Sara Morais
The Center for Predictive and Preventive Genetics
Team Member
PhD in Biomedical Sciences (2018), ICBAS, Univ. Porto. Master's degree in Molecular Genetics and Biomedicine (2011), FCT,UNL. BSc in Biology (2009), FCUP, Univ. Porto. Presently, I´m working as a diagnostic technician at CGPP.
Previous research included: searching PARK2 gene mutations in patients with Parkinson disease; characterizing large genomic deletions and pathogenic mechanisms caused by mutations in this gene and also, searching for disease modifiers in spinocerebellar ataxias using C. elegans as an animal model; and during my PhD I worked in the identification of new genes in hereditary spastic paraplegias.
Selected Publications
Morais S., Raymond L., Mairey M., Coutinho P., Brandão E., Ribeiro P., Loureiro J.L., Sequeiros J., Brice A., Alonso I., Stevanin G.,
Coutelier M., Goizet C., Durr A., Habarou F., Morais S., Dionne-Laporte A., Tao F., Konop J., Stoll M., Charles P., Jacoupy M., Matusiak R., Alonso I., Tallaksen C., Mairey M., Kennerson M., Gaussen M., Schule R., Janin M., Morice-Picard F., Durand C.M., Depienne C., Calvas P., Coutinho P., Saudubray J.M., Rouleau G., Brice A., Nicholson G., Darios F., Loureiro J.L., Zuchner S., Ottolenghi C., Mochel F., Stevanin G.,
da Conceição Pereira M., Morais S., Sequeiros J., Alonso I.,
Massive sequencing of 70 genes reveals a myriad of missing genes or mechanisms to be uncovered in hereditary spastic paraplegias. European Journal of Human Genetics25(11):1217-1228, 2017. [Journal: Article] [CI: 44] [IF: 3,6]
DOI: 10.1038/ejhg.2017.124 SCOPUS: 85031283104.
DOI: 10.1038/ejhg.2017.124 SCOPUS: 85031283104.
Coutelier M., Goizet C., Durr A., Habarou F., Morais S., Dionne-Laporte A., Tao F., Konop J., Stoll M., Charles P., Jacoupy M., Matusiak R., Alonso I., Tallaksen C., Mairey M., Kennerson M., Gaussen M., Schule R., Janin M., Morice-Picard F., Durand C.M., Depienne C., Calvas P., Coutinho P., Saudubray J.M., Rouleau G., Brice A., Nicholson G., Darios F., Loureiro J.L., Zuchner S., Ottolenghi C., Mochel F., Stevanin G.,
Alteration of ornithine metabolism leads to dominant and recessive hereditary spastic paraplegia. Brain138(8):2191-2205, 2015. [Journal: Article] [CI: 80] [IF: 10,1]
DOI: 10.1093/brain/awv143 SCOPUS: 84940092804.
DOI: 10.1093/brain/awv143 SCOPUS: 84940092804.
da Conceição Pereira M., Morais S., Sequeiros J., Alonso I.,
Large-scale functional RNAi Screen in C. elegans identifies TGF-ß and notch signaling pathways as modifiers of CACNAIA. ASN Neuro8(2):, 2016. [Journal: Article] [CI: 7] [IF: 3]
DOI: 10.1177/1759091416637025 SCOPUS: 84961625995.
DOI: 10.1177/1759091416637025 SCOPUS: 84961625995.