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Human Mutation
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Top Articles
Human Mutation
Biology
,
Genetics
,
Human Genetics
4.7
(top 3%)
Impact Factor
5.2
(top 3%)
extended IF
178
(top 1%)
H-Index
7.1K
authors
6K
papers
249.1K
citations
7.1K
citing journals
102.9K
citing authors
Most Cited Articles of Human Mutation
Title
Year
Citations
Mutation nomenclature extensions and suggestions to describe complex mutations: a discussion
2000
1.5K
Updated comprehensive phylogenetic tree of global human mitochondrial DNA variation
2009
1.3K
Impact of mutant p53 functional properties on TP53 mutation patterns and tumor phenotype: lessons from recent developments in the IARC TP53 database
2007
1.3K
Human Gene Mutation Database (HGMD): 2003 update
2003
1.2K
The IARC TP53 database: new online mutation analysis and recommendations to users
2002
1K
Molecular genetics of the LDL receptor gene in familial hypercholesterolemia
1992
919
Recommendations for a nomenclature system for human gene mutations. Nomenclature Working Group
1998
839
HGVS Recommendations for the Description of Sequence Variants: 2016 Update
2016
792
Cystic fibrosis: a worldwide analysis of CFTR mutations--correlation with incidence data and application to screening
2002
765
Predicting the functional, molecular, and phenotypic consequences of amino acid substitutions using hidden Markov models
2013
723
GeneMatcher: a matching tool for connecting investigators with an interest in the same gene
2015
716
LOVD v.2.0: the next generation in gene variant databases
2011
661
PTEN: one gene, many syndromes
2003
659
Denaturing high-performance liquid chromatography: A review
2001
623
Sequence variant classification and reporting: recommendations for improving the interpretation of cancer susceptibility genetic test results
2008
622
dbNSFP v3.0: A One-Stop Database of Functional Predictions and Annotations for Human Nonsynonymous and Splice-Site SNVs
2016
585
SNPs, protein structure, and disease
2001
540
dbNSFP: a lightweight database of human nonsynonymous SNPs and their functional predictions
2011
529
Consortium for osteogenesis imperfecta mutations in the helical domain of type I collagen: regions rich in lethal mutations align with collagen binding sites for integrins and proteoglycans
2007
504
Multiple endocrine neoplasia type 1 (MEN1): analysis of 1336 mutations reported in the first decade following identification of the gene
2008
494
Identification and characterization of ANKK1: a novel kinase gene closely linked to DRD2 on chromosome band 11q23.1
2004
485
Germline mutations in the von Hippel-Lindau disease tumor suppressor gene: correlations with phenotype
1995
475
An update of the mutation spectrum of the survival motor neuron gene (SMN1) in autosomal recessive spinal muscular atrophy (SMA)
2000
462
dbNSFP v2.0: a database of human non-synonymous SNVs and their functional predictions and annotations
2013
455
Mutations of the human E-cadherin (CDH1) gene
1998
431
previous
2002
2003
2004
How are inpact factors calculated?
The impact factor (IF) is calculated by counting citations from peer-reviewed journals only.
extended IF
also counts citations from books and conference papers. However, no patent, abstract, working papers, online documents, etc., are covered.
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