verified SJR 1,62 · Q1 • database Scopus / SJR & Web of Science indexed

United Kingdom · BMJ Publishing Group

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Journal of Medical Genetics

Journal of Medical Genetics is a journal indexed in SJR in Genetics and Genetics (clinical) with an H index of 194. It has an SJR impact factor of 1,62 and it has a best quartile of Q1. It is published in English. It has an SJR impact factor of 1,62.

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

ISSN: 0022-2593

Editorial: BMJ Publishing Group

Category: Genetics

Indexation: verifiedScopus / SJR verifiedWeb of Science

Unclaimed profile — some fields may be incomplete.

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SJR Impact Factor trending_up

1,62 Q1

H-index 194

Tasa de Aceptación pie_chart

20% Selectiva

Fuente Acceptance_Rate

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Metrics

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Scopus / SJR Web of Science

SJR Impact

1,62

H-index

194

Docs (year)

122

Docs 3y

471

Total refs

4155

Cites 3y

1800

Citable 3y

465

Cites/Doc 2y

3.79

Ref/Doc

34.06

Immediate OA

—

Embargoed OA

NPD

Non OA / Submission

—

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Best articles by citations

Chromosome fragility in patients with Fanconi anaemia: diagnostic implications and clinical impact

What did we learn from the genome-wide association study for tuberculosis susceptibility?

Defining and managing incidental findings in genetic and genomic practice

Cytogenetic and molecular study of a jumping translocation in a baby with Dandy-Walker malformation

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

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

Cowden's syndrome with immunodeficiency

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

Constitutional or biallelic? Settling on a name for a recessively inherited cancer susceptibility syndrome

Constitutional mosaic genome-wide uniparental disomy due to diploidisation: an unusual cancer-predisposing mechanism

Combined exome and whole-genome sequencing identifies mutations inARMC4as a cause of primary ciliary dyskinesia with defects in the outer dynein arm

Clinical course of sly syndrome (mucopolysaccharidosis type VII)

SHOW MORE ARTICLES

Clinical and cytogenetic characterisation of a patient with Down syndrome resulting from a 21q22.1->qter duplication

A common ancestor for COCH related cochleovestibular (DFNA9) patients in Belgium and The Netherlands bearing the P51S mutation

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

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

Atypical clinical picture of the Nijmegen breakage syndrome associated with developmental abnormalities of the brain

Antiproteinuric therapy and Fabry nephropathy: factors associated with preserved kidney function during agalsidase-beta therapy

Allele-specific DNA hypomethylation characterises FSHD1 and FSHD2

Acute myeloid leukaemia in a case with Tatton-Brown-Rahman syndrome: the peculiarDNMT3AR882 mutation

A tribute to Margaret W. Thompson

A novel 3600+11.5 kb C>G homozygous splicing mutation in a black African, consanguineous CF family

A new seipin-associated neurodegenerative syndrome

A new nonsense mutation of SMAD8 associated with pulmonary arterial hypertension

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