Text Improving the informed consent process in international collaborative rare disease research: Effective consent for effective research
by Gainotti, Sabina and Turner, Cathy and Woods, Simon and Kole, Anna and McCormack, Pauline and Lochmüller, Hanns and Riess, Olaf and Straub, Volker and Posada, Manuel and Taruscio, Domenica and Mascalzoni, Deborah
European journal of human genetics : EJHG, ISSN 1018-4813, 08/2016, Volume 24, Issue 9, pp. 1248 - 1254
Biochemistry & Molecular Biology | Genetics & Heredity | Life Sciences & Biomedicine | Science & Technology | Rare Diseases - genetics | European Union | Genetics, Medical - standards | Humans | Genetic Diseases, Inborn - genetics | Databases, Nucleic Acid - standards | Genetics, Medical - organization & administration | Informed Consent - standards | International Cooperation | Genetics, Medical - legislation & jurisprudence | Information Dissemination | Data collections | Genomics | Licenses | Consortia | Ethics | Privacy | Researchers | Collaboration | Information sharing | Genetics | Informed consent | Research centers | Public health | Index Medicus
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9. Full Text Dynamic Consent: A potential solution to some of the challenges of modern biomedical research
by Budin-Ljøsne, Isabelle and Teare, Harriet J. A and Kaye, Jane and Beck, Stephan and Bentzen, Heidi Beate and Caenazzo, Luciana and Collett, Clive and D'Abramo, Flavio and Felzmann, Heike and Finlay, Teresa and Javaid, Muhammad Kassim and Jones, Erica and Katić, Višnja and Simpson, Amy and Mascalzoni, Deborah
BMC medical ethics, ISSN 1472-6939, 01/2017, Volume 18, Issue 1, pp. 4 - 4
Ethics | Dynamic consent | Biobank | Research communication | Clinical trials | Clinical research | Participant engagement | Software tools | Social Sciences | Social Sciences - Other Topics | Life Sciences & Biomedicine | Social Sciences, Biomedical | Medical Ethics | Biomedical Social Sciences | Science & Technology | Biomedical Research - ethics | Follow-Up Studies | Professional-Patient Relations | Humans | Data Collection - methods | Ethics, Research | Information Dissemination | Patient Selection | Informed Consent | Research Personnel | Biomedical Research - methods | Research Subjects | Research Design | Communication | Medicine, Experimental | Medical research | Forecasts and trends | Ethical aspects | Index Medicus | Bioethics
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10. Full Text The Role of Solidarity(-ies) in Rare Diseases Research
by Mascalzoni, Deborah and Petrini, Carlo and Taruscio, Domenica and Gainotti, Sabina
12/2017, Advances in Experimental Medicine and Biology, ISBN 9783319671420, Volume 1031
Biobanking | Patient associations | Reciprocity | Data sharing | Solidarity | Governance | International research
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11. Full Text Are requirements to deposit data in research repositories compatible with the european union's general data protection regulation?
by Mascalzoni, Deborah and Bentzen, Heidi Beate and Budin-Ljøsne, Isabelle and Bygrave, Lee Andrew and Bell, Jessica and Dove, Edward S and Fuchsberger, Christian and Hveem, Kristian and Mayrhofer, Michaela Th and Meraviglia, Viviana and O'Brien, David R and Pattaro, Cristian and Pramstaller, Peter P and Rakić, Vojin and Rossini, Alessandra and Shabani, Mahsa and Svantesson, Dan Jerker B and Tomasi, Marta and Ursin, Lars and Wjst, Matthias and Kaye, Jane
Annals of internal medicine, ISSN 0003-4819, 2019, Volume 170, Issue 5, pp. 332 - 334
Medicine, General & Internal | Life Sciences & Biomedicine | General & Internal Medicine | Science & Technology | Biomedical Research - organization & administration | Computer Security - standards | European Union | Humans | Information Dissemination - methods | EU directives | Data collection | Scientific method | Regulation | Data integrity | Index Medicus | Abridged Index Medicus
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12. Full Text Target genes, variants, tissues and transcriptional pathways influencing human serum urate levels
