PubRank

Hans Eiberg

Author PubWeight™ 54.72‹?›

Top papers

Rank Title Journal Year PubWeight™‹?›
1 Comprehensive mutational screening in a cohort of Danish families with hereditary congenital cataract. Invest Ophthalmol Vis Sci 2009 2.54
2 Mutant DNA-binding domain of HSF4 is associated with autosomal dominant lamellar and Marner cataract. Nat Genet 2002 2.21
3 A degradation-sensitive anionic trypsinogen (PRSS2) variant protects against chronic pancreatitis. Nat Genet 2006 1.90
4 Genetic heterogeneity in microcornea-cataract: five novel mutations in CRYAA, CRYGD, and GJA8. Invest Ophthalmol Vis Sci 2007 1.70
5 Genomic structure of the human mitochondrial chaperonin genes: HSP60 and HSP10 are localised head to head on chromosome 2 separated by a bidirectional promoter. Hum Genet 2002 1.69
6 Genetic evidence that HNF-1alpha-dependent transcriptional control of HNF-4alpha is essential for human pancreatic beta cell function. J Clin Invest 2002 1.16
7 The congenital "ant-egg" cataract phenotype is caused by a missense mutation in connexin46. Mol Vis 2006 1.15
8 Novel Connexin 43 (GJA1) mutation causes oculo-dento-digital dysplasia with curly hair. Am J Med Genet A 2004 1.15
9 Mutation analysis of the WFS1 gene in seven Danish Wolfram syndrome families; four new mutations identified. Eur J Hum Genet 2005 1.12
10 A comprehensive survey of mutations in the OPA1 gene in patients with autosomal dominant optic atrophy. Invest Ophthalmol Vis Sci 2002 1.10
11 Branchio-oto-renal syndrome: detection of EYA1 and SIX1 mutations in five out of six Danish families by combining linkage, MLPA and sequencing analyses. Eur J Hum Genet 2007 1.06
12 Variants near MC4R are associated with obesity and influence obesity-related quantitative traits in a population of middle-aged people: studies of 14,940 Danes. Diabetes 2008 1.05
13 Novel MAF mutation in a family with congenital cataract-microcornea syndrome. Mol Vis 2007 1.04
14 Preaxial polydactyly/triphalangeal thumb is associated with changed transcription factor-binding affinity in a family with a novel point mutation in the long-range cis-regulatory element ZRS. Eur J Hum Genet 2010 1.03
15 Novel de novo BRCA2 mutation in a patient with a family history of breast cancer. BMC Med Genet 2008 0.99
16 The functional Pro129Thr variant of the FAAH gene is not associated with various fat accumulation phenotypes in a population-based cohort of 5,801 whites. J Mol Med (Berl) 2007 0.98
17 Human eye colour and HERC2, OCA2 and MATP. Forensic Sci Int Genet 2010 0.97
18 A novel nonsense mutation in MYO6 is associated with progressive nonsyndromic hearing loss in a Danish DFNA22 family. Am J Med Genet A 2008 0.97
19 Compound heterozygous ASPM mutations in Pakistani MCPH families. Am J Med Genet A 2009 0.97
20 Heat-shock protein 70 genes and human longevity: a view from Denmark. Ann N Y Acad Sci 2006 0.96
21 Genetic and epigenetic alterations of the blood group ABO gene in oral squamous cell carcinoma. Int J Cancer 2004 0.95
22 Variation in the gene encoding Krüppel-like factor 7 influences body fat: studies of 14 818 Danes. Eur J Endocrinol 2009 0.94
23 Non-disjunction of chromosome 13. Hum Mol Genet 2007 0.94
24 Autosomal inheritance of diabetes in two families characterized by obesity and a novel H241Q mutation in NEUROD1. Pediatr Diabetes 2008 0.89
25 Huntington's disease-like and ataxia syndromes: identification of a family with a de novo SCA17/TBP mutation. Parkinsonism Relat Disord 2010 0.88
26 Sequence variants in SPAST, SPG3A and HSPD1 in hereditary spastic paraplegia. J Neurol Sci 2009 0.87
27 A novel mutation in IRF6 resulting in VWS-PPS spectrum disorder with renal aplasia. Am J Med Genet A 2008 0.85
28 Variation in CAPN10 in relation to type 2 diabetes, obesity and quantitative metabolic traits: studies in 6018 whites. Mol Genet Metab 2006 0.85
29 A high frequent BRCA1 founder mutation identified in the Greenlandic population. Fam Cancer 2009 0.83
30 A novel nonsense mutation in PAX9 is associated with marked variability in number of missing teeth. Eur J Oral Sci 2007 0.82
31 Mosaicism of the CAG repeat sequence in the Huntington disease gene in a pair of monozygotic twins. Am J Med Genet A 2004 0.82
