Raquel Rodrigues Vaz
Research Specialist
E-mail: raquel.vaz@ki.se
Visiting address: Karolinska Institutet, BioClinicum J10:20, Visionsgatan 4, 17164 Solna
Postal address: K1 Molekylär medicin och kirurgi, K1 MMK Sällsynta diagnoser, 171 76 Stockholm
Research
- I am interested in understanding how genomic changes found in patients result
in disease, aiming to identify the affected cellular pathways and, whenever
possible, potential targets for therapy. In many cases the disease-causing
genomic changes have already been described, however a significant percentage
of patients are still undiagnosed. I focus on assessing the relevance of
mutations in candidate genes found by whole exome or genome sequencing in
disease using mainly the zebrafish model. The disorders I am studying include
congenital myopathies, malformations and dysplasias, and ciliopathies.
Articles
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Article: EMBO MOLECULAR MEDICINE. 2024;16(3):596-615
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Article: FRONTIERS IN NEUROSCIENCE. 2023;17:1205653
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Article: BIOMEDICINES. 2022;10(12):3171
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Article: JOURNAL OF MEDICAL GENETICS. 2022;59(2):141-146
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Article: GENES. 2020;11(11):E1343-1343
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Article: FRONTIERS IN GENETICS. 2019;10:608
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Article: HUMAN MUTATION. 2018;39(10):1456-1467
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Article: HUMAN MUTATION. 2018;39(9):1161-1172
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Article: SCIENTIFIC REPORTS. 2017;7(1):15585
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Article: GENE EXPRESSION PATTERNS. 2015;18(1-2):37-43
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Article: PHYSICS IN MEDICINE AND BIOLOGY. 2015;60(8):3065-3080
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Article: ACTA NEUROPATHOLOGICA. 2014;128(6):821-833
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Article: AMERICAN JOURNAL OF HUMAN GENETICS. 2013;93(1):6-18
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Article: CELL AND TISSUE RESEARCH. 2012;348(3):569-578
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Article: DEVELOPMENTAL DYNAMICS. 2012;241(2):350-364
All other publications
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Review: INTERNATIONAL JOURNAL OF MOLECULAR SCIENCES. 2019;20(6):E1296-1296