PubRank

R H Sijmons

Author PubWeight™ 39.12‹?›

Top papers

Rank Title Journal Year PubWeight™‹?›
1 Germline mutations in the PTEN/MMAC1 gene in patients with Cowden disease. Hum Mol Genet 1997 3.56
2 Association of hereditary nonpolyposis colorectal cancer-related tumors displaying low microsatellite instability with MSH6 germline mutations. Am J Hum Genet 1999 2.27
3 Molecular evidence linking primary cancer of the fallopian tube to BRCA1 germline mutations. Gynecol Oncol 2000 2.04
4 Germline mutations of EXO1 gene in patients with hereditary nonpolyposis colorectal cancer (HNPCC) and atypical HNPCC forms. Gastroenterology 2001 1.84
5 Identification of mismatch repair gene mutations in young patients with colorectal cancer and in patients with multiple tumours associated with hereditary non-polyposis colorectal cancer. Gut 2006 1.46
6 Multiplicity in polyp count and extracolonic manifestations in 40 Dutch patients with MYH associated polyposis coli (MAP). J Med Genet 2005 1.38
7 Cost effectiveness of a new strategy to identify HNPCC patients. Gut 2005 1.38
8 Genetic predisposition to testicular germ-cell tumours. Lancet Oncol 2004 1.28
9 The InSiGHT database: utilizing 100 years of insights into Lynch syndrome. Fam Cancer 2013 1.27
10 Familial testicular cancer in a single-centre population. Eur J Cancer 1999 1.17
11 Family system characteristics and psychological adjustment to cancer susceptibility genetic testing: a prospective study. Clin Genet 2007 1.16
12 A role for MLH3 in hereditary nonpolyposis colorectal cancer. Nat Genet 2001 1.11
13 BRCA1 and BRCA2 heterozygosity and repair of X-ray-induced DNA damage. Int J Radiat Biol 2002 1.07
14 Frequency of Von Hippel-Lindau germline mutations in classic and non-classic Von Hippel-Lindau disease identified by DNA sequencing, Southern blot analysis and multiplex ligation-dependent probe amplification. Clin Genet 2007 1.02
15 Experience of parental cancer in childhood is a risk factor for psychological distress during genetic cancer susceptibility testing. Ann Oncol 2006 0.96
16 RET mutation screening in familial cutaneous lichen amyloidosis and in skin amyloidosis associated with multiple endocrine neoplasia. J Invest Dermatol 1996 0.92
17 MLH1 and MSH2 protein expression as a pre-screening marker in hereditary and non-hereditary endometrial hyperplasia and cancer. Int J Cancer 2001 0.91
18 Regular surveillance for Li-Fraumeni Syndrome: advice, adherence and perceived benefits. Fam Cancer 2010 0.91
19 Adrenocortical adenocarcinoma in an MSH2 carrier: coincidence or causal relation? Hum Pathol 2000 0.90
20 A multicentre comparative prospective blinded analysis of EUS and MRI for screening of pancreatic cancer in high-risk individuals. Gut 2015 0.87
21 Geographic clustering of testicular cancer incidence in the northern part of The Netherlands. Br J Cancer 1999 0.87
22 Re-analysis of the Xq27-Xq28 region suggests a weak association of an X-linked gene with sporadic testicular germ cell tumour without cryptorchidism. Eur J Cancer 2006 0.86
23 Psychosocial impact of Von Hippel-Lindau disease: levels and sources of distress. Clin Genet 2010 0.86
24 The additional value of endometrial sampling in the early detection of endometrial cancer in women with Lynch syndrome. Gynecol Oncol 2013 0.84
25 Contribution of bi-allelic germline MUTYH mutations to early-onset and familial colorectal cancer and to low number of adenomatous polyps: case-series and literature review. Fam Cancer 2013 0.83
26 Prenatal diagnosis in a family with X-linked chronic granulomatous disease with the use of the polymerase chain reaction. Prenat Diagn 1992 0.83
27 Rapidly progressive adenomatous polyposis in a patient with germline mutations in both the APC and MLH1 genes: the worst of two worlds. Gut 2003 0.82
28 Hereditary non-polyposis colorectal cancer: identification of mutation carriers and assessing pathogenicity of mutations. Scand J Gastroenterol Suppl 2004 0.81
29 The introduction of a choice to learn pre-symptomatic DNA test results for BRCA or Lynch syndrome either face-to-face or by letter. Clin Genet 2011 0.80
30 Distress in partners of individuals diagnosed with or at high risk of developing tumors due to rare hereditary cancer syndromes. Psychooncology 2011 0.80
31 [More hereditary intestinal cancer can be detected if patients with colorectal carcinoma that are selected by the pathologist are examined for microsatellite instability]. Ned Tijdschr Geneeskd 2005 0.79
32 Acceptable age for prophylactic surgery in children with multiple endocrine neoplasia type 2a. Eur J Surg Oncol 2003 0.79
33 Absence of constitutional Y chromosome AZF deletions in patients with testicular germ cell tumors. Urology 2005 0.78
34 Early-onset renal cell cancer and bilateral epididymal cysts as presenting symptoms of von Hippel-Lindau disease. Br J Urol 1998 0.78
35 Clinical definition of hereditary non-polyposis colorectal cancer: a search for the impossible? Scand J Gastroenterol Suppl 2001 0.77
36 Prenatal diagnosis in two cases of de novo complex balanced chromosomal rearrangements. Three-year follow-up in one case. Prenat Diagn 1995 0.75
37 [The chance of breast carcinoma and related carcinomas in a positive family anamnesis. Landelijke Werkgroep Erfelijk Mammacarcinoom van de Stichting Opsporing Erfelijke Tumoren]. Ned Tijdschr Geneeskd 1995 0.75
38 Familial and hereditary non-polyposis colorectal cancer: issues relevant for surgical practice. Recent Results Cancer Res 1998 0.75
39 No association between the Arg201Gly polymorphism of the DCC gene and colorectal cancer. Dig Liver Dis 2004 0.75