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Molecular Case Studies
Article . 2021 . Peer-reviewed
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Molecular Case Studies
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Molecular Case Studies
Article . 2022
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Article . 2021
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Mosaicism in clinical genetics

descriptionPublicationkeyboard_double_arrow_right Article 01 Dec 2021 English Publisher:Cold Spring Harbor LaboratoryJournal:Molecular Case Studies, volume 7, page a006162 (issn: 2373-2865, eissn: 2373-2873, Copyright policy )
Authors: Mefford, Heather C.;

doi: 10.1101/mcs.a006162

pmid: 34887310

pmc: PMC8751420

Mosaicism in clinical genetics

Abstract

Genetic mosaicism is the state in which there are two or more different sets of cells in a single individual because of one or more postzygotic mutations, and its importance in clinical genetics has long been recognized (Hall, Am J Hum Genet43: 355 [1988]). In this Perspective, a paper in this special issue on mosaicism from Cook et al. (Cold Spring Harb Mol Case Studies7: a006125 [2021]) is discussed.

Related Organizations
Keywords

Mosaicism, Perspective, Humans

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    This is an alternative to the "Influence" indicator, which also reflects the overall/total impact of an article in the research community at large, based on the underlying citation network (diachronically).
    		 4
    popularity
    This indicator reflects the "current" impact/attention (the "hype") of an article in the research community at large, based on the underlying citation network.
    		 Top 10%
    influence
    This indicator reflects the overall/total impact of an article in the research community at large, based on the underlying citation network (diachronically).
    		 Average
    impulse
    This indicator reflects the initial momentum of an article directly after its publication, based on the underlying citation network.
    		 Top 10%
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selected citations
These citations are derived from selected sources.
This is an alternative to the "Influence" indicator, which also reflects the overall/total impact of an article in the research community at large, based on the underlying citation network (diachronically).
BIP!Citations provided by BIP!
popularity
This indicator reflects the "current" impact/attention (the "hype") of an article in the research community at large, based on the underlying citation network.
BIP!Popularity provided by BIP!
influence
This indicator reflects the overall/total impact of an article in the research community at large, based on the underlying citation network (diachronically).
BIP!Influence provided by BIP!
impulse
This indicator reflects the initial momentum of an article directly after its publication, based on the underlying citation network.
BIP!Impulse provided by BIP!
4
Top 10%
Average
Top 10%
Green
gold