PubRank

Ans van den Ouweland

Author PubWeight™ 88.79‹?›

Top papers

Rank Title Journal Year PubWeight™‹?›
1 Genome-wide association study identifies novel breast cancer susceptibility loci. Nature 2007 29.23
2 Low-penetrance susceptibility to breast cancer due to CHEK2(*)1100delC in noncarriers of BRCA1 or BRCA2 mutations. Nat Genet 2002 9.71
3 Genome-wide association study identifies five new breast cancer susceptibility loci. Nat Genet 2010 7.62
4 Heterogeneity of breast cancer associations with five susceptibility loci by clinical and pathological characteristics. PLoS Genet 2008 6.22
5 A locus on 19p13 modifies risk of breast cancer in BRCA1 mutation carriers and is associated with hormone receptor-negative breast cancer in the general population. Nat Genet 2010 4.96
6 Mutational analysis of the TSC1 and TSC2 genes in a diagnostic setting: genotype--phenotype correlations and comparison of diagnostic DNA techniques in Tuberous Sclerosis Complex. Eur J Hum Genet 2005 3.43
7 BRCA1 mutation analysis of 41 human breast cancer cell lines reveals three new deleterious mutants. Cancer Res 2006 2.58
8 The CHEK2 1100delC mutation identifies families with a hereditary breast and colorectal cancer phenotype. Am J Hum Genet 2003 1.93
9 Rare BRCA1 haplotypes including 3'UTR SNPs associated with breast cancer risk. Cell Cycle 2011 1.64
10 Variants in CHEK2 other than 1100delC do not make a major contribution to breast cancer susceptibility. Am J Hum Genet 2003 1.58
11 Sensitivity to first-line chemotherapy for metastatic breast cancer in BRCA1 and BRCA2 mutation carriers. J Clin Oncol 2009 1.33
12 A method to assess the clinical significance of unclassified variants in the BRCA1 and BRCA2 genes based on cancer family history. Breast Cancer Res 2009 1.22
13 Selection bias influences reported contralateral breast cancer incidence and survival in high risk non-BRCA1/2 patients. Breast Cancer Res Treat 2006 1.10
14 Functional assessment of variants in the TSC1 and TSC2 genes identified in individuals with Tuberous Sclerosis Complex. Hum Mutat 2011 1.08
15 Functional assessment of TSC2 variants identified in individuals with tuberous sclerosis complex. Hum Mutat 2012 1.05
16 A simple method for co-segregation analysis to evaluate the pathogenicity of unclassified variants; BRCA1 and BRCA2 as an example. BMC Cancer 2009 1.05
17 Distant disease-free interval, site of first relapse and post-relapse survival in BRCA1- and BRCA2-associated compared to sporadic breast cancer patients. Breast Cancer Res Treat 2007 0.99
18 MDM2 SNP309 accelerates familial breast carcinogenesis independently of estrogen signaling. Breast Cancer Res Treat 2006 0.98
19 Gene expression profiling assigns CHEK2 1100delC breast cancers to the luminal intrinsic subtypes. Breast Cancer Res Treat 2011 0.96
20 Attitude towards pre-implantation genetic diagnosis for hereditary cancer. Fam Cancer 2009 0.95
21 A reliable cell-based assay for testing unclassified TSC2 gene variants. Eur J Hum Genet 2008 0.94
22 CHEK2 1100delC and male breast cancer in the Netherlands. Breast Cancer Res Treat 2008 0.93
23 Functional assessment of TSC1 missense variants identified in individuals with tuberous sclerosis complex. Hum Mutat 2012 0.92
24 Identification of a region required for TSC1 stability by functional analysis of TSC1 missense mutations found in individuals with tuberous sclerosis complex. BMC Med Genet 2009 0.92
25 Missense mutations to the TSC1 gene cause tuberous sclerosis complex. Eur J Hum Genet 2008 0.88
26 Functional characterisation of the TSC1-TSC2 complex to assess multiple TSC2 variants identified in single families affected by tuberous sclerosis complex. BMC Med Genet 2008 0.88
27 Increased MUTYH mutation frequency among Dutch families with breast cancer and colorectal cancer. Breast Cancer Res Treat 2010 0.88
28 The TSC1-TSC2 complex consists of multiple TSC1 and TSC2 subunits. BMC Biochem 2012 0.87
29 Analysis of TSC1 truncations defines regions involved in TSC1 stability, aggregation and interaction. Biochim Biophys Acta 2010 0.86
30 Association of rare MSH6 variants with familial breast cancer. Breast Cancer Res Treat 2009 0.77
31 Deleterious CHEK2 1100delC and L303X mutants identified among 38 human breast cancer cell lines. Breast Cancer Res Treat 2008 0.76
32 Trigonocephaly in Muenke syndrome. Am J Med Genet A 2006 0.76
33 Severe plexiform facial neurofibromatosis, type 1 with underdeveloped eyes and a novel NF1 mutation. Am J Med Genet A 2012 0.76
34 Sensitivity to systemic therapy for metastatic breast cancer in CHEK2 1100delC mutation carriers. J Cancer Res Clin Oncol 2015 0.75