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Mechanisms of insertional mutagenesis in human genes causing genetic disease

Human Genetics(1991)10.1007/bf00197158Source: DataRank Database

Mechanisms of insertional mutagenesis in human genes causing genetic disease is a research paper published in Human Genetics (1991). On theSindex it has a DataRank of 12.0. It has been cited 141 times, with 128 citing works in its 1-hop citation network.

N/A

12.0DataRank · unranked

Scored on demand from live citation data

141 citations · 128 citing works in its network

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›Methodology & internals

datarank_citation_only_1hop_v6· scope data_onlyMethodology

Pipeline:MetadataData-paper checkEnrichmentCitation networkScoring

Enrichment:Impact (FWCI 1.93)OA: closedTopics (26)IDs (PubMed, OpenAlex)

FAIR Checklist

Context only (not used in score)

Findable (1/2)

Has DOI

Accessible (0/2)

Interoperable (0/2)

Reusable (0/3)

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DataRank Breakdown

Base Score 6%Citation Network 94%

Base Score Contribution

0.743

From this paper's citation signal

Citation Network Contribution

11.2

From 124 citing papers with measurable signal

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Top 5 citers driving the network score

Ranked by each citer's contribution to N(p) — log1p(C_q) divided by its reference count — out of 128 citers.

Identification of 12 novel mutations in the alpha-N-acetylglucosaminidase gene in 14 patients with Sanfilippo syndrome type B (mucopolysaccharidosis type IIIB).
Journal of Medical Genetics199852 citations16 referencesContributes 0.248
A 5-base insertion in the γC-crystallin gene is associated with autosomal dominant variable zonular pulverulent cataract
Human Genetics200018 citations13 referencesContributes 0.226
UBE3A/E6-AP mutations cause Angelman syndrome
Nature Genetics19971,331 citations32 referencesContributes 0.225
Sanfilippo type B syndrome (mucopolysaccharidosis III B): allelic heterogeneity corresponds to the wide spectrum of clinical phenotypes
European Journal of Human Genetics1999108 citations21 referencesContributes 0.223
The identification and classification of 41 novel mutations in the factor VIII gene (F8C)
Human Mutation200239 citations17 referencesContributes 0.217

Authors (2)

Michael Krawczak,DavidN. Cooper

Live enrichment

PubMed:1652548 OpenAlex:https://openalex.org/W2089023930

FWCI

1.93

Citation Percentile

0.9%

Citation Trend

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closedLicense: http://www.springer.com/tdm

publisherhttp://link.springer.com/content/pdf/10.1007/BF00197158.pdf

publisherhttp://link.springer.com/article/10.1007/BF00197158/fulltext.html

publisherhttp://link.springer.com/content/pdf/10.1007/BF00197158

journalhttps://doi.org/10.1007/bf00197158

repositoryhttps://pubmed.ncbi.nlm.nih.gov/1652548

Fields of Study

RNA and protein synthesis mechanismsDNA and Nucleic Acid ChemistryGenomics and Chromatin Dynamics

MeSH Terms

Base SequenceDNA Transposable ElementsHumansMolecular Sequence DataRepetitive Sequences, Nucleic AcidMutagenesisFrameshift MutationGenetic Diseases, Inborn

Keywords

BiologyInsertional mutagenesisGeneticsGeneInverted repeatMutagenesisPalindromeCoding regionHuman geneticsDNADirect repeatMutationSequence (biology)CRISPRGenome