by Tin, Aienne and Marten, Jonathan and Halperin Kuhns, Victoria L and Li, Yong and Wuttke, Matthias and Kirsten, Holger and Sieber, Karsten B and Qiu, Chengxiang and Gorski, Mathias and Yu, Zhi and Giri, Ayush and Sveinbjornsson, Gardar and Li, Man and Chu, Auey Y and Hoppmann, Anselm and O'Connor, Luke J and Prins, Bram and Nutile, Teresa and Noce, Damia and Akiyama, Masato and Cocca, Massimiliano and Ghasemi, Sahar and van der Most, Peter J and Horn, Katrin and Xu, Yizhe and Fuchsberger, Christian and Sedaghat, Sanaz and Afaq, Saima and Amin, Najaf and Ärnlöv, Johan and Bakker, Stephan J L and Bansal, Nisha and Baptista, Daniela and Bergmann, Sven and Biggs, Mary L and Biino, Ginevra and Boerwinkle, Eric and Bottinger, Erwin P and Boutin, Thibaud S and Brumat, Marco and de Borst, Martin H and de Vries, Aiko P J and Gansevoort, Ron T and Huang, Wei and Nolte, Ilja M and Penninx, Brenda W J H and Smith, Albert V and van der Harst, Pim and Verweij, Niek and Snieder, Harold and VA Million Vet Program and German Chronic Kidney Dis Study and Lifelines Cohort Study and V. A. Million Veteran Program and German Chronic Kidney Disease Study
Nature genetics, ISSN 1061-4036, 10/2019, Volume 51, Issue 10, pp. 1459 - 1474
Life Sciences & Biomedicine | Genetics & Heredity | Science & Technology | Liver - pathology | Hepatocyte Nuclear Factor 1-alpha - genetics | Kidney - pathology | Humans | Genetic Loci | Cardiovascular Diseases - genetics | Kidney - metabolism | Gout - epidemiology | Cardiovascular Diseases - blood | Cardiovascular Diseases - epidemiology | Uric Acid - blood | Gout - blood | Neoplasm Proteins - genetics | Genetic Predisposition to Disease | Genome-Wide Association Study | Signal Transduction | Liver - metabolism | ATP Binding Cassette Transporter, Subfamily G, Member 2 - genetics | Metabolic Diseases - epidemiology | Metabolic Diseases - blood | Hepatocyte Nuclear Factor 4 - genetics | Genetic Markers | Organ Specificity | Metabolic Diseases - genetics | Gout - genetics | Polymorphism, Single Nucleotide | Cohort Studies | Medical colleges | Analysis | Liver | Genomics | Genes | Genetic research | Genetic aspects | Genomes | Genetic transcription | Regulators | Transcription factors | Transcription | Gout | African Americans | Mapping | Databases | Genetic analysis | Population | Rheumatism | Hepatocyte nuclear factor 4 | Bioinformatics | Kidneys | Organs | Uric acid | Metabolism | Gene expression | Loci | Meta-analysis | Studies | Pleiotropy | Gene loci | Gene mapping | Transporter | Binding sites | Open access | Index Medicus | Medicin och hälsovetenskap
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13. Full Text Meeting patients’ right to the correct diagnosis: Ongoing international initiatives on undiagnosed rare diseases and ethical and social issues
by Gainotti, Sabina and Mascalzoni, Deborah and Bros-Facer, Virginie and Petrini, Carlo and Floridia, Giovanna and Roos, Marco and Salvatore, Marco and Taruscio, Domenica
International journal of environmental research and public health, ISSN 1661-7827, 10/2018, Volume 15, Issue 10, p. 2072
Deep phenotyping | Genomic matchmaking | Undiagnosed rare diseases | Secondary findings | Diagnostic odyssey | Patient involvement | Next generation sequencing | Public, Environmental & Occupational Health | Environmental Sciences & Ecology | Life Sciences & Biomedicine | Science & Technology | Environmental Sciences | Rare Diseases - genetics | Social Justice | Global Health | Humans | Rare Diseases - diagnosis | Genotype | International Cooperation | Patient Preference | Patient Rights - ethics | Delayed Diagnosis - ethics | Phenotype | Patient Participation - methods | Delayed Diagnosis - prevention & control | Databases, Factual | Index Medicus | genomic matchmaking | undiagnosed rare diseases | next generation sequencing | patient involvement | Review | secondary findings | diagnostic odyssey | deep phenotyping
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