PubRank

K Metcalfe

Author PubWeight™ 26.10‹?›

Top papers

Rank Title Journal Year PubWeight™‹?›
1 A gene in the HLA class I region contributes to susceptibility to IDDM in the Finnish population. Childhood Diabetes in Finland (DiMe) Study Group. Diabetologia 1994 2.25
2 An elastin gene mutation producing abnormal tropoelastin and abnormal elastic fibres in a patient with autosomal dominant cutis laxa. Hum Mol Genet 1998 1.75
3 Williams syndrome: use of chromosomal microdeletions as a tool to dissect cognitive and physical phenotypes. Am J Hum Genet 1999 1.62
4 The genetic predisposition to fibrocalculous pancreatic diabetes. Diabetologia 1989 1.46
5 EYA4, a novel vertebrate gene related to Drosophila eyes absent. Hum Mol Genet 1999 1.32
6 Elastin: genomic structure and point mutations in patients with supravalvular aortic stenosis. Hum Mol Genet 1997 1.31
7 Using case study comparisons to explore genotype-phenotype correlations in Williams-Beuren syndrome. J Med Genet 2003 1.31
8 LIM-kinase deleted in Williams syndrome. Nat Genet 1996 1.15
9 Evaluation of the needs of male carriers of mutations in BRCA1 or BRCA2 who have undergone genetic counseling. Am J Hum Genet 2000 1.07
10 Localization of a gene for oculodentodigital syndrome to human chromosome 6q22-q24. Hum Mol Genet 1997 0.98
11 A transcription factor involved in skeletal muscle gene expression is deleted in patients with Williams syndrome. Eur J Hum Genet 2000 0.97
12 Risks associated with herbal slimming remedies. J R Soc Promot Health 2002 0.96
13 Evaluation of Peru-15, a new live oral vaccine for cholera, in volunteers. J Infect Dis 1997 0.92
14 HLA-DQ gene polymorphism in primary IgA nephropathy in three European populations. Kidney Int 1996 0.89
15 Novel and recurring ABCA12 mutations associated with harlequin ichthyosis: implications for prenatal diagnosis. Br J Dermatol 2007 0.88
16 Comparison of continuation or cessation of growth hormone (GH) therapy on body composition and metabolic status in adolescents with severe GH deficiency at completion of linear growth. J Clin Endocrinol Metab 2004 0.88
17 Three novel mutations of the proto-oncogene KIT cause human piebaldism. Am J Med Genet 2000 0.85
18 Suprasellar germ cell tumours: specific problems and the evolution of optimal management with a combined chemoradiotherapy regimen. Clin Endocrinol (Oxf) 2002 0.83
19 A complete physical contig and partial transcript map of the Williams syndrome critical region. Genomics 1999 0.83
20 Breast and ovarian cancer risk perception after prophylactic salpingo-oophorectomy due to an inherited mutation in the BRCA1 or BRCA2 gene. Clin Genet 2009 0.83
21 A family with three germline mutations in BRCA1 and BRCA2. Clin Genet 1998 0.82
22 Modes of delivery of genetic testing services and the uptake of cancer risk management strategies in BRCA1 and BRCA2 carriers. Clin Genet 2013 0.82
23 Clinical heterogeneity of central pontine myelinolysis. Lancet 1988 0.80
24 Evaluation of TAP1 polymorphisms with insulin dependent diabetes mellitus in Finnish diabetic patients. The Childhood Diabetes in Finland (DiMe) Study Group. Hum Immunol 1997 0.78
25 Prevalence of dental trauma and use of mouthguards in rugby union players. Aust Dent J 2014 0.75
26 Prevalence of PALB2 mutations in the Creighton University Breast Cancer Family Registry. Breast Cancer Res Treat 2015 0.75
27 Equilibrium surface adsorption behavior in complex anionic/nonionic surfactant mixtures. Langmuir 2007 0.75
28 No clear evidence for an association between GH replacement and relapse of intracranial germ cell tumours: single centre and KIMS experience. Eur J Endocrinol 2010 0.75