Where Ideas Grow
Jorge Oliveira

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

Oliveira J., Gruber A., Cardoso M., Taipa R., Fineza I., Gonçalves A., Laner A., Winder T.L., Schroeder J., Rath J., Oliveira M.E., Vieira E., Sousa A.P., Vieira J.P., Lourenço T., Almendra L., Negrão L., Santos M., Melo-Pires M., Coelho T., den Dunnen J.T., Santos R., Sousa M.,
LAMA2 gene mutation update: Toward a more comprehensive picture of the laminin-a2 variome and its related phenotypes. Human Mutation39(10):1314-1337, 2018. [Journal: Article] [CI: 39] [IF: 4,5]
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.,
Biallelic GINS2 variant p.(Arg114Leu) causes Meier-Gorlin syndrome with craniosynostosis. Journal of Medical Genetics59(8):776-780, 2022. [Journal: Article] [CI: 6] [IF: 5,9 (*)]
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.,
Integrating whole-genome sequencing in clinical genetics: A novel disruptive structural rearrangement identified in the dystrophin gene (dmd). International Journal of Molecular Sciences23(1):, 2022. [Journal: Article] [CI: 2] [IF: 6,2 (*)]
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.,
Expanding the MTM1 mutational spectrum: Novel variants including the first multi-exonic duplication and development of a locus-specific database. European Journal of Human Genetics21(5):540-549, 2013. [Journal: Article] [CI: 24] [IF: 4,2]
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.,
Novel KMT2B mutation causes cerebellar ataxia: Expanding the clinical phenotype. Clinical Genetics100(6):743-747, 2021. [Journal: Article] [CI: 1] [IF: 4,3]
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.,
Development of NIPBL Locus-Specific Database Using LOVD: From Novel Mutations to Further Genotype-Phenotype Correlations in Cornelia de Lange Syndrome. Human Mutation31(11):1216-1222, 2010. [Journal: Article] [CI: 19] [IF: 6]
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.,
Missense variants in TAF1 and developmental phenotypes: Challenges of determining pathogenicity. Human Mutation41(2):449-464, 2020. [Journal: Article] [CI: 15] [IF: 4,9]
DOI: 10.1002/humu.23936 SCOPUS: 85075484672.

Oliveira J., Martins M., Pinto Leite R., Sousa M., Santos R.,
The new neuromuscular disease related with defects in the ASC-1 complex: report of a second case confirms ASCC1 involvement. Clinical Genetics92(4):434-439, 2017. [Journal: Article] [CI: 18] [IF: 3,5]
DOI: 10.1111/cge.12997 SCOPUS: 85017400555.

Gonçalves A., Oliveira J., Coelho T., Taipa R., Melo-Pires M., Sousa M., Santos R.,
Exonization of an intronic LINE-1 element causing becker muscular dystrophy as a novel mutational mechanism in dystrophin gene. Genes8(10):, 2017. [Journal: Article] [CI: 21] [IF: 3,2]
DOI: 10.3390/genes8100253 SCOPUS: 85030989811.

Gaspar P., Lopes P., Oliveira J., Santos R., Dalgleish R., Oliveira J.L.,
Variobox: Automatic detection and annotation of human genetic variants. Human Mutation35(2):202-207, 2014. [Journal: Article] [CI: 5] [IF: 5,1]
DOI: 10.1002/humu.22474 SCOPUS: 84891943923.