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Research description

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.



Novel KIAA0753 mutations extend the phenotype of skeletal ciliopathies
Hammarsjö A, Wang Z, Vaz R, Taylan F, Sedghi M, Girisha Km, et al
Scientific reports 2017;7(1):15585-

Bone morphogenetic protein/retinoic acid inducible neural-specific protein (brinp) expression during Danio rerio development
Giousoh A, Vaz R, Bryson-richardson Rj, Whisstock Jc, Verkade H, Bird Pi
Gene expression patterns : GEP 2015;18(1-2):37-43

Comparison of different numerical treatments for x-ray phase tomography of soft tissue from differential phase projections
Pelliccia D, Vaz R, Svalbe I, Morgan Ks, Marathe S, Xiao X, et al
Physics in medicine and biology 2015;60(8):3065-80

Zebrafish models of BAG3 myofibrillar myopathy suggest a toxic gain of function leading to BAG3 insufficiency
Ruparelia Aa, Oorschot V, Vaz R, Ramm G, Bryson-richardson Rj
Acta neuropathologica 2014;128(6):821-33

Mutations in KLHL40 are a frequent cause of severe autosomal-recessive nemaline myopathy
Ravenscroft G, Miyatake S, Lehtokari Vl, Todd Ej, Vornanen P, Yau Ks, et al
American journal of human genetics 2013;93(1):6-18

Extracellular matrix remodeling accompanies axial muscle development and morphogenesis in the mouse
Deries M, Gonçalves Ab, Vaz R, Martins Gg, Rodrigues G, Thorsteinsdóttir S
Developmental dynamics : an official publication of the American Association of Anatomists 2012;241(2):350-64

Fibronectin promotes migration, alignment and fusion in an in vitro myoblast cell model
Vaz R, Martins Gg, Thorsteinsdóttir S, Rodrigues G
Cell and tissue research 2012;348(3):569-78