ISSN: 0022-2593

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Journal of Medical Genetics Q1 Unclaimed

BMJ Publishing Group United Kingdom

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Journal of Medical Genetics is a journal indexed in SJR in Genetics and Genetics (clinical) with an H index of 189. It has an SJR impact factor of 1,69 and it has a best quartile of Q1. It is published in English. It has an SJR impact factor of 1,69.

Journal of Medical Genetics focuses its scope in these topics and keywords: syndrome, mutations, chromosome, gene, ca, patients, mutation, protein, study, human, ...

Type: Journal

Type of Copyright:

Languages: English

Open Access Policy:

Type of publications:

Publication frecuency: -

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

Price

- €

Inmediate OA

NPD

Embargoed OA

- €

Non OA

Metrics

1,69

SJR Impact factor

189

H Index

200

Total Docs (Last Year)

392

Total Docs (3 years)

7418

Total Refs

1602

Total Cites (3 years)

385

Citable Docs (3 years)

3.87

Cites/Doc (2 years)

37.09

Ref/Doc

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Aims and Scope

Best articles by citations

The battle of replication fork

Gain-of-function mutation inTRPV4identified in patients with osteonecrosis of the femoral head

A new seipin-associated neurodegenerative syndrome

Current needs for human and medical genomics research infrastructure in low and middle income countries: Table 1

Biallelic MLH1 SNP cDNA expression or constitutional promoter methylation can hide genomic rearrangements causing Lynch syndrome

The whole truth and nothing but the truth, but what is the truth?

Contribution of the low-frequency, loss-of-function p.R270H mutation inFFAR4(GPR120) to increased fasting plasma glucose levels

Current novel-gene-finding strategy for autosomal-dominant hypercholesterolaemia needs refinement

Clinical course of sly syndrome (mucopolysaccharidosis type VII)

Regulating the advertising of genetic tests in Europe: a balancing act

Mosaic terminal del(19)(q13.33:) in a girl with seizures and mental retardation

Mosaic trisomy 13: understanding origin using SNP array

SHOW MORE ARTICLES

Genome-wide DNA methylation analysis of patients with imprinting disorders identifies differentially methylated regions associated with novel candidate imprinted genes

EIF4G1is neither a strong nor a common risk factor for Parkinson's disease: evidence from large European cohorts: Table1

BRCA1 Circos: a visualisation resource for functional analysis of missense variants

Mutations inCOQ4, an essential component of coenzyme Q biosynthesis, cause lethal neonatal mitochondrial encephalomyopathy

Mutations inMYO1Hcause a recessive form of central hypoventilation with autonomic dysfunction

Mutations inSLC1A4, encoding the brain serine transporter, are associated with developmental delay, microcephaly and hypomyelination

Identifying novel oncogenic RET mutations and characterising their sensitivity to RET-specific inhibitors

Stable non-Robertsonian dicentric chromosomes: four new cases and a review

Genomic variations integrated database forMUTYH-associated adenomatous polyposis

Parthenogenetic chimaerism/mosaicism with a Silver-Russell syndrome-like phenotype

Deregulation of EIF4E: a novel mechanism for autism

Thyroid hormone resistance syndrome due to mutations in the thyroid hormone receptor a gene (THRA)