PubRank

Ketil Heimdal

Author PubWeight™ 33.10‹?›

Top papers

Rank Title Journal Year PubWeight™‹?›
1 Oral contraceptives and the risk of breast cancer in BRCA1 and BRCA2 mutation carriers. J Natl Cancer Inst 2002 3.25
2 The Y deletion gr/gr and susceptibility to testicular germ cell tumor. Am J Hum Genet 2005 2.26
3 Genome-wide linkage screen for testicular germ cell tumour susceptibility loci. Hum Mol Genet 2006 2.23
4 The International Testicular Cancer Linkage Consortium: a clinicopathologic descriptive analysis of 461 familial malignant testicular germ cell tumor kindred. Urol Oncol 2009 1.70
5 Survival in prospectively ascertained familial breast cancer: analysis of a series stratified by tumour characteristics, BRCA mutations and oophorectomy. Int J Cancer 2002 1.26
6 Pathogenesis of the syndrome of hemolysis, elevated liver enzymes, and low platelet count (HELLP): a review. Eur J Obstet Gynecol Reprod Biol 2012 1.13
7 Analysis of testicular cancer data using a frailty model with familial dependence. Stat Med 2004 1.06
8 Analysis of the DND1 gene in men with sporadic and familial testicular germ cell tumors. Genes Chromosomes Cancer 2008 1.05
9 Quality of life in patients with hereditary hemorrhagic telangiectasia in Norway: a population based study. Am J Med Genet A 2012 0.98
10 Uptake of BRCA1 genetic testing in adult sisters and daughters of known mutation carriers in Norway. J Genet Couns 2003 0.97
11 STUB1 mutations in autosomal recessive ataxias - evidence for mutation-specific clinical heterogeneity. Orphanet J Rare Dis 2014 0.94
12 Immunohistochemistry identifies carriers of mismatch repair gene defects causing hereditary nonpolyposis colorectal cancer. J Clin Oncol 2005 0.93
13 Connective tissue involvement in two patients with features of cranioectodermal dysplasia. Am J Med Genet A 2009 0.93
14 Comprehensive clinical and molecular analysis of 12 families with type 1 recessive cutis laxa. Hum Mutat 2012 0.93
15 Novel mutations including deletions of the entire OFD1 gene in 30 families with type 1 orofaciodigital syndrome: a study of the extensive clinical variability. Hum Mutat 2012 0.91
16 Non-pheochromocytoma (PCC)/paraganglioma (PGL) tumors in patients with succinate dehydrogenase-related PCC-PGL syndromes: a clinicopathological and molecular analysis. Eur J Endocrinol 2013 0.90
17 BRCA1 testing with definitive results: a prospective study of psychological distress in a large clinic-based sample. Fam Cancer 2004 0.88
18 Psychological and cancer-specific distress at 18 months post-testing in women with demonstrated BRCA1 mutations for hereditary breast/ovarian cancer. Fam Cancer 2008 0.86
19 National registries of rare diseases in Europe: an overview of the current situation and experiences. Public Health Genomics 2014 0.83
20 Obstructive sleep apnea in Treacher Collins syndrome. Eur Arch Otorhinolaryngol 2011 0.83
21 Macrophage scavenger receptor 1 999C>T (R293X) mutation and risk of prostate cancer. Cancer Epidemiol Biomarkers Prev 2005 0.83
22 Psychological distress in women at risk of hereditary breast/ovarian or HNPCC cancers in the absence of demonstrated mutations. Fam Cancer 2005 0.83
23 The inframe MSH2 codon 596 deletion is linked with HNPCC and associated with lack of MSH2 protein in tumours. Fam Cancer 2003 0.83
24 Living with hereditary haemorrhagic telangiectasia: coping and psychological distress - a cross-sectional study. Disabil Rehabil 2012 0.83
25 Association between obstructive sleep apnea and health-related quality of life in individuals affected with Treacher Collins syndrome. Eur Arch Otorhinolaryngol 2013 0.82
26 Younger age-at-diagnosis for familial malignant testicular germ cell tumor. Fam Cancer 2009 0.80
27 Causes of hearing impairment in the Norwegian paediatric cochlear implant program. Int J Audiol 2010 0.80
28 Jervell and Lange-Nielsen syndrome in Norwegian children: aspects around cochlear implantation, hearing, and balance. Ear Hear 2008 0.78
29 Quality of life and its relation to cancer-related stress in women of families with hereditary cancer without demonstrated mutation. Qual Life Res 2006 0.78
30 APC mutation spectrum of Norwegian familial adenomatous polyposis families: high ratio of novel mutations. J Cancer Res Clin Oncol 2009 0.78
31 Correction: A Nationwide Study of Norwegian Patients with Hereditary Angioedema with C1 Inhibitor Deficiency Identified Six Novel Mutations in SERPING1. PLoS One 2015 0.75
32 Complete mutation screening and haplotype characterization of the BRCA1 gene in 61 familial breast cancer patients from Norway. Dis Markers 2005 0.75
33 [Hereditary endocrine tumour diseases]. Tidsskr Nor Laegeforen 2005 0.75