32 A mutation in the FOXE3 gene causes congenital primary aphakia in an autosomal recessive consanguineous Pakistani family. Mol Vis 2010 0.82
33 A 72-year-old Danish puzzle resolved--comparative analysis of phenotypes in families with different-sized HOXD13 polyalanine expansions. Am J Med Genet A 2005 0.82
34 Cytoplasmic expression of E-cadherin and beta-Catenin correlated with LOH and hypermethylation of the APC gene in oral squamous cell carcinomas. J Oral Pathol Med 2005 0.82
35 Determination of cis/trans phase of variations in the MC1R gene with allele-specific PCR and single base extension. Electrophoresis 2008 0.81
36 Differential nongenetic impact of birth weight versus third-trimester growth velocity on glucose metabolism and magnetic resonance imaging abdominal obesity in young healthy twins. J Clin Endocrinol Metab 2011 0.80
37 High heritability and genetic correlation of intravenous glucose- and tolbutamide-induced insulin secretion among non-diabetic family members of type 2 diabetic patients. Diabetologia 2014 0.80
38 A 3.2 Mb deletion on 18q12 in a patient with childhood autism and high-grade myopia. Eur J Hum Genet 2008 0.80
39 Polymorphisms in phase I and phase II genes and breast cancer risk and relations to persistent organic pollutant exposure: a case-control study in Inuit women. Environ Health 2014 0.80
40 CHEK2 1100delC is prevalent in Swedish early onset familial breast cancer. BMC Cancer 2007 0.80
41 Mutation analysis of the Sonic hedgehog promoter and putative enhancer elements in Parkinson's disease patients. Brain Res Mol Brain Res 2004 0.79
42 Single-nucleotide variations in the genes encoding the mitochondrial Hsp60/Hsp10 chaperone system and their disease-causing potential. J Hum Genet 2006 0.79
43 LOH at chromosome 9q34.3 and the Notch1 gene methylation are less involved in oral squamous cell carcinomas. J Oral Pathol Med 2007 0.79
44 The influence of parental history of diabetes and offspring birthweight on offspring glucose metabolism in adulthood. Acta Obstet Gynecol Scand 2011 0.79
45 Frequency of the HFE C282Y and H63D mutations in Danish patients with clinical haemochromatosis initially diagnosed by phenotypic methods. Eur J Haematol 2003 0.79
46 Autozygosity mapping of a large consanguineous Pakistani family reveals a novel non-syndromic autosomal recessive mental retardation locus on 11p15-tel. Neurogenetics 2011 0.79
47 Dominant optic atrophy in Denmark - report of 15 novel mutations in OPA1, using a strategy with a detection rate of 90%. BMC Med Genet 2012 0.79
48 Hereditary phenotypes in nocturnal enuresis. BJU Int 2008 0.78
49 The ADULT-EEC spectrum: an R280C mutation with a borderline phenotype. Am J Med Genet A 2007 0.78
50 Screening for Y microdeletions in men with testicular cancer and undescended testis. J Assist Reprod Genet 2006 0.78
51 Family and population-based studies of variation within the ghrelin receptor locus in relation to measures of obesity. PLoS One 2010 0.77
52 Suggestive linkage to a neighboring region of IRF6 in a cleft lip and palate multiplex family. Am J Med Genet A 2007 0.77
53 500K SNP array analyses in blood and saliva showed no differences in a pair of monozygotic twins discordant for cleft lip. Am J Med Genet A 2011 0.77
54 Genetic and phenotypic correlations between surrogate measures of insulin release obtained from OGTT data. Diabetologia 2015 0.77
55 The CHEK2 1100delC variant in Swedish colorectal cancer. Anticancer Res 2007 0.76
56 GJB2 (Connexin-26) mutations are not frequent among hearing impaired patients in east Greenland. Int J Audiol 2012 0.76
57 ATXN2 with intermediate-length CAG/CAA repeats does not seem to be a risk factor in hereditary spastic paraplegia. J Neurol Sci 2012 0.76
58 The analysis of a large Danish family supports the presence of a susceptibility locus for adenoma and colorectal cancer on chromosome 11q24. Fam Cancer 2015 0.75
59 Male-to-male transmission in Laurin-Sandrow syndrome and exclusion of RARB and RARG. Am J Med Genet A 2005 0.75
60 [From research to prevention in Greenland. Greenland Medical Society]. Ugeskr Laeger 2007 0.75
61 Mutational analysis of the human FATE gene in 144 infertile men. Hum Genet 2003 0.75