Jorge Oliveira, MSc, PhD, Clinical Laboratory Geneticist (CLG)
Laboratory director and senior molecular geneticist at the Centre for Predictive and Preventive Genetics (CGPP), IBMC. Integrated researcher at i3S and collaborator at the Biology and Genetics of Reproduction / Molecular and Cellular Medicine group from UMIB (ICBAS), University of Porto.
The main scientific interests center around the genetic basis and mutational spectrum of neuromuscular and neurological diseases. Given the large amount of data generated from massively parallel sequencing technology daily, his current research targets the identification of genomic patterns in large datasets (Big Data) through bioinformatics approaches. These patterns could constitute important auxiliary genetic markers for 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.