Etienne Rouleau

Author PubWeight™ 35.67‹?›

Top papers

Rank Title Journal Year PubWeight™‹?›
1 A SUMOylation-defective MITF germline mutation predisposes to melanoma and renal carcinoma. Nature 2011 3.53
2 Genome-wide association study in BRCA1 mutation carriers identifies novel loci associated with breast and ovarian cancer risk. PLoS Genet 2013 2.39
3 Common breast cancer susceptibility alleles and the risk of breast cancer for BRCA1 and BRCA2 mutation carriers: implications for risk prediction. Cancer Res 2010 1.90
4 Guidelines for splicing analysis in molecular diagnosis derived from a set of 327 combined in silico/in vitro studies on BRCA1 and BRCA2 variants. Hum Mutat 2012 1.77
5 Down-regulation of BRCA1 expression by miR-146a and miR-146b-5p in triple negative sporadic breast cancers. EMBO Mol Med 2011 1.68
6 External quality assessment for KRAS testing is needed: setup of a European program and report of the first joined regional quality assessment rounds. Oncologist 2011 1.59
7 Common alleles at 6q25.1 and 1p11.2 are associated with breast cancer risk for BRCA1 and BRCA2 mutation carriers. Hum Mol Genet 2011 1.51
8 Implementation of formalin-fixed, paraffin-embedded cell line pellets as high-quality process controls in quality assessment programs for KRAS mutation analysis. J Mol Diagn 2012 1.44
9 A guide for functional analysis of BRCA1 variants of uncertain significance. Hum Mutat 2012 1.34
10 Guideline on the requirements of external quality assessment programs in molecular pathology. Virchows Arch 2012 1.24
11 Identification in daily practice of patients with Lynch syndrome (hereditary nonpolyposis colorectal cancer): revised Bethesda guidelines-based approach versus molecular screening. Am J Gastroenterol 2008 1.20
12 Description and analysis of genetic variants in French hereditary breast and ovarian cancer families recorded in the UMD-BRCA1/BRCA2 databases. Nucleic Acids Res 2011 1.11
13 EMMA, a cost- and time-effective diagnostic method for simultaneous detection of point mutations and large-scale genomic rearrangements: application to BRCA1 and BRCA2 in 1,525 patients. Hum Mutat 2011 1.08
14 CDH1 germline mutations and the hereditary diffuse gastric and lobular breast cancer syndrome: a multicentre study. J Med Genet 2013 1.05
15 PIK3R1 underexpression is an independent prognostic marker in breast cancer. BMC Cancer 2013 0.99
16 Germline APC mutation spectrum derived from 863 genomic variations identified through a 15-year medical genetics service to French patients with FAP. J Med Genet 2010 0.98
17 Expression analysis of mitotic spindle checkpoint genes in breast carcinoma: role of NDC80/HEC1 in early breast tumorigenicity, and a two-gene signature for aneuploidy. Mol Cancer 2011 0.95
18 Multiple sequence variants of BRCA2 exon 7 alter splicing regulation. J Med Genet 2012 0.94
19 Age-Dependent Cancer Risk Is Not Different in between MSH2 and MLH1 Mutation Carriers. J Cancer Epidemiol 2009 0.91
20 International distribution and age estimation of the Portuguese BRCA2 c.156_157insAlu founder mutation. Breast Cancer Res Treat 2010 0.91
21 Associations of common breast cancer susceptibility alleles with risk of breast cancer subtypes in BRCA1 and BRCA2 mutation carriers. Breast Cancer Res 2014 0.89
22 Role of microsatellite instability in the management of colorectal cancers. Dig Liver Dis 2012 0.87
23 Performance and cost efficiency of KRAS mutation testing for metastatic colorectal cancer in routine diagnosis: the MOKAECM study, a nationwide experience. PLoS One 2013 0.86
24 Quantification of PKC family genes in sporadic breast cancer by qRT-PCR: evidence that PKCι/λ overexpression is an independent prognostic factor. Int J Cancer 2012 0.85
25 A diagnostic genetic test for the physical mapping of germline rearrangements in the susceptibility breast cancer genes BRCA1 and BRCA2. Hum Mutat 2012 0.81
26 Dismantling papillary renal cell carcinoma classification: The heterogeneity of genetic profiles suggests several independent diseases. Genes Chromosomes Cancer 2015 0.79
27 A one-step prescreening for point mutations and large rearrangement in BRCA1 and BRCA2 genes using quantitative polymerase chain reaction and high-resolution melting curve analysis. Genet Test Mol Biomarkers 2010 0.78
28 An entire exon 3 germ-line rearrangement in the BRCA2 gene: pathogenic relevance of exon 3 deletion in breast cancer predisposition. BMC Med Genet 2011 0.77
29 A missense variant within BRCA1 exon 23 causing exon skipping. Cancer Genet Cytogenet 2010 0.77
30 Corrigendum: A SUMOylation-defective MITF germline mutation predisposes to melanoma and renal carcinoma. Nature 2015 0.75
31 [Hereditary forms of ovarian cancer]. Bull Cancer 2012 0.75
32 [Evaluation of residual immune response against human pox virus before and after revaccination in healthy volunteers]. Bull Acad Natl Med 2007 0.75
33 Primary jejunal adenocarcinoma incidentally diagnosed on positron emission tomography/computed tomography in a patient with metastatic colorectal cancer: suspicion of Lynch syndrome and effect on therapeutic management. J Clin Oncol 2013 0.75