Jorge Oliveira, MSc, PhD.
Laboratory director and senior molecular geneticist at the Centre for Predictive and Preventive Genetics (CGPP), IBMC; integrated researcher (collaborator) at UnIGENe unit (i3S, University of Porto).
During previous research, he contributed to the genetic characterization of congenital myopathies and congenital muscular dystrophies on a national basis at the former Institute of Medical Genetics (IGM) Dr. Jacinto Magalhães (currently integrated into Centro Hospitalar Universitário do Porto).
The main scientific interests are the genetic basis and mutational spectrum of neuromuscular diseases. Given the large amount of data generated from massively parallel sequencing technology every day, his current research targets the identification of genomic patterns in large datasets (Big Data). These patterns could constitute auxiliary genetic markers of utmost importance for both diagnostics and gene discovery research.
Selected Publications
DOI: 10.1002/humu.23599 SCOPUS: 85053200388.
Sá M.J.N., Miller K.A., McQuaid M., Koelling N., Wilkie A.O.M., Wurtele H., De Brouwer A.P.M., Oliveira J.,
DOI: 10.1136/jmedgenet-2020-107572 SCOPUS: 85112319638.
Gonçalves A., Fortuna A., Ariyurek Y., Oliveira M.E., Nadais G., Pinheiro J., Den Dunnen J.T., Sousa M., Oliveira J., Santos R.,
DOI: 10.3390/ijms23010059 SCOPUS: 85121468094.
Oliveira J., Oliveira M.E., Kress W., Taipa R., Melo Pires M., Hilbert P., Baxter P., Santos M., Buermans H., Den Dunnen J.T., Santos R.,
DOI: 10.1038/ejhg.2012.201 SCOPUS: 84876688412.
Damásio J., Santos M., Samões R., Araújo M., Macedo M., Sardoeira A., Cavaco S., Freitas J., Barros J., Oliveira J., Sequeiros J.,
DOI: 10.1111/cge.14055 SCOPUS: 85114363891.
Oliveira J., Dias C., Redeker E., Costa E., Silva J., Reis Lima M., Den Dunnen J.T., Santos R.,
DOI: 10.1002/humu.21352 SCOPUS: 78049443024.
Cheng H., Capponi S., Wakeling E., Marchi E., Li Q., Zhao M., Weng C., Stefan P.G., Ahlfors H., Kleyner R., Rope A., Lumaka A., Lukusa P., Devriendt K., Vermeesch J., Posey J.E., Palmer E.E., Murray L., Leon E., Diaz J., Worgan L., Mallawaarachchi A., Vogt J., de Munnik S.A., Dreyer L., Baynam G., Ewans L., Stark Z., Lunke S., Gonçalves A.R., Soares G., Oliveira J., Fassi E., Willing M., Waugh J.L., Faivre L., Riviere J.B., Moutton S., Mohammed S., Payne K., Walsh L., Begtrup A., Guillen Sacoto M.J., Douglas G., Alexander N., Buckley M.F., Mark P.R., Adès L.C., Sandaradura S.A., Lupski J.R., Roscioli T., Agrawal P.B., Kline A.D., Wang K., Timmers H.T.M., Lyon G.J.,
DOI: 10.1002/humu.23936 SCOPUS: 85075484672.
Oliveira J., Martins M., Pinto Leite R., Sousa M., Santos R.,
DOI: 10.1111/cge.12997 SCOPUS: 85017400555.
Gonçalves A., Oliveira J., Coelho T., Taipa R., Melo-Pires M., Sousa M., Santos R.,
DOI: 10.3390/genes8100253 SCOPUS: 85030989811.
Gaspar P., Lopes P., Oliveira J., Santos R., Dalgleish R., Oliveira J.L.,
DOI: 10.1002/humu.22474 SCOPUS: 84891943923.