Next-generation sequencing in oncology: genetic diagnosis, risk prediction and cancer classification R Kamps, RD Brandão, BJ van den Bosch, ADC Paulussen, ... International journal of molecular sciences 18 (2), 308, 2017 | 435 | 2017 |
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 | 158 | 2012 |
Screening for a BRCA2 rearrangement in high-risk breast/ovarian cancer families: evidence for a founder effect and analysis of the associated phenotypes PM Machado, RD Brandao, BM Cavaco, J Eugénio, S Bento, M Nave, ... Journal of clinical oncology 25 (15), 2027-2034, 2007 | 114 | 2007 |
A randomised controlled phase II trial of pre-operative celecoxib treatment reveals anti-tumour transcriptional response in primary breast cancer RD Brandão, J Veeck, KK Van de Vijver, P Lindsey, B De Vries, ... Breast cancer research 15, 1-12, 2013 | 101 | 2013 |
Comprehensive annotation of splice junctions supports pervasive alternative splicing at the BRCA1 locus: a report from the ENIGMA consortium M Colombo, MJ Blok, P Whiley, M Santamarina, S Gutierrez-Enriquez, ... Human molecular genetics 23 (14), 3666-3680, 2014 | 93 | 2014 |
Phylogenomics of the major tropical plant family Annonaceae using targeted enrichment of nuclear genes TLP Couvreur, AJ Helmstetter, EJM Koenen, K Bethune, RD Brandão, ... Frontiers in plant science 9, 1941, 2019 | 78 | 2019 |
Comparison of mRNA splicing assay protocols across multiple laboratories: recommendations for best practice in standardized clinical testing PJ Whiley, M De La Hoya, M Thomassen, A Becker, R Brandão, ... Clinical chemistry 60 (2), 341-352, 2014 | 78 | 2014 |
Emerging importance of chemokine receptor CXCR3 and its ligands in cardiovascular diseases R Altara, M Manca, RD Brandao, A Zeidan, GW Booz, FA Zouein Clinical science 130 (7), 463-478, 2016 | 76 | 2016 |
Naturally occurring BRCA2 alternative mRNA splicing events in clinically relevant samples JD Fackenthal, T Yoshimatsu, B Zhang, GR de Garibay, M Colombo, ... Journal of medical genetics 53 (8), 548-558, 2016 | 56 | 2016 |
Characterisation of unclassified variants in the BRCA1/2 genes with a putative effect on splicing RD Brandao, K van Roozendaal, D Tserpelis, EG García, MJ Blok Breast cancer research and treatment 129, 971-982, 2011 | 36 | 2011 |
Targeted RNA‐seq successfully identifies normal and pathogenic splicing events in breast/ovarian cancer susceptibility and Lynch syndrome genes RD Brandão, K Mensaert, I López‐Perolio, D Tserpelis, M Xenakis, ... International journal of cancer 145 (2), 401-414, 2019 | 32 | 2019 |
Familial Breast/Ovarian Cancer and BRCA1/2 Genetic Screening: The Role of Immunohistochemistry as an Additional Method in the Selection of Patients FH Vaz, PM Machado, RD Brandao, CT Laranjeira, JS Eugenio, ... Journal of Histochemistry & Cytochemistry 55 (11), 1105-1113, 2007 | 32 | 2007 |
Full in-frame exon 3 skipping of BRCA2 confers high risk of breast and/or ovarian cancer SM Caputo, M Léoné, F Damiola, A Ehlen, A Carreira, P Gaidrat, ... Oncotarget 9 (25), 17334, 2018 | 24 | 2018 |
Efficiency of BRCAPRO and Myriad II mutation probability thresholds versus cancer history criteria alone for BRCA1/2 mutation detection JJT Van Harssel, CEP van Roozendaal, Y Detisch, RD Brandao, ... Familial cancer 9, 193-201, 2010 | 18 | 2010 |
Correlated evolutionary rates across genomic compartments in Annonaceae PH Hoekstra, JJ Wieringa, E Smets, RD Brandão, J de Carvalho Lopes, ... Molecular phylogenetics and evolution 114, 63-72, 2017 | 15 | 2017 |
Parent-of-origin specific linkage and association of the IGF2 gene region with birth weight and adult metabolic risk factors NY Souren, ADC Paulussen, A Steyls, RJF Loos, RD Brandao, M Gielen, ... International journal of obesity 33 (9), 962-970, 2009 | 15 | 2009 |
In Silico Analysis of Differential Gene Expression in Three Common Rat Models of Diastolic Dysfunction R Altara, FA Zouein, RD Brandão, SN Bajestani, A Cataliotti, GW Booz Frontiers in cardiovascular medicine 5, 11, 2018 | 12 | 2018 |
Pathogenic neurofibromatosis type 1 (NF1) RNA splicing resolved by targeted RNAseq R Koster, RD Brandão, D Tserpelis, CEP van Roozendaal, ... NPJ Genomic Medicine 6 (1), 95, 2021 | 9 | 2021 |
FMR1 low sub-genotype does not rescue BRCA1/2-mutated human embryos and does not explain primary ovarian insufficiency among BRCA1/2-carriers RD Brandão, K van Roozendaal, D Tserpelis, MJ Blok Human Reproduction 28 (8), 2308-2311, 2013 | 8 | 2013 |
on behalf of the ENIGMA (Evidence-based Network for the Interpretation of Germline Mutant Alleles) Consortium Functional Assay Working Group GA Millot, MA Carvalho, SM Caputo, MPG Vreeswijk, MA Brown, M Webb, ... A guide for functional analysis of BRCA1 variants of uncertain significance …, 2012 | 5 | 2012 |