| Rank |
Title |
Journal |
Year |
PubWeight™‹?› |
|
1
|
Genome sequence of the Brown Norway rat yields insights into mammalian evolution.
|
Nature
|
2004
|
24.40
|
|
2
|
Evolutionary and biomedical insights from the rhesus macaque genome.
|
Science
|
2007
|
16.21
|
|
3
|
The Human Gene Mutation Database: building a comprehensive mutation repository for clinical and molecular genetics, diagnostic testing and personalized genomic medicine.
|
Hum Genet
|
2014
|
6.69
|
|
4
|
Insights into hominid evolution from the gorilla genome sequence.
|
Nature
|
2012
|
4.12
|
|
5
|
Predicting the functional, molecular, and phenotypic consequences of amino acid substitutions using hidden Markov models.
|
Hum Mutat
|
2012
|
3.60
|
|
6
|
Deleterious- and disease-allele prevalence in healthy individuals: insights from current predictions, mutation databases, and population-scale resequencing.
|
Am J Hum Genet
|
2012
|
3.30
|
|
7
|
The Human Gene Mutation Database: providing a comprehensive central mutation database for molecular diagnostics and personalized genomics.
|
Hum Genomics
|
2009
|
3.24
|
|
8
|
Genes, mutations, and human inherited disease at the dawn of the age of personalized genomics.
|
Hum Mutat
|
2010
|
2.67
|
|
9
|
Microdeletions and microinsertions causing human genetic disease: common mechanisms of mutagenesis and the role of local DNA sequence complexity.
|
Hum Mutat
|
2005
|
2.55
|
|
10
|
Genome sequencing and comparison of two nonhuman primate animal models, the cynomolgus and Chinese rhesus macaques.
|
Nat Biotechnol
|
2011
|
2.37
|
|
11
|
A systematic analysis of LINE-1 endonuclease-dependent retrotranspositional events causing human genetic disease.
|
Hum Genet
|
2005
|
2.10
|
|
12
|
Evolutionary conservation and selection of human disease gene orthologs in the rat and mouse genomes.
|
Genome Biol
|
2004
|
2.05
|
|
13
|
Meta-analysis of gross insertions causing human genetic disease: novel mutational mechanisms and the role of replication slippage.
|
Hum Mutat
|
2005
|
1.74
|
|
14
|
Identifying Mendelian disease genes with the variant effect scoring tool.
|
BMC Genomics
|
2013
|
1.64
|
|
15
|
Interpreting secondary cardiac disease variants in an exome cohort.
|
Circ Cardiovasc Genet
|
2013
|
1.43
|
|
16
|
CRAVAT: cancer-related analysis of variants toolkit.
|
Bioinformatics
|
2013
|
1.43
|
|
17
|
Complex gene rearrangements caused by serial replication slippage.
|
Hum Mutat
|
2005
|
1.41
|
|
18
|
The Human Gene Mutation Database (HGMD) and its exploitation in the study of mutational mechanisms.
|
Curr Protoc Bioinformatics
|
2006
|
1.37
|
|
19
|
Intrachromosomal serial replication slippage in trans gives rise to diverse genomic rearrangements involving inversions.
|
Hum Mutat
|
2005
|
1.37
|
|
20
|
Using exome data to identify malignant hyperthermia susceptibility mutations.
|
Anesthesiology
|
2013
|
1.28
|
|
21
|
Abundance and length of simple repeats in vertebrate genomes are determined by their structural properties.
|
Genome Res
|
2008
|
1.25
|
|
22
|
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.
|
Hum Genomics
|
2010
|
1.22
|
|
23
|
The evaluation of tools used to predict the impact of missense variants is hindered by two types of circularity.
|
Hum Mutat
|
2015
|
1.12
|
|
24
|
MuPIT interactive: webserver for mapping variant positions to annotated, interactive 3D structures.
|
Hum Genet
|
2013
|
0.99
|
|
25
|
Gross Rearrangement Breakpoint Database (GRaBD).
|
Hum Mutat
|
2004
|
0.96
|
|
26
|
Single base-pair substitutions at the translation initiation sites of human genes as a cause of inherited disease.
|
Hum Mutat
|
2011
|
0.92
|
|
27
|
Meiotic recombination favors the spreading of deleterious mutations in human populations.
|
Hum Mutat
|
2011
|
0.91
|
|
28
|
Complete ascertainment of intragenic copy number mutations (CNMs) in the CFTR gene and its implications for CNM formation at other autosomal loci.
|
Hum Mutat
|
2010
|
0.90
|
|
29
|
Elucidating common structural features of human pathogenic variations using large-scale atomic-resolution protein networks.
|
Hum Mutat
|
2014
|
0.86
|
|
30
|
Comparative analysis of germline and somatic microlesion mutational spectra in 17 human tumor suppressor genes.
|
Hum Mutat
|
2011
|
0.81
|
|
31
|
Delineating the Hemostaseome as an aid to individualize the analysis of the hereditary basis of thrombotic and bleeding disorders.
|
Hum Genet
|
2011
|
0.78
|
|
32
|
Prospects for the automated extraction of mutation data from the scientific literature.
|
Hum Genomics
|
2010
|
0.76
|