Deborah Mascalzoni

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Soavtorji

Peter P. Pramstaller, MDInstitute for Biomedicine, Eurac Research, BolzanoPreverjeni e-poštni naslov na eurac.edu
Cristian PattaroEurac ResearchPreverjeni e-poštni naslov na eurac.edu
Andrew A. HicksInstitute for Biomedicine, Eurac Research, Bolzano, ItalyPreverjeni e-poštni naslov na eurac.edu
Martin GögeleInstitute for Biomedicine, European Academy of Bozen/BolzanoPreverjeni e-poštni naslov na eurac.edu
Christian FuchsbergerEurac Research, Bozen/Bolzano, ItalyPreverjeni e-poštni naslov na eurac.edu
Roberta BiasiottoUniversity of Modena and Reggio Emilia, Eurac ResearchPreverjeni e-poštni naslov na eurac.edu
Simon WoodsProfessor of Bioethics Newcastle UniversityPreverjeni e-poštni naslov na ncl.ac.uk
Hanns Lochmüller, MD, FAANCHEO Research Institute and The Ottawa HospitalPreverjeni e-poštni naslov na toh.ca
Sabina GainottiResearcher, Istituto Superiore di SanitàPreverjeni e-poštni naslov na iss.it
Melotti RobertoInstitute for Biomedicine, EURAC research, Bolzano/Bozen (IT)Preverjeni e-poštni naslov na eurac.edu
Dr Pauline McCormackDepartment of Sociology, Newcastle UniversityPreverjeni e-poštni naslov na ncl.ac.uk
Luisa FocoInstitute for Biomedicine, EURAC ReseachPreverjeni e-poštni naslov na eurac.edu
Santa SlokenbergaSenior Lecturer at Uppsala UniversityPreverjeni e-poštni naslov na jur.uu.se
Matthias WjstProfessor, Technical University MunichPreverjeni e-poštni naslov na mytum.de
Olaf RiessProfessor der Humangenetik, Universität TübingenPreverjeni e-poštni naslov na med.uni-tuebingen.de
Flavio D'AbramoUniversity of Gastronomic SciencesPreverjeni e-poštni naslov na unisg.it
Dr. Visnja KaticAssociate Professor in Orthodontics, Faculty of Dental Medicine, University of RijekaPreverjeni e-poštni naslov na uniri.hr
Nisha ShahResearcher, University of OxfordPreverjeni e-poštni naslov na law.ox.ac.uk
Edward S DoveProfessor of Law at Maynooth UniversityPreverjeni e-poštni naslov na mu.ie
Sharon TerryGenetic AlliancePreverjeni e-poštni naslov na geneticalliance.org

