ISSN: 1059-7794

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Human Mutation Q1 Unclaimed

United Kingdom

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Human Mutation is a journal indexed in SJR in Genetics and Genetics (clinical) with an H index of 182. It has a price of 3450 €. It has an SJR impact factor of 1,686 and it has a best quartile of Q1. It is published in English. It has an SJR impact factor of 1,686.

Human Mutation focuses its scope in these topics and keywords: mutations, mutation, genes, database, disease, gene, jewish, type, brca, dna, ...

Type: Journal

Type of Copyright:

Languages: English

Open Access Policy: Open Choice

Type of publications:

Publication frecuency: -

Categories: Genetics (Q1) Genetics (clinical) (Q1) Genetics (clinical) (Q1)

Price

3450 €

Inmediate OA

NPD

Embargoed OA

0 €

Non OA

Metrics

1,686

SJR Impact factor

182

H Index

34

Total Docs (Last Year)

515

Total Docs (3 years)

1235

Total Refs

1810

Total Cites (3 years)

492

Citable Docs (3 years)

3.14

Cites/Doc (2 years)

36.32

Ref/Doc

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Aims and Scope

Best articles by citations

LPIN1 gene mutations: a major cause of severe rhabdomyolysis in early childhood

Proposal for an allele nomenclature system based on the evolutionary divergence of haplotypes

Results of next-generation sequencing gene panel diagnostics including copy-number variation analysis in 810 patients suspected of heritable thoracic aortic disorders

Large deletions in the polycystic kidney disease 1 (PKD1) gene

Large deletions of the MECP2 gene detected by gene dosage analysis in patients with Rett syndrome

Detailed analysis of five mutations in dihydropyrimidine dehydrogenase detected in cancer patients with 5-fluorouracil-related side effects

Solid renal tumor severity in von Hippel Lindau disease is related to germline deletion length and location

Biallelic variants in

Phenotype-genotype characterization of 10 families with severe a subunit factor XIII deficiency

Mutations in the human ATP-binding cassette transportersABCG5 andABCG8 in sitosterolemia

CYLD mutation causes multiple familial trichoepithelioma in three Chinese families

SHOW MORE ARTICLES

Novel mutations and SNPs identified inCCR2 using a new comprehensive denaturing gradient gel electrophoresis assay

BRCA1 and BRCA2 in Indian breast cancer patients

BRCA1 and BRCA2 mutations in women with familial or early-onset breast/ovarian cancer in the Czech Republic

BRCA1 andBRCA2 sequence variants in Chinese breast cancer families

Novel mutations in theAtlastin gene (SPG3A) in families with autosomal dominant hereditary spastic paraplegia and evidence for late onset forms of HSP linked to theSPG3A locus

High throughput mutation screening of the factor VIII gene (F8C) in hemophilia A: 37 novel mutations and genotype-phenotype correlation

Extensive in silico analysis of NF1 splicing defects uncovers determinants for splicing outcome upon 5' splice-site disruption

A double mutant [N543H+2393del9] allele in the LDL receptor gene in familial hypercholesterolemia: effect on plasma cholesterol levels and cardiovascular disease

Hereditary angioedema: The mutation spectrum ofSERPING1/C1NHin a large Spanish cohort

Comprehensive screening for constitutionalRB1mutations by DHPLC and QMPSF

Fluorescent microsphere-based readout technology for multiplexed human single nucleotide polymorphism analysis and bacterial identification

Novel germline mutations in theBRCA1 andBRCA2 genes in Indian breast and breast-ovarian cancer families