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Research Associate

Education and Training

PhD in Molecular and Developmental Biology, University of Cambridge, UK, 2006

Postgraduate GABBA (Graduation in Basic and Applied Biology) program, University of Porto, Portugal, 2002

Undergraduate in Biology, Faculty of Sciences, University of Porto, Portugal, 2001

Research activities

- Principal Investigator of the Stem Cell Epigenetics Lab since 2020
- Expert in Stem Cell Biology and Epigenetics (Genomic Imprinting & X-chromosome inactivation)

Selected publications

Arez, M., Eckersley-Maslin, M., Klobučar, T., von Gilsa Lopes, J., Krueger, F., Raposo, A.C., Gendrel, A.-V., Bernardes de Jesus, B., da Rocha, S.T. Sex of donor cell and reprogramming conditions predict the extent and nature of imprinting defects in mouse iPSCs. bioRxiv doi: 10.1101/2020.11.20.370973 (2021).

Silva, T.P., Pereira, C.A., Raposo, A.C., Oliveira, A.R., Arez, M., Cabral, J.M.S., Milagre, I., Carmo-Fonseca, M., Rocha, S.T.D. Generation and characterization of induced pluripotent stem cells heterozygous for the Portuguese BRCA2 founder mutation. Stem Cell Res 53:102364 (2021).

Silva, T.P., Pereira, C.A., Oliveira, A.R., Raposo, A.C., Arez, M., Cabral, J.M.S., Milagre, I., Carmo-Fonseca, M., da Rocha, S.T. Generation and characterization of induced pluripotent stem cells from a family carrying the BRCA1 mutation c.3612delA. Stem Cell Res 52:102242 (2021).

Klobučar, T., Kreibich, E., Krueger, F., Arez, M., Pólvora-Brandão, D., von Meyenn, F., da Rocha, S.T., Eckersley-Maslin, M. IMPLICON: an ultra-deep sequencing method to uncover DNA methylation at imprinted genes. Nucleic Acids Res 48(16):e92 (2020).

Maranga, C., Fernandes, T.G., Bekman, E., da Rocha, S.T. Angelman syndrome: a journey through the brain. FEBS J 287(11):2154-2175 (2020).

Bousard, A., Raposo, A.C., Żylicz, J.J., Picard, C., Pires, V.B., Qi, Y., Gil, C., Syx, L., Chang, H.Y., Heard, E., da Rocha, S.T. The role of Xist-mediated Polycomb recruitment in the initiation of X-chromosome inactivation. EMBO Rep 20:e48019 (2019).

Żylicz, J.J., Bousard, A., Zumer, K., Dossin, F., Mohammad, E., da Rocha, S.T., Schwalb, B., Syx, L., Dingli, F., Loew, D., Cramer, P., Heard, E. The Implication of Early Chromatin Changes in X Chromosome Inactivation. Cell 176(1-2):182-197.e23 (2019).

Pólvora-Brandão, D., Joaquim, M., Godinho, I., Aprile, D., Álvaro, A.R., Onofre, I., Raposo, A.C., Pereira de Almeida, L., Duarte, S.T., da Rocha, S.T. Loss of hierarchical imprinting regulation at the Prader-Willi/Angelman syndrome locus in iPSCs. Hum Mol Genet 27(23):3999-4011 (2018).

da Rocha, S.T., Heard, E. Novel players in X inactivation: insights into Xist-mediated gene silencing and chromosome conformation. Nat Struct Mol Biol 24:197-204 (2017).

Chu, C., Zhang, Q.C., da Rocha, S.T., Flynn, R.A., Bharadwaj, M., Calabrese, J.M., Magnuson, T., Heard, E., Chang, H.Y. Systematic Discovery of Xist RNA Binding Proteins. Cell 161(2):404-416 (2015).

da Rocha, S.T., Boeva, V., Escamilla-Del-Arenal, M., Ancelin, K., Granier, C., Matias, N.R., Sanulli, S., Chow, J., Schulz, E., Picard, C., Kaneko, S., Helin, K., Reinberg, D., Stewart, A.F., Wutz, A., Margueron, R., Heard E. Jarid2 is implicated in the initial Xist-induced targeting of PRC2 to the inactive X Chromosome. Mol Cell 53(2):301-316 (2014).

Escamilla-Del-Arenal, M., da Rocha, S.T., Heard, E. Evolutionary diversity and developmental regulation of the X-chromosome inactivation. Hum Gen 130(2):307-327 (2011).

Charalambous, M., da Rocha, S.T., Radford, E., Medina-Gomez, G., Curran, S., Pinnock, S., Ferron, S., Vidal-Puig, A., Ferguson-Smith, A.C. DLK1/PREF1 regulates nutrient metabolism and protects from steatosis. PNAS 111(45):16088-16093 (2014).

Charalambous, M., Ferron, S.R., da Rocha, S.T., Murray, A.J., Rowland, T., Ito, M., Schuster-Gossler, K., Hernandez, A., Ferguson-Smith, A.C. Imprinted gene dosage is critical for the transition to independent life. Cell Metab 15(2):209-221 (2012).

da Rocha, S.T., Charalambous, M., Lin, S.P., Gutteridge, I., Ito, Y., Gray, D., Dean, W., Ferguson-Smith, A.C. Gene dosage effects of the imprinted delta-like homologue 1 (dlk1/pref1) in development: implications for the evolution of imprinting. PLoS Genet 5(2):e1000392 (2009).

da Rocha, S.T., Edwards, C., Ito, M., Ogata, T., Ferguson-Smith, A.C. Genomic imprinting at the mammalian Dlk1-Dio3 domain. Trends Genet 24(6):306-316 (2008).

da Rocha, S.T., Tevendale, M., Knowles, E., Takada, S., Watkins, M., Ferguson-Smith, A.C. Restricted co-expression of Dlk1 and the reciprocally imprinted non-coding RNA, Gtl2: Implications for cis-acting regional control. Dev Biol 306(2):810-823 (2007).

da Rocha, S.T., Ferguson-Smith, A.C. Genomic Imprinting. Curr Biol 14(16):R646-649 (2004).