Jorge Oliveira, MSc, PhD
Vice-Director, Laboratory director and senior molecular geneticist at the Centre for Predictive and Preventive Genetics (CGPP), IBMC.
Invited Assistant Professor at the Instituto de Ciências Biomédicas Abel Salazar (ICBAS). Integrated researcher at the Cellular Medicine group from the Unit for Multidisciplinary Research in Biomedicine (UMIB-ICBAS), University of Porto.
Clinical Laboratory Genetic Specialist by the European Board of Medical Genetics (since 2015). Specialist in Human Genetics by the Order of Biologists (since 2009); Specialist in Genetics in the TSS career (since 2011);
His main scientific interests focus on the genetic basis and mutational spectrum of neurological diseases. Given the large amount of exomes and genomes processed at CGPP, his current research aims to identify genomic patterns using these data in the context of "Big Data" and new bioinformatics approaches. These patterns are of utmost importance not only for increasing molecular diagnosis rates but also for the discovery of new genes associated with genetic diseases.
Senior Editor of Annals of Human Genetics (Wiley) scientific journal.
Expert assessor at the European Molecular Quality Network (EMQN).
Selected Publications
LAMA2 gene mutation update: Toward a more comprehensive picture of the laminin-α2 variome and its related phenotypes. Human Mutation39(10):1314-1337, 2018. [Journal: Article] [CI: 71] [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: 13] [IF: 4]
DOI: 10.1136/jmedgenet-2020-107572 SCOPUS: 85112319638
Pereira R., Oliveira J., Sousa M.
Bioinformatics and computational tools for next-generation sequencing analysis in clinical genetics. Journal of Clinical Medicine9(1):, 2020. [Journal: Review] [CI: 154] [IF: 4,2]
DOI: 10.3390/jcm9010132 SCOPUS: 85081240037
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: 21] [IF: 6]
DOI: 10.1002/humu.21352 SCOPUS: 78049443024
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: 7] [IF: 5,6]
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: 26] [IF: 4,2]
DOI: 10.1038/ejhg.2012.201 SCOPUS: 84876688412
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: 23] [IF: 4,9]
DOI: 10.1002/humu.23936 SCOPUS: 85075484672
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: 4] [IF: 4,3]
DOI: 10.1111/cge.14055 SCOPUS: 85114363891
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: 24] [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: 26] [IF: 3,2]
DOI: 10.3390/genes8100253 SCOPUS: 85030989811