Long term culture of mesenchymal stem cells in hypoxia promotes a genetic program maintaining their undifferentiated and multipotent status L Basciano, C Nemos, B Foliguet, N de Isla, M de Carvalho, N Tran, ... BMC cell biology 12, 1-12, 2011 | 321 | 2011 |
A guide for functional analysis of BRCA1 variants of uncertain significance GA Millot, MA Carvalho, SM Caputo, MPG Vreeswijk, MA Brown, M Webb, ... Human mutation 33 (11), 1526-1537, 2012 | 169 | 2012 |
Determination of cancer risk associated with germ line BRCA1 missense variants by functional analysis MA Carvalho, SM Marsillac, R Karchin, S Manoukian, S Grist, RF Swaby, ... Cancer research 67 (4), 1494-1501, 2007 | 143 | 2007 |
Charting the landscape of tandem BRCT domain–mediated protein interactions NT Woods, RD Mesquita, M Sweet, MA Carvalho, X Li, Y Liu, H Nguyen, ... Science signaling 5 (242), rs6-rs6, 2012 | 131 | 2012 |
The Role of PALB2 in the DNA Damage Response and Cancer Predisposition TC Nepomuceno, G De Gregoriis, FM Bastos de Oliveira, G Suarez-Kurtz, ... International journal of molecular sciences 18 (9), 1886, 2017 | 128 | 2017 |
Functional assays provide a robust tool for the clinical annotation of genetic variants of uncertain significance NT Woods, R Baskin, V Golubeva, A Jhuraney, G De-Gregoriis, T Vaclova, ... NPJ genomic medicine 1 (1), 1-9, 2016 | 91 | 2016 |
Functional assays for BRCA1 and BRCA2 MA Carvalho, FJ Couch, ANA Monteiro The international journal of biochemistry & cell biology 39 (2), 298-310, 2007 | 85 | 2007 |
Galectin-3 up-regulation in hypoxic and nutrient deprived microenvironments promotes cell survival RY Ikemori, CML Machado, KM Furuzawa, S Nonogaki, E Osinaga, ... PLoS One 9 (11), e111592, 2014 | 75 | 2014 |
Functional impact of missense variants in BRCA1 predicted by supervised learning R Karchin, ANA Monteiro, SV Tavtigian, MA Carvalho, A Sali PLoS computational biology 3 (2), e26, 2007 | 73 | 2007 |
Breast cancer susceptibility and the DNA damage response V Dapic, MA Carvalho, ANA Monteiro Cancer Control 12 (2), 127-136, 2005 | 70 | 2005 |
Identification of Filamin A as a BRCA1-interacting protein required for efficient DNA repair A Velkova, MA Carvalho, JO Johnson, SV Tavtigian, ANA Monteiro Cell cycle 9 (7), 1421-1433, 2010 | 62 | 2010 |
Analysis of a set of missense, frameshift, and in-frame deletion variants of BRCA1 M Carvalho, MA Pino, R Karchin, J Beddor, M Godinho-Netto, ... Mutation Research/Fundamental and Molecular Mechanisms of Mutagenesis 660 (1 …, 2009 | 55 | 2009 |
A global functional analysis of missense mutations reveals two major hotspots in the PALB2 tumor suppressor A Rodrigue, G Margaillan, T Torres Gomes, Y Coulombe, G Montalban, ... Nucleic acids research 47 (20), 10662-10677, 2019 | 53 | 2019 |
Pathogenicity of the BRCA1 missense variant M1775K is determined by the disruption of the BRCT phosphopeptide-binding pocket: a multi-modal approach M Tischkowitz, N Hamel, MA Carvalho, G Birrane, A Soni, EH Van Beers, ... European journal of human genetics 16 (7), 820-832, 2008 | 53 | 2008 |
DNA damage response and repair in perspective: Aedes aegypti, Drosophila melanogaster and Homo sapiens MBS Mota, MA Carvalho, ANA Monteiro, RD Mesquita Parasites & vectors 12, 1-20, 2019 | 52 | 2019 |
Functional characterization of 84 PALB2 variants of uncertain significance T Wiltshire, M Ducy, TK Foo, C Hu, KY Lee, AB Nagaraj, A Rodrigue, ... Genetics in Medicine 22 (3), 622-632, 2020 | 50 | 2020 |
Impact of amino acid substitutions at secondary structures in the BRCT domains of the tumor suppressor BRCA1: Implications for clinical annotation VC Fernandes, VA Golubeva, G Di Pietro, C Shields, K Amankwah, ... Journal of Biological Chemistry 294 (15), 5980-5992, 2019 | 43 | 2019 |
BRCA1 Circos: a visualisation resource for functional analysis of missense variants A Jhuraney, A Velkova, RC Johnson, B Kessing, RS Carvalho, P Whiley, ... Journal of medical genetics 52 (4), 224-230, 2015 | 43 | 2015 |
Acidic pH modulates the interaction between human granulocyte-macrophage colony-stimulating factor and glycosaminoglycans A Wettreich, A Sebollela, MA Carvalho, SP Azevedo, R Borojevic, ... Journal of Biological Chemistry 274 (44), 31468-31475, 1999 | 43 | 1999 |
Rapid generation of full clinical-grade human antiadenovirus cytotoxic T cells for adoptive immunotherapy L Aïssi-Rothé, V Decot, V Venard, H Jeulin, A Salmon, L Clement, ... Journal of Immunotherapy 33 (4), 414-424, 2010 | 42 | 2010 |