PubRank

Human genomics (Hum Genomics)

Journal PubWeight™ 342.85‹?›

Top papers

Rank Title Year PubWeight™‹?›
1 Whole genome DNA copy number changes identified by high density oligonucleotide arrays. 2004 5.65
2 Gametic phase estimation over large genomic regions using an adaptive window approach. 2003 4.63
3 Large-scale SNP analysis reveals clustered and continuous patterns of human genetic variation. 2005 3.77
4 The genomic distribution of population substructure in four populations using 8,525 autosomal SNPs. 2004 3.53
5 The Human Gene Mutation Database: providing a comprehensive central mutation database for molecular diagnostics and personalized genomics. 2009 3.24
6 The cytochrome p450 homepage. 2009 2.97
7 Population genetic analysis of ascertained SNP data. 2004 2.41
8 Measuring and using admixture to study the genetics of complex diseases. 2003 2.31
9 Robustness of the inference of human population structure: a comparison of X-chromosomal and autosomal microsatellites. 2004 2.22
10 Identifying positive selection candidate loci for high-altitude adaptation in Andean populations. 2009 2.18
11 Analysis and update of the human aldehyde dehydrogenase (ALDH) gene family. 2005 2.11
12 In-silico human genomics with GeneCards. 2011 2.10
13 The genetics of regulatory variation in the human genome. 2005 2.05
14 A comprehensive literature review of haplotyping software and methods for use with unrelated individuals. 2005 1.84
15 Application of pooled genotyping to scan candidate regions for association with HDL cholesterol levels. 2004 1.71
16 RGD: a comparative genomics platform. 2011 1.68
17 How homologous recombination generates a mutable genome. 2005 1.67
18 Analysis and update of the human solute carrier (SLC) gene superfamily. 2009 1.62
19 Human ATP-binding cassette (ABC) transporter family. 2009 1.61
20 The human fatty acid-binding protein family: evolutionary divergences and functions. 2011 1.57
21 From DNA to RNA to disease and back: the 'central dogma' of regulatory disease variation. 2006 1.56
22 State of the art de novo assembly of human genomes from massively parallel sequencing data. 2010 1.51
23 A survey of current software for network analysis in molecular biology. 2010 1.48
24 Update of the human and mouse Fanconi anemia genes. 2015 1.46
25 Gene nomenclature by default, or BLASTing to Babel. 2005 1.45
26 The Human Cytochrome P450 (CYP) Allele Nomenclature website: a peer-reviewed database of CYP variants and their associated effects. 2010 1.44
27 Mitochondrial and nuclear genomics and the emergence of personalized medicine. 2012 1.40
28 Copy number variation in CEP57L1 predisposes to congenital absence of bilateral ACL and PCL ligaments. 2015 1.40
29 Naming 'junk': human non-protein coding RNA (ncRNA) gene nomenclature. 2011 1.39
30 Impact of human population history on distributions of individual-level genetic distance. 2005 1.38
31 Multifactor dimensionality reduction: an analysis strategy for modelling and detecting gene-gene interactions in human genetics and pharmacogenomics studies. 2006 1.37
32 Fabry disease: identification of 50 novel alpha-galactosidase A mutations causing the classic phenotype and three-dimensional structural analysis of 29 missense mutations. 2006 1.35
33 Genome-wide analysis of the human Alu Yb-lineage. 2004 1.33
34 Protein-protein interaction databases: keeping up with growing interactomes. 2009 1.32
35 Strategies for the detection of copy number and other structural variants in the human genome. 2006 1.32
36 Update on the Kelch-like (KLHL) gene family. 2013 1.29
37 Analysis of the glutathione S-transferase (GST) gene family. 2004 1.28
38 Integration of association statistics over genomic regions using Bayesian adaptive regression splines. 2003 1.28
39 Update of the NAD(P)H:quinone oxidoreductase (NQO) gene family. 2006 1.27
40 Update on the aldehyde dehydrogenase gene (ALDH) superfamily. 2011 1.26
41 Hyperferritinaemia-cataract syndrome: worldwide mutations and phenotype of an increasingly diagnosed genetic disorder. 2010 1.25
42 Use of pathway information in molecular epidemiology. 2009 1.22
43 A genome-wide survey of segmental duplications that mediate common human genetic variation of chromosomal architecture. 2004 1.22
44 Methylation-mediated deamination of 5-methylcytosine appears to give rise to mutations causing human inherited disease in CpNpG trinucleotides, as well as in CpG dinucleotides. 2010 1.22
45 Pseudoexfoliation syndrome, a systemic disorder with ocular manifestations. 2012 1.22
46 Genome-wide scans for loci under selection in humans. 2005 1.19
47 Neurofibromatosis type 1-associated tumours: their somatic mutational spectrum and pathogenesis. 2011 1.17
48 Reconstructing the genomic architecture of mammalian ancestors using multispecies comparative maps. 2003 1.17
49 Effect of the allelic variants of aldehyde dehydrogenase ALDH2*2 and alcohol dehydrogenase ADH1B*2 on blood acetaldehyde concentrations. 2009 1.17
50 Aldo-keto reductase (AKR) superfamily: genomics and annotation. 2009 1.16
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