PubRank

Stefan Aretz

Author PubWeight™ 34.66‹?›

Top papers

Rank Title Journal Year PubWeight™‹?›
1 Revised guidelines for the clinical management of Lynch syndrome (HNPCC): recommendations by a group of European experts. Gut 2013 2.86
2 Expanded extracolonic tumor spectrum in MUTYH-associated polyposis. Gastroenterology 2009 2.42
3 Planning the human variome project: the Spain report. Hum Mutat 2009 2.22
4 No association between MUTYH and MSH6 germline mutations in 64 HNPCC patients. Eur J Hum Genet 2008 1.58
5 Survival of MUTYH-associated polyposis patients with colorectal cancer and matched control colorectal cancer patients. J Natl Cancer Inst 2010 1.48
6 Analysis of MUTYH genotypes and colorectal phenotypes in patients With MUTYH-associated polyposis. Gastroenterology 2008 1.40
7 Tumours from MSH2 mutation carriers show loss of MSH2 expression but many tumours from MLH1 mutation carriers exhibit weak positive MLH1 staining. J Pathol 2005 1.35
8 Leiden Open Variation Database of the MUTYH gene. Hum Mutat 2010 1.28
9 Increased colorectal cancer incidence in obligate carriers of heterozygous mutations in MUTYH. Gastroenterology 2009 1.21
10 Familial adenomatous polyposis: experience from a study of 1164 unrelated german polyposis patients. Hered Cancer Clin Pract 2005 1.13
11 Aberrant splicing in MLH1 and MSH2 due to exonic and intronic variants. Hum Genet 2005 1.13
12 Deep intronic APC mutations explain a substantial proportion of patients with familial or early-onset adenomatous polyposis. Hum Mutat 2012 1.07
13 Truncating mutations in Peutz-Jeghers syndrome are associated with more polyps, surgical interventions and cancers. Int J Colorectal Dis 2009 1.00
14 Deciphering the colon cancer genes--report of the InSiGHT-Human Variome Project Workshop, UNESCO, Paris 2010. Hum Mutat 2011 0.96
15 Association of familial colorectal cancer with variants in the E-cadherin (CDH1) and cyclin D1 (CCND1) genes. Int J Colorectal Dis 2007 0.95
16 De novo microduplication at 22q11.21 in a patient with VACTERL association. Eur J Med Genet 2010 0.93
17 Autoimmunity, intestinal lymphoid hyperplasia, and defects in mucosal B-cell homeostasis in patients with PTEN hamartoma tumor syndrome. Gastroenterology 2012 0.92
18 Hereditary nonpolyposis colorectal cancer: pitfalls in deletion screening in MSH2 and MLH1 genes. Eur J Hum Genet 2005 0.88
19 Compound heterozygosity for two MSH6 mutations in a patient with early onset colorectal cancer, vitiligo and systemic lupus erythematosus. Am J Med Genet A 2008 0.88
20 Cancer risk and genotype-phenotype correlations in PTEN hamartoma tumor syndrome. Fam Cancer 2014 0.87
21 Contribution of common monoallelic MUTYH gene variants in German patients with familial colorectal cancer. Cancer Biomark 2008 0.85
22 Genome-wide CNV analysis in 221 unrelated patients and targeted high-throughput sequencing reveal novel causative candidate genes for colorectal adenomatous polyposis. Int J Cancer 2014 0.84
23 Analysis of rare APC variants at the mRNA level: six pathogenic mutations and literature review. J Mol Diagn 2009 0.82
24 Nine novel pathogenic germline mutations in MLH1, MSH2, MSH6 and PMS2 in families with Lynch syndrome. Acta Oncol 2007 0.81
25 Effects of common haplotypes of the ileal sodium dependent bile acid transporter gene on the development of sporadic and familial colorectal cancer: a case control study. BMC Med Genet 2008 0.81
26 Germline hypermethylation of the APC promoter is not a frequent cause of familial adenomatous polyposis in APC/MUTYH mutation negative families. Int J Cancer 2008 0.81
27 Maternal de novo triple mosaicism for two single OCRL nucleotide substitutions (c.1736A>T, c.1736A>G) in a Lowe syndrome family. Hum Genet 2011 0.81
28 MUTYH c.933+3A>C, associated with a severely impaired gene expression, is the first Italian founder mutation in MUTYH-Associated Polyposis. Int J Cancer 2012 0.80
29 Maternal uniparental disomy 14 in a 15-year-old boy with normal karyotype and no evidence of precocious puberty. Am J Med Genet A 2005 0.80
30 APC mutation spectrum of Norwegian familial adenomatous polyposis families: high ratio of novel mutations. J Cancer Res Clin Oncol 2009 0.78
31 De novo duplication of 18p11.21-18q12.1 in a female with anorectal malformation. Am J Med Genet A 2011 0.77
32 A complex rearrangement in the APC gene uncovered by multiplex ligation-dependent probe amplification. J Mol Diagn 2007 0.75
33 Autosomal-dominant non-syndromic anal atresia: sequencing of candidate genes, array-based molecular karyotyping, and review of the literature. Eur J Pediatr 2010 0.75