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Deborah Mascalzoni
Deborah Mascalzoni
Associate Professor, Uppsala University and EURAC
Verifierad e-postadress på eurac.edu
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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
7152021
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
6042019
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
3172012
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
3142017
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
2832019
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
2172018
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
1482018
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
1472019
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
1342015
Informed consent in the genomics era
D Mascalzoni, A Hicks, P Pramstaller, M Wjst
PLoS Medicine 5 (9), e192, 2008
1242008
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
1232017
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
1082019
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
942020
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
902007
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
842015
‘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
832016
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
792016
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
712018
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
572018
Perspectives on Open Science and scientific data sharing: an interdisciplinary workshop
G Destro Bisol, P Anagnostou, M Capocasa, S Bencivelli, A Cerroni, ...
542014
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Artiklar 1–20