Isabelle Coupier

Author PubWeight™ 31.56‹?›

Top papers

Rank Title Journal Year PubWeight™‹?›
1 RAD51 135G-->C modifies breast cancer risk among BRCA2 mutation carriers: results from a combined analysis of 19 studies. Am J Hum Genet 2007 3.63
2 A SUMOylation-defective MITF germline mutation predisposes to melanoma and renal carcinoma. Nature 2011 3.53
3 Genome-wide association study in BRCA1 mutation carriers identifies novel loci associated with breast and ovarian cancer risk. PLoS Genet 2013 2.39
4 The succinate dehydrogenase genetic testing in a large prospective series of patients with paragangliomas. J Clin Endocrinol Metab 2009 2.22
5 AURKA F31I polymorphism and breast cancer risk in BRCA1 and BRCA2 mutation carriers: a consortium of investigators of modifiers of BRCA1/2 study. Cancer Epidemiol Biomarkers Prev 2007 1.75
6 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
7 Frequent hSNF5/INI1 germline mutations in patients with rhabdoid tumor. Clin Cancer Res 2011 1.24
8 Common breast cancer susceptibility alleles are associated with tumour subtypes in BRCA1 and BRCA2 mutation carriers: results from the Consortium of Investigators of Modifiers of BRCA1/2. Breast Cancer Res 2011 1.22
9 Common variants at the 19p13.1 and ZNF365 loci are associated with ER subtypes of breast cancer and ovarian cancer risk in BRCA1 and BRCA2 mutation carriers. Cancer Epidemiol Biomarkers Prev 2012 1.17
10 Novel FH mutations in families with hereditary leiomyomatosis and renal cell cancer (HLRCC) and patients with isolated type 2 papillary renal cell carcinoma. J Med Genet 2011 1.14
11 Patients' characteristics and rate of Internet use to obtain cancer information. J Public Health (Oxf) 2006 1.08
12 Letter to the editor: Pregnancy and von Hippel-Lindau disease. J Neurosurg 2013 1.07
13 Imaging work-up for screening of paraganglioma and pheochromocytoma in SDHx mutation carriers: a multicenter prospective study from the PGL.EVA Investigators. J Clin Endocrinol Metab 2012 1.06
14 Impact of an information booklet on satisfaction and decision-making about BRCA genetic testing. Eur J Cancer 2006 0.97
15 Breast cancer risk in BRCA1 and BRCA2 mutation carriers and polyglutamine repeat length in the AIB1 gene. Int J Cancer 2005 0.91
16 Variation in breast cancer risk with mutation position, smoking, alcohol, and chest X-ray history, in the French National BRCA1/2 carrier cohort (GENEPSO). Breast Cancer Res Treat 2011 0.90
17 Significant contribution of large BRCA1 gene rearrangements in 120 French breast and ovarian cancer families. Oncogene 2002 0.89
18 BRCA1/2 carriers: their childbearing plans and theoretical intentions about having preimplantation genetic diagnosis and prenatal diagnosis. Genet Med 2012 0.86
19 Common BRCA2 variants and modification of breast and ovarian cancer risk in BRCA1 mutation carriers. Cancer Epidemiol Biomarkers Prev 2005 0.86
20 Variation in breast cancer risk associated with factors related to pregnancies according to truncating mutation location, in the French National BRCA1 and BRCA2 mutations carrier cohort (GENEPSO). Breast Cancer Res 2012 0.85
21 Association of hereditary haemorrhagic telangiectasia (Rendu-Osler-Weber syndrome) and malignant melanoma in two patients. Melanoma Res 2007 0.84
22 Is BRCA1/BRCA2-related breast carcinogenesis estrogen dependent? Cancer 2005 0.80
23 Germline copy number variation of genes involved in chromatin remodelling in families suggestive of Li-Fraumeni syndrome with brain tumours. Eur J Hum Genet 2013 0.80
24 Deletion of chromosomes 13q and 14q is a common feature of tumors with BRCA2 mutations. PLoS One 2012 0.78
25 A family with two cases of melanocytic tumors and fragile X syndrome. Melanoma Res 2017 0.75