Spremljaj

Deborah Mascalzoni

Associate Professor, Uppsala University and EURAC

Preverjeni e-poštni naslov na eurac.edu

Etica bioetica legal philosophy


Naslov Razvrsti po navedbah Razvrsti po letniku Razvrsti po naslovu	Navedeno Navedeno	Leto
Mapping the human genetic architecture of COVID-19 Writing group Writing group leaders Pathak Gita A. 6 Andrews Shea J. 7 Kanai ... Nature 600 (7889), 472-477, 2021	851	2021
A catalog of genetic loci associated with kidney function from analyses of a million individuals M Wuttke, Y Li, M Li, KB Sieber, MF Feitosa, M Gorski, A Tin, L Wang, ... Nature genetics 51 (6), 957-972, 2019	748	2019
Dynamic consent: a potential solution to some of the challenges of modern biomedical research I Budin-Ljøsne, HJA Teare, J Kaye, S Beck, HB Bentzen, L Caenazzo, ... BMC medical ethics 18, 1-10, 2017	367	2017
Target genes, variants, tissues and transcriptional pathways influencing human serum urate levels A Tin, J Marten, VL Halperin Kuhns, Y Li, M Wuttke, H Kirsten, KB Sieber, ... Nature genetics 51 (10), 1459-1474, 2019	357	2019
From patients to partners: participant-centric initiatives in biomedical research J Kaye, L Curren, N Anderson, K Edwards, SM Fullerton, N Kanellopoulou, ... Nature Reviews Genetics 13 (5), 371-376, 2012	331	2012
Genome-wide analyses identify a role for SLC17A4 and AADAT in thyroid hormone regulation A Teumer, L Chaker, S Groeneweg, Y Li, C Di Munno, C Barbieri, ... Nature communications 9 (1), 4455, 2018	264	2018
Genome-wide association meta-analyses and fine-mapping elucidate pathways influencing albuminuria A Teumer, Y Li, S Ghasemi, BP Prins, M Wuttke, T Hermle, A Giri, ... Nature communications 10 (1), 4130, 2019	187	2019
Recommendations for improving the quality of rare disease registries Y Kodra, J Weinbach, M Posada-De-La-Paz, A Coi, SL Lemonnier, ... International journal of environmental research and public health 15 (8), 1644, 2018	169	2018
International Charter of principles for sharing bio-specimens and data D Mascalzoni, ES Dove, Y Rubinstein, HJS Dawkins, A Kole, ... European Journal of Human Genetics 23 (6), 721-728, 2015	140	2015
Large-scale genome-wide analysis identifies genetic variants associated with cardiac structure and function PS Wild, JF Felix, A Schillert, A Teumer, MH Chen, MJG Leening, ... The Journal of clinical investigation 127 (5), 1798-1812, 2017	136	2017
Global public perceptions of genomic data sharing: what shapes the willingness to donate DNA and health data? A Middleton, R Milne, MA Almarri, S Anwer, J Atutornu, EE Baranova, ... The American Journal of Human Genetics 107 (4), 743-752, 2020	133	2020
The GDPR and the research exemption: considerations on the necessary safeguards for research biobanks C Staunton, S Slokenberga, D Mascalzoni European Journal of Human Genetics 27 (8), 1159-1167, 2019	132	2019
Informed consent in the genomics era D Mascalzoni, A Hicks, P Pramstaller, M Wjst PLoS Medicine 5 (9), e192, 2008	132	2008
The Cooperative Health Research in South Tyrol (CHRIS) study: rationale, objectives, and preliminary results C Pattaro, M Gögele, D Mascalzoni, R Melotti, C Schwienbacher, ... Journal of translational medicine 13, 1-16, 2015	102	2015
‘You should at least ask’. The expectations, hopes and fears of rare disease patients on large-scale data and biomaterial sharing for genomics research P McCormack, A Kole, S Gainotti, D Mascalzoni, C Molster, H Lochmüller, ... European Journal of Human Genetics 24 (10), 1403-1408, 2016	92	2016
The genetic study of three population microisolates in South Tyrol (MICROS): study design and epidemiological perspectives C Pattaro, F Marroni, A Riegler, D Mascalzoni, I Pichler, CB Volpato, ... BMC medical genetics 8, 1-15, 2007	92	2007
The challenges of the expanded availability of genomic information: an agenda-setting paper P Borry, HB Bentzen, I Budin-Ljøsne, MC Cornel, HC Howard, O Feeney, ... Journal of community genetics 9, 103-116, 2018	83	2018
Improving the informed consent process in international collaborative rare disease research: effective consent for effective research S Gainotti, C Turner, S Woods, A Kole, P McCormack, H Lochmüller, ... European Journal of Human Genetics 24 (9), 1248-1254, 2016	81	2016
Meeting patients’ right to the correct diagnosis: ongoing international initiatives on undiagnosed rare diseases and ethical and social issues S Gainotti, D Mascalzoni, V Bros-Facer, C Petrini, G Floridia, M Roos, ... International journal of environmental research and public health 15 (10), 2072, 2018	66	2018
Perspectives on Open Science and scientific data sharing: an interdisciplinary workshop G Destro Bisol, P Anagnostou, M Capocasa, S Bencivelli, A Cerroni, ...	56	2014

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