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

TitleYearCitations
Mutation nomenclature extensions and suggestions to describe complex mutations: a discussion20001.5K
Updated comprehensive phylogenetic tree of global human mitochondrial DNA variation20091.3K
Impact of mutant p53 functional properties on TP53 mutation patterns and tumor phenotype: lessons from recent developments in the IARC TP53 database20071.3K
Human Gene Mutation Database (HGMD): 2003 update20031.2K
The IARC TP53 database: new online mutation analysis and recommendations to users20021K
Molecular genetics of the LDL receptor gene in familial hypercholesterolemia1992919
Recommendations for a nomenclature system for human gene mutations. Nomenclature Working Group1998839
HGVS Recommendations for the Description of Sequence Variants: 2016 Update2016792
Cystic fibrosis: a worldwide analysis of CFTR mutations--correlation with incidence data and application to screening2002765
Predicting the functional, molecular, and phenotypic consequences of amino acid substitutions using hidden Markov models2013723
GeneMatcher: a matching tool for connecting investigators with an interest in the same gene2015716
LOVD v.2.0: the next generation in gene variant databases2011661
PTEN: one gene, many syndromes2003659
Denaturing high-performance liquid chromatography: A review2001623
Sequence variant classification and reporting: recommendations for improving the interpretation of cancer susceptibility genetic test results2008622
dbNSFP v3.0: A One-Stop Database of Functional Predictions and Annotations for Human Nonsynonymous and Splice-Site SNVs2016585
SNPs, protein structure, and disease2001540
dbNSFP: a lightweight database of human nonsynonymous SNPs and their functional predictions2011529
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 proteoglycans2007504
Multiple endocrine neoplasia type 1 (MEN1): analysis of 1336 mutations reported in the first decade following identification of the gene2008494
Identification and characterization of ANKK1: a novel kinase gene closely linked to DRD2 on chromosome band 11q23.12004485
Germline mutations in the von Hippel-Lindau disease tumor suppressor gene: correlations with phenotype1995475
An update of the mutation spectrum of the survival motor neuron gene (SMN1) in autosomal recessive spinal muscular atrophy (SMA)2000462
dbNSFP v2.0: a database of human non-synonymous SNVs and their functional predictions and annotations2013455
Mutations of the human E-cadherin (CDH1) gene1998431