Where Ideas Grow
Maria Prata
Senior Researcher
Maria João Prata is an Associate Professor with aggregation at the Department of Biology of Faculty of Sciences of University of Porto and a senior researcher at the Population Genetics group at IPATIMUP. Her research interests encompass the dissection of the evolutionary factors underlying patterns of genetic diversity in human populations, the investigation of population structure in pharmacogenetic polymorphisms, and the study of gene functions and biological pathways in health and disease. She has regularly supervised post-graduation students, was the PI of research projects funded by national agencies, and has published around 90 peer-reviewed papers, with over 1.400 citations and an h-index of 19.

Selected Publications

Pereira V., Tomas C., Sanchez J.J., Syndercombe-Court D., Amorim A., Gusmão L., Prata M.J., Morling N.,
The peopling of Greenland: Further insights from the analysis of genetic diversity using autosomal and X-chromosomal markers. European Journal of Human Genetics23(2):245-251, 2015. [Journal: Article] [CI: 13] [IF: 4,6]
DOI: 10.1038/ejhg.2014.90 SCOPUS: 84921350960.


Matos L., Gonçalves V., Pinto E., Laranjeira F., Prata M.J., Jordan P., Desviat L.R., Pérez B., Alves S.,
Functional analysis of splicing mutations in the IDS gene and the use of antisense oligonucleotides to exploit an alternative therapy for MPS II. Biochimica et Biophysica Acta - Molecular Basis of Disease1852(12):2712-2721, 2015. [Journal: Article] [CI: 13] [IF: 5,2]
DOI: 10.1016/j.bbadis.2015.09.011 SCOPUS: 84943645882.


De Pace R., Coutinho M.F., Koch-Nolte F., Haag F., Prata M.J., Alves S., Braulke T., Pohl S.,
Mucolipidosis II-related mutations inhibit the exit from the endoplasmic reticulum and proteolytic cleavage of GlcNAc-1-phosphotransferase precursor protein (GNPTAB). Human Mutation35(3):368-376, 2014. [Journal: Article] [CI: 18] [IF: 5,1]
DOI: 10.1002/humu.22502 SCOPUS: 84893903694.


Gomes V., Pala M., Salas A., Álvarez-Iglesias V., Amorim A., Gómez-Carballa A., Carracedo Á., Clarke D.J., Hill C., Mormina M., Shaw M.A., Dunne D.W., Pereira R., Pereira V., Prata M.J., Sánchez-Diz P., Rito T., Soares P., Gusmão L., Richards M.B.,
Mosaic maternal ancestry in the Great Lakes region of East Africa. Human Genetics134(9):1013-1027, 2015. [Journal: Article] [CI: 15] [IF: 5,1]
DOI: 10.1007/s00439-015-1583-0 SCOPUS: 84938953750.


Moleirinho A., Seixas S., Lopes A.M., Bento C., Prata M.J., Amorim A.,
Evolutionary constraints in the ß-globin cluster: The signature of purifying selection at the d-globin (HBD) locus and its role in developmental gene regulation. Genome Biology and Evolution5(3):559-571, 2013. [Journal: Article] [CI: 17] [IF: 4,5]
DOI: 10.1093/gbe/evt029 SCOPUS: 84876571638.


Valente C., Alvarez L., Marks S.J., Lopez-Parra A.M., Parson W., Oosthuizen O., Oosthuizen E., Amorim A., Capelli C., Arroyo-Pardo E., Gusmão L., Prata M.J.,
Exploring the relationship between lifestyles, diets and genetic adaptations in humans. BMC Genetics16(1):, 2015. [Journal: Article] [CI: 16] [IF: 2,2]
DOI: 10.1186/s12863-015-0212-1 SCOPUS: 84929879263.